Found 47 results
Filters: Author is Béroud, C [Clear All Filters]
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2016. Consideration surrounding incidental findings throughout multigene panel testing in cancer genetics.. Clinical genetics. 89:267–268.
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2013. [Phenotypic heterogeneity and phenotype-genotype correlations in dystrophinopathies: Contribution of genetic and clinical databases].. Revue neurologique. 169:583–594.
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2012. Bioinformatics and mutations leading to exon skipping.. Methods in molecular biology (Clifton, N.J.). 867:17–35.
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2012. The new Ghent criteria for Marfan syndrome: what do they change? Clinical genetics. 81:433–442.
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2011. Polymorphisms of MAMLD1 gene in hypospadias.. Journal of pediatric urology. 7:585–591.
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2010. [Genetic mutation databases: stakes and perspectives for orphan genetic diseases].. Pathologie-biologie. 58:387–395.
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2009. Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation.. European journal of human genetics : EJHG. 17:491–501.
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2009. Pathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: further delineation of type 1 fibrillinopathies and focus on patients with an isolated major criterion.. American journal of medical genetics. Part A. 149A:854–860.
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2008. Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands.. Journal of medical genetics. 45:384–390.
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2007. Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study.. American journal of human genetics. 81:454–466.
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2007. Negative genetic neonatal screening for cystic fibrosis caused by compound heterozygosity for two large CFTR rearrangements.. Clinical genetics. 72:374–377.
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2007. Transcriptional explorations of CAPN3 identify novel splicing mutations, a large-sized genomic deletion and evidence for messenger RNA decay.. Clinical genetics. 72:582–592.
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2003. Prenatal diagnosis of spinal muscular atrophy by genetic analysis of circulating fetal cells.. Lancet. 361:1013–1014.
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2001. Assessing TP53 status in human tumours to evaluate clinical outcome.. Nature reviews. Cancer. 1:233–240.
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2001. Association of GSTT1 non-null and NAT1 slow/rapid genotypes with von Hippel-Lindau tumour suppressor gene transversions in sporadic renal cell carcinoma.. Pharmacogenetics. 11:521–535.
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2001. [Molecular diagnostic techniques in oncogenetics].. Annales de médecine interne. 152:326–331.
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2000. Central nervous system hemangioblastomas, endolymphatic sac tumors, and von Hippel-Lindau disease.. Neurosurgical review. 23:1–22–discussion23–4.
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2000. p53 website and analysis of p53 gene mutations in human cancer: forging a link between epidemiology and carcinogenesis.. Human mutation. 15:105–113.
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2000. [Prevention of renal carcinoma: the nutri-genetic approach].. Journal de la Société de biologie. 194:29–38.
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2000. UMD (Universal mutation database): a generic software to build and analyze locus-specific databases.. Human mutation. 15:86–94.
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1999. Candidate genetic modifiers of individual susceptibility to renal cell carcinoma: a study of polymorphic human xenobiotic-metabolizing enzymes.. Cancer research. 59:2903–2908.
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1999. Mutations of the VHL gene in sporadic renal cell carcinoma: definition of a risk factor for VHL patients to develop an RCC.. Human mutation. 13:464–475.
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1998. APC gene: database of germline and somatic mutations in human tumors and cell lines.. Nucleic acids research. 26:269–270.
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1998. LDLR Database (second edition): new additions to the database and the software, and results of the first molecular analysis.. Nucleic acids research. 26:248–252.
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1998. Marfan Database (third edition): new mutations and new routines for the software.. Nucleic acids research. 26:229–223.
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1998. p53 gene mutation: software and database.. Nucleic acids research. 26:200–204.
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1998. Software and database for the analysis of mutations in the human WT1 gene.. Nucleic acids research. 26:271–274.
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1998. Software and database for the analysis of mutations in the VHL gene.. Nucleic acids research. 26:256–258.
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1998. [Von Hippel-Lindau disease: a hereditary disease that impacts multiple tissues].. Presse médicale (Paris, France : 1983). 27:1112–1120.
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1998. [Von Hippel-Lindau disease and renal cancer: 10 years of genetic progress. GEFVHL (French-Speaking Study Group on von Hippel-Lindau disease)].. Progrès en urologie : journal de l'Association fran{\c c}aise d'urologie et de la Société fran{\c c}aise d'urologie. 8:330–339.
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1998. [Von Hippel-Lindau disease: recent genetic progress and patient management. Francophone Study Group of von Hippel-Lindau Disease (GEFVH)].. Annales d'endocrinologie. 59:452–458.
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1997. Marfan Database (second edition): software and database for the analysis of mutations in the human FBN1 gene.. Nucleic acids research. 25:147–150.
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1997. p53 and APC gene mutations: software and databases.. Nucleic acids research. 25:138.
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1997. Prevention and treatment of renal carcinoma: new genetic strategies.. Advances in nephrology from the Necker Hospital. 26:81–106.
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1997. Software and database for the analysis of mutations in the human LDL receptor gene.. Nucleic acids research. 25:172–180.
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1996. APC gene: database of germline and somatic mutations in human tumors and cell lines.. Nucleic acids research. 24:121–124.
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1996. Correlations of allelic imbalance of chromosome 14 with adverse prognostic parameters in 148 renal cell carcinomas.. Genes, chromosomes {&} cancer. 17:215–224.
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1996. p53 gene mutation: software and database.. Nucleic acids research. 24:147–150.
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1996. Report of the sixth international workshop on human chromosome 3 mapping 1995.. Cytogenetics and cell genetics. 72:255–270.
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1996. Software and database for the analysis of mutations in the human FBN1 gene.. Nucleic acids research. 24:137–140.
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1994. Database and software for the analysis of mutations at the human p53 gene.. Nucleic acids research. 22:3549–3550.
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1994. Database and software for the analysis of mutations in the human p53 gene.. Cancer research. 54:4454–4460.
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1994. Renal cell carcinoma: recent progress.. Advances in nephrology from the Necker Hospital. 23:71–90.
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1993. Isolation of kidney complementary DNAs down-expressed in Wilms' tumor by a subtractive hybridization approach.. Cancer research. 53:2888–2894.
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1992. [Genetic aspects of renal tumors in adults].. Archives d'anatomie et de cytologie pathologiques. 40:301–306.
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1991. [Antioncogenes: models for tumors in children].. Bulletin du cancer. 78:57–68.
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1990. Constitutional and somatic deletions of two different regions of maternal chromosome 11 in Wilms tumor.. Genomics. 7:434–438.
