Cavazzana-Calvo M. et al. Transfusion independence and HMGA2 activation after gene therapy of human β-thalassaemia. Nature 2010 Sep 16; 467(7313):318-22. > Lien vers l'extrait

Disson O. et al. Conjugated action of two species-specific invasion proteins for fetoplacental listeriosis. Nature 2008 Oct 23; 455(7216):1114-8. > Lien vers l'extrait

Rigaud S. et al. XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome. Nature 2006; 444(7115):110-4. > Lien vers l'extrait

Alcais A. et al. Susceptibility to leprosy is associated with PARK2 and PACRG. Nature 2004; 427:636-640. > Lien vers l'extrait




Kranendijk M. et al. IDH2 mutations in patients with D-2-hydroxyglutaric aciduria. Science 2010 Oct 15; 330(6002):336. -> Lien vers l'extrait

Auffray C. et al. Patrolling blood monocytes that monitor blood vessels and tissues for damage and infection. Science 2007 August 3; Vol.317. no.5838:666-670. > Lien vers l'extrait

Casanova JL. et al. Primary immunodeficiencies: a field in its infancy. Science 2007; 317:617-9. > Lien vers l'extrait

Casrouge A. et al. Herpes simplex virus encephalitis in human UNC-93B deficiency. Science 2006; 314:308-12. > Lien vers l'extrait

Didelot G. et al. Tequila, a neurotrypsin ortholog, regulates long-term memory formation in Drosophila. Science 2006; 313:851-3. > Lien vers l'extrait

Goyenvalle A. et al. Rescue of dystrophic muscle through U7 snRNA-mediated exon skipping. Science 2004; 306:1796-1799. > Lien vers l'extrait




Buck D. et al. Cernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly. Cell 2006; 124:287-99. > Lien vers l'extrait

Feldmann J. et al. Munc13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocyticlymphohistiocytosis (FHL3). Cell 2003; 115:461-73. > Lien vers l'extrait




Hacein-Bey-Abina S. et al. Efficacy of gene therapy for X-linked severe combined immunodeficiency. N Engl J Med. 2010 Jul 22; 363(4):355-64. -> Lien vers l'extrait

Bonnefont JP. et al. Bezafibrate for an inborn mitochondrial beta-oxidation defect. N Engl J Med. 2009; 360:838-40. > Lien vers l'extrait
  
Neven B. et al. Allogeneic bone marrow transplantation in mevalonic aciduria. N Engl J Med. 2007; 356:2700-3. > Lien vers l'extrait

Rieux-Laucat F. et al. Inherited and somatic CD3zeta mutations in a patient with T-cell deficiency. N Engl J Med. 2006 May 4; 354(18):1913-21. > Lien vers l'extrait

Holzelova E. et al. Autoimmune lymphoproliferative syndrome with somatic Fas mutations. N Engl J Med. 2004 Sep 30; 351(14):1409-18. > Lien vers l'extrait
Lecuit M. et al. Immunoproliferative small intestinal disease associated with Campylobacter jejuni. N Engl J Med. 2004 Jan 15; 350(3):239-48. > No abstract available

Herbrecht R. et al. Voriconazole versus amphotericin B for primary therapy of invasive aspergillosis. N Engl J Med. 2002 Aug 8; 347(6):408-15. > Lien vers l'extrait




Otto EA. et al. Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy. Nat Genet. 2010 Oct; 42(10):840-50. > Lien vers l'extrait

Valente E.M. et al. Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. Nat Genet. 2010 Jul; 42(7):619-25. > Lien vers l'extrait

Benko S. et al. Highly conserved non-coding elements on either side of the SOX9 gene is associated with Pierre Robin sequence. Nat Genet. 2009; 41(3):359-64. > Lien vers l'extrait

Geneviève D. et al. Thromboxane synthase mutations in an increased bone density disorder (Ghosal syndrome). Nat Genet. 2008; 40:284-286. > Lien vers l'extrait

Le Goff C. et al. ADAMTSL2 mutations in geleophysic dysplasia reveal a role for ADAMTS-like proteins in the regulation of TGFb bioavailability. Nat Genet. 2008; 40(9):1119-1123. > Lien vers l'extrait

Baala L. et al. Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesis. Nat Genet. 2007; 39:454-6. > Lien vers l'extrait

Bourdon A. et al. Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion. Nat Genet. 2007; 39:776-80. > Lien vers l'extrait

Delous M. et al. The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. Nat Genet. 2007; 39:875-81. > Lien vers l'extrait

Gribouval O. et al. Mutations in renin-angiotensin system genes are associated with autosomal recessive renal tubular dysgenesis. Nat Genet. 2005; 37:964-8. > Lien vers l'extrait

Huber C. et al. Identification of CUL7 mutations in 3 M syndrome. Nat Genet. 2005;  37:1119-1124. > Lien vers l'extrait

Vogt G. et al. Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations. Nat Genet. 2005; 37:692-700. > Lien vers l'extrait

Amiel J. et al. Polyalanine expansion and frame shift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome (Ondine’s curse). Nat Genet. 2003; 33:459-461. > Lien vers l'extrait

Mollet G. et al. The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin. Nat Genet. 2002; 32:300-305. > Lien vers l'extrait

Boute N. et al. The NPHS2 gene encoding a novel glomerular protein, podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome. Nat Genet. 2000; 24:349-354. > Lien vers l'extrait

Menasche G. et al. Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome. Nat Genet. 2000; 25:173-6. > Lien vers l'extrait




Bustamante J. et al. Germline but macrophage-tropic CYBB mutations in kindreds with X-linked predisposition to tuberculous mycobacterial diseases. Nat Immunol. in press. No abstract available

He B. et al. The transmembrane activator TACI triggers immunoglobulin class switching by activating B cells through the adaptor MyD88. Nat Immunol. 2010 Sep; 11(9):836-45. > Lien vers l'extrait

Fischer A. et al. 20 years of gene therapy for SCID. Commentary. Nature Immunol. 2010 Jun; 11(6):457-60. No abstract available.
 
Dong Z. et al. Essential function for SAP family adaptors in the surveillance of hematopoietic cells by natural killer cells. Nat. Immunol. 2009; 10(9):973-80. > Lien vers l'extrait

Menager MM. et al. Secretory cytotoxic granule maturation and exocytosis require the effector protein hMunc13-4. Nat. Immunol. 2007; 8:257-67. > Lien vers l'extrait

Lambolez F. et al. The thymus exports long-lived fully committed T cell precursors that can colonize primary lymphoid organs.  Nat. Immunol. 2006; 7(1):76-82. > Lien vers l'extrait




Pérez de Diego R. et al. Human TRAF3 adaptor molecule deficiency leads to impaired Toll-like receptor 3 response and susceptibility to herpes simplex encephalitis. Immunity 2010 Sep 24; 33(3):400-11. > Lien vers l'extrait

Cros J. et al. Human CD14dim monocytes patrol and sense nucleic acids and viruses via TLR7 and TLR8 receptors. Immunity 2010 Sep 24; 33(3):375-86. > Lien vers l'extrait

Gaboriau-Routhiau, V. et al. The key role of segmented filamentous bacteria in the coordinated maturation of gut helper T cell responses. Immunity 2009; 31:677-689. > Lien vers l'extrait

Yang K. et al. Human TLR-7-, -8-, and -9-mediated induction of IFN-alpha/beta and -lambda Is IRAK-4 dependent and redundant for protective immunity to viruses. Immunity 2005; 23:465-78. > Lien vers l'article




Kuse ER. et al. Micafungin versus liposomal amphotericin B for candidaemia and invasive candidosis: a phase III randomised double-blind trial. Lancet 2007 May 5; 369(9572):1519-27. > Lien vers l'extrait

