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51

Genomic deletions of OFD1 account for 23% of oral-facial-digital type 1 syndrome after negative DNA sequencing

Christel Thauvin-Robinet, Brunella Franco, Pascale Saugier-Veber, Bernard Aral, Nadège Gigot, Anne Donzel, Lionel Van Maldergem, Eric Bieth, Valérie Layet, Michèle Mathieu, Ahmad Teebi, James Lespinas

Journal:

Year:

2009

Language:

english

File:

PDF, 118 KB

english, 2009

52

Exploring the potential role of disease-causing mutation in a gene desert: Duplication of noncoding elements 5′ of GRIA3 is associated with GRIA3 silencing and X-linked intellectual disability

Céline Bonnet, Alice Masurel-Paulet, Asma Ali Khan, Mylène Béri-Dexheimer, Patrick Callier, Francine Mugneret, Christophe Philippe, Christel Thauvin-Robinet, Laurence Faivre, Philippe Jonveaux

Journal:

Year:

2012

Language:

english

File:

PDF, 245 KB

english, 2012

53

Non-Darcy flow through anisotropic porous media

X. Wang, F. Thauvin, K.K. Mohanty

Journal:

Chemical Engineering Science

Year:

1999

Language:

english

File:

PDF, 411 KB

english, 1999

54

Prevalence of hepatitis G virus RNA in French blood donors and recipients

P. Loiseau, M. Mariotti, C. Corbi, N. Ravera, R. Girot, M. Thauvin, E. Portelette, X. Mariette, F. Roudot-Thoraval, M. Benbunan, J.-J. Lefrère

Journal:

Transfusion (Wiley)

Year:

1997

Language:

english

File:

PDF, 578 KB

english, 1997

55

A new osteochondrodysplasia with severe osteopenia, preaxial polydactyly, clefting and dysmorphic features resembling filamin-related disorders

Marina Colombani, Nicole Laurent, Martine Le Merrer, Anne-Lise Delezoide, Christel Thauvin-Robinet, Frédéric Huet, Paul Sagot, Stéphanie Couvreur, Thierry Rousseau, Stephen P. Robertson, Laurence Faiv

Journal:

Prenatal Diagnosis

Year:

2006

Language:

english

File:

PDF, 439 KB

english, 2006

56

Syndromic encephalocele in a fetal case with a 1p35-pter deletion and a 14q32-qter duplication inherited from a maternal balanced translocation

C. Thauvin-Robinet, P. Callier, N. Laurent, T. Rousseau, A. Masurel-Paulet, N. Marle, F. Huet, P. Sagot, L. Faivre, F. Mugneret

Journal:

Prenatal Diagnosis

Year:

2007

Language:

english

File:

PDF, 305 KB

english, 2007

57

Refining the critical region for congenital diaphragmatic hernia on chromosome 15q26 from the study of four fetuses

A. L. Mosca, L. Pinson, J. Andrieux, H. Copin, N. Bigi, J. Puechberty, P. Sarda, A. Receveur, H. Sevestre, S. Pigeonnat, N. Marle, M. Payet, C. Ragon, T. Rousseau, C. Thauvin-Robinet, A. Masurel-Paule

Journal:

Prenatal Diagnosis

Year:

2011

Language:

english

File:

PDF, 98 KB

english, 2011

58

Prenatal diagnosis and intrafamilial clinical heterogeneity of Fraser syndrome

Thierry Rousseau, Nicole Laurent, Christel Thauvin-Robinet, Stéphanie Lionnais, Christine Durand, Laurence Faivre, Paul Sagot

Journal:

Prenatal Diagnosis

Year:

2002

Language:

english

File:

PDF, 286 KB

english, 2002

59

Hypomandibular faciocranial dysostosis in consanguineous parents revealed by ultrasound prenatal diagnosis

Christel Thauvin-Robinet, Thierry Rousseau, Nicole Laurent, Christine Durand, Catherine Maingueneau, Valérie Cormier-Daire, Paul Sagot, Laurence Faivre, Annie Nivelon-Chevallier

Journal:

Prenatal Diagnosis

Year:

2002

Language:

english

File:

PDF, 176 KB

english, 2002

60

Prenatal overgrowth and mosaic trisomy 15q25-qter including the IGF1 receptor gene

