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Two new cases of interstitial 7q35q36.1 deletion including CNTNAP2 and KMT2C.
Published in:
Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 11, p. 1, doi. 10.1002/mgg3.1645
By:
- Tosca, Lucie;
- Drévillon, Loïc;
- Mouka, Aurélie;
- Lecerf, Laure;
- Briand, Audrey;
- Ortonne, Valérie;
- Benoit, Virginie;
- Brisset, Sophie;
- Van Maldergem, Lionel;
- Laudouar, Quitterie;
- Heide, Solveig;
- Goossens, Michel;
- Giurgea, Irina;
- Tachdjian, Gérard;
- Métay, Corinne
Publication type:
Article
Alu-mediated deletion of SOX10 regulatory elements in Waardenburg syndrome type 4.
Published in:
European Journal of Human Genetics, 2012, v. 20, n. 9, p. 990, doi. 10.1038/ejhg.2012.29
By:
- Bondurand, Nadége;
- Fouquet, Virginie;
- Baral, Viviane;
- Lecerf, Laure;
- Loundon, Natalie;
- Goossens, Michel;
- Duriez, Benedicte;
- Labrune, Philippe;
- Pingault, Veronique
Publication type:
Article
Recurrent 70.8 Mb 4q22.2q32.3 duplication due to ovarian germinal mosaicism.
Published in:
European Journal of Human Genetics, 2010, v. 18, n. 8, p. 882, doi. 10.1038/ejhg.2010.46
By:
- Tosca, Lucie;
- Brisset, Sophie;
- Petit, François M.;
- Lecerf, Laure;
- Rousseau, Ghislaine;
- Bas, Cécile;
- Laroudie, Mireille;
- Maurin, Marie-Laure;
- Tapia, Sylvie;
- Picone, Olivier;
- Prevot, Sophie;
- Goossens, Michel;
- Labrune, Philippe;
- Tachdjian, Gérard
Publication type:
Article
Subnuclear re-localization of SOX10 and p54NRB correlates with a unique neurological phenotype associated with SOX10 missense mutations.
Published in:
Human Molecular Genetics, 2015, v. 24, n. 17, p. 4933, doi. 10.1093/hmg/ddv215
By:
- Chaoui, Asma;
- Kavo, Anthula;
- Baral, Viviane;
- Watanabe, Yuli;
- Lecerf, Laure;
- Colley, Alison;
- Mendoza-Londono, Roberto;
- Pingault, Veronique;
- Bondurand, Nadege
Publication type:
Article
Lack of relationship between an insertion/deletion polymorphism in the angiotensin I-converting enzyme gene and diabetic nephropathy and proliferative retinopathy in IDDM patients.
Published in:
1995
By:
- Tarnow, Lise;
- Cambien, Francois;
- Rossing, Peter;
- Nielsen, Flemming S.;
- Hansen, Birgitte V.;
- Lecerf, Laure;
- Poirier, Odette;
- Danilov, Sergei;
- Parving, Hans-Henrik;
- Tarnow, L;
- Cambien, F;
- Rossing, P;
- Nielsen, F S;
- Hansen, B V;
- Lecerf, L;
- Poirier, O;
- Danilov, S;
- Parving, H H
Publication type:
journal article
EDNRB mutations cause Waardenburg syndrome type II in the heterozygous state.
Published in:
Human Mutation, 2017, v. 38, n. 5, p. 581, doi. 10.1002/humu.23206
By:
- Issa, Sarah;
- Bondurand, Nadege;
- Faubert, Emmanuelle;
- Poisson, Sylvain;
- Lecerf, Laure;
- Nitschke, Patrick;
- Deggouj, Naima;
- Loundon, Natalie;
- Jonard, Laurence;
- David, Albert;
- Sznajer, Yves;
- Blanchet, Patricia;
- Marlin, Sandrine;
- Pingault, Veronique
Publication type:
Article
An Impairment of Long Distance SOX10 Regulatory Elements Underlies Isolated Hirschsprung Disease.
Published in:
Human Mutation, 2014, v. 35, n. 3, p. 303, doi. 10.1002/humu.22499
By:
- Lecerf, Laure;
- Kavo, Anthula;
- Ruiz‐Ferrer, Macarena;
- Baral, Viviane;
- Watanabe, Yuli;
- Chaoui, Asma;
- Pingault, Veronique;
- Borrego, Salud;
- Bondurand, Nadege
Publication type:
Article

Found: 7

Two new cases of interstitial 7q35q36.1 deletion including CNTNAP2 and KMT2C.

Alu-mediated deletion of SOX10 regulatory elements in Waardenburg syndrome type 4.

Recurrent 70.8 Mb 4q22.2q32.3 duplication due to ovarian germinal mosaicism.

Subnuclear re-localization of SOX10 and p54NRB correlates with a unique neurological phenotype associated with SOX10 missense mutations.

Lack of relationship between an insertion/deletion polymorphism in the angiotensin I-converting enzyme gene and diabetic nephropathy and proliferative retinopathy in IDDM patients.

EDNRB mutations cause Waardenburg syndrome type II in the heterozygous state.

An Impairment of Long Distance SOX10 Regulatory Elements Underlies Isolated Hirschsprung Disease.