Experts and Doctors on dna mutational analysis in Paris, Île de France, France


Locale: Paris, Île de France, France
Topic: dna mutational analysis

Top Publications

  1. Keller D, Acharfi S, Delacretaz E, Benammar N, Rotter M, Pfammatter J, et al. A novel mutation in SCN5A, delQKP 1507-1509, causing long QT syndrome: role of Q1507 residue in sodium channel inactivation. J Mol Cell Cardiol. 2003;35:1513-21 pubmed
    ..DelQKP shares the deletion of Q1507 with the formerly known delKPQ 1505-1507. Our data suggest that Q1507 plays an important role in fast sodium channel inactivation. ..
  2. Azzedine H, Ravise N, Verny C, Gabreels Festen A, Lammens M, Grid D, et al. Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations. Neurology. 2006;67:602-6 pubmed
    ..In the presence of scoliosis, a neurologic examination is recommended. Giant axons on biopsies are also suggestive of CMT4C. For genetic analysis, the R954X mutation should be looked for before systematic sequencing of exon 11. ..
  3. Chapgier A, Boisson Dupuis S, Jouanguy E, Vogt G, Feinberg J, Prochnicka Chalufour A, et al. Novel STAT1 alleles in otherwise healthy patients with mycobacterial disease. PLoS Genet. 2006;2:e131 pubmed
    ..These STAT1 alleles define two forms of dominant STAT1 deficiency, depending on whether the mutations impair STAT1 phosphorylation or DNA binding. ..
  4. Delgado S, Ishiyama M, Sire J. Validation of amelogenesis imperfecta inferred from amelogenin evolution. J Dent Res. 2007;86:326-30 pubmed publisher
    ..This evolutionary analysis also revealed numerous residues that appeared to be important for correct AMEL function, but their role remains to be elucidated...
  5. Laforet P, Acquaviva Bourdain C, Rigal O, Brivet M, Penisson Besnier I, Chabrol B, et al. Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiency. Neuromuscul Disord. 2009;19:324-9 pubmed publisher
    ..Measurement of fasting blood acylcarnitines by tandem mass spectrometry allows accurate biochemical diagnosis and should therefore be performed in all patients presenting with unexplained muscle exercise intolerance or rhabdomyolysis. ..
  6. Benard L, Philippe C, Dondon L, Grunberg Manago M, Ehresmann B, Ehresmann C, et al. Mutational analysis of the pseudoknot structure of the S15 translational operator from Escherichia coli. Mol Microbiol. 1994;14:31-40 pubmed
    ..It is deduced that a specific pseudoknot conformation is a key element for autoregulation. ..
  7. Des Portes V, Francis F, Pinard J, Desguerre I, Moutard M, Snoeck I, et al. doublecortin is the major gene causing X-linked subcortical laminar heterotopia (SCLH). Hum Mol Genet. 1998;7:1063-70 pubmed
    ..The absence of phenotype-genotype correlations suggests that X-inactivation patterns of neuronal precursor cells are likely to contribute to the variable clinical severity of this disorder in females. ..
  8. 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. ..
  9. Laurent C, Niehaus D, Bauché S, Levinson D, Soubigou S, Pimstone S, et al. CAG repeat polymorphisms in KCNN3 (HSKCa3) and PPP2R2B show no association or linkage to schizophrenia. Am J Med Genet B Neuropsychiatr Genet. 2003;116B:45-50 pubmed
    ..In conclusion, no significant evidence for linkage or association with SZ was observed for either polymorphism in this population. ..

More Information

Publications326 found, 100 shown here

  1. Everhard S, Kaloshi G, Criniere E, Benouaich Amiel A, Lejeune J, Marie Y, et al. MGMT methylation: a marker of response to temozolomide in low-grade gliomas. Ann Neurol. 2006;60:740-3 pubmed
    ..0001). Assessment of MGMTP status could help identifying low-grade gliomas patients more likely to respond to chemotherapy or to benefit from MGMT depletion strategies. ..