Béroud C. et al. Prenatal diagnosis of Spinal Muscular Atrophy (SMA) by genetic analysis of circulating fetal cells. The Lancet 2003; 361:1013-4. > Lien vers l'extrait

Cellier C. et al. Refractory sprue, coeliac disease, and enteropathy-associated T-cell lymphoma. French Coeliac Disease Study Group. Lancet 2000; 356:203-208. > Lien vers l'extrait




Bonnart C. et al. Elastase 2 is expressed in human and mouse epidermis and impairs skin barrier function in Netherton syndrome through filaggrin and lipid misprocessing. J Clin Invest. 2010 Mar 1; 120(3):871-82. > Lien vers l’extrait

O'Toole JF. et al. Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy. J Clin Invest. 2010; 120(3):791-802. > Lien vers l'extrait

Magerus-Chatinet A. et al. Onset of autoimmune lymphoproliferative syndrome (ALPS) in humans as a consequence of genetic defect accumulation. J Clin Invest. 2010 Dec 22. pii: 43752. doi: 10.1172/JCI43752. Epub 2010 Dec 22. > Lien vers l'extrait

Côte M. et al. Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells. J Clin Invest. 2009 Dec; 119(12):3765-73. > Lien vers l'extrait

Deichmann A. et al. Vector integration is non-random, clustered and influences the in vivo fate of lymphopoiesis in SCID-X1 gene therapy. J Clin Invest. 2007; 117:2225-32. > Lien vers l'extrait

Mollet J. et al. Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders. J Clin Invest. 2007; 117:765-772. > Lien vers l'extrait

Malamut G. et al. IL-15 triggers an antiapoptotic pathway in human intraepithelial lymphocytes that is a potential new target in celiac disease-associated inflammation and lymphomagenesis. J Clin Invest. 2010 Jun 1; 120(6):2131-43. > Lien vers l'extrait




Tazi A. et al. The surface protein HvgA mediates Group B streptococcus hypervirulence and meningeal tropism in neonates. J Exp Med. 2010 Oct 25; 207(11):2313-22. > Lien vers l'extrait

Byun M. et al. Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma. J Exp Med. 2010 Oct 25; 207(11):2307-12. > Lien vers l'extrait

Avery DT. et al. B cell-intrinsic signaling through IL-21 receptor and STAT3 is required for establishing long-lived antibody responses in humans. J Exp Med. 2010; 207:155-71. > Lien vers l'extrait

Schilte C. et al. Type I IFN controls chikungunya virus via its action on non-hematopoetic cells. J Exp Med. 2010 Feb 15; 207(2):429-42. > Lien vers l'extrait

Puel A. et al. Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I. J Exp Med. 2010 Feb 15; 207(2):291-297. > Lien vers l'extrait

Matysiak-Budnik T. et al. Secretory IgA mediates retrotranscytosis of intact gliadin peptides via the transferrin receptor in celiac disease. J Exp Med. 2008; 205:143-154. > Lien vers l'extrait

Péron S. et al. Human PMS2 deficiency is associated with impaired immunoglobulin class switch recombination. J Exp Med. 2008; 205(11):2465-72. > Lien vers l'extrait

Peron S. et al. A primary immunodeficiency characterized by defective immunoglobulin class switch recombination and impaired DNA repair. J Exp Med. 2007; 204(5):1207-16. > Lien vers l'extrait

Six E. et al. A human postnatal lymphoid-restricted progenitor capable of circulating and seeding the thymus. J Exp Med. 2007; 204: 3085-3093. > Lien vers l'extrait

Soulas-Sprauel P. et al. Role for DNA repair factor XRCC4 in immunoglobulin class switch recombination. J Exp Med. 2007; 204:1717-27. > Lien vers l'extrait

Baghdadi JE. et al. An autosomal dominant major gene confers predisposition to pulmonary tuberculosis in adults. J Exp Med. 2006; 203:1679-84. > Lien vers l'extrait

Filipe-Santos O. et al. X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production. J Exp Med. 2006; 203:1745-59. > Lien vers l'extrait

Alcais A. et al. Tuberculosis in children and adults: two distinct genetic diseases. J Exp Med. 2005; 202:1617-21. > Lien vers l'extrait

Bloch-Queyrat C. et al. Regulation of natural cytotoxicity by the adaptor SAP and the Src-related kinase Fyn. J Exp Med. 2005; 202(1):181-92. > Lien vers l'extrait

Pasquier B et al. Defective NKT cell development in mice and humans lacking the adapter SAP, the X-linked lymphoproliferative syndrome gene product. J Exp Med. 2005; 201(5):695-701. > Lien vers l'extrait


Bolze A. et al. Whole-exome-sequencing-based discovery of human FADD deficiency. Am J Hum Genet. 2010 Dec 10; 87(6):873-81. Epub 2010 Nov 25. > Lien vers l'extrait

Malan V. et al. Distinct Effects of Allelic NFIX Mutations on Nonsense-Mediated mRNA Decay Engender Either a Sotos-like or a Marshall-Smith Syndrome. Am J Hum Genet. 2010 Aug 13; 87(2):189-98. > Lien vers l'extrait

Birk E. et al. SOBP Is Mutated in Syndromic and Nonsyndromic Intellectual Disability and Is Highly Expressed in the Brain Limbic System. Am J Hum Genet. 2010 Nov 12; 87(5):694-700. > Lien vers l'extrait

Emison E.S. et al. Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability. Am J Hum Genet. 2010 Jul 9; 87(1):60-74. > Lien vers l'extrait

Philippe O. et al. Combination of linkage mapping and microarray-expression analysis identifies NF-kappaB signaling defect as a cause of autosomal-recessive mental retardation. Am J Hum Genet. 2009 Dec; 85(6):903-8. > Lien vers l'extrait

Huber C. et al. Identification of CANT1 Mutations in Desbuquois Dysplasia. Am J Hum Genet. 2009 Nov; 85(5):706-10. > Lien vers l'extrait

Molinari F. et al. Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy. Am J Hum Genet. 2005; 76:334-9. > Lien vers l'extrait

Perrault I. et al. Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis. Am J Hum Genet. 2004; 75(4):639-46. > Lien vers l'extrait

Ducroq D. et al. The ABCA4 gene in autosomal recessive cone-rod dystrophies. Am J Hum Genet. 2002; 71(6):1480-2. > Lien vers l'extrait



Elvira-Matelot E. Regulation of WNK1 expression by miR-192 and aldosterone. J Am Soc Nephrol. 2010 Oct; 21(10):1724-31. > Lien vers l'extrait

Mollet G. et al. Podocin inactivation in mature kidneys causes focal segmental glomerulosclerosis and nephrotic syndrome. J Am Soc Nephrol. 2009; 20:2181-9. > Lien vers l'extrait

Harvey SJ. et al. Podocyte-specific deletion of dicer alters cytoskeletal dynamics and causes glomerular disease. J Am Soc Nephrol. 2008; 19:2150-58. > Lien vers l'extrait

Tory K. et al. High NPHP1 and NPHP6 mutation rate in patients with Joubert syndrome and nephronophthisis: Potential epistatic effect of NPHP6 and AHI1 mutations in patients with NPHP1 mutations. J Am Soc Nephrol. 2007; 18:1566–1575. > Lien vers l'extrait

Weber S. et al. Prevalence of mutations in renal developmental genes in children with renal hypodysplasia: results of the ESCAPE study. J Am Soc Nephrol. 2006; 17(10):2864-70. > Lien vers l'extrait

Elvira-Matelot E. Regulation of WNK1 expression by miR-192 and aldosterone. J Am Soc Nephrol. 2010 Oct; 21(10):1724-31. > Lien vers l'extrait




Moes N. et al. Reduced expression of FOXP3 and regulatory T-cell function in severe forms of early-onset autoimmune enteropathy. Gastroenterology 2010 Sep; 139(3):770-8. Epub 2010 Jun 9. > Lien vers l'extrait

