Patrick Calvas : rechercher sur Z-Library

Le plus grand référentiel d'articles scientifiques au monde. 70,000,000+ d'articles gratuitement.

Don't use scam websites

Livres
Articles (80)
Les plus populaires
Liste
- Liste
- Tableau

1

Opto-electronic DNA chip-based integrated card for clinical diagnostics

Gilles Marchand, Patrick Broyer, Véronique Lanet, Cyril Delattre, Frédéric Foucault, Lionel Menou, Bernard Calvas, Denis Roller, Frédéric Ginot, Raymond Campagnolo, Frédéric Mallard

Journal:

Biomedical Microdevices

Année:

2008

Langue:

english

Fichier:

PDF, 463 KB

english, 2008

2

DNA-Based Prenatal Diagnosis of Harlequin Ichthyosis and Characterization of ABCA12 Mutation Consequences

Akiyama, Masashi, Titeux, Matthias, Sakai, Kaori, McMillan, James R, Tonasso, Laure, Calvas, Patrick, Jossic, Frederique, Hovnanian, Alain, Shimizu, Hiroshi

Journal:

The Journal of Investigative Dermatology

Année:

2006

Langue:

english

Fichier:

PDF, 201 KB

english, 2006

3

Functional classification of ATM variants in Ataxia‐Telangiectasia patients

Fievet, Alice, Bellanger, Dorine, Rieunier, Guillaume, Dubois d'Enghien, Catherine, Sophie, Julia, Calvas, Patrick, Carriere, Jean‐Paul, Anheim, Mathieu, Castrioto, Anna, Flabeau, Olivier, Degos, Bert

Journal:

Année:

2019

Fichier:

PDF, 908 KB

2019

4

Partial duplication [dup. TCAC (178)] and novel point mutations (T125M, G188R, A209V, and H302L) of the ornithine transcarbamylase gene in congenital hyperammonemia

Brigitte Gilbert-Dussardier, Bertrand Segues, Jean-Michel Rozet, Daniel Rabier, Patrick Calvas, Lionel de Lumley, Jean-Paul Bonnefond, Arnold Munnich

Journal:

Année:

1996

Langue:

english

Fichier:

PDF, 308 KB

english, 1996

5

A 3-base pair in-frame deletion in exon 8 (delGlu272/273) of the ornithine transcarbamylase gene in late-onset hyperammonemic coma

Bertrand Ségues, Pascale Saugier Veber, Daniel Rabier, Patrick Calvas, Jean-Marie Saudubray, Brigitte Gilbert-Dussardier, Jean-Paul Bonnefont, Arnold Munnich

Journal:

Année:

1996

Langue:

english

Fichier:

PDF, 226 KB

english, 1996

6

Donnai-Barrow syndrome: Four additional patients

Nicolas Chassaing, Didier Lacombe, Dominique Carles, Patrick Calvas, Robert Saura, Eric Bieth

Journal:

American Journal of Medical Genetics Part A

Année:

2003

Langue:

english

Fichier:

PDF, 192 KB

english, 2003

7

Germinal mosaicism and familial recurrence of a SOX2 mutation with highly variable phenotypic expression extending from AEG syndrome to absence of ocular involvement

Nicolas Chassaing, Brigitte Gilbert-Dussardier, Florence Nicot, Véronique Fermeaux, Férechté Encha-Razavi, Maryse Fiorenza, Annick Toutain, Patrick Calvas

Journal:

American Journal of Medical Genetics Part A

Année:

2007

Langue:

english

Fichier:

PDF, 130 KB

english, 2007

8

COL4A1 mutation in Axenfeld–Rieger anomaly with leukoencephalopathy and stroke

Igor Sibon, Isabelle Coupry, Patrice Menegon, Jean-Pierre Bouchet, Philippe Gorry, Ingrid Burgelin, Patrick Calvas, Isabelle Orignac, Vincent Dousset, Didier Lacombe, Jean-Marc Orgogozo, Benoît Arveil

Journal:

Annals of Neurology

Année:

2007

Langue:

english

Fichier:

PDF, 664 KB

english, 2007

9

Novel intragenic deletions and point mutations of the ornithine transcarbamylase gene in congenital hyperammonemia

Patrick Calvas, Bertrand Ségues, Jean-Michel Rozet, Daniel Rabier, Jean-Paul Bonnefond, Arnold Munnich

Journal:

Année:

1998

Langue:

english

Fichier:

