M. Blayau: search on Z-Library

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1

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

Ayman El-Seedy, Emmanuelle Girodon, Caroline Norez, Julie Pajaud, Marie-Claude Pasquet, Alix de Becdelièvre, Thierry Bienvenu, Marie des Georges, Faïza Cabet, Guy Lalau, Eric Bieth, Martine Blayau, Fr

Journal:

Year:

2012

Language:

english

File:

PDF, 373 KB

english, 2012

2

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

Grandval, Philippe, Blayau, Martine, Buisine, Marie-Pierre, Coulet, Florence, Maugard, Christine, Pinson, Stéphane, Remenieras, Audrey, Tinat, Julie, Uhrhammer, Nancy, Béroud, Christophe, Olschwang, S

Journal:

Year:

2014

Language:

english

File:

PDF, 452 KB

english, 2014

3

Haemochromatosis and HLA–H

Jouanolle, Anne Marie, Gandon, Gwenola, Jézéquel, Pascal, Blayau, Martine, Campion, Marie Laure, Yaouanq, Jacqueline, Mosser, Jean, Fergelot, Patricia, Chauvel, Bruno, Bouric, Pascale, Carn, Gwenaelle

Journal:

Nature Genetics

Year:

1996

File:

PDF, 260 KB

1996

4

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

Pascal Jézéquel, Isabelle Guilhem, Jean Pierre Hespel, André Le Treut, Jean Yves Le Gall, Hubert Allannic, Martine Blayau

Journal:

Year:

1996

Language:

english

File:

PDF, 135 KB

english, 1996

5

Identification of three novel mutations in the dystrophin gene detected by the heteroduplex/SSCA screening procedure

Christèle Dubourg, Sylvie Odent, Patricia Fergelot, Jean-Yves Le Gall, Véronique David, Martine Blayau

Journal:

Year:

1999

Language:

english

File:

PDF, 115 KB

english, 1999

6

Phenotypic and molecular variability of the holoprosencephalic spectrum

Leila Lazaro, Christéle Dubourg, Laurent Pasquier, Franck Le Duff, Martine Blayau, Marie-Renée Durou, Armelle Thomas de la Pintière, Céline Aguilella, Véronique David, Sylvie Odent

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 128 KB

english, 2004

7

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

Ian Dorval, Pascal Jézéquel, Bruno Chauvel, Christèle Dubourg, Patricia Fergelot, Jean Yves Le Gall, Michel Roussey, Martine Blayau

Journal:

Year:

1995

Language:

english

File:

PDF, 194 KB

english, 1995

8

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

Christèle Dubourg, Leïla Lazaro, Laurent Pasquier, Claude Bendavid, Martine Blayau, Franck Le Duff, Marie-Renée Durou, Sylvie Odent, Véronique David

Journal:

Year:

2004

Language:

english

File:

PDF, 225 KB

english, 2004

9

CFTR genotypes in patients with normal or borderline sweat chloride levels

Delphine Feldmann, Remy Couderc, Marie-Pierre Audrezet, Claude Ferec, Thierry Bienvenu, Marie Desgeorges, Mireille Claustres, Hervé Mittre, Martine Blayau, Dominique Bozon, Marie-Claire Malinge, Nicol

Journal:

Year:

2003

Language:

english

File:

PDF, 40 KB

english, 2003

10

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

Beatrice Ly-Sunnaram, Catherine Henry, Virginie Gandemer, Franseza Le Mee, Florence Burtin, Martine Blayau, Jean-Michel Cayuela, Magalie Oster, Philippe Clech, Marc Rambeau, Celine Marie, Cecilia Pamp

Journal:

Leukemia Research

Year:

2005

Language:

english

File:

PDF, 311 KB

english, 2005

11

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

Virginie Scotet, Ingrid Duguépéroux, Marie-Pierre Audrézet, Martine Blayau, Pierre Boisseau, Hubert Journel, Philippe Parent, Claude Férec

Journal:

Prenatal Diagnosis

Year:

2008

Language:

english

File:

PDF, 124 KB

english, 2008

12

Nonvisualization of fetal gallbladder increases the risk of cystic fibrosis

Ingrid Duguépéroux, Virginie Scotet, Marie-Pierre Audrézet, Anne-Hélène Saliou, Michel Collet, Martine Blayau, Sébastien Schmitt, Alain Kitzis, Fleur Fresquet, Françoise Müller, Claude Férec

Journal:

Prenatal Diagnosis

Year:

2012

Language:

english

File:

PDF, 312 KB

english, 2012

13

HLA class I gene polymorphism in genetic hemochromatosis

Anne-Marie Jouanolle, Jacqueline Yaouanq, Martine Blayau, Muriel Périchon, Renée Fauchet, Marie-Pierre Font, Jean-Yves Gall, Véronique David

Journal:

Year:

1990

Language:

english

File:

PDF, 545 KB

english, 1990

14

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

Joëlle Boretto, Anne-Marie Jouanolle, Jacqueline Yaouanq, Abdel Kahloun, Valérie Mauvieux, Martine Blayau, Muriel Perichon, André Treut, John Clayton, Nicolas Borot, Jean-Yves Gall, Pierre Pontarotti,

Journal:

Year:

1992

Language:

english

File:

PDF, 646 KB

english, 1992

15

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

I. Dorval, S. Odent, P. Jezequel, H. Journel, B. Chauvel, A. Dabadie, M. Roussey, J. Y. Gall, B. Mareec, V. David, M. Blayau

Journal:

Year:

1993

Language:

english

File:

PDF, 303 KB

english, 1993

16

Ferritin H gene polymorphism in idiopathic hemochromatosis

Véronique David, Panos Papadopoulos, Jacqueline Yaouanq, Martine Blayau, Laurent Abel, Elizabetta Zappone, Muriel Perichon, Jim Drysdale, Jean-Yves Gall, Marcel Simon

Journal:

Year:

1989

Language:

english

File:

PDF, 443 KB

english, 1989

17

Molecular screening of theTGIFgene in holoprosencephaly: identification of two novel mutations

Céline Aguilella, Christèle Dubourg, Jocelyne Attia-Sobol, Jacqueline Vigneron, Martine Blayau, Laurent Pasquier, Leila Lazaro, Sylvie Odent, Véronique David

Journal:

Year:

2003

Language:

english

File:

PDF, 190 KB

english, 2003

18

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

Virginie Scotet, Marie-Pierre Audrézet, Michel Roussey, Gilles Rault, Martine Blayau, Marc De Braekeleer, Claude Férec

Journal:

Year:

2003

Language:

english

File:

PDF, 123 KB

english, 2003

19

FRAXE : theHindIII/OXE20 restriction polymorphism is not a rare variant

M. Blayau, Sylvie Odent, Christèle Dubourg, Véronique David

Journal:

Year:

1998

Language:

english

File:

PDF, 26 KB

english, 1998

20

Colorectal Adenomatous Polyposis Associated withMYHMutations: Genotype and Phenotype Characteristics

Guillaume Bouguen, Sylvain Manfredi, Martine Blayau, Catherine Dugast, Bruno Buecher, Dominique Bonneau, Laurent Siproudhis, Véronique David, Jean-François Bretagne

Journal:

Diseases of the Colon & Rectum

Year:

2007

Language:

english

File:

PDF, 281 KB

english, 2007

21

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

M. Roussey, A. Le Bihannic, V. Scotet, M. P. Audrezet, M. Blayau, M. Dagorne, V. David, E. Deneuville, J. L. Giniès, M. Laurans, V. Moisan-Petit, G. Rault, P. Vigneron, C. Férec

Journal:

Journal of Inherited Metabolic Disease

Year:

2007

Language:

english

File:

PDF, 203 KB

english, 2007

22

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

René, Céline, Paulet, Damien, Girodon, Emmanuelle, Costa, Catherine, Lalau, Guy, Leclerc, Julie, Cabet-Bey, Faïza, Bienvenu, Thierry, Blayau, Martine, Iron, Albert

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 410 KB

english, 2010

23

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

Pasquier, L, Dubourg, C, Blayau, M, Lazaro, L, Le Marec, B, David, V, Odent, S

Journal:

European Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 199 KB

english, 2000

24

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

Virginie Scotet, Ingrid Duguépéroux, Marie-Pierre Audrézet, Séverine Audebert-Bellanger, Matthieu Muller, Martine Blayau, Claude Férec

Journal:

American Journal of Obstetrics and Gynecology

Year:

2010

Language:

english

File:

PDF, 281 KB

english, 2010

25

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

M. Blayau, G. Leray, C. Prodhomme, V. David, P. Peron

Journal:

Clinica Chimica Acta

Year:

1986

Language:

english

File:

PDF, 401 KB

english, 1986

26

Dépistage néonatal de la mucoviscidose : problèmes diagnostiques et aspects éthiques des formes frontières

M. Roussey, A. Le Bihannic, M.P. Audrezet, M. Blayau, M. Dagorne, E. Deneuville, C. Férec, H. Journel, V. Moisan-Petit, G. Rault, V. Scotet, V. Storni, P. Vigneron