Benahmed M. et al. Inhibition of TGF-beta signaling by IL-15: a new role for IL-15 in the loss of immune homeostasis in celiac disease. Gastroenterology 2007; 132:994-1008. > Lien vers l'extrait

Mention J.J. et al. Interleukin 15: a key to disrupted intraepithelial lymphocyte homeostasis and lymphomagenesis in celiac disease. Gastroenterology 2003; 125:730-745. > Lien vers l'extrait



Lacroix M. et al.Transcription factor E4F1 is essential for epidermal stem cell maintenance and skin homeostasis. PNAS. 2010 Dec 7; 107(49):21076-81. > Lien vers l’extrait

Kracker S. Impaired induction of DNA lesions during immunoglobulin class switch recombination in humans influences end-joining repair. PNAS. 2010 Dec 21; 107(51):22225-30. Epub 2010 Dec 6. > Lien vers l'extrait

Touzot F. et al. Function of Apollo (SNM1B) at telomere highlighted by a splice variant identified in a patient with Hoyeraal-Hreidarsson syndrome. PNAS. 2010 Jun 1; 107(22):10097-102. > Lien vers l'extrait

Zu T. et al. Non-ATG Initiated Translation Directed by Microsatellite Expansions. PNAS. 2010; Epub 2010 Dec 20. > Lien vers l'extrait

Weller S. et al. CD40-CD40L independent Ig gene hypermutation suggests a second B cell diversification pathway in humans. PNAS 2001; 98(3):1166-1170. > Lien vers l'extrait




Kong XF. et al. A novel form of human STAT1 deficiency impairing early but not late responses to interferons. Blood 2010 Dec 23; 116(26):5895-906. > Lien vers l'extrait

Pachlopnik Schmid J. et al. Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1/SAP-deficiency) versus type 2 (XLP-2/XIAP-deficiency). Blood 2010 Nov 30. [Epub ahead of print] > Lien vers l'extrait

Markert ML. et al. First use of thymus transplantation therapy for FOXN1 deficiency (nude/SCID): a report of two cases. Blood 2010 Oct 26. [Epub ahead of print] > Lien vers l'extrait

Zhou S. et al. A self-inactivating lentiviral vector for SCID-X1 gene therapy that does not activate LMO2 expression in human T cells. Blood 2010 Aug 12; 116(6):900-8. > Lien vers l'extrait

Scott-Algara D. et al. Idiopathic CD4+ T-cell lymphocytopenia is associated with impaired membrane expression of the chemokine receptor CXCR4. Blood 2010 May 6; 115(18):3708-17. > Lien vers l'extrait

Oliveira JB. et al. Revised diagnostic criteria and classification for the autoimmune lymphoproliferative syndrome (ALPS): report from the 2009 NIH International Workshop. Blood 2010 Oct 7; 116(14):e35-40. Epub 2010 Jun 10. > Lien vers l'extrait

Wang GP. et al. Dynamics of gene-modified progenitor cells analyzed by tracking retroviral integration sites in a human SCID-X1 gene therapy trial. Blood 2010 Jun 3; 115(22):4356-66. > Lien vers l'extrait

Booth C. et al. X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency: a multicenter study on the manifestations, management and outcome of the disease. Blood 2011 Jan 6; 117(1):53-62. Epub 2010 Oct 6. > Lien vers l'extrait

Ditadi A. et al. Human and murine amniotic fluid c-Kit+Lin- cells display hematopoietic activity. Blood 2009; 113:3953-60. > Lien vers l'extrait

Magerus-Chatinet A. et al. FAS-L, IL-10, and double-negative CD4- CD8- TCR alpha/beta+ T cells are reliable markers of autoimmune lymphoproliferative syndrome (ALPS) associated with FAS loss of function. Blood 2009; 113(13):3027-30. > Lien vers l'extrait

Mateo V. et al. Perforin-dependent apoptosis functionally compensates Fas deficiency in activation-induced cell death of human T lymphocytes. Blood 2007; 15;110(13):4285-92. > Lien vers l'extrait

Rivera-Munoz P. et al. Reduced immunoglobulin class switch recombination in the absence of Artemis. Blood 2009; 114:3601-3609. > Lien vers l'extrait




Sarzi E. et al. Twinkle helicase (PEO1) gene mutation causes mitochondrial DNA depletion. Ann Neurol. 2007; 62:579-87. > Lien vers l'extrait




López Castel A. et al. Expanded CTG Repeat Demarcates a Boundary for Abnormal CpG Methylation in Myotonic Dystrophy Patient Tissues. Human Molecular Genetics 2010; Epub 2010 Nov 1.  > Lien vers l'extrait

Gautheron J. et al. Identification of a new NEMO/TRAF6 interface affected in incontinentia pigmenti pathology. Hum Mol Genet. 2010 Aug 15; 19(16):3138-49. > Lien vers l'extrait

Kong XF. et al. A novel form of cell type-specific partial IFN-gammaR1 deficiency caused by a germ line mutation of the IFNGR1 initiation codon. Hum Mol Genet. 2010 Feb 1; 19(3):434-44.  > Lien vers l'extrait

Ratelade J. et al. A murine model of Denys-Drash syndrome reveals novel transcriptional targets of WT1 in podocytes. Hum Mol Genet. 2010 Jan 1; 19(1):1-15. > Lien vers l'extrait

Delous M. et al. Nephrocystin-1 and nephrocystin-4 are required for epithelial morphogenesis and associate with PALS1/PATJ and Par6. Hum Mol Genet. 2009 Dec 15;18(24):4711-23. > Lien vers l'extrait

Thomas S. et al. Human neural crest cells share a complex molecular signature with embryonic stem cells. Hum Mol Genet. 2008; 17:3411-25. > Lien vers l'extrait

Plancoulaine S. et al. A major susceptibility locus for HTLV-1 infection in childhood maps to chromosome 6q27. Hum Mol Genet . 2006; 15:3306-12. > Lien vers l'extrait

Seznec H. et al. Mice transgenic for the human myotonic dystrophy region with expanded CTG repeats display muscular and brain abnormalities. Hum Mol Genet. 2001; 10:2717-2726. > Lien vers l'extrait




Malamut G. et al. The enteropathy associated with common variable immunodeficiency: the delineated frontiers with celiac disease. Am J Gastroenterol. 2010 Oct; 105(10):2262-75.  > Lien vers l'extrait




Shaw AC. et al. Phenotype and natural history in Marshall-Smith syndrome. Am J Med Genet A 2010 Nov; 152A(11):2714-26.  > Lien vers l'extrait

Reish O. et al. Mosaic compound heterozygosity of SHOX resulting in Leri-Weill dyschondrosteosis with marked short stature: implications for disease mechanisms and recurrence risks. Am J Med Genet A 2010 Sep; 152A(9):2230-5.  > Lien vers l'extrait

Reiber J. et al. Additional clinical and molecular analyses of TFAP2A in patients with the Branchio-Oculo-Facial syndrome: Previously reported patient. Am J Med Genet A 2010 Aug; 152A(8):2143. No abstract available.