  2. Olivot J, Labreuche J, de Broucker T, Poirier O, Cambien F, Aiach M, et al. Thrombomodulin gene polymorphisms in brain infarction and mortality after stroke. J Neurol. 2008;255:514-9 pubmed publisher
    ..64). Our results suggest that these three thrombomodulin gene polymorphisms do not contribute to sTM level variations and are not associated with risk of brain infarction and mortality after stroke. ..
  3. Azukaitis K, Simkova E, Majid M, Galiano M, Benz K, Amann K, et al. The Phenotypic Spectrum of Nephropathies Associated with Mutations in Diacylglycerol Kinase ε. J Am Soc Nephrol. 2017;28:3066-3075 pubmed publisher
    ..Furthermore, the benefits of anti-complement therapy are questionable but renal transplant may be a feasible option in the treatment of patients with this condition. ..
  4. Stoppa Lyonnet D, Soulier J, Lauge A, Dastot H, Garand R, Sigaux F, et al. Inactivation of the ATM gene in T-cell prolymphocytic leukemias. Blood. 1998;91:3920-6 pubmed
    ..ATM is thus a tumor suppressor gene whose inactivation is a key event in the development of T-cell prolymphocytic leukemias. ..
  5. Chevessier F, Faraut B, Ravel Chapuis A, Richard P, Gaudon K, Bauché S, et al. MUSK, a new target for mutations causing congenital myasthenic syndrome. Hum Mol Genet. 2004;13:3229-40 pubmed
    ..These results strongly suggest that the missense mutation, in the presence of a null mutation on the other allele, is responsible for the dramatic synaptic changes observed in the patient...
  6. Idbaih A, Aimard J, Boisselier B, Marie Y, Paris S, Criniere E, et al. Epidermal growth factor receptor extracellular domain mutations in primary glioblastoma. Neuropathol Appl Neurobiol. 2009;35:208-13 pubmed publisher
  7. Laforet P, Doppler V, Caillaud C, Laloui K, Claeys K, Richard P, et al. Rigid spine syndrome revealing late-onset Pompe disease. Neuromuscul Disord. 2010;20:128-30 pubmed publisher
  8. Giraud C, Dussau J, Azouguene E, Feillet F, Puech J, Caillaud C. Rapid identification of HEXA mutations in Tay-Sachs patients. Biochem Biophys Res Commun. 2010;392:599-602 pubmed publisher
    ..The time-saving procedure reported here could be useful for the characterization of Tay-Sachs-causing mutations, in particular in non-Ashkenazi patients mainly exhibiting rare mutations. ..
  9. Fourati S, Malet I, Lambert S, Soulie C, Wirden M, Flandre P, et al. E138K and M184I mutations in HIV-1 reverse transcriptase coemerge as a result of APOBEC3 editing in the absence of drug exposure. AIDS. 2012;26:1619-24 pubmed publisher
    ..Thus, incomplete neutralization of one or more APOBEC3 proteins may favor viral escape to rilpivirine-emtricitabine. ..
  10. Le Goff C, Mahaut C, Bottani A, Doray B, Goldenberg A, Moncla A, et al. Not all floating-harbor syndrome cases are due to mutations in exon 34 of SRCAP. Hum Mutat. 2013;34:88-92 pubmed publisher
    ..However, the absence of SRCAP mutations in 3/9 cases supported genetic heterogeneity of FH syndrome. Importantly, no major clinical differences were observed supporting clinical homogeneity in this series of FHS patients. ..
  11. Chapon C, Legrain P. A novel gene, spp91-1, suppresses the splicing defect and the pre-mRNA nuclear export in the prp9-1 mutant. EMBO J. 1992;11:3279-88 pubmed
    ..We suggest that spp91-1 increases pre-mRNA retention in the nucleus by improving the formation of the spliceosome and thereby allowing a larger proportion of the pre-mRNA molecules to be spliced. ..
