Jacqueline, Vigneron: search on Z-Library

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1

Central nervous system malformations and early end-stage renal disease in oro-facio-digital syndrome type I: A review

Sylvie Odent, Bernard Le Marec, Annick Toutain, Albert David, Jacqueline Vigneron, Catherine Tréguier, Hélène Jouan, Joëlle Milon, Jean-Pierre Fryns, Alain Verloes

Journal:

American Journal of Medical Genetics Part A

Year:

1998

Language:

english

File:

PDF, 271 KB

english, 1998

2

Le passage à l'acte chez une personnalité limite : l'agir comme acte de parole

Vigneron, Frédérique, Beaureilles, Jacqueline, Trarieux, Marie

Journal:

L information psychiatrique

Year:

2006

Language:

french

File:

PDF, 504 KB

french, 2006

3

A novel TFAP2A mutation in familial Branchio-Oculo-Facial Syndrome with predominant ocular phenotype

Aliferis, Konstantinos, Stoetzel, Corinne, Pelletier, Valérie, Hellé, Sophie, Angioï-Duprez, Karine, Vigneron, Jacqueline, Leheup, Bruno, Marion, Vincent, Dollfus, Hélène

Journal:

Ophthalmic Genetics

Year:

2011

Language:

english

File:

PDF, 763 KB

english, 2011

4

Notable contribution of large CFTR gene rearrangements to the diagnosis of cystic fibrosis in fetuses with bowel anomalies

de Becdelièvre, Alix, Costa, Catherine, LeFloch, Annick, Legendre, Marie, Jouannic, Jean-Marie, Vigneron, Jacqueline, Bresson, Jean-Luc, Gobin, Stéphanie, Martin, Josiane, Goossens, Michel

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 238 KB

english, 2010

5

RUNX1T1, a chromatin repression protein, is a candidate gene for autosomal dominant intellectual disability

Minh Tuan Huynh, Mylène Béri-Dexheimer, Céline Bonnet, Myriam Bronner, Asma Ali Khan, Lila Allou, Christophe Philippe, Jacqueline Vigneron, Philippe Jonveaux

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 402 KB

english, 2012

6

Y-craniosynostosis by premature fusion of the metopic and coronal sutures: A new nosological entity or a variety of Saethre-Chotzen syndrome?

di Rocco, Federico, Benoit, Alexandra, Vigneron, Jacqueline, Segura, Pascale Bach, Klein, Olivier, Collet, Corinne, Arnaud, Eric

Journal:

Birth Defects Research Part A: Clinical and Molecular Teratology

Year:

2015

Language:

english

File:

PDF, 291 KB

english, 2015

7

Distal trisomy 14q

Simone Gilgenkrantz, Jacqueline Vigneron, Marie-Odile Peter, J. L. Dufier, M. Teboul, Michèle Chery, Genoveva Keyeux, Marie-Paule Lefranc

Journal:

Year:

1990

Language:

english

File:

PDF, 1.02 MB

english, 1990

8

La génétique clinique, entre fatalité, conseils, espoirs et questions

Vigneron, Jacqueline

Journal:

Vocation Sage-femme

Year:

2016

Language:

french

File:

PDF, 784 KB

french, 2016

9

Down syndrome with partial trisomy of chromosome 21 because of a de-novo unbalanced translocation t(13;21)(q10;q22)

Maciejewski, Emilie, Vigneron, Jacqueline, Lambert, Laetitia, Bonnet, Céline, Hascoët, Jean-Michel

Journal:

Clinical Dysmorphology

Year:

2012

Language:

english

File:

PDF, 289 KB

english, 2012

10

Increased Dosage of RAB39B Affects Neuronal Development and Could Explain the Cognitive Impairment in Male Patients with Distal Xq28 Copy Number Gains

Vanmarsenille, Lieselot, Giannandrea, Maila, Fieremans, Nathalie, Verbeeck, Jelle, Belet, Stefanie, Raynaud, Martine, Vogels, Annick, Männik, Katrin, Õunap, Katrin, Jacqueline, Vigneron, Briault, Sylv

Journal:

Year:

2014

Language:

english

File:

PDF, 872 KB

english, 2014

11

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

12

Large deletions encompassing the TCOF1 and CAMK2A genes are responsible for Treacher Collins syndrome with intellectual disability

Vincent, Marie, Collet, Corinne, Verloes, Alain, Lambert, Laetitia, Herlin, Christian, Blanchet, Catherine, Sanchez, Elodie, Drunat, Séverine, Vigneron, Jacqueline, Laplanche, Jean-Louis, Puechberty,

Journal:

European Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 793 KB

english, 2014

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