Isidor B. et al. Rubinstein-Taybi syndrome and Hirschsprung disease in a patient harboring an intragenic deletion of the CREBBP gene. Am J Med Genet A 2010 Jul; 152A(7):1847-8. No abstract available

Thompson MD. et al. Hyperphosphatasia with seizures, neurologic deficit, and characteristic facial features: Five new patients with Mabry syndrome. Am J Med Genet A 2010 Jul; 152A(7):1661-9.  > Lien vers l'extrait

Isidor B. et al. Axialspondylometaphyseal dysplasia: Confirmation and further delineation of a new SMD with retinal dystrophy. Am J Med Genet A 2010 Jun; 152A(6):1550-4.  > Lien vers l'extrait

Marlin S. et al. Fourth case ofcerebral, ocular, dental, auricular, skeletal syndrome (CODAS), description ofnew features and molecular analysis. Am J Med Genet A 2010 Jun; 152A(6):1510-4. > Lien vers l'extrait

Ichikawa S. et al. Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutations. Am J Med Genet A 2010 Apr; 152A(4):896-903. > Lien vers l'extrait

Alessandri JL. et al. RAB23 mutation in a large family from Comoros Islands with Carpenter syndrome. Am J Med Genet A 2010 Apr; 152A(4):982-6. > Lien vers l'extrait

Kornak U. et al. Three novel mutations in the ANK membrane protein cause craniometaphyseal dysplasia with variable conductive hearing loss. Am J Med Genet A 2010 Apr; 152A(4):870-4. > Lien vers l'extrait

Martinovic-Bouriel J. et al. PAX2 mutations in fetal renal hypodysplasia. Am J Med Genet A 2010 Apr; 152A(4):830-5.  > Lien vers l'extrait

Prando C. et al. Paternal uniparental isodisomy of chromosome 6 causing a complex syndrome including complete IFN-gamma receptor 1 deficiency. Am J Med Genet A 2010 Mar; 152(A):622-9.  > Lien vers l'extrait

Sousa SB. et al. Postnatal growth retardation, facial dysmorphism, spondylocarpal synostosis, cardiac defect, and inner ear malformation (cardiospondylocarpofacial syndrome?)-A distinct syndrome? Am J Med Genet A 2010 Mar; 152A(3):539-46.  > Lien vers l'extrait





Canaud G. et al. Therapeutic mTOR inhibition in autosomal dominant polycystic kidney disease : what is the appropriate level ? American Journal of Transplantation 2010 Jul; 10(7):1701-6. > Lien vers l'extrait

Martinez F. et al. High dose Epoietin beta in the first weeks following renal transplantation and delayed graft function: results of the Neo-PDGF study. American Journal of Transplantation 2010; 10(7):1695-1700.  > Lien vers l'extrait

Loupy A. et al. Outcome of subclinical antibody-mediated rejection (SAMR) in kidney transplant recipients with preformed donor specific antibodies. American Journal of Transplantation 2009 Nov; 9(11):2561-70. > Lien vers l'extrait

Canaud G. et al. Martinez. Intensive and prolonged treatment of focal and segmental glomerulosclerosis (FSGS) recurrence in adult kidney transplant recipients : a pilot study. American Journal of Transplantation 2009 May; 9(5):1081-6.  > Lien vers l'extrait

Le Quintrec M. et al. Anti-FH auto-antibodies in a 5th renal transplant recipient with atypical Hemolytic and Uremic Syndrome. American Journal of Transplantation 2009 May; 9(5):1223-9.  > Lien vers l'extrait

Le Quintrec M. et al. Complement mutation-associated de novo thrombotic microangiopathy following kidney transplantation. American Journal of Transplantation 2008 Aug; 8(8):1674-701. > Lien vers l'extrait

Anglicheau D. et al. Consequences of genetic polymorphisms for sirolimus requirements after renal transplant in patients on primary sirolimus therapy. Am J Transplant. 2005 Mar; 5(3):595-603.  > Lien vers l'extrait




Viguier M. et al. Successful treatment of generalized pustular psoriasis with the interleukin-1-receptor antagonist Anakinra: lack of correlation with IL1RN mutations. Ann Intern Med. 2010 Jul 6; 153(1):66-7. No abstract available




Alcais A. et al. Life-threatening infectious diseases of childhood: single-gene inborn errors of immunity? Ann N Y Acad Sci. 2010 Dec; 1214:18-33. > Lien vers l'extrait




Saint-Ruf C. et al. Reliable detection of dead microbial cells by using fluorescent hydrazides. Appl Environ Microbiol. 2010 Mar; 76(5):1674-8. > Lien vers l'extrait




de Pontual L. et al. [Malformation syndromes associated with childhood cancer: an update]. Arch Pediatr. 2010 Aug; 17(8):1220-7.  > Lien vers l'extrait



Gottenberg JE. et al. CTLA-4 +49A/G and CT60 gene polymorphisms in primary Sjögren syndrome. Arthritis Res Ther. 2007; 9(2):R24. > Lien vers l'extrait




Addo MG. et al. Caenorhabditis elegans, a pluricellular model organism to screen new genes involved in mitochondrial genome maintenance. Biochim Biophys Acta. 2010; 1802 (9):765-73.  > Lien vers l'extrait

Pannier S. et al. Activating Fgfr3 Y367C mutation causes hearing loss and inner ear defect in a mouse model of chondrodysplasia. Biochim Biophys Acta. 2009; 1792:140-147. > Lien vers l'extrait




Shizuru JA. et al. The Biology of Allogeneic Hematopoietic Cell Resistance. Biol Blood Marrow Transplant. 2010 Jan; 16(1 Suppl):S2-7.  > Lien vers l'extrait




Vincent Q. et al. Quantifying genomic imprinting in the presence of linkage. Biometrics 2006; 62:1071-80. > Lire l'extrait




Brucato N. et al. The imprint of the Slave Trade in an African American population: mitochondrial DNA, Y chromosome and HTLV-1 analysis in the Noir Marron of French Guiana. BMC Evol Biol. 2010; 10: 314.  > Lien vers l'extrait




Pannier S. et al. Delayed bone age due to a dual effect of FGFR3 mutation in Achondroplasia. Bone 2010 Nov;47(5):905-15.  > Lien vers l'extrait

Yu Y.Y. et al. BMP2 stimulates endochondral ossification by regulating periosteal cell fate during fracture repair. Bone 2010 Jul;47(1):65-73. > Lien vers l'extrait




Gerards M. et al. Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old gene. Brain 2010 Oct 7. [Epub ahead of print] > Lien vers l’extrait




Chassaing N. et al. Mutations in EDARADD account for a small proportion of hypohidrotic ectodermal dysplasia cases. Br J Dermatol. 2010 May; 162(5):1044-8. > Lien vers l'extrait


Bulletin de la Société des Sciences Médicales du Grand Duché de Luxembourg

Ries F. et al. Autoimmune lymphoproliferative syndrome (ALPS). Case report and family history. Bull Soc Sci Med Grand Duche Luxemb. 2010; (2):271-8.  > Lien vers l'extrait




Mbaya E. et al. Calcium signalling-dependent mitochondrial dysfunction and bioenergetics regulation in respiratory chain Complex II deficiency. Cell Death Differ. 2010; 17:1855-66. > Lien vers l’extrait




Hyun I. et al. New ISSCR guidelines underscore major principles for responsible translational stem cell research. Cell Stem Cell 2008; 3:607-9. > Lire l'extrait




Brezillon NM. et al. Rescue of Fertility in Homozygous Mice for the Urokinase Plasminogen Activator Transgene by the Transplantation of Mouse Hepatocytes. Cell Transplant. 2008; 17(7):803-12. > Lire l'extrait




Rötig A. News in ubiquinone biosynthesis. Chem Biol. 2010; 17(5):415-6. > Lien vers l’extrait




Gallant CJ. et al. Tuberculin skin test and in vitro assays provide complementary measures of antimycobacterial immunity in children and adolescents. Chest 2010 May; 137(5):1071-7.  > Lien vers l'extrait




Di Rocco F. et al. Crouzon syndrome with acanthosis nigricans: a case-based update. Childs Nerv Syst. 2010 Dec 7. [Epub ahead of print] 




Bandiera S. et al. MicroRNAs in diseases: from candidate to modifier genes. Clin Genet. 2010 Apr; 77(4):306-13.  > Lien vers l'extrait

Jung C. et al. Stüve-Wiedemann syndrome: long-term follow-up and genetic heterogeneity. Clin Genet. 2010 Mar; 77(3):266-72.  > Lien vers l'extrait




