M. Blayau

发表

Nutritional and genetic determinants of vitamin B and homocysteine metabolisms in neural tube defects: A multicenter case–control study

E. Van Obberghen, D. Luton, J. Oury, 2008, American journal of medical genetics. Part A.

Molecular screening of the TGIF gene in holoprosencephaly: identification of two novel mutations

L. Pasquier, S. Odent, M. Blayau, 2003, Human Genetics.

A new mutation in the six-domain of SIX3 gene causes holoprosencephaly

L. Pasquier, S. Odent, M. Blayau, 2000, European Journal of Human Genetics.

Idiopathic Gastric Acid Hypersecretion in a Patient With MUTYH-Associated Polyposis

C. Dugast, B. Meunier, M. Blayau, 2009, The American Journal of Gastroenterology.

A new mutation of E-cadherin gene in familial gastric linitis plastica cancer with extra-digestive dissemination.

J. Raoul, M. Blayau, J. Campion, 2001, European journal of gastroenterology & hepatology.

Alpha-L-fucosidase in rat testis during sexual maturity.

M. Blayau, V. Shacoori, G. Leray, 1988, Archives of andrology.

Anonymous marker loci within 400 kb of HLA-A generate haplotypes in linkage disequilibrium with the hemochromatosis gene (HFE)

P. Pontarotti, B. Chauvel, A. Kahloun, 1994, American journal of human genetics.

Obstructive azoospermia with agenesis of vas deferens or with bronchiectasia (Young's syndrome): a genetic approach.

D. Le Lannou, M. Blayau, P. Jézéquel, 1995, Human reproduction.

Anonymous markers located on chromosome 6 in the HLA-A class I region: allelic distribution in genetic haemochromatosis

P. Pontarotti, A. Kahloun, J. Yaouanq, 1992, Human Genetics.

Familial screening for genetic haemochromatosis by means of DNA markers.

J. L. Le Gall, P. Pontarotti, J. Yaouanq, 1992, Journal of medical genetics.

Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age

A. Toutain, N. Romero, L. Pasquier, 2013, European Journal of Human Genetics.

Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age

A. Toutain, L. Pasquier, S. Mercier, 2013, European Journal of Human Genetics.

Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age This article has been corrected since online publication and a corrigendum is also printed in this issue

A. Toutain, N. Romero, L. Pasquier, 2013 .

Neonatal screening of cystic fibrosis: diagnostic problems with CFTR mild mutations

C. Férec, M. Audrézet, M. Blayau, 2007, Journal of Inherited Metabolic Disease.

Late ovarian relapse of TEL/AML1 positive ALL confirming that TEL deletion is a secondary event in leukemogenesis.

J. Cayuela, M. Blayau, J. Goasguen, 2005, Leukemia research.

Genomic variations integrated database for MUTYH-associated adenomatous polyposis

C. Béroud, A. Fabre, S. Pinson, 2014, Journal of Medical Genetics.

An improved source of receptor for 1,25-dihydroxyvitamin D3 assay.

M. Blayau, V. David, G. Leray, 1986, Clinica chimica acta; international journal of clinical chemistry.

CFTR mutation combinations producing frequent complex alleles with different clinical and functional outcomes

A. Kitzis, E. Girodon, T. Bienvenu, 2012, Human mutation.

Holoprosencephaly due to mutations in ZIC2: alanine tract expansion mutations may be caused by parental somatic recombination.

D. Wieczorek, M. Muenke, S. A. Brown, 2001, Human molecular genetics.

Cleft lip, cleft palate, hereditary diffuse gastric cancer and germline mutations in CDH1

F. Coulet, O. Caron, D. Malka, 2013, International journal of cancer.

HLA class I gene polymorphism in genetic hemochromatosis

R. Fauchet, J. Yaouanq, M. Blayau, 1990, Human Genetics.

Colorectal Adenomatous Polyposis Associated with MYH Mutations: Genotype and Phenotype Characteristics

D. Bonneau, B. Buecher, L. Siproudhis, 2007, Diseases of the colon and rectum.

CFTR genotypes in patients with normal or borderline sweat chloride levels

C. Clavel, M. Claustres, C. Férec, 2003, Human mutation.

Phenotypic and molecular variability of the holoprosencephalic spectrum

L. Pasquier, S. Odent, M. Blayau, 2004, American journal of medical genetics. Part A.

Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype–phenotype correlations

L. Pasquier, S. Odent, M. Blayau, 2004, Human mutation.

Expression of the Sonic hedgehog (SHH ) gene during early human development and phenotypic expression of new mutations causing holoprosencephaly.

A. Munnich, M. Vekemans, T. Attié-Bitach, 1999, Human molecular genetics.

Impact of public health strategies on the birth prevalence of cystic fibrosis in Brittany, France

C. Férec, M. Audrézet, M. Blayau, 2003, Human Genetics.

Molecular screening of the CFTR gene in men with anomalies of the vas deferens: identification of three novel mutations.

J. L. Le Gall, D. Le Lannou, S. Odent, 2000, Molecular human reproduction.

Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France

C. Clavel, M. Claustres, C. Férec, 2000, Human mutation.

Identification of a novel mutation in CFTR gene exon 8 (L375F) in a CUAVD phenotype

B. Chauvel, M. Blayau, P. Jézéquel, 1996, Human Genetics.

[Biological markers in hepatocellular carcinoma].

