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51

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

52

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

53

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

54

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

55

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

56

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

57

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

58

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

59

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

60

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

61

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

62

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

63

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

64

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

65

Severe Prenatal Renal Anomalies Associated with Mutations in HNF1B or PAX2 Genes

Madariaga, L., Moriniere, V., Jeanpierre, C., Bouvier, R., Loget, P., Martinovic, J., Dechelotte, P., Leporrier, N., Thauvin-Robinet, C., Jensen, U. B., Gaillard, D., Mathieu, M., Turlin, B., Attie-Bi

Journal:

Clinical Journal of the American Society of Nephrology

Year:

2013

Language:

english

File:

PDF, 717 KB

english, 2013

66

C5orf42is the major gene responsible for OFD syndrome type VI

Lopez, Estelle, Thauvin-Robinet, Christel, Reversade, Bruno, Khartoufi, Nadia El, Devisme, Louise, Holder, Muriel, Ansart-Franquet, Hélène, Avila, Magali, Lacombe, Didier, Kleinfinger, Pascale, Kaori,

Journal:

Year:

2014

Language:

english

File:

PDF, 782 KB

english, 2014

67

Delineation of a new chromosome 20q11.2 duplication syndrome including the ASXL1 gene

Avila, Magali, Kirchhoff, Maria, Marle, Nathalie, Hove, Hanna D., Chouchane, Mondher, Thauvin-Robinet, Christel, Masurel, Alice, Mosca-Boidron, Anne-Laure, Callier, Patrick, Mugneret, Francine, Kjaerg

Journal:

American Journal of Medical Genetics Part A

Year:

2013

Language:

english

File:

PDF, 2.64 MB

english, 2013

68

Neuropsychological and neuroimaging phenotype induced by a CAMTA1 mutation

Magnin, Eloi, Blagosklonov, Oleg, Sylvestre, Geraldine, Minot, Delphine, Thevenon, Julien, Faivre, Laurence, Boulahdour, Hatem, Thauvin-Robinet, Christel, Rumbach, Lucien

Journal:

Brain and Development

Year:

2014

Language:

english

File:

PDF, 406 KB

english, 2014

69

PIK3R1 Mutations Cause Syndromic Insulin Resistance with Lipoatrophy

Thauvin-Robinet, Christel, Auclair, Martine, Duplomb, Laurence, Caron-Debarle, Martine, Avila, Magali, St-Onge, Judith, Le Merrer, Martine, Le Luyer, Bernard, Héron, Delphine, Mathieu-Dramard, Michèle

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 799 KB

english, 2013

70

Craniosynostosis, anal anomalies, and porokeratosis (CDAGS syndrome): Case report and literature review

Chouery, Eliane, Guissart, Claire, Mégarbané, Hala, Aral, Bernard, Nassif, Charbel, Thauvin-Robinet, Christel, Faivre, Laurence, Mégarbané, André

Journal:

European Journal of Medical Genetics

Year:

2013

Language:

english

File:

PDF, 687 KB

english, 2013

71

Troubles du métabolisme des cobalamines chez l’adulte

Thauvin-Robinet, C., Roze, E.

Journal:

Revue Neurologique

Year:

2007

Language:

french

File:

PDF, 197 KB

french, 2007

72

Insulino-résistance extrême et lipoatrophie généralisée révélant une mutation de PIK3KR1 associée au syndrome SHORT

Thauvin-Robinet, C., Reznik, Y., Auclair, M., Lascols, O., Capeau, J., Caron-Debarle, M., Vigouroux, C., Riviere, J.B.