Borgers H. et al. Laboratory diagnosis of specific antibody deficiency to pneumococcal capsular polysaccharide antigens by multiplexed bead assay. Clin Immunol. 2010 Feb; 134: 198-205.  > Lien vers l'extrait

Bousfiha A. et al. Primary immunodeficiencies of protective immunity to primary infections. Clin Immunol. 2010 May; 135:204-9.  > Lien vers l'extrait

Kracker S. et al. Immunoglobulin class switch recombination deficiencies. Clin Immunol. 2010 May; 135(2):193-203.  > Lien vers l'extrait

Cognet C. et al. Expression of the HLA-C2-specific activating killer-cell Ig-like receptor KIR2DS1 on NK and T cells. Clin Immunol. 2010 Apr; 135(1):26-32. Epub 2010 Jan 25. > Lien vers l'extrait

Feske S. et al. Immunodeficiency due to mutations in ORAI1 and STIM1. Clin Immunol. 2010 May;135(2):169-82.  > Lien vers l'extrait




Ruemmele F. et al. Pediatric inflammatory bowel diseases: coming of age. Curr Opin Gastroenterol. 2010 Jul; 26(4):332-6.  > Lien vers l'extrait




Puel A. et al. Inborn errors of mucocutaneous immunity to Candida albicans in humans: a role for IL-17 cytokines? Curr Opin Immunol. 2010 Aug; 22(4):467-74.  > Lien vers l'extrait




Saal S. et al. MicroRNAs and the kidney: coming of age. Curr Opin Nephrol Hypertens. 2009; 18:317-23. > Lire l'extrait

Harvey SJ. Et al. Revisiting the glomerular charge barrier in the molecular era. Curr Opin Nephrol Hypertens. 2008; 17:393-98. > Lire l'extrait




Latour S. NKT cells and X-linked lymphoproliferative syndrome (XLP). Current Opinion in Allergy and Clinical Immunology 2007; 7(6):510-4. > Lire l'extrait




Titeux M. et al. Gene therapy for recessive dystrophic epidermolysis bullosa. Dermatol Clin. 2010 Apr; 28(2):361-6, xii.  > Lien vers l'extrait




You S. et al. Autoimmune diabetes onset results from qualitative rather than quantitative age-dependent changes in pathogenic T-cells. Diabetes 2005; 54(5):1415-1422. > Lire l'extrait




Rötig A. Genetic bases of mitochondrial respiratory chain disorders. Diabetes Metab. 2010; 36:97–107.  > Lien vers l'extrait




Wiegant W.W. et al. A novel radiosensitive SCID patient with a pronounced G(2)/M sensitivity. DNA Repair (Amst) 2010 Apr 4; 9(4):365-73.  > Lien vers l'extrait




Savouret C. CTG repeat instability and size variation timing in repair-deficient mice. The Embo Journal 2003; 22:2264-2273. > Lire l'extrait

Kalatzis V. et al. Cystinosin, the protein defective in cystinosis, is a H+-driven lysosomal cystine transporter. The Embo Journal 2001; 20: 5940-5949. > Lire l'extrait



Cassar O. et al. Human herpesvirus 8, Southern Siberia. Emerg Infect Dis. 2010; 16:580-2.  > Lien vers l'extrait

Bitar D. et al. Increasing incidence of zygomycosis (mucormycosis), France, 1997-2006. Emerg Infect Dis. 2009 Sep; 15(9):1395-401. > Lien vers l'extrait




El Sabbagh S. et al. Epileptic phenotypes in children with respiratory chain disorders. Epilepsia 2010; 51:1225-35. > Lien vers l'extrait




Ramos H.E. et al. Pregnancy in Women Heterozygous for MCT8 Mutations: Risk of Maternal Hypothyroxinemia and Fetal Care. Eur J Endocrinol. 2010 Nov 23. [Epub ahead of print]  > Lien vers l'extrait




Mornet E. et al. Clinical utilitygene card for: hypophosphatasia. Eur J Hum Genet. 2010 Oct 27;. doi:10.1038/ejhg.2010.170. No abstract available

Hoornaert KP. et al. Stickler syndrome caused by COL2A1 mutations: genotype phenotype correlation in a series of 100 patients. Eur J Hum Genet. 2010
Aug; 18(8):872-80.  > Lien vers l'extrait

Rio M. et al. Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation condition. Eur J Hum Genet. 2010 Mar; 18(3):285-90.  > Lien vers l'extrait

Rio M. et al. Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation condition. Eur J Hum Genet. 2010 Mar;18(3):285-90.  > Lien vers l'extrait

Malan V. et al. Array-based comparative genomic hybridization identifies a high frequency of copy number variations in patients with syndromic overgrowth. Eur J Hum Genet. 2010 Feb; 18(2):227-32. > Lien vers l'extrait

Bellais S. et al. In vitro readthrough of termination codons by gentamycin in the Stüve-Wiedemann Syndrome. Eur J Hum Genet. 2010 Jan; 18(1):130-2.  > Lien vers l'extrait



Simonetta F. et al. Increased CD127 expression on activated FOXP3+CD4+ regulatory T cells. Eur J Immunol. 2010 Sep; 40(9):2528-38.  > Lien vers l'extrait

Pachlopnik Schmid J. et al. A Griscelli syndrome type 2 murine model of hemophagocytic lymphohistiocytosis (HLH). Eur J Immunol. 2008; 38(11):3219-25. > Lien vers l'extrait




Willems M. et al. Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families. J Med Genet. 2010 Dec; 47(12):797-802.  > Lien vers l'extrait

Li F. et al. Interstitial microduplication of Xp22.31: Causative of intellectual disability or benign copy number variant ? Eur J Med Genet. 2010 Mar-Apr;53(2):93-9. > Lien vers l'extrait




Chandesris M.O. et al. Enteropathy-associated T-cell lymphoma: a review on clinical presentation, diagnosis, therapeutic strategies and perspectives. Gastroenterol Clin Biol. 2010 Nov.; 34(11):590-605.  > Lien vers l'extrait

Chandesris M.O. et al. [Enteropathy associated-T cell lymphoma: A review on clinical presentation, diagnosis, therapeutic strategies and perspectives.]. Gastroenterol Clin Biol. 2010 Jul 2. [Epub ahead of print] > Lien vers l'extrait





Larsson E. et al. Discovery of microvascular miRNAs using public gene expression data: miR-145 is expressed in pericytes and is a regulator of Fli1. Genome Med. 2009 Nov 16; 1(11):108.  > Lien vers l'extrait




Elachouri G. et al. OPA1 links human mitochondrial genome maintenance to mtDNA replication and distribution. Genome Res. 2010 Oct 25. [Epub ahead of print]  > Lien vers l'extrait




Nalpas B. et al. Interferon gamma receptor 2 gene variants are associated with liver fibrosis in patients with chronic hepatitis C infection. Gut 2010 Aug; 59(8):1120-6. > Lien vers l'extrait




Rieux-Laucat F. et al. Autoimmune lymphoproliferative syndrome: a multifactorial disorder. Haematologica 2010 Nov; 95(11):1805-7. -> No abstract available.

