Genomes and Genes
Experts and Doctors on pedigree in Paris, Île de France, France
Locale: Paris, Île de France, France
Publications188 found, 100 shown here
- Amiel J, Espinosa Parrilla Y, Steffann J, Gosset P, Pelet A, Prieur M, et al. Large-scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline structures. Am J Hum Genet. 2001;69:1370-7 pubmed..Thus, SMADIP1, which encodes a transcriptional corepressor of Smad target genes, may play a role not only in the patterning of neural-crest-derived cells and of CNS but also in the development of midline structures in humans. ..
- Noizat Pirenne F, Le Pennec P, Mouro I, Rouzaud A, Juszczak G, Roussel M, et al. Molecular background of D(C)(e) haplotypes within the white population. Transfusion. 2002;42:627-33 pubmed..Serologic analysis showed that together with Hor and Mol sera testing, the use of different C and e MoAbs could help to identify these variants within the white population. ..
- Gerber S, Perrault I, Hanein S, Shalev S, Zlotogora J, Barbet F, et al. A novel mutation disrupting the cytoplasmic domain of CRB1 in a large consanguineous family of Palestinian origin affected with Leber congenital amaurosis. Ophthalmic Genet. 2002;23:225-35 pubmed..Interestingly, this deletion disrupts an amino acid sequence that was shown to be crucial for the function of the protein in the Drosophila counterpart (CRB). ..
- Romero N, Monnier N, Viollet L, Cortey A, Chevallay M, Leroy J, et al. Dominant and recessive central core disease associated with RYR1 mutations and fetal akinesia. Brain. 2003;126:2341-9 pubmed..This is the first report of mutations in the RYR1 gene involved in a severe form of CCD presenting as a fetal akinesia syndrome with AD and AR inheritances...
- Perrault I, Hanein S, Gerber S, Barbet F, Ducroq D, Dollfus H, et al. Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis. Am J Hum Genet. 2004;75:639-46 pubmed..1%). Interestingly, all patients harboring RDH12 mutations had a severe yet progressive rod-cone dystrophy with severe macular atrophy but no or mild hyperopia. ..
- Duchatelet S, Ostergaard E, Cortes D, Lemainque A, Julier C. Recessive mutations in PTHR1 cause contrasting skeletal dysplasias in Eiken and Blomstrand syndromes. Hum Mol Genet. 2005;14:1-5 pubmed..To our knowledge, this is the first description of opposite manifestations resulting from distinct recessive mutations in the same gene. ..
- Bergametti F, Denier C, Labauge P, Arnoult M, Boetto S, Clanet M, et al. Mutations within the programmed cell death 10 gene cause cerebral cavernous malformations. Am J Hum Genet. 2005;76:42-51 pubmed..It is highly conserved in both vertebrates and invertebrates. Its implication in cerebral cavernous malformations strongly suggests that it is a new player in vascular morphogenesis and/or remodeling. ..
- Mikol J, Vital C, Wassef M, Chappuis P, Poupon J, Lecharpentier M, et al. Extensive cortico-subcortical lesions in Wilson's disease: clinico-pathological study of two cases. Acta Neuropathol. 2005;110:451-8 pubmed..Cerebral copper content in white matter and putamen of case 1 was at the same level as in common WD but accumulation of unbound copper in the white matter was a distinctive feature, which suggested a pathological neurotoxic effect. ..
- Lebon S, Minai L, Chretien D, Corcos J, Serre V, Kadhom N, et al. A novel mutation of the NDUFS7 gene leads to activation of a cryptic exon and impaired assembly of mitochondrial complex I in a patient with Leigh syndrome. Mol Genet Metab. 2007;92:104-8 pubmed..These results report the first intronic NDUFS7 gene mutation and demonstrate the crucial role of NDUFS7 in the biogenesis of complex I...
- Vogt G, Bustamante J, Chapgier A, Feinberg J, Boisson Dupuis S, Picard C, et al. Complementation of a pathogenic IFNGR2 misfolding mutation with modifiers of N-glycosylation. J Exp Med. 2008;205:1729-37 pubmed publisher..Some of these compounds are available for clinical use, paving the way for clinical trials of chemical complementation for various human genetic traits. ..