Journal:

Annales d'Endocrinologie

Year:

2013

Language:

french

File:

PDF, 213 KB

french, 2013

73

Expanding the clinical phenotype of patients with a ZDHHC9 mutation

Masurel-Paulet, Alice, Kalscheuer, Vera M., Lebrun, Nicolas, Hu, Hao, Levy, Fabienne, Thauvin-Robinet, Christel, Darmency-Stamboul, Véronique, El Chehadeh, Salima, Thevenon, Julien, Chancenotte, Sophi

Journal:

American Journal of Medical Genetics Part A

Year:

2014

Language:

english

File:

PDF, 573 KB

english, 2014

74

CFTR p.Arg117His associated with CBAVD and other CFTR-related disorders

Thauvin-Robinet, C., Munck, A., Huet, F., de Becdelievre, A., Jimenez, C., Lalau, G., Gautier, E., Rollet, J., Flori, J., Nove-Josserand, R., Soufir, J.-C., Haloun, A., Hubert, D., Houssin, E., Bellis

Journal:

Journal of Medical Genetics

Year:

2013

Language:

english

File:

PDF, 187 KB

english, 2013

75

Bladder exstrophy–epispadias complex: Investigation of suppressor of variegation, enhancer of zeste and Trithorax ( SET ) as a candidate gene in a large cohort of patients

Reutter, Heiko, Thauvin-Robinet, Christel, Boemers, Thomas, Rösch, Wolfgang, Ludwig, Michael

Journal:

Scandinavian Journal of Urology and Nephrology

Year:

2006

Language:

english

File:

PDF, 66 KB

english, 2006

76

The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation

Thauvin-Robinet, Christel, Lee, Jaclyn S, Lopez, Estelle, Herranz-Pérez, Vicente, Shida, Toshinobu, Franco, Brunella, Jego, Laurence, Ye, Fan, Pasquier, Laurent, Loget, Philippe, Gigot, Nadège, Aral,

Journal:

Nature Genetics

Year:

2014

Language:

english

File:

PDF, 1.69 MB

english, 2014

77

A de novo nonsense PDGFB mutation causing idiopathic basal ganglia calcification with laryngeal dystonia

Nicolas, Gaël, Jacquin, Agnès, Thauvin-Robinet, Christel, Rovelet-Lecrux, Anne, Rouaud, Olivier, Pottier, Cyril, Aubriot-Lorton, Marie-Hélène, Rousseau, Stéphane, Wallon, David, Duvillard, Christian,

Journal:

European Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 513 KB

english, 2014

78

Angelman Syndrome: A Case Series Assessing Neurological Issues in Adulthood

Giroud, Marie, Daubail, Benoît, Khayat, Norbert, Chouchane, Mondher, Berger, Eric, Muzard, Emelyne, Medeiros de Bustos, Elisabeth, Thauvin-Robinet, Christel, Faivre, Laurence, Masurel, Alice, Darmency

Journal:

European Neurology

Year:

2015

Language:

english

File:

PDF, 968 KB

english, 2015

79

Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development

Benko, S., Gordon, C. T., Mallet, D., Sreenivasan, R., Thauvin-Robinet, C., Brendehaug, A., Thomas, S., Bruland, O., David, M., Nicolino, M., Labalme, A., Sanlaville, D., Callier, P., Malan, V., Huet,

Journal:

Journal of Medical Genetics

Year:

2011

Language:

english

File:

PDF, 209 KB

english, 2011

80

Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study

Thauvin-Robinet, C

Journal:

Journal of Medical Genetics

Year:

2005

Language:

english

File:

PDF, 210 KB

english, 2005

81

Association of Marfan's Syndrome and Turner's Syndrome

Thauvin-Robinet, C., De Monleon, J.V., Nivelon-Chevallier, A., Petit, A., Huet, F.

Journal:

Journal of Pediatric Endocrinology and Metabolism

Year:

2001

Language:

english

File:

PDF, 872 KB

english, 2001

82

Homozygosity mapping of a Dyggve-Melchior-Clausen syndrome gene to chromosome 18q21.1

Thauvin-Robinet, C

Journal:

Journal of Medical Genetics

Year:

2002

Language:

english

File:

PDF, 471 KB

english, 2002

83

Germline correction of an epimutation related to Silver-Russell syndrome

Bruno, C., Carmignac, V., Netchine, I., Choux, C., Duffourd, Y., Faivre, L., Thauvin-Robinet, C., Le Bouc, Y., Sagot, P., Bourc'his, D., Fauque, P.