Laurence Faivre, Thierry Rousseau, Nicole Laurent, Philippe Gosset, Damien Sanlaville, Christel Thauvin-Robinet, Véronica Cusin, Stéphanie Lionnais, Patrick Callier, Philippe Khau Van Kien, Frédéric H

Journal:

Prenatal Diagnosis

Year:

2004

Language:

english

File:

PDF, 90 KB

english, 2004

61

Prenatal diagnosis of Juberg–Hayward syndrome

Stéphanie Couvreur-Lionnais, Thierry Rousseau, Nicole Laurent, Christel Thauvin-Robinet, Eve Senet-Lacombe, Anne Lise Delezoïde, Francine Mugneret, Christine Durand, Laurence Faivre, Paul Sagot

Journal:

Prenatal Diagnosis

Year:

2005

Language:

english

File:

PDF, 213 KB

english, 2005

62

Efficacy of ciprofloxacin alone and in combination with azlocillin in experimental endocarditis due to pseudomonas aeruginosa

Cl. Thauvin, F. Lecomte, I. Le Boete, G. Grise, J. F. Lemeland

Journal:

Year:

1989

Language:

english

File:

PDF, 778 KB

english, 1989

63

Resurgence of measles in the French military forces in 2010

A. Mayet, C. Verret, R. Haus-Cheymol, S. Duron, F. De Laval, K. Sbai-Idrissi, P. Imbert, M. Janville, P. Munoz, M. Armand-Tolvy, X. Thauvin, C. Decam, J-B. Meynard, X. Deparis, R. Migliani

Journal:

European Journal of Clinical Microbiology & Infectious Diseases

Year:

2011

Language:

english

File:

PDF, 351 KB

english, 2011

64

X-linked recessive ichthyosis in a girl: strategy for identifying the causal mechanism

C. Thauvin-Robinet, D. Lambert, G. Vaillant, P. Caillier, A. Donzel, V. Cusin, F. Huet, J.-R. Teyssier, F. Mugneret, L. Faivre

Journal:

British Journal of Dermatology

Year:

2005

Language:

english

File:

PDF, 182 KB

english, 2005

65

Delineation of 15q13.3 microdeletions

A Masurel-Paulet, J Andrieux, P Callier, JM Cuisset, C Le Caignec, M Holder, C Thauvin-Robinet, B Doray, E Flori, MP Alex-Cordier, M Beri, O Boute, B Delobel, A Dieux, L Vallee, S Jaillard, S Odent, B

Journal:

Clinical Genetics

Year:

2010

Language:

english

File:

PDF, 718 KB

english, 2010

66

Outcome of kidney transplantation in type Ioral-facial-digital syndrome

Delphine Halleux, Karin Dahan, Christel Thauvin-Robinet, Bernard Aral, Claire Pouteil-Noble, Olivier Devuyst, Yves Pirson

Journal:

Transplant International

Year:

2011

Language:

english

File:

PDF, 146 KB

english, 2011

67

Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis

Isidor, Bertrand, Lindenbaum, Pierre, Pichon, Olivier, Bézieau, Stéphane, Dina, Christian, Jacquemont, Sébastien, Martin-Coignard, Dominique, Thauvin-Robinet, Christel, Le Merrer, Martine, Mandel, Jea

Journal:

Nature Genetics

Year:

2011

Language:

english

File:

PDF, 334 KB

english, 2011

68

Variable expressivity of the clinical and biochemical phenotype associated with the apolipoprotein E p.Leu149del mutation

Faivre, Laurence, Saugier-Veber, Pascale, Pais de Barros, Jean-Paul, Verges, Bruno, Couret, Bertrand, Lorcerie, Bernard, Thauvin, Christel, Charbonnier, Françoise, Huet, Frédéric, Gambert, Philippe

Journal:

European Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 124 KB

english, 2005

69

Exposure to hydroxyurea during pregnancy: a case series

Thauvin-Robinet, C, Maingueneau, C, Robert, E, Elefant, E, Guy, H, Caillot, D, Casasnovas, RO, Douvier, S, Nivelon-Chevallier, A

Journal:

Year:

2001

Language:

english

File:

PDF, 90 KB

english, 2001

70

Homozygous SMN1 exons 1–6 deletion: Pitfalls in genetic counseling and general recommendations for spinal muscular atrophy molecular diagnosis