Journal:

Archives de Pédiatrie

Year:

2005

Language:

french

File:

PDF, 89 KB

french, 2005

27

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

Benusiglio, Patrick R., Caron, Olivier, Consolino, Emilie, Duvillard, Pierre, Coulet, Florence, Blayau, Martine, Malka, David

Journal:

International Journal of Cancer

Year:

2013

Language:

english

File:

PDF, 92 KB

english, 2013

28

372* Outcome of the pregnancies with an echogenic bowel detected by ultrasonography: the 15 year-experience of Brittany (western France)

V. Scotet, I. Duguépéroux, M.P. Audrezet, M. Blayau, P. Boisseau, P. Parent, H. Journel, C. Férec

Journal:

Journal of Cystic Fibrosis

Year:

2007

Language:

english

File:

PDF, 63 KB

english, 2007

29

355 Family testing: the 17-year experience of Brittany (western France)

I. Duguépéroux, V. Scotet, M.P. Audrezet, M. Blayau, P. Boisseau, P. Parent, H. Journel, C. Férec

Journal:

Journal of Cystic Fibrosis

Year:

2007

Language:

english

File:

PDF, 56 KB

english, 2007

30

Reproductive attitudes of parents of CF child: pregnancy termination vs choice to maintain an affected pregnancy

I. Duguépéroux, V. Scotet, M.P. Audrézet, M. Blayau, H. Journel, P. Parent, C. Férec

Journal:

Journal of Cystic Fibrosis

Year:

2008

Language:

english

File:

PDF, 57 KB

english, 2008

31

Ability of ultrasonography to detect cystic fibrosis in utero

V. Scotet, I. Duguépéroux, M.P. Audrézet, M. Blayau, C. Férec

Journal:

Journal of Cystic Fibrosis

Year:

2009

Language:

english

File:

PDF, 59 KB

english, 2009

32

Non-visualization of the gallbladder: a major risk of cystic fibrosis when associated with echogenic bowel

I. Duguépéroux, V. Scotet, M.-P. Audrézet, A.-H. Saliou, M. Blayau, S. Schmitt, A. Kitzis, C. Férec

Journal:

Journal of Cystic Fibrosis

Year:

2010

Language:

english

File:

PDF, 47 KB

english, 2010

33

Familial linitis plastica: Identification of a hitherto unreported germline E-cadherin mutation

Laurence Dussaulx-Garin, Martine Blayau, Mael Pagenault, Jean-Luc Raoul, Nathalie Heresbach-Leberre, Jean-Pierre Campion, Veronique David, Jean-Francois T. Bretagne

Journal:

Gastroenterology

Year:

2000

Language:

english

File:

PDF, 175 KB

english, 2000

34

707 Methylation Specific Multiplex Ligation-Dependent Probe Amplification (MS-MLPA): an efficient assay for hMLH1 methylation detection in colorectal cancer

S. Theoleyre, M. Blayau, C. Dugast, N. Rioux-Leclercq, M. Denis

Journal:

European Journal of Cancer Supplements

Year:

2010

Language:

english

File:

PDF, 47 KB

english, 2010

35

Conduite rationnelle de l’antibioprophylaxie : revue systématique en chirurgie carcinologique ORL

Garnier, M., Blayau, C., Fulgencio, J.-P., Baujat, B., Arlet, G., Bonnet, F., Quesnel, C.

Journal:

Annales Françaises d'Anesthésie et de Réanimation

Year:

2013

File:

PDF, 393 KB

2013

36

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

Guenet, Lucienne, Gueble-Val, Florence, Blayau, Martine, Le Treut, André, Le Gall, Jean-Yves

Journal:

Biochimica et Biophysica Acta (BBA) - General Subjects

Year:

1986

Language:

english

File:

PDF, 730 KB

english, 1986

37

MANCHESTER.

Guenet, Lucienne, Gueble-Val, Florence, Blayau, Martine, Le Treut, André, Le Gall, Jean-Yves

Journal:

Year:

1897

Language:

english

File:

PDF, 413 KB

english, 1897

38

Guest reviewers and forthcoming special issues

Guenet, Lucienne, Gueble-Val, Florence, Blayau, Martine, Le Treut, André, Le Gall, Jean-Yves

Journal:

Analysis and Intervention in Developmental Disabilities

Year:

1983

Language:

english

File:

PDF, 49 KB

english, 1983

39

Short-term prednisolone followed by recombinant human alpha-interferon alone or combined with adenine-arabinoside: A prospective and randomized trial. Preliminary results