- Depienne C, Bouteiller D, Keren B, Cheuret E, Poirier K, Trouillard O, et al. Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females. PLoS Genet. 2009;5:e1000381 pubmed publisher..This disorder mainly affects females. The identification of an affected mosaic male strongly supports the hypothesis that cellular interference is the pathogenic mechanism. ..
- Querques G, Zerbib J, Santacroce R, Margaglione M, Delphin N, Rozet J, et al. Functional and clinical data of Best vitelliform macular dystrophy patients with mutations in the BEST1 gene. Mol Vis. 2009;15:2960-72 pubmed..001). BEST1 mutations were not correlated with the severity of the functional and clinical data in the Best VMD patients examined. ..
- Esteves T, Durr A, Mundwiller E, Loureiro J, Boutry M, Gonzalez M, et al. Loss of association of REEP2 with membranes leads to hereditary spastic paraplegia. Am J Hum Genet. 2014;94:268-77 pubmed publisher..They have also important implications for genetic diagnosis and counseling in clinical practice because of the association of various modes of inheritance to this new clinico-genetic entity...
- Porta F, Mussa A, Baldassarre G, Perduca V, Farina D, Spada M, et al. Genealogy of breastfeeding. Eur J Pediatr. 2016;175:105-12 pubmed publisher..Maternal breastfeeding is the most important factor addressing daughters' breastfeeding outcome. This behavior is transmitted transgenerationally, with features suggesting epigenetic mechanisms. ..
- Vincent C, Kalatzis V, Compain S, Levilliers J, Slim R, Graia F, et al. A proposed new contiguous gene syndrome on 8q consists of Branchio-Oto-Renal (BOR) syndrome, Duane syndrome, a dominant form of hydrocephalus and trapeze aplasia; implications for the mapping of the BOR gene. Hum Mol Genet. 1994;3:1859-66 pubmed..The 8q12.2-q21.2 deletion suggests that reduced dosage of the relevant genes is sufficient to cause Duane syndrome, BOR syndrome and this dominant form of hydrocephalus. ..
- Bonne G, Di Barletta M, Varnous S, Becane H, Hammouda E, Merlini L, et al. Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. Nat Genet. 1999;21:285-8 pubmed..Together with mutations in EMD (refs 5,6), they underscore the potential importance of the nuclear envelope components in the pathogenesis of neuromuscular disorders...
- Denier C, Labauge P, Brunereau L, Cavé Riant F, Marchelli F, Arnoult M, et al. Clinical features of cerebral cavernous malformations patients with KRIT1 mutations. Ann Neurol. 2004;55:213-20 pubmed..Altogether these data suggest that the hereditary nature of the disorder may be overlooked in some mutation carriers presenting as sporadic cases with a unique lesion. ..
- Sancho Shimizu V, Pérez de Diego R, Lorenzo L, Halwani R, Alangari A, Israelsson E, et al. Herpes simplex encephalitis in children with autosomal recessive and dominant TRIF deficiency. J Clin Invest. 2011;121:4889-902 pubmed publisher..They further demonstrate the importance of TRIF for the TLR3-dependent production of antiviral IFNs in the CNS during primary infection with HSV-1 in childhood. ..
- Alves de Medeiros A, Lodewick E, Bogaert D, Haerynck F, Van Daele S, Lambrecht B, et al. Chronic and Invasive Fungal Infections in a Family with CARD9 Deficiency. J Clin Immunol. 2016;36:204-9 pubmed publisher..Patients with recurrent fungal infections in the absence of known immunodeficiencies should be analyzed for CARD9 gene mutations as the cause of fungal infection predisposition. ..
- Hadchouel M, Farza H, Simon D, Tiollais P, Pourcel C. Maternal inhibition of hepatitis B surface antigen gene expression in transgenic mice correlates with de novo methylation. Nature. 1987;329:454-6 pubmed
- Huetz F, Mariotti M, Lucotte G. Taq I restriction polymorphism of HLA class-I genes, and hybridization with HLA-A and HLA-B specific probes. Exp Clin Immunogenet. 1987;4:1-7 pubmed..For each of these two loci, a frequent polymorphism was described, which correlated with serologic haplotypes in several families studied. ..