C. Thauvin-Robinet, S. Drunat, P. Saugier Veber, D. Chantereau, M. Cossée, C. Cassini, P. Soichot, A. Masurel-Paulet, J.V. De Monléon, P. Sagot, F. Huet, M. Antin, N. Calmels, L. Faivre, B. Gérard, le

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 297 KB

english, 2012

71

Aging embrittlement and grain boundary

G. Thauvin, G. Lorang, C. Leymonie

Journal:

Metallurgical and Materials Transactions A

Year:

1992

Language:

english

File:

PDF, 555 KB

english, 1992

72

OFD1 Is Mutated in X-Linked Joubert Syndrome and Interacts with LCA5-Encoded Lebercilin

Karlien L.M. Coene, Ronald Roepman, Dan Doherty, Bushra Afroze, Hester Y. Kroes, Stef J.F. Letteboer, Lock H. Ngu, Bartlomiej Budny, Erwin van Wijk, Nicholas T. Gorden, Malika Azhimi, Christel Thauvin

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 2.74 MB

english, 2009

73

A Major Determinant for Binding and Aminoacylation of tRNAAla in Cytoplasmic Alanyl-tRNA Synthetase Is Mutated in Dominant Axonal Charcot-Marie-Tooth Disease

Philippe Latour, Christel Thauvin-Robinet, Chantal Baudelet-Méry, Pierre Soichot, Veronica Cusin, Laurence Faivre, Marie-Claire Locatelli, Martine Mayençon, Annie Sarcey, Emmanuel Broussolle, William

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 510 KB

english, 2010

74

Psychiatric disorders among patients admitted to a French medical emergency service

Veronique Saliou, Anika Fichelle, Mary McLoughlin, Isabelle Thauvin, Michel Lejoyeux

Journal:

General Hospital Psychiatry

Year:

2005

Language:

english

File:

PDF, 109 KB

english, 2005

75

A short time-step point rainfall stochastic model

V. Thauvin, E. Gaume, C. Roux

Journal:

Water Science and Technology

Year:

1998

Language:

english

File:

PDF, 757 KB

english, 1998

76

Failure to detect evidence of human immunodeficiency virus type 1 (HIV- 1) infection by polymerase chain reaction assay in blood donors with isolated core antibodies (anti-p24 or -p17) to HIV-1

M. Mariotti, P. Rouger, M. Thauvin, C. Salmon, J.J. Lefrere

Journal:

Transfusion (Wiley)

Year:

1990

Language:

english

File:

PDF, 490 KB

english, 1990

77

Albumin batches and B19 parvovirus DNA

J. J. Lefrère, M. Mariotti, I. de la Croix, J. Lerable, M. Thauvin, T. Burnouf, G. Folléa

Journal:

Transfusion (Wiley)

Year:

1995

Language:

english

File:

PDF, 255 KB

english, 1995

78

Infection by hepatitis C virus through contaminated intravenous immune globulin: results of a prospective national inquiry in France

J.J. Lefrere, P. Loiseau, M. Martinot-Peignoux, M. Mariotti, N. Ravera, M. Thauvin, P. Marcellin, C. Janot

Journal:

Transfusion (Wiley)

Year:

1996

Language:

english

File:

PDF, 440 KB

english, 1996

79

Infantile systemic hyalinosis: a case with atypical prolonged survival

C Thauvin-Robinet, L Faivre, F Beer, E Justrabo, A Nivelon-Chevallier, F Huet

Journal:

Acta Paediatrica

Year:

2001

Language:

english

File:

PDF, 235 KB

english, 2001

80

What can we learn from old microdeletion syndromes using array-CGH screening?

A L Mosca-Boidron, S Bouquillon, L Faivre, P Callier, J Andrieux, N Marle, C Bonnet, C Vincent-Delorme, M Berri, G Plessis, S Manouvrier-Hanu, A Dieux-Coeslier, C Thauvin-Robinet, E Pipiras, A Delahay

Journal:

Clinical Genetics

Year:

2012

Language:

english

File:

PDF, 582 KB

english, 2012

81

Influence of deformation on the β→α+β transformation kinetics of Ti-6wt.%Al-4wt.%V alloy

C. Loier, G. Thauvin, A. Hazotte, A. Simon

Journal:

Journal of the Less Common Metals

Year:

1985

Language:

english

File:

PDF, 3.40 MB

english, 1985

82

Les tests génétiques présymptomatiques chez le mineur : enquête auprès des généticiens français et position du groupe français de génétique prédictive