  12. Zwaenepoel I, Verpy E, Blanchard S, Meins M, Apfelstedt Sylla E, Gal A, et al. Identification of three novel mutations in the USH1C gene and detection of thirty-one polymorphisms used for haplotype analysis. Hum Mutat. 2001;17:34-41 pubmed
    ..A different common haplotype was found in the two IVS1+1G>T carriers. Future studies of additional carriers and non-carriers should document the here proposed founder effect of these two mutations. ..
  13. Holzelova E, Vonarbourg C, Stolzenberg M, Arkwright P, Selz F, Prieur A, et al. Autoimmune lymphoproliferative syndrome with somatic Fas mutations. N Engl J Med. 2004;351:1409-18 pubmed
    ..Somatic heterozygous mutations of Fas can cause a sporadic form of ALPS by allowing lymphoid precursors to resist the normal process of cell death. ..
  14. Albuisson J, Pêcheux C, Carel J, Lacombe D, LeHeup B, Lapuzina P, et al. Kallmann syndrome: 14 novel mutations in KAL1 and FGFR1 (KAL2). Hum Mutat. 2005;25:98-9 pubmed
    ..2190C>G (p.Y730X), all of which were novel mutations. In this study, unilateral renal agenesis and bimanual synkinesia were exclusively found associated with KAL1mutations, cleft palate and dental agenesia with FGFR1mutations...
  15. Dehainault C, Michaux D, Pages Berhouet S, Caux Moncoutier V, Doz F, Desjardins L, et al. A deep intronic mutation in the RB1 gene leads to intronic sequence exonisation. Eur J Hum Genet. 2007;15:473-7 pubmed
    ..This is the first report of a deep intronic mutation in RB1 and is a proof of concept that some undetected RB1 mutations should be investigated at the cDNA level, particularly in hereditary forms of retinoblastoma. ..
  16. Gaujoux S, Tissier F, Groussin L, Libe R, Ragazzon B, Launay P, et al. Wnt/beta-catenin and 3',5'-cyclic adenosine 5'-monophosphate/protein kinase A signaling pathways alterations and somatic beta-catenin gene mutations in the progression of adrenocortical tumors. J Clin Endocrinol Metab. 2008;93:4135-40 pubmed publisher
    ..This underlines the importance of the Wnt/beta-catenin pathway in adrenal cortex tumorigenesis and the importance of genetic accumulation in the progression of ACTs. ..
  17. Warcoin M, Lespinasse J, Despouy G, Dubois d Enghien C, Lauge A, Portnoi M, et al. Fertility defects revealing germline biallelic nonsense NBN mutations. Hum Mutat. 2009;30:424-30 pubmed publisher
    ..NBN mutations should thus be considered a new cause of infertility, and should be searched for if associated with the biological abnormalities of NBS. ..
  18. Dasgupta A, Sureka K, Mitra D, Saha B, Sanyal S, Das A, et al. An oligopeptide transporter of Mycobacterium tuberculosis regulates cytokine release and apoptosis of infected macrophages. PLoS ONE. 2010;5:e12225 pubmed publisher
    ..Taken together, these studies uncover the novel observations that this peptide transporter modulates the innate immune response of macrophages infected with M. tuberculosis...
  19. Galmiche L, Serre V, Beinat M, Assouline Z, Lebre A, Chretien D, et al. Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy. Hum Mutat. 2011;32:1225-31 pubmed publisher
    ..This observation gives support to the view that exome sequencing combined with genetic mapping is a powerful approach for the identification of new genes of mitochondrial disorders. ..
  20. Bonne G, Mercuri E, Muchir A, Urtizberea A, Becane H, Recan D, et al. Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene. Ann Neurol. 2000;48:170-80 pubmed
  21. Stum M, Davoine C, Vicart S, Guillot Noël L, Topaloglu H, Carod Artal F, et al. Spectrum of HSPG2 (Perlecan) mutations in patients with Schwartz-Jampel syndrome. Hum Mutat. 2006;27:1082-91 pubmed
    ..Our analyses strengthen the idea that SJS results from hypomorphic mutations of the HSPG2 gene. They also propose tools for its molecular diagnosis and provide new clues for the understanding of its pathophysiology. ..