- Cartier N, Sarde C, Douar A, Mosser J, Mandel J, Aubourg P. Abnormal messenger RNA expression and a missense mutation in patients with X-linked adrenoleukodystrophy. Hum Mol Genet. 1993;2:1949-51 pubmed..These results provide further evidence that this candidate gene is indeed the ALD gene...
- Plassart E, Reboul J, Rime C, Recan D, Millasseau P, Eymard B, et al. Mutations in the muscle sodium channel gene (SCN4A) in 13 French families with hyperkalemic periodic paralysis and paramyotonia congenita: phenotype to genotype correlations and demonstration of the predominance of two mutations. Eur J Hum Genet. 1994;2:110-24 pubmed..Recurrent mutations of SCN4A may contribute to the predominance of these two mutations in the French population. ..
- Chaib H, Place C, Salem N, Dode C, Chardenoux S, Weissenbach J, et al. Mapping of DFNB12, a gene for a non-syndromal autosomal recessive deafness, to chromosome 10q21-22. Hum Mol Genet. 1996;5:1061-4 pubmed..Each of these mouse mutants is a candidate mouse model for the DFNB12-associated hearing impairment. ..
- Collod G, Chu M, Sasaki T, Coulon M, Timpl R, Renkart L, et al. Fibulin-2: genetic mapping and exclusion as a candidate gene in Marfan syndrome type 2. Eur J Hum Genet. 1996;4:292-5 pubmed..Furthermore, two-point lod scores were generated between these markers and anonymous markers arrayed on the genetic map of 3p and closely linked to MFS2. These analyses placed FBLN2 at marker D3S1585. ..
- Des Portes V, Pinard J, Smadja D, Motte J, Boespflug Tanguy O, Moutard M, et al. Dominant X linked subcortical laminar heterotopia and lissencephaly syndrome (XSCLH/LIS): evidence for the occurrence of mutation in males and mapping of a potential locus in Xq22. J Med Genet. 1997;34:177-83 pubmed..In addition, haplotype inheritance in two families showed a grandpaternal origin of the mutation and suggested in one family the presence of mosaicism in germline cells of normal transmitting males. ..
- Tredano M, De Blic J, Griese M, Fournet J, Elion J, Bahuau M. Clinical biological and genetic heterogeneity of the inborn errors of pulmonary surfactant metabolism. Clin Chem Lab Med. 2001;39:90-108 pubmed..The disentanglement of this disease cluster is however essential to propose specific therapeutic procedures: repeated broncho-alveolar lavages, GM-CSF replacement, bone marrow grafting or lung transplantation...
- Gerber S, Perrault I, Hanein S, Barbet F, Ducroq D, Ghazi I, et al. Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis. Eur J Hum Genet. 2001;9:561-71 pubmed..In total, eight distinct mutations (5 out of 8 truncating) in 8/93 patients were found. So far this gene accounts for eight out of 142 LCA cases in our series (5.6%). ..
- Le Ber I, Bouslam N, Rivaud Pechoux S, Guimaraes J, Benomar A, Chamayou C, et al. Frequency and phenotypic spectrum of ataxia with oculomotor apraxia 2: a clinical and genetic study in 18 patients. Brain. 2004;127:759-67 pubmed..In adults, AOA2 may be, therefore, the most frequent cause of ARCA identified so far, after Friedreich's ataxia...
- de la Houssaye G, Bieche I, Roche O, Vieira V, Laurendeau I, Arbogast L, et al. Identification of the first intragenic deletion of the PITX2 gene causing an Axenfeld-Rieger Syndrome: case report. BMC Med Genet. 2006;7:82 pubmed..The molecular genetics of some ARS pedigrees should be re-examined with enzymes that can amplify medium and large genomic fragments. ..
- Arzel Hézode M, Sternberg D, Tabti N, Vicart S, Goizet C, Eymard B, et al. Homozygosity for dominant mutations increases severity of muscle channelopathies. Muscle Nerve. 2010;41:470-7 pubmed publisher..Overall, this study has practical consequences for the diagnosis of muscle channelopathies and raises new questions about their pathophysiology. ..