Zhao M. et al. A novel XIAP mutation in a Japanese boy with recurrent pancytopenia and splenomegaly. Haematologica 2010 Apr; 95(4):688-9.  > Lien vers l'extrait




Muller J. et al. Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease. Hum Genet. 2010 Mar; 127(5):583-93. > Lien vers l'extrait

Alter A. et al. Genetic and functional analysis of common MRC1 exon 7 polymorphisms in leprosy susceptibility. Hum Genet. 2010 Mar; 127:337-48. > Lien vers l'extrait





Kleensang A. et al. An extensive comparison of quantitative trait Loci mapping methods. Hum Hered. 2010; 69(3):202-11.  > Lien vers l'extrait

Chen MH. et al. Evaluation of approaches to identify associated SNPs that explain the linkage evidence in nuclear families with affected siblings. Hum Hered. 2010; 69(2):104-19. > Lien vers l'extrait




Monnot S. et al. Segregation of mtDNA Throughout Human Embryofetal Development: m.3243A>G as a Model System. Hum Mutat. 2010 Nov 30. [Epub ahead of print]  > Lien vers l'extrait

Thomas S. et al. High-throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy. Hum Mutat. 2010 Oct; 31(10):1134-41.  > Lien vers l'extrait

Ruemmele FM. et al. Loss-of-function of MYO5B is the main cause of microvillus inclusion disease: 15 novel mutations and a CaCo-2 RNAi cell model. Hum Mutat. 2010 May; 31(5):544-51.  > Lien vers l'extrait

Perrault I. et al. Spectrum of SPATA7 mutations in Leber congenital amaurosis and delineation of the associated phenotype. Hum Mutat. 2010 Mar; 31(3):E1241-50. > Lien vers l'extrait

Cluzeau C. et al. Only four genes (EDA1, EDAR, EDARADD and WNT10A) account for 90 % of hypohidrotic/anhidrotic ectodermal dysplasia cases. Hum Mutat. 2010.  > Lien vers l'extrait

Laugel V. et al. Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. Hum Mutat. 2010 Feb; 31(2):113-26.  > Lien vers l'extrait

Khau Van Kien P. et al. Missense mutations of conserved glycine residues in fibrillin-1 highlight a potential subtype of cb-EGF-like domains. Hum Mutat. 2010 Jan; 31(1):E1021-42.  > Lien vers l'extrait

Huber C. et al. OBSL1 mutations in 3-M syndrome are associated with a modulation of IGFBP2 and IGFBP5 expression levels. Hum Mutat. 2010 Jan; 31(1):20-26. > Lien vers l'extrait

Durandy A. et al. Activation-induced cytidine deaminase: structure-function relationship as based on the study of mutants. Hum Mutat. 2006; 27:1185-91. > Lien vers l'extrait




Fischer A. et al. Gene therapy for primary immunodeficiencies. Immunol Allergy Clin North Am. 2010 May; 30(2):237-48.  > Lien vers l'extrait

Picard C. et al. Hematopoietic stem cell transplantation and other management strategies for MHC class II deficiency. Immunol Allergy Clin North Am. 2010 May; 30(2):173-8.  > Lien vers l'extrait




Pachlopnik Schmid J. et al. Inherited defects in lymphocyte cytotoxic activity. Immunol Rev. 2010 May; 235(1):10-23.  > Lien vers l'extrait




Reimann C. et al. Advances in adoptive immunotherapy to accelerate T-cellular immune reconstitution after HLA-incompatible hematopoietic stem cell transplantation. Immunotherapy 2010 Jul;2(4):481-96. > Lien vers l'extrait


Inflammatory Bowel Diseases
Levine A. et al. Pediatric modification of the Montreal classification for inflammatory bowel disease: The Paris classification. Inflamm Bowel Dis. 2010 Nov 8. [Epub ahead of print]. > Lien vers l'extrait

Pigneur B. et al. Natural history of Crohn's disease: comparison between childhood- and adult-onset disease. Inflamm Bowel Dis. 2010 Jun; 16(6):953-61. > Lien vers l'extrait





Pedraza-Sanchez S. et al. Bacille Calmette-Guerin infection and disease with fatal outcome associated with a point mutation in the interleukin-12/interleukin-23 receptor beta-1 chain in two Mexican families. Int J Infect Dis. 2010 Sep; 14 Suppl 3:e256-60.  > Lien vers l'extrait

Marazzi MG. et al. Disseminated Mycobacterium scrofulaceum infection in a child with interferon-gamma receptor 1 deficiency. Int J Infect Dis. 2010 Feb; 14(2):e167-70.  > Lien vers l'extrait

Singh N. et al. Zygomycosis in solid organ transplant recipients: a prospective, matched case-control study to assess risks for disease and outcome. J Infect Dis. 2009 Sep 15; 200(6):1002-11. > Lien vers l'extrait




Gallant CJ. et al. Impact of age and sex on mycobacterial immunity in an area of high tuberculosis incidence. Int J Tuberc Lung Dis. 2010 Aug; 14(8):952-9.  > Lien vers l'extrait




Chaabouni M. et al. Identification of the IRXB gene cluster as candidate genes in severe dysgenesis of the ocular anterior segment. Invest Ophthalmol Vis Sci. 2010 Sep; 51(9):4380-6.  > Lien vers l'extrait





Cohen-Cymberknoh M. et al. Late-onset central hypoventilation presenting as extubation failure. Isr Med Assoc J. 2010 Apr; 12(4):249-50.  > Lien vers l'extrait




Marodi L. et al. Primary immunodeficiencies may reveal potential infectious diseases associated with immune-targeting mAb treatments. J Allergy Clin Immunol. 2010 Nov; 126(5):910-7.  > Lien vers l'extrait




Oji V. et al. Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009. J Am Acad Dermatol. 2010 Oct; 63(4):607-41.  > Lien vers l'extrait




Malivert L. et al. Delineation of the Xrcc4-interacting Region in the Globular Head Domain of Cernunnos/XLF. J Biol Chem. 2010 Aug 20; 285(34):26475-83.  > Lien vers l'extrait

Callebaut I. et al. Cernunnos interacts with the XRCC4 x DNA-ligase IV complex and is homologous to the yeast nonhomologous end-joining factor Nej1. J Biol Chem. 2006; 281:13857-60. > Lien vers l'extrait





Nectoux J. et al. Cell cloning-based transcriptome analysis in Rett patients: relevance to the pathogenesis of Rett syndrome of new human MeCP2 target genes. J Cell Mol Med. 2010 Jul; 14(7):1962-74.  > Lien vers l'extrait




Molla-Herman A. et al. The ciliary pocket: an endocytic membrane domain at the base of primary and motile cilia. J Cell Sci. 2010 May 15; 123(Pt 10):1785-95. > Lien vers l'extrait



Leclerc-Mercier S. et al. Early skin biopsy is helpful for the diagnosis and management of neonatal and infantile erythrodermas. J Cutan Pathol. 2010 Feb; 37(2):249-55. Epub 2009 Jul 13.  > Lien vers l'extrait




Goujon E. et al. 'Matchstick' eyebrow hairs: a dermoscopic clue to the diagnosis of Netherton syndrome. J Eur Acad Dermatol Venereol. 2010 Jun; 24(6):740-1.  > Lien vers l'extrait




Aboussair N. et al. First North African observation of Leber congenital amaurosis secondary to CEP290 gene mutation]. J Fr Ophtalmol. 2010 Feb; 33(2):117.e1-5. > Lien vers l'extrait




Lochner M. et al. Restricted Microbiota and Absence of Cognate TCR Antigen Leads to an Unbalanced Generation of Th17 Cells. J Immunol. 2010 Dec 22. [Epub ahead of print]  > Lien vers l'extrait

Fabre S. et al. G.FOXO1 regulates L-Selectin and a network of human T cell homing molecules downstream of phosphatidylinositol 3-kinase. J Immunol. 2008 Sep 1; 181(5):2980-9. > Lien vers l'extrait





Lazaro FP. et al. A major gene controls leprosy susceptibility in a hyperendemic isolated population from north of Brazil. J Infect Dis. 2010 May 15; 201:1598-605.  > Lien vers l'extrait

Cobat A. et al. High heritability of antimycobacterial immunity in an area of hyperendemicity for tuberculosis disease. J Infect Dis. 2010 Jan; 201:15-9.  > Lien vers l'extrait





