Works matching IS 16618769 AND DT 2010 AND VI 1 AND IP 2

Results: 7

IRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS Sign.

Published in:

Molecular Syndromology, 2010, v. 1, n. 2, p. 67, doi. 10.1159/000313786

By:

Desmyter, L.;
Ghassibe, M.;
Revencu, N.;
Boute, O.;
Lees, M.;
François, G.;
Verellen-Dumoulin, C.;
Sznajer, Y.;
Moncla, A.;
Benateau, H.;
Claes, K.;
Devriendt, K.;
Mathieu, M.;
Van Maldergem, L.;
Addor, M.-C.;
Drouin-Garraud, V.;
Mortier, G.;
Bouma, M.;
Dieux-Coeslier, A.;
Genevieve, D.

Publication type:

Article

A Hypomorphic Allele in the FGF8 Gene Contributes to Holoprosencephaly and Is Allelic to Gonadotropin-Releasing Hormone Deficiency in Humans.

Published in:

Molecular Syndromology, 2010, v. 1, n. 2, p. 59, doi. 10.1159/000302285

By:

Arauz, R.F.;
Solomon, B.D.;
Pineda-Alvarez, D.E.;
Gropman, A.L.;
Parsons, J.A.;
Roessler, E.;
Muenke, M.

Publication type:

Article

Interstitial Deletions at 6q14.1-q15 Associated with Obesity, Developmental Delay and a Distinct Clinical Phenotype.

Published in:

Molecular Syndromology, 2010, v. 1, n. 2, p. 75, doi. 10.1159/000314025

By:

Wentzel, C.;
Lynch, S.A.;
Stattin, E.-L.;
Sharkey, F.H.;
Annerén, G.;
Thuresson, A.-C.

Publication type:

Article

Persistent Fetal Vasculature and Severe Protein C Deficiency.

Published in:

Molecular Syndromology, 2010, v. 1, n. 2, p. 82, doi. 10.1159/000302372

By:

Douglas, A.G.L.;
Rafferty, H.;
Hodgkins, P.;
Nagra, A.;
Foulds, N.C.;
Morgan, M.;
Temple, I.K.

Publication type:

Article

Identical Mutation in SH3BP2 Gene Causes Clinical Phenotypes with Different Severity in Mother and Daughter - Case Report.

Published in:

Molecular Syndromology, 2010, v. 1, n. 2, p. 87, doi. 10.1159/000314268

By:

Preda, L.;
Dinca, O.;
Bucur, A.;
Dragomir, C.;
Severin, E.

Publication type:

Article

Juvenile Muscular Atrophy of a Unilateral Upper Extremity (Hirayama Disease) in a Patient with CHARGE Syndrome.

Published in:

Molecular Syndromology, 2010, v. 1, n. 2, p. 91, doi. 10.1159/000315525

By:

Yagihashi, T.;
Hatori, K.;
Ishii, K.;
Torii, C.;
Momoshima, S.;
Takahashi, T.;
Kosaki, K.

Publication type:

Article

Cri-du-Chat Syndrome Cytogenetically Cryptic Recombination Aneusomy of Chromosome 5: Implications in Recurrence Risk Estimation.

Published in:

Molecular Syndromology, 2010, v. 1, n. 2, p. 95, doi. 10.1159/000319321

By:

Ohnuki, Y.;
Torii, C.;
Kosaki, R.;
Yagihashi, T.;
Sago, H.;
Hayashi, K.;
Yasukawa, K.;
Takahashi, T.;
Kosaki, K.

Publication type:

Article