PDF, 320 KB

english, 1998

10

Leber congenital amaurosis: Comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype–phenotype correlations as a strategy for molecular diagnosis

Sylvain Hanein, Isabelle Perrault, Sylvie Gerber, Gaëlle Tanguy, Fabienne Barbet, Dominique Ducroq, Patrick Calvas, Hélène Dollfus, Christian Hamel, Tuija Lopponen, Francis Munier, Louisa Santos, Stav

Journal:

Année:

2004

Langue:

english

Fichier:

PDF, 212 KB

english, 2004

11

Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients

David Baux, Lise Larrieu, Catherine Blanchet, Christian Hamel, Safouane Ben Salah, Anne Vielle, Brigitte Gilbert-Dussardier, Muriel Holder, Patrick Calvas, Nicole Philip, Patrick Edery, Dominique Bonn

Journal:

Année:

2007

Langue:

english

Fichier:

PDF, 362 KB

english, 2007

12

Digenic inheritance of mutations in FOXC1 and PITX2 : Correlating transcription factor function and axenfeld-rieger disease severity

Daniel Kelberman, Lily Islam, Susan E. Holder, Thomas S. Jacques, Patrick Calvas, Raoul C. Hennekam, Ken K. Nischal, Jane C. Sowden

Journal:

Année:

2011

Langue:

english

Fichier:

PDF, 408 KB

english, 2011

13

Non-USH2A mutations in USH2 patients

Thomas Besnard, Christel Vaché, David Baux, Lise Larrieu, Caroline Abadie, Catherine Blanchet, Sylvie Odent, Patricia Blanchet, Patrick Calvas, Christian Hamel, Hélène Dollfus, Geneviève Lina-Granade,

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 304 KB

english, 2012

14

Contribution of ABCC6 genomic rearrangements to the diagnosis of pseudoxanthoma elasticum in French patients

Nicolas Chassaing, Ludovic Martin, Sylvie Bourthoumieu, Patrick Calvas, Alain Hovnanian

Journal:

Année:

2007

Langue:

english

Fichier:

PDF, 333 KB

english, 2007

15

A mutation at codon 279 (N279K) in exon 10 of theTaugene causes a tauopathy with dementia and supranuclear palsy

Marie-Bernadette Delisle, Jill R. Murrell, Rosemarie Richardson, James A. Trofatter, Olivier Rascol, Xavier Soulages, Michel Mohr, Patrick Calvas, B. Ghetti

Journal:

Acta Neuropathologica

Année:

1999

Langue:

english

Fichier:

PDF, 1.65 MB

english, 1999

16

Novel ABCC6 Mutations in Pseudoxanthoma Elasticum

Chassaing, Nicolas, Martin, Ludovic, Mazereeuw, Juliette, Barrie, Laurence, Nizard, Sonia, Bonafe, Jean-Louis, Calvas, Patrick, Hovnanian, Alain

Journal:

The Journal of Investigative Dermatology

Année:

2004

Langue:

english

Fichier:

PDF, 89 KB

english, 2004

17

V-Shaped Hyperpigmented Linear Lesions, Patchy Hypotrichosis, and Teeth Abnormalities in a Young Girl

Susan B. Mallory, Bernice R. Krafchik, Agustí Toll, Marie-Claire Vincent, Patrick Calvas, Ramon M. Pujol

Journal:

Pediatric Dermatology

Année:

2007

Langue:

english

Fichier:

PDF, 303 KB

english, 2007

18

Retinal–specific guanylate cyclase gene mutations in Leber's congenital amaurosis

Perrault, Isabella, Rozet, Jean Michel, Calvas, Patrick, Gerber, Sylvie, Camuzat, Agnès, Dollfus, Hélène, Châtelin, Sophie, Souied, Eric, Ghazi, Ihmad, Leowski, Corinne

Journal:

Nature Genetics

Année:

1996

Fichier:

PDF, 523 KB

1996

19

Mutational spectrum of the ED1 gene in X-linked hypohidrotic ectodermal dysplasia

Vincent, Marie C, Biancalana, Valérie, Ginisty, Danièle, Mandel, Jean L, Calvas, Patrick

Journal:

European Journal of Human Genetics

Année:

2001

Langue:

english

Fichier:

PDF, 177 KB

english, 2001

20

Screening for PAX6 gene mutations is consistent with haploinsufficiency as the main mechanism leading to various ocular defects