Tolar J. et al. Induced Pluripotent Stem Cells from Individuals with Recessive Dystrophic Epidermolysis Bullosa. J Invest Dermatol. 2010 Dec 2. [Epub ahead of print]  > Lien vers l'extrait

Briot A. et al. Par2 inactivation inhibits early production of TSLP, but not cutaneous inflammation, in Netherton syndrome adult mouse model.  J Invest Dermatol. 2010 Dec; 130(12):2736-42. Epub 2010 Aug 12.  > Lien vers l'extrait





Cavalcanti DP. et al. Mutation in IFT80 gene in a foetus with a phenotype of Verma-Naumoff provides molecular evidence for the Jeune-Verma-Naumoff dysplasia spectrum. J Med Genet. 2010. In press.  > Lien vers l'extrait

Willems M. et al. Molecular analysis of Pericentrin gene (PCNT) in a series of 24 Seckel/ MOPD II families. J Med Genet. 2010 Dec;47(12):797-802.  > Lien vers l'extrait

Putoux A. et al. BBS10 mutations are common in 'Meckel'-type cystic kidneys. J Med Genet. 2010 Dec; 47(12):848-52.  > Lien vers l'extrait

Papon JF. et al. Abnormal respiratory cilia in non-syndromic Leber congenital amaurosis with CEP290 mutations. J Med Genet. 2010 Dec; 47(12):829-34. > Lien vers l'extrait

Otto EA. et al. Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy. J Med Genet. 2010 Nov 10. [Epub ahead of print]  > Lien vers l'extrait

Lebre AS. et al. A common pattern of brain MRI imaging in mitochondrial diseases with complex I deficiency. J Med Genet. 2010 Oct 23. [Epub ahead of print]  > Lien vers l'extrait

Cardenes M. et al. Oesophageal squamous cell carcinoma in a young adult with IL-12R beta 1 deficiency. J Med Genet. 2010 Sep; 47: 635-7.  > Lien vers l'extrait

Bonnet C. et al. Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speech. J Med Genet. 2010 Jun;47(6):377-84.  > Lien vers l'extrait




Nectoux J. et al. Cell cloning-based transcriptome analysis in cyclin-dependent kinase-like 5 mutation patients with severe epileptic encephalopathy. J Mol Med. 2010 Nov 24. [Epub ahead of print].  > Lien vers l'extrait

Hovnanian A. Modifier genes in pseudoxanthoma elasticum: novel insights from the Ggcx mouse model. J Mol Med. 2010 Feb; 88(2):149-53. Epub 2010 Feb 11.  > Lien vers l'extrait




Hervier B. et al. An atypical case of X-linked lymphoproliferative disease revealed as a late cerebral lymphoma. J Neuroimmunol. 2010 Aug; 10(8):568-79.  > Lien vers l'extrait

Hervier B. et al. An atypical case of X-linked lymphoproliferative disease revealed as a late cerebral lymphoma. J Neuroimmunol. 2010 Jan; 218(1-2):125-8.  > Lien vers l'extrait




Heuvelin E. et al. A Bifidobacterium probiotic strain and its soluble factors alleviate chloride secretion by human intestinal epithelial cells. J Nutr. 2010 Jan;140(1):7-11.  > Lien vers l'extrait






Abel L. et al. Age-dependent mendelian predisposition to herpes simplex virus type 1 encephalitis in childhood. J Pediatr. 2010 Oct; 157:623-9 e1. > Lien vers l'extrait

Mahlaoui N. et al. Isolated Congenital Asplenia: A French Nationwide Retrospective Survey of 20 Cases. J Pediatr. Epub 2010 Sep 16.  > Lien vers l'extrait

Moschese V. et al. A novel form of non-X-linked hyperigm associated with growth and pubertal disturbances and with lymphoma development. J Pediatr. 2006; 148:404-6. > Lien vers l'extrait





Rubio A. et al. Chronic iron-deficiency anemia caused by a jejunojejunal intussusception on a solitary hamartomatous polyp. J Pediatr Gastroenterol Nutr. 2010 Apr;50(4):450-2. > No abstract available




Fourcade L.M. et al. A new rat model of prenatal bowel obstruction: development and early assessment. J Pediatr Surg. 2010 Mar; 45(3):499-506. > Lien vers l'extrait




Patey-Mariaud de Serre N. et al. Collagen alpha5 and alpha2(IV) chain coexpression: Analysis of skin biopsies of Alport patients. Kidney Int. 2007 Aug; 72(4):512-6. > Lien vers l'extrait

Anglicheau D. et al. Role of P-glycoprotein in cyclosporine cytotoxicity in the cyclosporine-sirolimus interaction. Kidney Int. 2006 Sep; 70(6):1019-25.  > Lien vers l'extrait

Pallet N. et al. Rapamycin inhibits human renal epithelial cell proliferation: effect on cyclin D3 mRNA expression and stability. Kidney Int. 2005 Jun; 67(6):2422-33.  > Lien vers l'extrait




Jais, J.P. et al. The expression of 16 genes related to the cell of origin and immune response predicts survival in elderly patients with diffuse large B-cell lymphoma treated with CHOP and rituximab. Leukemia 2008; 22(10):1917-24. > Lien vers l'extrait

Mamm Genome

Réduire


Alter A. et al. Leprosy as a genetic disease. Mamm Genome 2010 Oct 9. [Epub ahead of print]  > Lien vers l'extrait




Bonnart C. et al. [Elastase 2, a key player in the integrity of the epidermal barrier and in Netherton syndrome]. Med Sci. (Paris) 2010 Aug-Sep; 26(8-9):681-5. French.  > Lien vers l'extrait

Turleau C. et al. [Trisomy 21: fifty years between medicine and science]. Med Sci. (Paris) 2010 Mar; 26(3):267-72.  > Lien vers l'extrait



de Beaucoudrey L. et al. Revisiting human IL-12Rβ1 deficiency: a survey of 141 patients from 30 countries. Medicine (Baltimore) 2010 Nov; 89(6):381-402.  > Lien vers l'extrait

Picard C. et al. Clinical features and outcome of patients with IRAK-4 and MyD88 deficiency. Medicine (Baltimore) 2010 Nov. 89(6):403-25.  > Lien vers l'extrait





Valayannopoulos V. et al. New SUCLG1 patients expanding the phenotypic spectrum of this rare cause of mild methylmalonic aciduria. Mitochondrion 2010 Jun; 10(4):335-4.  > Lien vers l'extrait




Edouard T. et al. Functional effects of PTPN11 (SHP2) mutations causing LEOPARD syndrome on epidermal growth factor-induced phosphoinositide 3-kinase/AKT/glycogen synthase kinase 3beta signaling. Mol Cell Biol. 2010 May; 30(10):2498-507.  > Lien vers l'extrait

Malivert L. et al. The C-Terminal domainof Cernunnos/XLF is dispensable for DNA repair in vivo. Mol Cell Biol. 2009; 29:1116-1122. > Lien vers l'extrait

Storck S. et al. Normal Immune System Development in Mice Lacking the Deltex-1 RING Finger Domain. Mol Cell Biol. 2005; 25(4):1437-45. > Lien vers l'extrait

Savouret C. et al. MSH2-dependent germinal CTG repeat expansions are produced continuously in spermatogonia from DM1 transgenic mice. Mol Cell Biol. 2004; 24:629-637. > Lien vers l'extrait




Leticee N. et al. Should PMM2-deficiency (CDG Ia) be searched in every case of unexplained hydrops fetalis? Mol Genet Metab. 2010 Oct-Nov; 101(2-3):253-7.  > Lien vers l'extrait

Valayannopoulos V. et al. Cognitive and neuroradiological improvement in three patients with attenuated MPS I treated by laronidase. Mol Genet Metab. 2010 May; 100(1):20-3. > Lien vers l'extrait