  22. Tory K, Lacoste T, Burglen L, Moriniere V, Boddaert N, Macher M, 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;18:1566-75 pubmed
    ..Epistatic effects that are provided by heterozygous NPHP6 and AHI1 mutations and variants may contribute to the appearance of extrarenal symptoms in patients with NPHP1 mutations. ..
  23. Michot C, Hubert L, Brivet M, De Meirleir L, Valayannopoulos V, Müller Felber W, et al. LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood. Hum Mutat. 2010;31:E1564-73 pubmed publisher
    ..The high frequency of the intragenic LPIN1 deletion should provide a valuable criterion for fast diagnosis, prior to muscle biopsy. ..
  24. Peignon G, Durand A, Cacheux W, Ayrault O, Terris B, Laurent Puig P, et al. Complex interplay between ?-catenin signalling and Notch effectors in intestinal tumorigenesis. Gut. 2011;60:166-76 pubmed publisher
    ..This finding calls into question the use of ?-secretase inhibitors for the treatment of CRC and suggests that the restoration of Atoh1 expression in CRC should be considered as a therapeutic approach. ..
  25. Akman H, Aykit Y, Amuk O, Malfatti E, Romero N, Maioli M, et al. Late-onset polyglucosan body myopathy in five patients with a homozygous mutation in GYG1. Neuromuscul Disord. 2016;26:16-20 pubmed publisher
    ..We found a single homozygous intronic mutation harbored by five patients, who, except for two siblings, appear to be unrelated but all five live in central or south Sardinian villages. ..
  26. Vargas Poussou R, Huang C, Hulin P, Houillier P, Jeunemaitre X, Paillard M, et al. Functional characterization of a calcium-sensing receptor mutation in severe autosomal dominant hypocalcemia with a Bartter-like syndrome. J Am Soc Nephrol. 2002;13:2259-66 pubmed
  27. 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. ..
  28. Jiang Y, Rigolet M, Bourc his D, Nigon F, Bokesoy I, Fryns J, et al. DNMT3B mutations and DNA methylation defect define two types of ICF syndrome. Hum Mutat. 2005;25:56-63 pubmed
    ..This classification illustrates the specificity of the methylation process and raises questions about the genetic heterogeneity of the ICF syndrome. ..
  29. Goizet C, Boukhris A, Mundwiller E, Tallaksen C, Forlani S, Toutain A, et al. Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10. Hum Mutat. 2009;30:E376-85 pubmed publisher
    ..SPG10 mutations were found in 10% of our complicated forms of HSP, suggesting that mutations in KIF5A represent the major cause of complicated AD-HSP in France. ..
  30. Benajiba L, Le Ber I, Camuzat A, Lacoste M, Thomas Anterion C, Couratier P, et al. TARDBP mutations in motoneuron disease with frontotemporal lobar degeneration. Ann Neurol. 2009;65:470-3 pubmed publisher
    ..We now describe TARDBP mutations in two patients with FTLD-MND, presenting with a behavioral variant of FTLD and semantic dementia, suggesting that TDP-43 may also have a direct pathogenic role in FTLD disorders. ..
  31. Benyamina A, Bonhomme Faivre L, Picard V, Sabbagh A, Richard D, Blecha L, et al. Association between ABCB1 C3435T polymorphism and increased risk of cannabis dependence. Prog Neuropsychopharmacol Biol Psychiatry. 2009;33:1270-4 pubmed publisher
    ..ABCB1 polymorphisms may alter Delta9THC distribution, its psychoactive effects and individual vulnerability to dependence. These results pave the way to a new pharmacogenetic hypothesis in cannabis dependence. ..