Vincent, Marie-Claire, Pujo, Anne-Laure, Olivier, David, Calvas, Patrick

Journal:

European Journal of Human Genetics

Année:

2003

Langue:

english

Fichier:

PDF, 92 KB

english, 2003

21

Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay

Naïmi, Mourad, Bannwarth, Sylvie, Procaccio, Vincent, Pouget, Jean, Desnuelle, Claude, Pellissier, Jean-François, Rötig, Agnes, Munnich, Arnold, Calvas, Patrick, Richelme, Christian

Journal:

European Journal of Human Genetics

Année:

2006

Langue:

english

Fichier:

PDF, 142 KB

english, 2006

22

Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay

Naïmi, Mourad, Bannwarth, Sylvie, Procaccio, Vincent, Pouget, Jean, Desnuelle, Claude, Pellissier, Jean-François, Rötig, Agnes, Munnich, Arnold, Calvas, Patrick, Richelme, Christian

Journal:

European Journal of Human Genetics

Année:

2007

Fichier:

PDF, 33 KB

2007

23

Generalized Epidermolytic Hyperkeratosis in Two Unrelated Children from Parents with Localized Linear Form, and Prenatal Diagnosis

Chassaing, Nicolas, Kanitakis, Jean, Sportich, Stéphanie, Cordier-Alex, Marie-Pierre, Titeux, Matthias, Calvas, Patrick, Claudy, Alain, Berbis, P, Hovnanian, Alain

Journal:

The Journal of Investigative Dermatology

Année:

2006

Langue:

english

Fichier:

PDF, 136 KB

english, 2006

24

Structure and Physical Mapping of DR1, a TATA-Binding Protein-Associated Phosphoprotein Gene, to Chromosome 1p22.1 and Its Exclusion in Stargardt Disease (STGD)

Jean-Michel Rozet, Sylvie Gerber, Isabelle Perrault, Agnès Camuzat, Patrick Calvas, Evani Viegas-Pequignot, Denise Molina-Gomes, Denis Le Paslier, Ilya Chumakov, Arnold Munnich, Josseline Kaplan

Journal:

Année:

1996

Langue:

english

Fichier:

PDF, 155 KB

english, 1996

25

Variable phenotype related to a novel PAX 6 mutation (IVS4+5G>C) in a family presenting congenital nystagmus and foveal hypoplasia

Marie-Claire Vincent, Raffaella Gallai, David Olivier, Claude Speeg-Schatz, Jacques Flament, Patrick Calvas, HélÈne Dollfus

Journal:

American Journal of Ophthalmology

Année:

2004

Langue:

english

Fichier:

PDF, 328 KB

english, 2004

26

A 17q12 chromosomal duplication associated with renal disease and esophageal atresia

Stanislas Faguer, Nicolas Chassaing, Flavio Bandin, Cathie Prouheze, Benoît Arveiler, Caroline Rooryck, Marie-Béatrice Nogier, Dominique Chauveau, Patrick Calvas, Stéphane Decramer

Journal:

European Journal of Medical Genetics

Année:

2011

Langue:

english

Fichier:

PDF, 236 KB

english, 2011

27

Heritability of refractive value and ocular biometrics

Sandrine Paget, Zulma G. Vitezica, François Malecaze, Patrick Calvas

Journal:

Experimental Eye Research

Année:

2008

Langue:

english

Fichier:

PDF, 166 KB

english, 2008

28

Axial length: An underestimated endophenotype of myopia

Weihua Meng, Jacqueline Butterworth, Francois Malecaze, Patrick Calvas

Journal:

Medical Hypotheses

Année:

2010

Langue:

english

Fichier:

PDF, 104 KB

english, 2010

29

Myopia and iris colour: A possible connection?

Weihua Meng, Jacqueline Butterworth, Patrick Calvas, Francois Malecaze

Journal:

Medical Hypotheses

Année:

2012

Langue:

english

Fichier:

PDF, 130 KB

english, 2012

30

Corneal Ectasia after Photorefractive Keratectomy for Low Myopia

François Malecaze, Julien Coullet, Patrick Calvas, Pierre Fournié, Jean-Louis Arné, Christine Brodaty

Journal:

Année:

2006

Langue:

english

Fichier:

PDF, 2.50 MB

english, 2006

31

Expression of a liver/bone–intestinal hybrid of alkaline phosphatase in neutrophils of Down's syndrome patients

Henri Vergnes, Jean Grozdea, Colette Denier, Georges Bourrouillou, Patrick Calvas