Brissot, P, Jacquelinet, C, David, V, Guyader, D, Jouanolle, H, Gueguen, M, Blayau, M, Lescoat, G, Messner, M, Deugnier, Y

Journal:

Journal of Hepatology

Year:

1990

File:

PDF, 47 KB

1990

40

Short-term prednisolone followed by recombinant human α-interferon alone or combined with adenine-arabinoside in chronic hepatitis B

Brissot, Pierre, Jacquelinet, Christian, Jouanolle, Hervé, David, Véronique, Guyader, Dominique, Guéguen, Monique, Blayau, Martine, Lescoat, Gérard, Messner, Michel, Deugnier, Yves

Journal:

Journal of Hepatology

Year:

1991

Language:

english

File:

PDF, 569 KB

english, 1991

41

Leucémie myéloïde chronique chromosome Philadelphie négatif: intérêt diagnostique de la biologie moléculaire

Grosbois, B., Blayau, M., Morice, P., Lemée, F., Le Gall, J.Y., Leblay, R.

Journal:

La Revue de Médecine Interne

Year:

1990

File:

PDF, 82 KB

1990

42

Insuffisance rénale aiguë postopératoire

Blayau, Clarisse

Journal:

Le Praticien en Anesthésie Réanimation

Year:

2011

Language:

french

File:

PDF, 549 KB

french, 2011

43

Évaluation du ratio Ca total/Ca ionisé comme marqueur d’accumulation de citrate, en comparaison au dosage de la citratémie plasmatique, au cours de l’hémodialyse continue au citrate

Blayau, C., Ridel, C., Ouahabi, S., Taconet, C., Garnier, M., Hafiani, M., Fulgencio, J.-P., Fartoukh, M., Bonnet, F., Lefèvre, G., Quesnel, C.

Journal:

Annales Françaises d'Anesthésie et de Réanimation

Year:

2014

Language:

french

File:

PDF, 168 KB

french, 2014

44

Genomic variations integrated database for MUTYH -associated adenomatous polyposis

Grandval, Philippe, Fabre, Aurélie J, Gaildrat, Pascaline, Baert-Desurmont, Stéphanie, Blayau, Martine, Buisine, Marie-Pierre, Coulet, Florence, Maugard, Christine, Pinson, Stéphane, Remenieras, Audre

Journal:

Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 411 KB

english, 2015

45

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

Reggoug, Sanae, Ropert, Alain, Blayau, Martine, Zeddini, Abdelfatteh, Dugast, Catherine, Péquin, Pierrick, Meunier, Bernard, Bretagne, Jean-François

Journal:

American Journal of Gastroenterology

Year:

2009

Language:

english

File:

PDF, 397 KB

english, 2009

46

Dinucleotide repeat polymorphism at the FTHPI locus of chromosome 6

Mauvieux, V., Jouanolle, A.M., Kahloun, A. EI, Blayau, M., Call, J.Y. Le, David, V.

Journal:

Nucleic Acids Research

Year:

1991

Language:

english

File:

PDF, 1.59 MB

english, 1991

47

Familial screening for genetic haemochromatosis by means of DNA markers.

Yaouanq, J, el Kahloun, A, Chorney, M, Jouanolle, A M, Mauvieux, V, Perichon, M, Blayau, M, Pontarotti, P, Le Gall, J Y, David, V

Journal:

Journal of Medical Genetics

Year:

1992

Language:

english

File:

PDF, 799 KB

english, 1992

48

Expression of the Sonic hedgehog (SHH) Gene during Early Human Development and Phenotypic Expression of New Mutations Causing Holoprosencephaly

Odent, S., Attie-Bitach, T., Blayau, M., Mathieu, M., Auge, J., Delezoide, A. L., Le Gall, J. Y., Le Marec, B., Munnich, A., David, V., Vekemans, M.

Journal:

Human Molecular Genetics

Year:

1999

Language:

english

File:

PDF, 390 KB

english, 1999

49

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

Mercier, Sandra, Toutain, Annick, Toussaint, Aurélie, Raynaud, Martine, de Barace, Claire, Marcorelles, Pascale, Pasquier, Laurent, Blayau, Martine, Pénisson-Besnier, Isabelle, Romero, Norma, Espil, C

Journal:

European Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 77 KB

english, 2013

50

WS11.1 Highlighting the importance of carrier testing in CF families

Duguépéroux, I., L'Hostis, C., Audrézet, M.-P., Rault, G., Parent, P., Blayau, M., Schmitt, S., Férec, C., Scotet, V.

Journal:

Journal of Cystic Fibrosis

Year:

2015

Language:

english

File:

PDF, 64 KB

english, 2015

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