- Leutenegger A, Sahbatou M, Gazal S, Cann H, Genin E. Consanguinity around the world: what do the genomic data of the HGDP-CEPH diversity panel tell us?. Eur J Hum Genet. 2011;19:583-7 pubmed publisher..There are thus some regional trends but there are also some important differences between populations within a region. Individual results can be found on the CEPH website at ftp://ftp.cephb.fr/hgdp_hbd/. ..
- Niel Bütschi F, Kantelip B, Iwaszkiewicz J, Zoete V, Boimard M, Delpech M, et al. Genotype-phenotype correlations of TGFBI p.Leu509Pro, p.Leu509Arg, p.Val613Gly, and the allelic association of p.Met502Val-p.Arg555Gln mutations. Mol Vis. 2011;17:1192-202 pubmed..The p.Leu509Pro was reported to be associated with both amyloid and non-amyloid aggregates, whereas p.Leu509Arg has been described as being responsible for Epithelial Basement Membrane Dystrophy (EBMD). ..
- Nehme N, Schmid J, Debeurme F, Andre Schmutz I, Lim A, Nitschke P, et al. MST1 mutations in autosomal recessive primary immunodeficiency characterized by defective naive T-cell survival. Blood. 2012;119:3458-68 pubmed publisher..Our results characterize a new mechanism in primary T-cell immunodeficiencies and highlight a role of the MST1/FOXO1 pathway in controlling the death of human naive T cells. ..
- Audo I, Bujakowska K, Leveillard T, Mohand Said S, Lancelot M, Germain A, et al. Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases. Orphanet J Rare Dis. 2012;7:8 pubmed publisher..However, these methods are time consuming, expensive and unable to provide a result if the patient carries a new gene mutation. In addition, multiplicity of phenotypes associated with the same gene defect may be overlooked...
- Halim D, Hofstra R, Signorile L, Verdijk R, Van Der Werf C, Sribudiani Y, et al. ACTG2 variants impair actin polymerization in sporadic Megacystis Microcolon Intestinal Hypoperistalsis Syndrome. Hum Mol Genet. 2016;25:571-83 pubmed publisher..Taken together, our results confirm the involvement of ACTG2 in sporadic MMIHS, and bring new insights to MMIHS pathogenesis. ..
- Lesage S, Drouet V, Majounie E, Deramecourt V, Jacoupy M, Nicolas A, et al. Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy. Am J Hum Genet. 2016;98:500-513 pubmed publisher..This work suggests that loss of function of VPS13C is a cause of autosomal-recessive early-onset parkinsonism with a distinctive phenotype of rapid and severe progression. ..
- Salpietro V, Lin W, Delle Vedove A, Storbeck M, Liu Y, Efthymiou S, et al. Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndrome. Ann Neurol. 2017;81:597-603 pubmed publisher..Taken together, our findings highlight VAMP1 homozygous mutations as a cause of presynaptic CMS. Ann Neurol 2017;81:597-603. ..
- Froguel P, Vaxillaire M, Sun F, Velho G, Zouali H, Butel M, et al. Close linkage of glucokinase locus on chromosome 7p to early-onset non-insulin-dependent diabetes mellitus. Nature. 1992;356:162-4 pubmed..Because glucokinase is a key enzyme of blood glucose homeostasis, these results are evidence that a gene involved in glucose metabolism could be implicated in the pathogenesis of NIDDM. ..
- Fuchshuber A, Jean G, Gribouval O, Gubler M, Broyer M, Beckmann J, et al. Mapping a gene (SRN1) to chromosome 1q25-q31 in idiopathic nephrotic syndrome confirms a distinct entity of autosomal recessive nephrosis. Hum Mol Genet. 1995;4:2155-8 pubmed..Exclusion of linkage to the entire region in one family proves genetic heterogeneity. ..
- Vincent C, Kalatzis V, Abdelhak S, Chaib H, Compain S, Helias J, et al. BOR and BO syndromes are allelic defects of EYA1. Eur J Hum Genet. 1997;5:242-6 pubmed..These results demonstrate that EYA1 also underlies BO syndrome, and that BOR and BO syndromes are allelic defects of this gene. ..