Journal:

Clinica Chimica Acta

Année:

1999

Langue:

english

Fichier:

PDF, 233 KB

english, 1999

32

Perturbation in dystrophin-associated glycoprotein complex in a boy with Becker muscular dystrophy

François Rivier, Bernard Echenne, Yves Chaix, Agnès Robert, Marie B Delisle, Patrick Calvas, Dominique Mornet

Journal:

Brain and Development

Année:

2000

Langue:

english

Fichier:

PDF, 270 KB

english, 2000

33

Mapping of Spinocerebellar Ataxia 13 to Chromosome 19q13.3-q13.4 in a Family with Autosomal Dominant Cerebellar Ataxia and Mental Retardation

Alexandra Herman-Bert, Giovanni Stevanin, Jean-Claude Netter, Olivier Rascol, David Brassat, Patrick Calvas, Agnès Camuzat, Qiu-ping Yuan, Martin Schalling, Alexandra Dürr, Alexis Brice

Journal:

The American Journal of Human Genetics

Année:

2000

Langue:

english

Fichier:

PDF, 391 KB

english, 2000

34

X-Linked Mental Retardation and Autism Are Associated with a Mutation in the NLGN4 Gene, a Member of the Neuroligin Family

Frédéric Laumonnier, Frédérique Bonnet-Brilhault, Marie Gomot, Romuald Blanc, Albert David, Marie-Pierre Moizard, Martine Raynaud, Nathalie Ronce, Eric Lemonnier, Patrick Calvas, Béatrice Laudier, Jam

Journal:

The American Journal of Human Genetics

Année:

2004

Langue:

english

Fichier:

PDF, 255 KB

english, 2004

35

Cytogenetic Investigations of Infertile Men With Low Sperm Counts: A 25-Year Experience

MARIE-CLAIRE VINCENT, MYRIAM DAUDIN, PHILIPPE DE MAS, GERARD MASSAT, ROGER MIEUSSET, FRANCIS PONTONNIER, PATRICK CALVAS, LOUIS BUJAN, GEORGES BOURROUILLOU Dr

Journal:

Journal of Andrology

Année:

2002

Langue:

english

Fichier:

PDF, 42 KB

english, 2002

36

t(9;11)(p22;q23) translocation in blastic phase of chronic myeloid leukemia

Nicole Dastugue, Eliane Duchayne, Françoise Huguet, Cécile Demur, Henri Plaisancie, Patrick Calvas, Georges Bourrouillou, Jacques Pris, Pierre Colombies

Journal:

Cancer Genetics and Cytogenetics

Année:

1992

Langue:

english

Fichier:

PDF, 1.12 MB

english, 1992

37

Axial Length of Myopia: A Review of Current Research

Meng, Weihua, Butterworth, Jacqueline, Malecaze, François, Calvas, Patrick

Journal:

Ophthalmologica

Année:

2011

Langue:

english

Fichier:

PDF, 216 KB

english, 2011

38

Births, Marriages and Deaths

Srour, Myriam, Chitayat, David, Caron, Véronique, Chassaing, Nicolas, Bitoun, Pierre, Patry, Lysanne, Cordier, Marie-Pierre, Capo-Chichi, José-Mario, Francannet, Christine, Calvas, Patrick, Ragge, Nic

Journal:

Année:

1941

Langue:

english

Fichier:

PDF, 209 KB

english, 1941

39

Recessive and Dominant Mutations in Retinoic Acid Receptor Beta in Cases with Microphthalmia and Diaphragmatic Hernia

Srour, Myriam, Chitayat, David, Caron, Véronique, Chassaing, Nicolas, Bitoun, Pierre, Patry, Lysanne, Cordier, Marie-Pierre, Capo-Chichi, José-Mario, Francannet, Christine, Calvas, Patrick, Ragge, Nic

Journal:

The American Journal of Human Genetics

Année:

2013

Langue:

english

Fichier:

PDF, 835 KB

english, 2013

40

Recessive and Dominant Mutations in Retinoic Acid Receptor Beta in Cases with Microphthalmia and Diaphragmatic Hernia

Srour, Myriam, Chitayat, David, Caron, Véronique, Chassaing, Nicolas, Bitoun, Pierre, Patry, Lysanne, Cordier, Marie-Pierre, Capo-Chichi, José-Mario, Francannet, Christine, Calvas, Patrick, Ragge, Nic

Journal:

The American Journal of Human Genetics

Année:

2013

Langue:

english

Fichier:

PDF, 53 KB

english, 2013

41

Distal 10q monosomy: New evidence for a neurobehavioral condition?