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 285 KB

english, 2015

84

NOTCH, a new signaling pathway implicated in holoprosencephaly

Dupe, V., Rochard, L., Mercier, S., Le Petillon, Y., Gicquel, I., Bendavid, C., Bourrouillou, G., Kini, U., Thauvin-Robinet, C., Bohan, T. P., Odent, S., Dubourg, C., David, V.

Journal:

Human Molecular Genetics

Year:

2011

Language:

english

File:

PDF, 364 KB

english, 2011

85

Phenotypic spectrum and incidence of TRPV4 mutations in patients with inherited axonal neuropathy

Echaniz-Laguna, A., Dubourg, O., Carlier, P., Carlier, R.-Y., Sabouraud, P., Pereon, Y., Chapon, F., Thauvin-Robinet, C., Laforet, P., Eymard, B., Latour, P., Stojkovic, T.

Journal:

Year:

2014

Language:

english

File:

PDF, 525 KB

english, 2014

86

3q27.3 microdeletional syndrome: a recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psychosis with mood disorder

Thevenon, J., Callier, P., Poquet, H., Bache, I., Menten, B., Malan, V., Cavaliere, M. L., Girod, J.-P., Thauvin-Robinet, C., El Chehadeh, S., Pinoit, J.-M., Huet, F., Verges, B., Petit, J.-M., Mosca-

Journal:

Journal of Medical Genetics

Year:

2014

Language:

english

File:

PDF, 4.93 MB

english, 2014

87

The adolescent and adult form of cobalamin C disease: clinical and molecular spectrum

Thauvin-Robinet, C, Roze, E, Couvreur, G, Horellou, M-H, Sedel, F, Grabli, D, Bruneteau, G, Tonneti, C, Masurel-Paulet, A, Perennou, D, Moreau, T, Giroud, M, de Baulny, H O., Giraudier, S, Faivre, L

Journal:

Journal of Neurology Neurosurgery & Psychiatry

Year:

2007

Language:

english

File:

PDF, 331 KB

english, 2007

88

Newborn screening programmes including genetic analyses: limits and risks of negative consequences?

Thauvin-Robinet, C., Munck, A., Roussey, M., Huet, F., Binquet, C., Girodon, E.

Journal:

Journal of Epidemiology & Community Health

Year:

2010

Language:

english

File:

PDF, 51 KB

english, 2010

89

Search for the best indicators for the presence of a VPS13B gene mutation and confirmation of diagnostic criteria in a series of 34 patients genotyped for suspected Cohen syndrome

El Chehadeh, S., Aral, B., Gigot, N., Thauvin-Robinet, C., Donzel, A., Delrue, M.-A., Lacombe, D., David, A., Burglen, L., Philip, N., Moncla, A., Cormier-Daire, V., Rio, M., Edery, P., Verloes, A., B

Journal:

Journal of Medical Genetics

Year:

2010

Language:

english

File:

PDF, 103 KB

english, 2010

90

The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screening

Thauvin-Robinet, C, Munck, A, Huet, F, Genin, E, Bellis, G, Gautier, E, Audrezet, M-P, Ferec, C, Lalau, G, Georges, M D., Claustres, M, Bienvenu, T, Gerard, B, Boisseau, P, Cabet-Bey, F, Feldmann, D,

Journal:

Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 392 KB

english, 2009

91

Loss of Function Mutation in the Palmitoyl-Transferase HHAT Leads to Syndromic 46,XY Disorder of Sex Development by Impeding Hedgehog Protein Palmitoylation and Signaling

Callier, Patrick, Calvel, Pierre, Matevossian, Armine, Makrythanasis, Periklis, Bernard, Pascal, Kurosaka, Hiroshi, Vannier, Anne, Thauvin-Robinet, Christel, Borel, Christelle, Mazaud-Guittot, Séverin

Journal:

Year:

2014

Language:

english

File:

PDF, 8.92 MB

english, 2014

92

WS11.6 Newborn screening for cystic fibrosis: Rationale for p.Arg117His (R117H) removal from the CFTR mutation panel in France

Munck, A., Audrézet, M.-P., Thauvin-Robinet, C., Cheillan, D., Delmas, D., Girodon, E., Roussey, M.