- Boute N, Gribouval O, Roselli S, Benessy F, Lee H, Fuchshuber A, et al. NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome. Nat Genet. 2000;24:349-54 pubmed..We found ten different NPHS2 mutations, comprising nonsense, frameshift and missense mutations, to segregate with the disease, demonstrating a crucial role for podocin in the function of the glomerular filtration barrier. ..
- Nicole S, Davoine C, Topaloglu H, Cattolico L, Barral D, Beighton P, et al. Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia). Nat Genet. 2000;26:480-3 pubmed..In so doing, we have identified the first human mutations in HSPG2, which underscore the importance of perlecan not only in maintaining cartilage integrity but also in regulating muscle excitability. ..
- Thauvin Robinet C, El Ghouzzi V, Chemaitilly W, Dagoneau N, Boute O, Viot G, et al. Homozygosity mapping of a Dyggve-Melchior-Clausen syndrome gene to chromosome 18q21.1. J Med Genet. 2002;39:714-7 pubmed..Continuing studies will hopefully lead to the identification of the disease causing gene. ..
- Richard P, Gaudon K, Andreux F, Yasaki E, Prioleau C, Bauche S, et al. Possible founder effect of rapsyn N88K mutation and identification of novel rapsyn mutations in congenital myasthenic syndromes. J Med Genet. 2003;40:e81 pubmed
- Melki R, Belmouden A, Brezin A, Garchon H. Myocilin analysis by DHPLC in French POAG patients: increased prevalence of Q368X mutation. Hum Mutat. 2003;22:179 pubmed..Based on these observations, a screening strategy of MYOC mutations in French POAG patients is briefly outlined. ..
- Menasche G, Ho C, Sanal O, Feldmann J, Tezcan I, Ersoy F, et al. Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1). J Clin Invest. 2003;112:450-6 pubmed..This spectrum of GS conditions pinpoints the distinct molecular pathways used by melanocytes, neurons, and immune cells in secretory granule exocytosis, which in part remain to be unraveled. ..
- Barbacci E, Chalkiadaki A, Masdeu C, Haumaitre C, Lokmane L, Loirat C, et al. HNF1beta/TCF2 mutations impair transactivation potential through altered co-regulator recruitment. Hum Mol Genet. 2004;13:3139-49 pubmed..Our findings suggest that the complex syndrome associated with HNF1beta-MODY5 mutations arise from either defective DNA-binding or transactivation function through impaired coactivator recruitment. ..
- Orth G. Genetics of epidermodysplasia verruciformis: Insights into host defense against papillomaviruses. Semin Immunol. 2006;18:362-74 pubmed..Our hypothesis is that EVER proteins act as restriction factors for EV-specific HPVs in keratinocytes, and that EV represents a primary deficiency of intrinsic immunity against certain papillomaviruses...
- Dode C, Teixeira L, Levilliers J, Fouveaut C, Bouchard P, Kottler M, et al. Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2. PLoS Genet. 2006;2:e175 pubmed..They also shed new light on the complex genetic transmission of Kallmann syndrome. ..
- Lesage S, Magali P, Lohmann E, Lacomblez L, Teive H, Janin S, et al. Deletion of the parkin and PACRG gene promoter in early-onset parkinsonism. Hum Mutat. 2007;28:27-32 pubmed..1-?_7+?del mutation. The phenotypes of patients with promoter deletions and consequently absence of parkin and possibly PACRG expression, were similar to and no more severe than those of other EOPD patients with parkin mutations. ..
- Bustamante J, Picard C, Fieschi C, Filipe Santos O, Feinberg J, Perronne C, et al. A novel X-linked recessive form of Mendelian susceptibility to mycobaterial disease. J Med Genet. 2007;44:e65 pubmed..4-Xp21.2 and Xq25-Xq26.3, with a maximum LOD score of 2. A new X-linked recessive form of MSMD is reported, paving the way for the identification of a new MSMD-causing gene. ..
- Gitiaux C, Ceballos Picot I, Marie S, Valayannopoulos V, Rio M, Verrieres S, et al. Misleading behavioural phenotype with adenylosuccinate lyase deficiency. Eur J Hum Genet. 2009;17:133-6 pubmed publisher..On the basis of this observation, although adenylosuccinate lyase deficiency is a rare disorder, this diagnosis should be considered in patients with mental retardation and a behavioural profile suggestive of Angelman syndrome. ..