Plaisancié, Julie, Bouneau, Laurence, Cances, Claude, Garnier, Christelle, Benesteau, Jacques, Leonard, Samantha, Bourrouillou, Georges, Calvas, Patrick, Vigouroux, Adeline, Julia, Sophie, Bieth, Eric

Journal:

European Journal of Medical Genetics

Année:

2014

Langue:

english

Fichier:

PDF, 990 KB

english, 2014

42

Natural autoantibodies in nude and normal outbred (Swiss) and inbred (BALBc) mice

Lymberi, Peggy, Blancher, Antoine, Calvas, Patrick, Avrameas, Stratis

Journal:

Journal of Autoimmunity

Année:

1989

Langue:

english

Fichier:

PDF, 869 KB

english, 1989

43

THE MEDICAL INSPECTION OF CHILDREN ATTENDING ELEMENTARY SCHOOLS.

Lymberi, Peggy, Blancher, Antoine, Calvas, Patrick, Avrameas, Stratis

Journal:

Année:

1906

Langue:

english

Fichier:

PDF, 183 KB

english, 1906

44

The HNF1B score is a simple tool to select patients for HNF1B gene analysis

Faguer, Stanislas, Chassaing, Nicolas, Bandin, Flavio, Prouheze, Cathie, Garnier, Arnaud, Casemayou, Audrey, Huart, Antoine, Schanstra, Joost P, Calvas, Patrick, Decramer, Stéphane, Chauveau, Dominiqu

Journal:

Kidney International

Année:

2014

Langue:

english

Fichier:

PDF, 357 KB

english, 2014

45

Diagnosis, management, and prognosis of HNF1B nephropathy in adulthood

Faguer, Stanislas, Decramer, Stéphane, Chassaing, Nicolas, Bellanné-Chantelot, Christine, Calvas, Patrick, Beaufils, Sandrine, Bessenay, Lucie, Lengelé, Jean-Philippe, Dahan, Karine, Ronco, Pierre, De

Journal:

Kidney International

Année:

2011

Langue:

english

Fichier:

PDF, 364 KB

english, 2011

46

Avoiding the loss of shade coffee plantations: how to derive conservation payments for risk-averse land-users

Luz Maria Castro,Baltazar Calvas,Patrick Hildebrandt…

Journal:

Agroforestry Systems

Année:

2013

Langue:

english

Fichier:

PDF, 554 KB

english, 2013

47

Mutations in the Newly Identified RAX Regulatory Sequence Are Not a Frequent Cause of Micro/Anophthalmia

Chassaing, Nicolas, Vigouroux, Adeline, Calvas, Patrick

Journal:

Genetic Testing and Molecular Biomarkers

Année:

2009

Langue:

english

Fichier:

PDF, 52 KB

english, 2009

48

Afforestation or intense pasturing improve the ecological and economic value of abandoned tropical farmlands

Knoke, Thomas, Bendix, Jörg, Pohle, Perdita, Hamer, Ute, Hildebrandt, Patrick, Roos, Kristin, Gerique, Andrés, Sandoval, María L., Breuer, Lutz, Tischer, Alexander, Silva, Brenner, Calvas, Baltazar, A

Journal:

Nature Communications

Année:

2014

Langue:

english

Fichier:

PDF, 421 KB

english, 2014

49

Identification of the IRXB Gene Cluster as Candidate Genes in Severe Dysgenesis of the Ocular Anterior Segment

Chaabouni, Myriam, Etchevers, Heather, De Blois, Marie Christine, Calvas, Patrick, Waill-Perrier, Marie Christine, Vekemans, Michel, Romana, Serge Pierrick

Journal:

Investigative Ophthalmology & Visual Science

Année:

2010

Langue:

english

Fichier:

PDF, 1.27 MB

english, 2010

50

Genetic Factors for Choroidal Neovascularization Associated with High Myopia

Leveziel, Nicolas, Yu, Yi, Reynolds, Robyn, Tai, Albert, Meng, Weihua, Caillaux, Violaine, Calvas, Patrick, Rosner, Bernard, Malecaze, François, Souied, Eric H., Seddon, Johanna M.

Journal:

Investigative Ophthalmology & Visual Science

Année:

2012

Langue:

english

Fichier:

PDF, 165 KB

english, 2012