L. Joly, C. Thauvin-Robinet, F. Huet, J.-M. Pinoit, A. Contrain, C. Cassini, F. Coron, E. Gautier, B. Bonin, M. Gargiulo, D. Heron, A. Dürr, L. Faivre

Journal:

Archives de Pédiatrie

Year:

2010

File:

PDF, 229 KB

2010

83

Another observation with VATER association and a complex IV respiratory chain deficiency

Christel Thauvin-Robinet, Laurence Faivre, Frédéric Huet, Pierre Journeau, Christophe Glorion, Pierre Rustin, Agnès Rötig, Arnold Munnich, Valérie Cormier-Daire

Journal:

European Journal of Medical Genetics

Year:

2006

Language:

english

File:

PDF, 107 KB

english, 2006

84

A new case of megalencephaly and perisylvian polymicrogyria with post-axial polydactyly and hydrocephalus: MPPH syndrome

Marina Colombani, Mondher Chouchane, Gaelle Pitelet, Laure Morales, Patrick Callier, Jean-Pierre Pinard, Laurence Lion-François, Christel Thauvin-Robinet, Francine Mugneret, Frédéric Huet, Laurent Gui

Journal:

European Journal of Medical Genetics

Year:

2006

Language:

english

File:

PDF, 525 KB

english, 2006

85

Polymicrogyria, cerebellar vermis hypoplasia, severe facial dysmorphism and cleft palate: a new syndrome?

Anne-Laure Mosca, Nicole Laurent, Laurent Guibaud, Patrick Callier, Christel Thauvin-Robinet, Francine Mugneret, Frédéric Huet, Marianne Grimaldi, Jean-Bernard Gouyon, Dominique Sandre, Laurence Faivr

Journal:

European Journal of Medical Genetics

Year:

2007

Language:

english

File:

PDF, 764 KB

english, 2007

86

Untreated growth hormone deficiency with extremely short stature, bone dysplasia, cleft lip–palate and severe mental retardation in a 26-year-old man with a de novo unbalanced translocation t(1;12)(q24;q24)

P. Callier, L. Faivre, N. Marle, C. Thauvin-Robinet, A.L. Mosca, A. Masurel-Paulet, J. Borgnon, S. Falcon-Eicher, A. Danino, G. Malka, M. Le Merrer, F. Huet, F. Mugneret

Journal:

European Journal of Medical Genetics

Year:

2007

Language:

english

File:

PDF, 665 KB

english, 2007

87

Spondylocostal dysostosis, anal and genitourinary malformations in a fetal case: A new case of Casamassima–Morton–Nance syndrome?

Christel Thauvin-Robinet, Nicole Laurent, Thierry Rousseau, Stéphanie Couvreur, Véronica Cusin, Patrick Callier, Francine Mugneret, Christine Durand, Frédéric Huet, Paul Sagot, Laurence Faivre

Journal:

European Journal of Medical Genetics

Year:

2007

Language:

english

File:

PDF, 289 KB

english, 2007

88

Tubulopathy and pancytopaenia with normal pancreatic function: A variant of Pearson syndrome

Agnès Atale, Patrizia Bonneau-Amati, Agnès Rötig, Alain Fischer, Stéphanie Perez-Martin, Pascale de Lonlay, Patrick Niaudet, L. De Parscau, C. Mousson, C. Thauvin-Robinet, A. Munnich, F. Huet, L. Faiv

Journal:

European Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 116 KB

english, 2009

89

De novo 15q21.1q21.2 deletion identified through FBN1 MLPA and refined by 244K array-CGH in a female teenager with incomplete Marfan syndrome

Laurence Faivre, Philippe Khau Van Kien, Patrick Callier, Nathalie Ruiz-Pallares, Corinne Baudoin, Aurélie Plancke, Jean-Eric Wolf, Christel Thauvin-Robinet, Edith Durand, Delphine Minot, Véronique Du

Journal:

European Journal of Medical Genetics

Year:

2010

Language:

english

File:

PDF, 614 KB

english, 2010

90

Lung disease associated with periventricular nodular heterotopia and an FLNA mutation

Alice Masurel-Paulet, Eric Haan, Elizabeth M. Thompson, Cyril Goizet, Christel Thauvin-Robinet, Andrew Tai, Declan Kennedy, Greg Smith, Teck Yee Khong, Guilhem Solé, Elodie Guerineau, Isabelle Coupry,

Journal:

European Journal of Medical Genetics

Year:

2011

Language:

english

File:

PDF, 378 KB

english, 2011

91

Written information to patients in clinical genetics: What’s the impact?