- Dagoneau N, Goulet M, Genevieve D, Sznajer Y, Martinovic J, Smithson S, et al. DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III. Am J Hum Genet. 2009;84:706-11 pubmed publisher..From this study, we conclude that ATD and SRP type III are variants of a single disorder belonging to the ciliopathy group...
- Gueneau L, Bertrand A, Jais J, Salih M, Stojkovic T, Wehnert M, et al. Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy. Am J Hum Genet. 2009;85:338-53 pubmed publisher..In conclusion, FHL1 should be considered as a gene associated with the X-linked EDMD phenotype, as well as with hypertrophic cardiomyopathy. ..
- Molinari F, Kaminska A, Fiermonte G, Boddaert N, Raas Rothschild A, Plouin P, et al. Mutations in the mitochondrial glutamate carrier SLC25A22 in neonatal epileptic encephalopathy with suppression bursts. Clin Genet. 2009;76:188-94 pubmed publisher..Comparison of the clinical features of patients from both families suggests that SLC25A22 mutations are responsible for a novel clinically recognizable epileptic encephalopathy with SB. ..
- Pantel J, Legendre M, Nivot S, Morisset S, Vie Luton M, Le Bouc Y, et al. Recessive isolated growth hormone deficiency and mutations in the ghrelin receptor. J Clin Endocrinol Metab. 2009;94:4334-41 pubmed publisher..A204E mutation. ..
- Rio M, Malan V, Boissel S, Toutain A, Royer G, Gobin S, 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;18:285-90 pubmed publisher..This family broadens the phenotypic spectrum of FMR1 anomalies in an unexpected manner, and we suggest that this condition may represent the fragile X syndrome "contre-type". ..
- Philippe O, Rio M, Carioux A, Plaza J, Guigue P, Molinari F, 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;85:903-8 pubmed publisher..Moreover, TNF-alpha stimulation assays showed a defect in IkBalpha degradation, suggesting impaired NF-kappaB signaling in patient cells. This study provides evidence of an NF-kappaB signaling defect in isolated MR. ..
- Thomas S, Encha Razavi F, Devisme L, Etchevers H, Bessieres Grattagliano B, Goudefroye G, et al. High-throughput sequencing of a 4.1?Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy. Hum Mutat. 2010;31:1134-41 pubmed publisher..This is the first lethal disease-causing gene to be identified by comprehensive HTS of an entire linkage interval...
- Guerreiro R, Kara E, Le Ber I, Bras J, Rohrer J, Taipa R, et al. Genetic analysis of inherited leukodystrophies: genotype-phenotype correlations in the CSF1R gene. JAMA Neurol. 2013;70:875-882 pubmed publisher..These results give an indication of the frequency of CSF1R mutations in a European leukodystrophy series and expand the phenotypic spectrum of disorders that should be screened for this gene. ..
- Scheid I, Maruani A, Huguet G, Leblond C, Nygren G, Anckarsater H, et al. Heterozygous FA2H mutations in autism spectrum disorders. BMC Med Genet. 2013;14:124 pubmed publisher..While our results do not support a major role for FA2H coding variants in ASD, a screening of other genes related to myelin synthesis would allow us to better understand the role of non-neuronal elements in ASD susceptibility. ..
- Feldmann D, Rozet J, Pelet A, Hentzen D, Briand P, Hubert P, et al. Site specific screening for point mutations in ornithine transcarbamylase deficiency. J Med Genet. 1992;29:471-5 pubmed
- Bienvenu T, Des Portes V, Saint Martin A, McDonell N, Billuart P, Carrie A, et al. Non-specific X-linked semidominant mental retardation by mutations in a Rab GDP-dissociation inhibitor. Hum Mol Genet. 1998;7:1311-5 pubmed..5-1%, and molecular diagnosis and genetic counselling in some cases of non-specific mental handicap can now be provided. ..