J. L. Le Gall, Y. Deugnier, M. Blayau, 1988, Annales de biologie clinique.

Prenatal diagnosis of cystic fibrosis: the 18‐year experience of Brittany (western France)

C. Férec, M. Audrézet, P. Boisseau, 2008, Prenatal diagnosis.

Short-term prednisolone followed by recombinant human alpha-interferon alone or combined with adenine-arabinoside in chronic hepatitis B. A prospective and randomized trial.

C. Jacquelinet, G. Lescoat, P. Brissot, 1991, Journal of hepatology.

CDH1 germline mutations and the hereditary diffuse gastric and lobular breast cancer syndrome: a multicentre study

A. Sézeur, P. Laurent-Puig, C. Tlemsani, 2013, Journal of Medical Genetics.

Genotype–phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD–DMD database: a model of nationwide knowledgebase

Christophe Béroud, Jamel Chelly, Mireille Claustres, 2009, Human mutation.

Cleft lip/palate and CDH1/E-cadherin mutations in families with hereditary diffuse gastric cancer

M Vekemans, M. Lovett, E. Jabs, 2005, Journal of Medical Genetics.

Highlighting the impact of cascade carrier testing in cystic fibrosis families.

E. Génin, C. Férec, M. Audrézet, 2016, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

Nonvisualization of fetal gallbladder increases the risk of cystic fibrosis

A. Kitzis, C. Férec, M. Audrézet, 2012, Prenatal diagnosis.

Structural analysis of CFTR gene in congenital bilateral absence of vas deferens.

P. Fergelot, J. L. Le Gall, B. Chauvel, 1995, Clinical chemistry.

The UMD–APC Database, a Model of Nation‐Wide Knowledge Base: Update with Data from 3,581 Variations

C. Béroud, S. Pinson, S. Olschwang, 2014, Human mutation.

p.Ser1235Arg should no longer be considered as a cystic fibrosis mutation: results from a large collaborative study

M. Claustres, E. Girodon, T. Bienvenu, 2011, European Journal of Human Genetics.

Multiexon skipping leading to an artificial DMD protein lacking amino acids from exons 45 through 55 could rescue up to 63% of patients with Duchenne muscular dystrophy

Christophe Béroud, Olivier Danos, Mireille Claustres, 2007, Human mutation.

Partial purification and characterization of a serine endopeptidase from rat liver plasma membranes.

J. L. Le Gall, M. Blayau, A. Le Treut, 1986, Biochimica et biophysica acta.

Focus on cystic fibrosis and other disorders evidenced in fetuses with sonographic finding of echogenic bowel: 16-year report from Brittany, France.

C. Férec, M. Audrézet, M. Blayau, 2010, American journal of obstetrics and gynecology.

Prenatal detection of cystic fibrosis by ultrasonography: a retrospective study of more than 346 000 pregnancies

C. Férec, J. Andrieux, M. Audrézet, 2002, Journal of medical genetics.

Haemochromatosis and HLA–H

P. Fergelot, J. Mosser, I. Gicquel, 1996, Nature Genetics.

French CF family genotype analysis shows that the R297Q mutation is a rare polymorphism

P. Fergelot, J. L. Le Gall, B. Chauvel, 1995, Human mutation.

[Genetic study of holoprosencephaly].

L. Pasquier, S. Odent, M. Blayau, 2003, Annales de biologie clinique.

Hereditary diffuse gastric cancer syndrome: improved performances of the 2015 testing criteria for the identification of probands with a CDH1 germline mutation

D. Stoppa-Lyonnet, C. Tlemsani, B. Buecher, 2015, Journal of Medical Genetics.

Cystic fibrosis patients with the 3272-26A>G splicing mutation have milder disease than F508del homozygotes: a large European study

X. Estivill, T. Dörk, C. Clavel, 2001, Journal of medical genetics.

Ferritin H gene polymorphism in idiopathic hemochromatosis

M. Simon, L. Abel, J. Yaouanq, 2004, Human Genetics.

Identification of a novel mutation (A268G) in exon 8 of the HTRβ gene in a large family with thyroid hormone resistance

J. L. Le Gall, J. Hespel, M. Blayau, 1996, Human mutation.

Analysis of 160 CF chromosomes: detection of a novel mutation in exon 20

S. Odent, H. Journel, M. Blayau, 1993, Human Genetics.

Cystic fibrosis patients with the 3272-26A>G splicing mutation have milder disease than F508del homozygotes: a large European study

X. Estivill, T. Dörk, C. Clavel, 2001 .

Dinucleotide repeat polymorphism at the FTHPI locus of chromosome 6.

J. L. Le Gall, M. Blayau, V. David, 1991, Nucleic acids research.

Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females

X. Estivill, T. Dörk, C. Clavel, 2001, Journal of Medical Genetics.

Focus on cystic fibrosis and other disorders evidenced in fetuses with sonographic finding of echogenic bowel: 16-year report from Brittany, France.

C. Férec, M. Audrézet, M. Blayau, 2010, American journal of obstetrics and gynecology.

Hereditary diffuse gastric cancer syndrome: improved performances of the 2015 testing criteria for the identification of probands with a CDH1 germline mutation

D. Stoppa-Lyonnet, C. Tlemsani, B. Buecher, 2015, Journal of Medical Genetics.