C. Cassini, C. Thauvin-Robinet, S. Vinault, C. Binquet, F. Coron, A. Masurel-Paulet, C. Bonithon-Kopp, S. Mercier, L. Joly, F. Huet, L. Faivre

Journal:

European Journal of Medical Genetics

Year:

2011

Language:

english

File:

PDF, 215 KB

english, 2011

92

Impact des variations de distribution de l’âge maternel sur la prévalence attendue à la naissance de la trisomie 21 en France métropolitaine entre 1965 et 2008

T. Rousseau, C. Ferdynus, C. Thauvin-Robinet, J.-B. Gouyon, P. Sagot

Journal:

Journal de Gynécologie Obstétrique et Biologie de la Reproduction

Year:

2010

Language:

french

File:

PDF, 620 KB

french, 2010

93

Variations de prévalence de la trisomie 21 en population française entre 1978 et 2005

T. Rousseau, E. Amar, C. Ferdynus, C. Thauvin-Robinet, J.-B. Gouyon, P. Sagot

Journal:

Journal de Gynécologie Obstétrique et Biologie de la Reproduction

Year:

2010

Language:

french

File:

PDF, 599 KB

french, 2010

94

P1 Gastro-entérologie- Nutrition Acidose lactique severe deficit en thiamine secondaire a une alimentation parenterale exclusive non supplementee

C. Thauvin-Robinet, M.L. Barbier, L. Faivre, D. Geneviève, L. Chevret, J. Bourgeois, J.C. Netter, H. Ogier de Baulny, J.M. Saudubray, J.B. Gouyon

Journal:

Archives de Pédiatrie

Year:

2003

File:

PDF, 175 KB

2003

95

Measurement of nasal potential difference in young children with an equivocal sweat test following newborn screening for cystic fibrosis

Sermet-Gaudelus, I., Girodon, E., Roussel, D., Deneuville, E., Bui, S., Huet, F., Guillot, M., Aboutaam, R., Renouil, M., Munck, A., des Georges, M., Iron, A., Thauvin-Robinet, C., Fajac, I., Lenoir,

Journal:

Year:

2010

Language:

english

File:

PDF, 177 KB

english, 2010

96

Unique survival in chrondrodysplasia-hermaphrodism syndrome

Christel Thauvin-Robinet, Francine Mugneret, Patrick Callier, Mondher Chouchane, Emmanuel Garron, Eric Manceau, Nicole Laurent, Christine Durand, Annie Nivelon-Chevallier, Emmanuel Sapin, Frédéric Hue

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 201 KB

english, 2005

97

Long-term persistence of hepatitis G virus in immunocompetent patients

JJ Lefrere, M Mariotti, J Lerable, M Thauvin, R Girot

Journal:

Year:

1996

Language:

english

File:

PDF, 30 KB

english, 1996

98

B19 parvovirus DNA in solvent/detergent-treated anti-haemophilia concentrates

J-J. Lefrère, M. Mariotti, M. Thauvin

Journal:

Year:

1994

Language:

english

File:

PDF, 282 KB

english, 1994

99

A French collaborative study indicative of a very low classical-CF penetrance of R117H; implications for genetic counselling

C. Thauvin-Robinet, A. Munck, F. Huet, G. Bellis, E. Gautier, C. Férec, M. Audrézet, M. Claustres, M. DesGeorges, G. Lalau, T. Bienvenu, E. Bieth, B. Gerard, I. Sermet, G. Rault, J. Flori, J. Lafitte,

Journal:

Journal of Cystic Fibrosis

Year:

2008

Language:

english

File:

PDF, 58 KB

english, 2008

100

In-Frame Mutations in Exon 1 of SKI Cause Dominant Shprintzen-Goldberg Syndrome

Virginie Carmignac, Julien Thevenon, Lesley Adès, Bert Callewaert, Sophie Julia, Christel Thauvin-Robinet, Lucie Gueneau, Jean-Benoit Courcet, Estelle Lopez, Katherine Holman, Marjolijn Renard, Henri

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 888 KB

english, 2012