- Adaimy L, Chouery E, Megarbane H, Mroueh S, Delague V, Nicolas E, et al. Mutation in WNT10A is associated with an autosomal recessive ectodermal dysplasia: the odonto-onycho-dermal dysplasia. Am J Hum Genet. 2007;81:821-8 pubmed
- Bonne G, Carrier L, Bercovici J, Cruaud C, Richard P, Hainque B, et al. Cardiac myosin binding protein-C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathy. Nat Genet. 1995;11:438-40 pubmed..Mutations in the cardiac MyBP-C gene likely cause chromosome 11-linked hypertrophic cardiomyopathy, further supporting the hypothesis that hypertrophic cardiomyopathy results from mutations in genes encoding contractile proteins. ..
- Sebillon P, Bouchier C, Bidot L, Bonne G, Ahamed K, Charron P, et al. Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations. J Med Genet. 2003;40:560-7 pubmed..Conversely, mutations in LMNA appear as a rare cause of isolated dilated cardiomyopathy. The variable phenotypes observed in LMNA-DCM might be explained by the variability of functional consequences of LMNA mutations. ..
- Tredano M, Griese M, Brasch F, Schumacher S, de Blic J, Marque S, et al. Mutation of SFTPC in infantile pulmonary alveolar proteinosis with or without fibrosing lung disease. Am J Med Genet A. 2004;126A:18-26 pubmed..This article contains supplementary material, which may be viewed at the American Journal of Medical Genetics website at http://www.interscience.wiley.com/jpages/0148-7299/suppmat/index.html. ..
- Allali S, Le Goff C, Pressac Diebold I, Pfennig G, Mahaut C, Dagoneau N, et al. Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia. J Med Genet. 2011;48:417-21 pubmed publisher..It is concluded that GD is a genetically heterogeneous condition. Ongoing studies will hopefully lead to the identification of another disease gene. ..
- Perrault I, Saunier S, Hanein S, Filhol E, Bizet A, Collins F, et al. Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations. Am J Hum Genet. 2012;90:864-70 pubmed publisher..Ciliary abundance and localization of anterograde IFTs were altered in fibroblasts of affected individuals, a result that supports the pivotal role of IFT140 in proper development and function of ciliated cells. ..
- Oustric V, Manceau H, Ducamp S, Soaid R, Karim Z, Schmitt C, et al. Antisense oligonucleotide-based therapy in human erythropoietic protoporphyria. Am J Hum Genet. 2014;94:611-7 pubmed publisher..Thus, EPP is a paradigmatic Mendelian disease in which the in vivo correction of a common single splicing defect would improve the condition of most affected individuals. ..
- Benichou O, Cleiren E, Gram J, Bollerslev J, De Vernejoul M, Van Hul W. Mapping of autosomal dominant osteopetrosis type II (Albers-Schönberg disease) to chromosome 16p13.3. Am J Hum Genet. 2001;69:647-54 pubmed..3. This thus reopens the possibility that ADO type II is genetically homogeneous because of a single gene on chromosome 16p13.3. ..
- Picard C, Fieschi C, Altare F, Al Jumaah S, Al Hajjar S, Feinberg J, et al. Inherited interleukin-12 deficiency: IL12B genotype and clinical phenotype of 13 patients from six kindreds. Am J Hum Genet. 2002;70:336-48 pubmed..To date, two founder IL12B mutations have been identified, accounting for the recurrence of a large deletion and a small insertion within populations from the Indian subcontinent and from the Arabian Peninsula, respectively. ..
- Senée V, Vattem K, Delepine M, Rainbow L, Haton C, Lecoq A, et al. Wolcott-Rallison Syndrome: clinical, genetic, and functional study of EIF2AK3 mutations and suggestion of genetic heterogeneity. Diabetes. 2004;53:1876-83 pubmed
- Audo I, Bujakowska K, Mohand Said S, Tronche S, Lancelot M, Antonio A, et al. A novel DFNB31 mutation associated with Usher type 2 syndrome showing variable degrees of auditory loss in a consanguineous Portuguese family. Mol Vis. 2011;17:1598-606 pubmed..This is the second report of DFNB31 implication in Usher type 2. ..
- Camuzat A, Rozet J, Dollfus H, Gerber S, Perrault I, Weissenbach J, et al. Evidence of genetic heterogeneity of Leber's congenital amaurosis (LCA) and mapping of LCA1 to chromosome 17p13. Hum Genet. 1996;97:798-801 pubmed..20 in InL; heterogeneity versus homogeneity, P = 0.0002, heterogeneity versus no linkage, P < 0.0001) ..