  32. Dupre T, Vuillaumier Barrot S, Chantret I, Sadou Yaye H, Yayé H, Le Bizec C, et al. Guanosine diphosphate-mannose:GlcNAc2-PP-dolichol mannosyltransferase deficiency (congenital disorders of glycosylation type Ik): five new patients and seven novel mutations. J Med Genet. 2010;47:729-35 pubmed publisher
  33. Audo I, Mohand Said S, Dhaenens C, Germain A, Orhan E, Antonio A, et al. RP1 and autosomal dominant rod-cone dystrophy: novel mutations, a review of published variants, and genotype-phenotype correlation. Hum Mutat. 2012;33:73-80 pubmed publisher
    ..Variable penetrance of the disease was observed in our and other cohorts. Most patients with RP1 mutations show classical signs of RP with relatively preserved central vision and visual field. ..
  34. Zanoni P, Khetarpal S, Larach D, Hancock Cerutti W, Millar J, Cuchel M, et al. Rare variant in scavenger receptor BI raises HDL cholesterol and increases risk of coronary heart disease. Science. 2016;351:1166-71 pubmed publisher
    ..P376L carriers have a profound HDL-related phenotype and an increased risk of CHD (odds ratio = 1.79, which is statistically significant). ..
  35. Dorboz I, Aiello C, Simons C, Stone R, Niceta M, Elmaleh M, et al. Biallelic mutations in the homeodomain of NKX6-2 underlie a severe hypomyelinating leukodystrophy. Brain. 2017;140:2550-2556 pubmed publisher
    ..All exhibited neuroimaging that was consistent with hypomyelination. These findings define a novel, severe form of leukodystrophy caused by impaired NKX6-2 function...
  36. Legoix P, Bluteau O, Bayer J, Perret C, Balabaud C, Belghiti J, et al. Beta-catenin mutations in hepatocellular carcinoma correlate with a low rate of loss of heterozygosity. Oncogene. 1999;18:4044-6 pubmed
    ..The first mechanism implies a beta catenin activating mutation associated with a low rate of loss of heterozygosity. The second mechanism, operating in a context of chromosomal instability, would involve tumor suppressor genes. ..
  37. Pequignot M, Dey R, Zeviani M, Tiranti V, Godinot C, Poyau A, et al. Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome C oxidase deficiency. Hum Mutat. 2001;17:374-81 pubmed
    ..The most frequent mutation was 312_321del 311_312insAT which was found in 12 patients out of 40. Twenty mutations have been described only once. We also list all polymorphisms discovered to date. ..
  38. Clappier E, Cuccuini W, Cayuela J, Vecchione D, Baruchel A, Dombret H, et al. Cyclin D2 dysregulation by chromosomal translocations to TCR loci in T-cell acute lymphoblastic leukemias. Leukemia. 2006;20:82-6 pubmed
    ..This report is the first clear evidence of a direct involvement of cyclin D2 in human cancer due to recurrent somatic genetic alterations. ..
  39. Rieux Laucat F, Hivroz C, Lim A, Mateo V, Pellier I, Selz F, et al. Inherited and somatic CD3zeta mutations in a patient with T-cell deficiency. N Engl J Med. 2006;354:1913-21 pubmed
  40. Dode C, Fouveaut C, Mortier G, Janssens S, Bertherat J, Mahoudeau J, et al. Novel FGFR1 sequence variants in Kallmann syndrome, and genetic evidence that the FGFR1c isoform is required in olfactory bulb and palate morphogenesis. Hum Mutat. 2007;28:97-8 pubmed
    ..Moreover, the presence of cleft palate in a patient carrying the p.E324X change shows that FGFR1c is important for palate morphogenesis too...
  41. 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. ..
  42. Yanagisawa A, Bouchet C, Van den Bergh P, Cuisset J, Viollet L, Leturcq F, et al. New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutation. Neurology. 2007;69:1254-60 pubmed
    ..Tyr666Cys. Our results broaden the clinical spectrum associated with POMT2 mutations, which should be considered in patients with CMD associated with microcephaly, and severe mental retardation with or without ocular involvement. ..