Journal:

Journal of Cystic Fibrosis

Year:

2015

Language:

english

File:

PDF, 65 KB

english, 2015

93

9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping

Nambot, Sophie, Masurel, Alice, El Chehadeh, Salima, Mosca-Boidron, Anne-Laure, Thauvin-Robinet, Christel, Lefebvre, Mathilde, Marle, Nathalie, Thevenon, Julien, Perez-Martin, Stéphanie, Dulieu, Véron

Journal:

European Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 745 KB

english, 2015

94

Heterozygous deletion of the LRFN2 gene is associated with working memory deficits

Thevenon, Julien, Souchay, Céline, Seabold, Gail K, Dygai-Cochet, Inna, Callier, Patrick, Gay, Sébastien, Corbin, Lucie, Duplomb, Laurence, Thauvin-Robinet, Christel, Masurel-Paulet, Alice, El Chehade

Journal:

European Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 1.76 MB

english, 2015

95

Update on oral-facial-digital syndromes (OFDS)

Franco, Brunella, Thauvin-Robinet, Christel

Journal:

Year:

2015

Language:

english

File:

PDF, 946 KB

english, 2015

96

New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay

Pilliod, Julie, Moutton, Sébastien, Lavie, Julie, Maurat, Elise, Hubert, Christophe, Bellance, Nadège, Anheim, Mathieu, Forlani, Sylvie, Mochel, Fanny, N'Guyen, Karine, Thauvin-Robinet, Christel, Vern

Journal:

Annals of Neurology

Year:

2015

Language:

english

File:

PDF, 872 KB

english, 2015

97

Genetic counselling difficulties and ethical implications of incidental findings from array-CGH: a 7-year national survey

Lefebvre, M., Sanlaville, D., Marle, N., Thauvin-Robinet, C., Gautier, E., Chehadeh, S.E., Mosca-Boidron, A.-L., Thevenon, J., Edery, P., Alex-Cordier, M.-P., Till, M., Lyonnet, S., Cormier-Daire, V.,

Journal:

Clinical Genetics

Year:

2016

File:

PDF, 135 KB

2016

98

Clinical spectrum of eye malformations in four patients with Mowat-Wilson syndrome

Bourchany, A., Giurgea, I., Thevenon, J., Goldenberg, A., Morin, G., Bremond-Gignac, D., Paillot, C., Lafontaine, P. O., Thouvenin, D., Massy, J., Duncombe, A., Thauvin-Robinet, C., Masurel-Paulet, A.

Journal:

American Journal of Medical Genetics Part A

Year:

2015

Language:

english

File:

PDF, 1.12 MB

english, 2015

99

A new family with an SLC9A6 mutation expanding the phenotypic spectrum of Christianson syndrome

Masurel-Paulet, Alice, Piton, Amélie, Chancenotte, Sophie, Redin, Claire, Thauvin-Robinet, Christel, Henrenger, Yvan, Minot, Delphine, Creppy, Audrey, Ruffier-Bourdet, Marie, Thevenon, Julien, Kuentz,

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 947 KB

english, 2016

100

Newborn screening programmes including genetic analyses: limits and risks of negative consequences?

Christel Thauvin-Robinet, Anne Munck, Michel Roussey, Frédéric Huet, Christine Binquet and Emmanuelle Girodon

Journal:

Journal of Epidemiology & Community Health

Year:

2010

Language:

english

File:

PDF, 438 KB

english, 2010