Titeux M. et al. SIN retroviral vectors expressing COL7A1 under human promoters for ex vivo gene therapy of recessive dystrophic epidermolysis bullosa. Mol Ther. 2010 Aug; 18(8):1509-18. > Lien vers l'extrait

Ginn SL. et al. Lymphomagenesis in SCID-X1 mice following lentivirus-mediated phenotype correction independent of insertional mutagenesis and gamma c overexpression. Mol Ther. 2010 May;18(5):965-76.  > Lien vers l'extrait

Benjelloun F. et al. Stable and Functional Lymphoid Reconstitution in Artemis-deficient Mice Following Lentiviral Artemis Gene Transfer Into Hematopoietic Stem Cells. Mol Ther. 2008; 16(8):1490-9. > Lien vers l'extrait
Lorain S. et al. Transient immunomodulation allows repeated injections of AAV1 and correction of muscular dystrophy in multiple muscles. Mol Ther. 2008; 16:541-7. > Lien vers l'extrait

Fougerousse F. et al. Phenotypic Correction of alpha-Sarcoglycan Defi ciency by Intra-arterial Injection of a Muscle-specifi c Serotype 1 rAAV Vector. Mol Ther. 2007; 15:53-61. > Lien vers l'extrait

Bartoli M. et al. Safety and effi cacy of AAV-mediated calpain 3 gene transfer in a mouse model of limb-girdle muscular dystrophy type 2A. Mol Ther. 2006; 13:250-259. > Lien vers l'extrait





Zerbib J. et al. R102G polymorphism of the C3 gene associated with exudative age-related macular degeneration in a French population. Mol Vis. 2010 Jul 15; 16:1324-30. > Lien vers l'extrait

Raji B. et al. The RNA-binding protein Musashi-1 is produced in the developing and adult mouse eye. Mol Vis. 2007; 13:1412-27. > Lien vers l'extrait





Menard S. et al. Multiple facets of intestinal permeability and epithelial handling of dietary antigens. Mucosal Immunol. 2010 May; 3(3):247-59. > Lien vers l'extrait




Cerf-Bensussan N. et al. The immune system and the gut microbiota: friends or foes? Nat Rev Immunol. 2010 Oct.; 10(10):735-744. > Lien vers l'extrait

de Saint Basile G. et al. Molecular mechanisms of biogenesis and exocytosis of cytotoxic granules. Nat Rev Immunol. 2010 Aug; 10(8):568-79.  > Lien vers l'extrait

Marodi L. et al. Can primary immunodeficiencies help to provide insights into infectious risks of therapeutic antibodies? Nat Rev Immunol. 2010 May; 10(5):299-300.  No abstract available



Cleary JD. et al. Tissue- and age-specific DNA replication patterns at the human myotonic dystrophy type 1 locus: implication for CTG/CAG repeat instability. Nature Structural & Molecular Biology 2010; 17(9):1079-87.  > Lien vers l'extrait




Goldberg S. et al. Glomerular filtration is normal in the absence of both agrin and perlecan-heparan sulfate from the glomerular basement membrane. Nephrol Dial Transplant. 2009; 24:2044-51. > Lien vers l'extrait

Gross O. et al. Stem cell therapy for Alport syndrome: the hope beyond the hype. Nephrol Dial Transplant. 2009; 24:731-34. > Lien vers l'extrait
Nestle Nutrition Workshop Series. Paediatric Programme

Ruemmele F. Molecular mechanisms of pediatric nutrition. Nestle Nutr Workshop Ser Pediatr Program. 2010; 66:55-64.  > Lien vers l'extrait


Galmiche L. et al. Normal oxidative phosphorylation in intestinal smooth muscle of childhood chronic intestinal pseudo-obstruction. Neurogastroenterol Motil. 2010 Sep 14. [Epub ahead of print] 




Rio M. et al. Mitochondrial ND5 mutations mimicking brainstem tectal glioma. Neurology 2010 Jul 6; 75(1):93.  > Lien vers l'extrait




Vignaud A. et al. Progressive skeletal muscle weakness in transgenic mice expressing CTG expansions is associated with the activation of the ubiquitin-proteasome pathway. Neuromuscular Disorders 2010 May; 20(5):319-25.  > Lien vers l'extrait




Wang GP. et al. DNA bar coding and pyrosequencing to analyze adverse events in therapeutic gene transfer. Nucleic Acids Res. 2008; 36:e49. > Lien vers l'extrait


Le Corre L. et al. Synthesis and biological evaluation of a triazole-based library of pyrido[2,3-d]pyrimidines as FGFR3 tyrosine kinase inhibitors. Org Biomol Chem. 2010 May 7; 8(9):2164-73.  > Lien vers l'extrait




Héritier S. et al. Retrospective French nationwide survey of childhood aggressive vascular anomalies of bone, 1988-2009. Orphanet J Rare Dis. 2010 Feb 3; 5:3. > Lien vers l'extrait




Bonneau D. et al. [Genetic testing in the context of the revision of the French law on bioethics]. Pathol Biol (Paris) 2010 Oct; 58(5):396-401. Epub 2010 Feb 8. > Lien vers l'extrait




Georgin-Lavialle S. et al. Accessory spleen: differential diagnosis for lymphoma in autoimmune lymphoproliferative syndrome. Pediatr Blood Cancer 2010 Jul 1; 54(7):1020-2.  > Lien vers l'extrait





Szablocs P. et al. Bone marrow transplantation for primary immunodeficiency diseases. Pediatr Clin N Am. 2010 Feb; 57(1):207-37.  > Lien vers l'extrait





Averbuch D. et al. The Clinical Spectrum of Patients with Deficiency of Signal Transducer and Activator of Transcription-1. Pediatr Infect Dis J. 2010 Oct 19. [Epub ahead of print]  > Lien vers l'extrait




Sahin G. et al. Classic Kaposi sarcoma in 3 unrelated Turkish children born to consanguineous kindreds. Pediatrics 2010 Mar; 125(3):e704-e708.  > Lien vers l'extrait




Wodarczyk C. et al. Nephrocystin-1 forms a complex with polycystin-1 via a polyproline motif/SH3 domain interaction and regulates the apoptotic response in mammals. PLoS One 2010 Sep 14;5(9):e12719. > Lien vers l'extrait





Gomes-Pereira M. et al. CTG trinucleotide repeat “big jumps”: large expansions, small mice. PloS Genetics 2007; 6-3(4):epub52. > Lien vers l'extrait





Gérardin P. Multidisciplinary prospective study of mother-to-child chikungunya virus infections on the island of La Réunion. PLoS Medicine 2008. 5(3):p. e60. > Lien vers l'extrait

Dromer F. et al. Determinants of disease presentation and outcome during cryptococcosis: the CryptoA/D study. PLoS Med. 2007 Feb; 4(2):e21. > Lien vers l'extrait




Couderc T. et al. A mouse model for Chikungunya infection: young age and inefficient type-I interferon signaling are risk factors for severe disease. PLoS Pathog. 2008 4(2): p. e29. > Lien vers l'extrait




Dallocchio A. et al. Occurrence of inflammatory bowel disease during treatment of juvenile idiopathic arthritis with etanercept: a French retrospective study. Rheumatology (Oxford) 2010 Sep;49(9):1694-1698. > Lien vers l'extrait




Fischer A. et al. ZAP70: a master regulator of adaptive immunity. Semin Immunopathol. 2010 Jun; 32(2):107-16.  > Lien vers l'extrait




Landais P. et al. CEMARA an information systemfor rare diseases. Stud Health Technol Inform. 2010; 160(Pt 1):481-5. > Lien vers l'extrait


Loupy A. et al. Combined posttransplant prophylactic IVIg/anti-CD 20/plasmapheresis in kidney recipients with preformed donor-specific antibodies: a pilot study. Transplantation 2010; 89:1403-10.  > Lien vers l'extrait