  43. Trabelsi M, Kavian N, Daoud F, Commere V, Deburgrave N, Beugnet C, et al. Revised spectrum of mutations in sarcoglycanopathies. Eur J Hum Genet. 2008;16:793-803 pubmed publisher
  44. Taillibert S, Vincent L, Granger B, Marie Y, Carpentier C, Guillevin R, et al. Bevacizumab and irinotecan for recurrent oligodendroglial tumors. Neurology. 2009;72:1601-6 pubmed publisher
    ..This regimen is effective in recurrent oligodendrogliomas, and the overall tolerance is acceptable. ..
  45. Sethi S, Marie Agnes D, Thaker N, Hari P, Bagga A. Hemolytic uremic syndrome due to homozygous factor H deficiency. Clin Exp Nephrol. 2009;13:526-530 pubmed publisher
    ..The patient showed progression to end-stage renal disease and is presently on chronic ambulatory peritoneal dialysis. ..
  46. Wislez M, Antoine M, Baudrin L, Poulot V, Neuville A, Pradere M, et al. Non-mucinous and mucinous subtypes of adenocarcinoma with bronchioloalveolar carcinoma features differ by biomarker expression and in the response to gefitinib. Lung Cancer. 2010;68:185-91 pubmed publisher
    ..Additional prospective studies are required to better approach therapeutic strategy in mucinous tumors, which are a distinct entity from non-mucinous tumors. ..
  47. Mazoyer E, Ripoll L, Gueguen R, Tiret L, Collet J, Dit Sollier C, et al. Prevalence of factor V Leiden and prothrombin G20210A mutation in a large French population selected for nonthrombotic history: geographical and age distribution. Blood Coagul Fibrinolysis. 2009;20:503-10 pubmed publisher
    ..These polymorphisms confer a very mild hypercoagulable state as shown by the limited increased in basal D-dimers in mutated FV-G1691A populations and only a trend that does not reach statistical significance for FII-G20210A population. ..
  48. Passemard S, Titomanlio L, Elmaleh M, Afenjar A, Alessandri J, Andria G, et al. Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations. Neurology. 2009;73:962-9 pubmed publisher
    ..Borderline microcephaly at birth, borderline-normal intellectual efficiency, and brain malformations can occur in ASPM-related primary hereditary microcephaly. ..
  49. 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. ..
  50. Lerosey I, Chardin P, de Gunzburg J, Tavitian A. The product of the rap2 gene, member of the ras superfamily. Biochemical characterization and site-directed mutagenesis. J Biol Chem. 1991;266:4315-21 pubmed
    ..These properties of the normal and mutant rap2 proteins are compared with those of ras p21 carrying similar substitutions and are discussed in relation to the structural models proposed for ras p21. ..
  51. Guillouf C, Laquerbe A, Moustacchi E, Papadopoulo D. Mutagenic processing of psoralen monoadducts differ in normal and Fanconi anemia cells. Mutagenesis. 1993;8:355-61 pubmed
    ..Great similarities were found between normal and FA cells with respect to the nature and location of point mutation at the HPRT gene; the high proneness to deletions remains one of the major instability features of FA. ..
  52. Cecchi C, Biasotto M, Tosi M, Avner P. The mottled mouse as a model for human Menkes disease: identification of mutations in the Atp7a gene. Hum Mol Genet. 1997;6:425-33 pubmed
  53. Rogner U, Danoy P, Matsuda F, Moore G, Stanier P, Avner P. SNPs in the CpG island of NAP1L2: a possible link between DNA methylation and neural tube defects?. Am J Med Genet. 2002;110:208-14 pubmed
    ..NAP1L2/Nap1l2 expression may therefore depend on the genetic-environmental factors that are frequently associated with NTDs. ..