- Bienvenu T, Poirier K, Friocourt G, Bahi N, Beaumont D, Fauchereau F, et al. ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation. Hum Mol Genet. 2002;11:981-91 pubmed..The absence of detectable brain malformations in patients suggests that ARX may have an essential role, in mature neurons, required for the development of cognitive abilities. ..
- Hubeau M, Ngadjeua F, Puel A, Israel L, Feinberg J, Chrabieh M, et al. New mechanism of X-linked anhidrotic ectodermal dysplasia with immunodeficiency: impairment of ubiquitin binding despite normal folding of NEMO protein. Blood. 2011;118:926-35 pubmed publisher..They also demonstrate that the normal expression and folding of NEMO do not exclude a pathogenic role for NEMO mutations in patients with EDA-ID. ..
- Danchin Burge C, Hiemstra S, Blackburn H. Ex situ conservation of Holstein-Friesian cattle: comparing the Dutch, French, and US germplasm collections. J Dairy Sci. 2011;94:4100-8 pubmed publisher..Gene banks can play an important role in conserving genetic diversity within livestock breeds over time, and may support industry in the future when needed. ..
- de Saint Basile G, Lagelouse R, Lambert N, Schwarz K, Le Mareck B, Odent S, et al. Isolated X-linked thrombocytopenia in two unrelated families is associated with point mutations in the Wiskott-Aldrich syndrome protein gene. J Pediatr. 1996;129:56-62 pubmed..This study shows that XLT may be caused by mutations of the WASP, thus representing an allelic variant of WAS. ..
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- Dode C, Andre M, Bienvenu T, Hausfater P, Pecheux C, Bienvenu J, et al. The enlarging clinical, genetic, and population spectrum of tumor necrosis factor receptor-associated periodic syndrome. Arthritis Rheum. 2002;46:2181-8 pubmed..Because an accurate diagnosis in patients with recurrent inflammatory syndromes is crucial for proper clinical management and treatment, genetic screening for TNFRSF1A is warranted. ..
- Vieira V, David G, Roche O, de la Houssaye G, Boutboul S, Arbogast L, et al. Identification of four new PITX2 gene mutations in patients with Axenfeld-Rieger syndrome. Mol Vis. 2006;12:1448-60 pubmed..Further structural and biochemical studies are needed for understanding the wide spectrum of clinical phenotypes caused by the increasing number of new PITX2 mutations found in ARS affected patients. ..
- Sebban Benin H, Pescatore A, Fusco F, Pascuale V, Gautheron J, Yamaoka S, et al. Identification of TRAF6-dependent NEMO polyubiquitination sites through analysis of a new NEMO mutation causing incontinentia pigmenti. Hum Mol Genet. 2007;16:2805-15 pubmed..These findings indicate that post-translational modification of NEMO through K63-linked polyubiquitination is a key event in IKK activation and that perturbation of this step may cause human pathophysiology. ..
- Marduel M, Ouguerram K, Serre V, Bonnefont Rousselot D, Marques Pinheiro A, Erik Berge K, et al. Description of a large family with autosomal dominant hypercholesterolemia associated with the APOE p.Leu167del mutation. Hum Mutat. 2013;34:83-7 pubmed publisher..Our results show that mutations in the APOE gene can be associated with bona fide ADH. ..
- Herve D, Philippi A, Belbouab R, Zerah M, Chabrier S, Collardeau Frachon S, et al. Loss of ?1?1 soluble guanylate cyclase, the major nitric oxide receptor, leads to moyamoya and achalasia. Am J Hum Genet. 2014;94:385-94 pubmed publisher..These data provide treatment options for affected individuals and strongly suggest that investigation of GUCY1A3 and other members of the NO-sGC-cGMP pathway is warranted in both isolated early-onset achalasia and nonsyndromic moyamoya. ..
- Hentzen D, Pelet A, Feldman D, Rabier D, Berthelot J, Munnich A. Fatal hyperammonemia resulting from a C-to-T mutation at a MspI site of the ornithine transcarbamylase gene. Hum Genet. 1991;88:153-6 pubmed..8-kb abnormal fragment should be investigated on Southern blots of affected individuals. ..