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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

Insuffisance rénale aiguë postopératoire

Blayau, Clarisse

Journal:

Le Praticien en Anesthésie Réanimation

Year:

2011

Language:

french

File:

PDF, 549 KB

french, 2011

4

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

5

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

6

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

7

Disparity of the “screen-and-isolate” policy for multidrug-resistant organisms: a national survey in French adult ICUs

Coppéré, Zoé, Voiriot, Guillaume, Blayau, Clarisse, Gibelin, Aude, Labbe, Vincent, Fulgencio, Jean Pierre, Fartoukh, Muriel, Djibré, Michel

Journal:

American Journal of Infection Control

Year:

2018

Language:

english

File:

PDF, 529 KB

english, 2018

8

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

9

A 2-year multicenter, observational, prospective, cohort study on extracorporeal CO2 removal in a large metropolis area

Augy, J. L., Aissaoui, N., Richard, C., Maury, E., Fartoukh, M., Mekontso-Dessap, A., Paulet, R., Anguel, N., Blayau, C., Cohen, Y., Chiche, J. D., Gaudry, S., Voicu, S., Demoule, A., Combes, A., Mega

Journal:

Journal of Intensive Care

Year:

2019

Language:

english

File:

PDF, 575 KB

english, 2019

10

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

11

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

12

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

13

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, Espil, Caroline, Parent, Philippe, Journel, Hubert,

Journal:

European Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 938 KB

english, 2013

14

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

15

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

16

Two polymorphisms at the locus D698 defined by a YAC

David, V., Boretto, J., Jouanolle, A. M., Mauvieux, V., El Khaloun, A., Périchon, M., Blayau, M., Pontarotti, P.

Journal:

Nucleic Acids Research

Year:

1990

Language:

english

File:

PDF, 1.38 MB

english, 1990

17

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

18

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

19

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

20

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

21

Insuffisance ovarienne prématurée chez deux patientes présentant une délétion Xq

Jauffret, Vincent, Ravel, Célia, Cherot, Elouan, Dubourg, Christele, Blayau, Martine, Beaumont-Epinette, Marie-Pascale, Halet, Guillaume, Odent, Sylvie, Belaud-Rotureau, Marc-Antoine, Jaillard, Sylvie

Journal:

Year:

2015

File:

PDF, 56 KB

2015

22

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

23

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

24

REMIFENTANIL TARGET-CONTROLLED INFUSION FOR FIBEROPTIC BRONCHOSCOPY IN THE ICU: FEASABILITY, SAFETY AND TOLERANCE EVALUATION

Caron, M, Parrot, A, Blayau, C, Hafiani, EM, Fulgencio, JP, Labbé, V, Djibré, M, Decavèle, M, Quesnel, C, Fartoukh, M, Pham, T

Journal:

Intensive Care Medicine Experimental

Year:

2015

Language:

english

File:

PDF, 203 KB

english, 2015

25

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

26

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

27

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

Dussaulx-Garin, Laurence, Blayau, Martine, Pagenault, Mael, Le Berre-Heresbach, Nathalie, Raoul, Jean-Luc, Campion, Jean-Pierre, David, V??ronique, Bretagne, Jean-Fran??ois

Journal:

European Journal of Gastroenterology & Hepatology

Year:

2001

Language:

english

File:

PDF, 169 KB

english, 2001

28

Simultaneous Left and Right Ventricular Thrombi Caused by Catastrophic Antiphospholipid Syndrome (CAPS)

Akdime, Florie, Voiriot, Guillaume, Lalevée, Sophie, Blayau, Clarisse, Allain, Pierre Antoine, Djibre, Michel, Gibelin, Aude, Ederhy, Stephane, Fartoukh, Muriel, Labbé, Vincent

Journal:

American Journal of Respiratory and Critical Care Medicine

Year:

2019

Language:

english

File:

PDF, 4.85 MB

english, 2019

29

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

30

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

31

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

32

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

33

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

34

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

35

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

36

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

37

Alpha-L-Fucosidase in Rat Testis During Sexual Maturity

Leray, G., Shacoori, V., Prodhomme, C., Jouanolle, A. M., Blayau, M.

Journal:

Systems Biology in Reproductive Medicine

Year:

1988

Language:

english

File:

PDF, 439 KB

english, 1988

38

Evaluation of early antimicrobial therapy adaptation guided by the BetaLACTA® test: a case-control study

Garnier, Marc, Rozencwajg, Sacha, Pham, Tài, Vimont, Sophie, Blayau, Clarisse, Hafiani, Mehdi, Fulgencio, Jean-Pierre, Bonnet, Francis, Mainardi, Jean-Luc, Arlet, Guillaume, Fartoukh, Muriel, Gallah,

Journal:

Critical Care (BioMed Central)

Year:

2017

Language:

english

File:

PDF, 1.81 MB

english, 2017

39

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

JÃ©zÃ©quel, P, Dorval, I, Fergelot, P, Chauvel, B, Le Treut, A, Le Gall, J Y, Le Lannou, D, Blayau, M

Journal:

Clinical Chemistry

Year:

1995

File:

PDF, 647 KB

1995

40

Rémifentanil en anesthésie intraveineuse à objectif de concentration au cours des fibroscopies bronchiques en réanimation : faisabilité, sécurité et évaluation de la tolérance

Caron, Margot, Parrot, Antoine, Hafiani, El Mahdi, Blayau, Clarisse, Fulgencio, Jean-Pierre, Labbé, Vincent, Djibré, Michel, Decavèle, Maxence, Quesnel, Christophe, Fartoukh, Muriel, Pham, Tài

Journal:

Anesthésie & Réanimation

Year:

2015

Language:

french

File:

PDF, 151 KB

french, 2015

41

Bénéfices du βLACTA® test pour l’adaptation précoce de l’antibiothérapie probabiliste en réanimation : étude avant-après sur 80 patients

Rozencwajg, Sacha, Vimont, Sophie, Hafiani, Mehdi, Blayau, Clarisse, Gallah, Salah, Fulgencio, Jean-Pierre, Bonnet, Francis, Fartoukh, Muriel, Arlet, Guillaume, Quesnel, Christophe, Garnier, Marc

Journal:

Anesthésie & Réanimation

Year:

2015

Language:

french

File:

PDF, 211 KB

french, 2015

42

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

43

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

44

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

45

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

46

Renal replacement therapy in adult and pediatric intensive care

Vinsonneau, Christophe, Allain-Launay, Emma, Blayau, Clarisse, Darmon, Michael, du Cheyron, Damien, Gaillot, Theophile, Honore, Patrick M., Javouhey, Etienne, Krummel, Thierry, Lahoche, Annie, Letacon

Journal:

Annals of Intensive Care

Year:

2015

Language:

english

File:

PDF, 1.03 MB

english, 2015

47

Utilisation de l’analyse chromosomique par puce à ADN (ACPA) dans le bilan étiologique génétique des femmes présentant une insuffisance ovarienne prématurée

Jaillard, Sylvie, Akloul, Linda, Blayau, Martine, Jauffret, Vincent, Odent, Sylvie, Leveque, Jean, Belaud-Rotureau, Marc-Antoine, Ravel, Célia

Journal:

Year:

2016

Language:

french

File:

PDF, 60 KB

french, 2016

48

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

49

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

50

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

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