  54. Castanet M, Park S, Smith A, Bost M, Leger J, Lyonnet S, et al. A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis and cleft palate. Hum Mol Genet. 2002;11:2051-9 pubmed
    ..Our observations support the role of TTF-2 in both thyroid and palate development but suggest phenotypic heterogeneity of this syndromic form of CH. ..
  55. Rio M, Clech L, Amiel J, Faivre L, Lyonnet S, Le Merrer M, et al. Spectrum of NSD1 mutations in Sotos and Weaver syndromes. J Med Genet. 2003;40:436-40 pubmed
    ..We suggest therefore considering macrocephaly and facial gestalt as mandatory criteria for the diagnosis of Sotos syndrome and overgrowth and advanced bone age as minor criteria. ..
  56. Azzedine H, Ruberg M, Ente D, Gilardeau C, Perie S, Wechsler B, et al. Variability of disease progression in a family with autosomal recessive CMT associated with a S194X and new R310Q mutation in the GDAP1 gene. Neuromuscul Disord. 2003;13:341-6 pubmed
    ..The phenotype included hoarse voice and paralysis of the diaphragm. This study shows the variability of the phenotype associated with mutations in GDAP1 gene in terms of associated signs and severity...
  57. Dragon Durey M, Fremeaux Bacchi V, Loirat C, Blouin J, Niaudet P, Deschenes G, et al. Heterozygous and homozygous factor h deficiencies associated with hemolytic uremic syndrome or membranoproliferative glomerulonephritis: report and genetic analysis of 16 cases. J Am Soc Nephrol. 2004;15:787-95 pubmed
    ..This report emphasizes the variability in the clinical progression of kidney diseases associated with FH deficiencies. Genetic analysis reveals the molecular abnormalities associated with FH deficiencies to be polymorphous...
  58. Ibanez P, Lohmann E, Pollak P, Durif F, Tranchant C, Agid Y, et al. Absence of NR4A2 exon 1 mutations in 108 families with autosomal dominant Parkinson disease. Neurology. 2004;62:2133-4 pubmed
  59. Poirier K, Lacombe D, Gilbert Dussardier B, Raynaud M, Desportes V, de Brouwer A, et al. Screening of ARX in mental retardation families: Consequences for the strategy of molecular diagnosis. Neurogenetics. 2006;7:39-46 pubmed
    ..2%). This study confirms that the frequency of ARX mutations is high in XLMR, and the analysis of ARX in MRX should not be limited to duplication...
  60. Gouya L, Martin Schmitt C, Robreau A, Austerlitz F, Da Silva V, Brun P, et al. Contribution of a common single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria. Am J Hum Genet. 2006;78:2-14 pubmed publisher
  61. Haïk S, Galanaud D, Linguraru M, Peoc h K, Privat N, Faucheux B, et al. In vivo detection of thalamic gliosis: a pathoradiologic demonstration in familial fatal insomnia. Arch Neurol. 2008;65:545-9 pubmed publisher
  62. González Barroso M, Giurgea I, Bouillaud F, Anedda A, Bellanne Chantelot C, Hubert L, et al. Mutations in UCP2 in congenital hyperinsulinism reveal a role for regulation of insulin secretion. PLoS ONE. 2008;3:e3850 pubmed publisher
    ..Our results show for the first time a direct association between UCP2 amino acid alteration and human disease and highlight a role for mitochondria in hormone secretion. ..
  63. Pasmant E, Sabbagh A, Hanna N, Masliah Planchon J, Jolly E, Goussard P, et al. SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype. J Med Genet. 2009;46:425-30 pubmed publisher
    ..NIH diagnostic criteria for NF1 must be revised in view of this newly characterised Legius syndrome in order to establish a specific genetic counselling. ..
  64. Vinci G, Brauner R, Tar A, Rouba H, Sheth J, Sheth F, et al. Mutations in the TSPYL1 gene associated with 46,XY disorder of sex development and male infertility. Fertil Steril. 2009;92:1347-50 pubmed publisher
    ..R89H mutation, and this data supports the hypothesis that mutations in TSPYL1 may contribute to anomalies of testicular development/function...
  65. Jallu V, Dusseaux M, Panzer S, Torchet M, Hezard N, Goudemand J, et al. AlphaIIbbeta3 integrin: new allelic variants in Glanzmann thrombasthenia, effects on ITGA2B and ITGB3 mRNA splicing, expression, and structure-function. Hum Mutat. 2010;31:237-46 pubmed publisher
  66. Wendum D, Barbu V, Rosmorduc O, Arrive L, Flejou J, Poupon R. Aspects of liver pathology in adult patients with MDR3/ABCB4 gene mutations. Virchows Arch. 2012;460:291-8 pubmed publisher
    ..Lipid crystals in bile ducts may be suggestive of MDR3/ABCB4 mutation. MDR3 immunostaining on formalin-fixed paraffin-embedded sections does not seem to be sensitive for the diagnosis of heterozygous MDR3/ABCB4 mutations. ..
  67. Naudion S, Moutton S, Coupry I, Sole G, Deforges J, Guerineau E, et al. Fetal phenotypes in otopalatodigital spectrum disorders. Clin Genet. 2016;89:371-7 pubmed publisher
    ..Discriminating the type of OPDSD is of importance in order to improve the genetic counseling to provide to families. ..
  68. Huber C, Dias Santagata D, Glaser A, O Sullivan J, Brauner R, Wu K, et al. Identification of mutations in CUL7 in 3-M syndrome. Nat Genet. 2005;37:1119-24 pubmed
    ..These results suggest that impaired ubiquitination may have a role in the pathogenesis of intrauterine growth retardation in humans. ..
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    ..These results highlight strategies by which chikungunya virus can overcome polyamine depletion and emphasize continued research on developing improved antiviral therapies. ..
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    ..Our results suggest that TD1 is a genetically homogeneous condition and give additional support to the view that newly created cysteine residues in the extracellular domain of the protein play a key role in the severity of the disease. ..
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    ..This mutation R67C is located in a conserved polybasic domain (AA 66-68) of the protein that is predicted to play a major role in the GTPases binding and stimulation of Pak activity. ..
  78. Dode C, Le Dû N, Cuisset L, Letourneur F, Berthelot J, Vaudour G, et al. New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation underlies both syndromes. Am J Hum Genet. 2002;70:1498-506 pubmed
    ..Identification of this gene (or these genes) is likely to have significant therapeutic implications for these severe diseases. ..
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    ..Furthermore, a number of well defined genetic syndromes which are associated with an inherited risk for pancreatic carcinoma have been identified recently...
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    ..Expressed tagged hMunc13-4 localizes with cytotoxic granules at the immunological synapse. HMunc13-4 is therefore essential for the priming step of cytolytic granules secretion preceding vesicle membrane fusion. ..
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    ..We also evaluate the suitability of automated SSCA and DHPLC for mutation scanning. ..
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    ..We found a heterozygous BBS6 mutation in three additional cases. No BBS1, BBS3, BBS5, BBS7, or BBS8 mutations were identified in our series. These results suggest that the antenatal presentation of BBS may mimic Meckel syndrome. ..
  85. Klebe S, Durr A, Rentschler A, Hahn Barma V, Abele M, Bouslam N, et al. New mutations in protein kinase Cgamma associated with spinocerebellar ataxia type 14. Ann Neurol. 2005;58:720-9 pubmed
    ..SCA14 represented only 1.5% (7/454) of French ADCA families but none of the German families. It should, however, be considered in patients with slowly progressive ADCA, particularly when myoclonus and cognitive impairment are present. ..
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    ..These phenotypes were associated with a novel missense mutation in CIAS1. Anakinra controlled inflammatory flares in the three patients. FCAS, MWS and CINCA could be different phenotype expressions of the same disease. ..
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    ..Genetic causes were heterogeneous. Sporadic polyposis patients must be considered as potential APC mosaicism. The histological classification of polyposis is strongly important in direct genetic exploration. ..
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