Works matching IS 00099163 AND DT 2016 AND VI 89 AND IP 5

Results: 19

A non-sense MCM9 mutation in a familial case of primary ovarian insufficiency.

Published in:

Clinical Genetics, 2016, v. 89, n. 5, p. 603, doi. 10.1111/cge.12736

By:

Fauchereau, F.;
Shalev, S.;
Chervinsky, E.;
Beck‐Fruchter, R.;
Legois, B.;
Fellous, M.;
Caburet, S.;
Veitia, R.A.

Publication type:

Article

Wide allelic heterogeneity with predominance of large IDS gene complex rearrangements in a sample of Mexican patients with Hunter syndrome.

Published in:

Clinical Genetics, 2016, v. 89, n. 5, p. 574, doi. 10.1111/cge.12738

By:

Alcántara‐Ortigoza, M.A.;
García‐de Teresa, B.;
González‐del Angel, A.;
Berumen, J.;
Guardado‐Estrada, M.;
Fernández‐Hernández, L.;
Navarrete‐Martínez, J.I.;
Maza‐Morales, M.;
Rius‐Domínguez, R.

Publication type:

Article

Clinical implementation of NIPT - technical and biological challenges.

Published in:

Clinical Genetics, 2016, v. 89, n. 5, p. 523, doi. 10.1111/cge.12598

By:

Brady, P.;
Brison, N.;
Van Den Bogaert, K.;
de Ravel, T.;
Peeters, H.;
Van Esch, H.;
Devriendt, K.;
Legius, E.;
Vermeesch, J.R.

Publication type:

Article

Issue Information - Editorial Board.

Published in:: Clinical Genetics, 2016, v. 89, n. 5, p. 521, doi. 10.1111/cge.12663
Publication type:: Article

NOBOX is a strong autosomal candidate gene in Tunisian patients with primary ovarian insufficiency.

Published in:

Clinical Genetics, 2016, v. 89, n. 5, p. 608, doi. 10.1111/cge.12750

By:

Bouali, N.;
Francou, B.;
Bouligand, J.;
Lakhal, B.;
Malek, I.;
Kammoun, M.;
Warszawski, J.;
Mougou, S.;
Saad, A.;
Guiochon‐Mantel, A.

Publication type:

Article

Mutations in WNT9B are associated with Mayer-Rokitansky-Küster-Hauser syndrome.

Published in:

Clinical Genetics, 2016, v. 89, n. 5, p. 590, doi. 10.1111/cge.12701

By:

Waschk, D.E.J.;
Tewes, A.‐C.;
Römer, T.;
Hucke, J.;
Kapczuk, K.;
Schippert, C.;
Hillemanns, P.;
Wieacker, P.;
Ledig, S.

Publication type:

Article

Risk assessment of medically assisted reproduction and advanced maternal ages in the development of Prader-Willi syndrome due to UPD(15)mat.

Published in:

Clinical Genetics, 2016, v. 89, n. 5, p. 614, doi. 10.1111/cge.12691

By:

Matsubara, K.;
Murakami, N.;
Fukami, M.;
Kagami, M.;
Nagai, T.;
Ogata, T.

Publication type:

Article

Early growth and development impairments in patients with ganglioside GM3 synthase deficiency.

Published in:

Clinical Genetics, 2016, v. 89, n. 5, p. 625, doi. 10.1111/cge.12703

By:

Wang, H.;
Wang, A.;
Wang, D.;
Bright, A.;
Sency, V.;
Zhou, A.;
Xin, B.

Publication type:

Article

Genomic futures of prenatal screening: ethical reflection.

Published in:

Clinical Genetics, 2016, v. 89, n. 5, p. 531, doi. 10.1111/cge.12640

By:

Dondorp, W.J.;
Page‐Christiaens, G.C.M.L.;
Wert, G.M.W.R

Publication type:

Article

Refining the continuum of CFTR-associated disorders in the era of newborn screening.

Published in:

Clinical Genetics, 2016, v. 89, n. 5, p. 539, doi. 10.1111/cge.12711

By:

Levy, H.;
Nugent, M.;
Schneck, K.;
Stachiw‐Hietpas, D.;
Laxova, A.;
Lakser, O.;
Rock, M.;
Dahmer, M.K.;
Biller, J.;
Nasr, S.Z.;
Baker, M.;
McColley, S.A.;
Simpson, P.;
Farrell, P.M.

Publication type:

Article

Corrigendum.

Published in:: Clinical Genetics, 2016, v. 89, n. 5, p. 636, doi. 10.1111/cge.12770
Publication type:: Article

Decision-making for non-invasive prenatal testing for Down syndrome: Hong Kong Chinese women's preferences for individual vs relational autonomy.

Published in:

Clinical Genetics, 2016, v. 89, n. 5, p. 550, doi. 10.1111/cge.12743

By:

Lau, J.Y.C.;
Yi, H.;
Ahmed, S.

Publication type:

Article

Homozygous FIBP nonsense variant responsible of syndromic overgrowth, with overgrowth, macrocephaly, retinal coloboma and learning disabilities.

Published in:

Clinical Genetics, 2016, v. 89, n. 5, p. e1, doi. 10.1111/cge.12704

By:

Thauvin‐Robinet, C.;
Duplomb‐Jego, L.;
Limoge, F.;
Picot, D.;
Masurel, A.;
Terriat, B.;
Champilou, C.;
Minot, D.;
St‐Onge, J.;
Kuentz, P.;
Duffourd, Y.;
Thevenon, J.;
Rivière, J.‐B.;
Faivre, L.

Publication type:

Article

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

Published in:

Clinical Genetics, 2016, v. 89, n. 5, p. 630, doi. 10.1111/cge.12696

By:

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.;
Amiel, J.;
Philippe, A.;
Romana, S.;
Malan, V.;
Afenjar, A.;
Marlin, S.;
Chantot‐Bastaraud, S.

Publication type:

Article

A series of 38 novel germline and somatic mutations of NIPBL in Cornelia de Lange syndrome.

Published in:

Clinical Genetics, 2016, v. 89, n. 5, p. 584, doi. 10.1111/cge.12720

By:

Nizon, M.;
Henry, M.;
Michot, C.;
Baumann, C.;
Bazin, A.;
Bessières, B.;
Blesson, S.;
Cordier‐Alex, M.‐P.;
David, A.;
Delahaye‐Duriez, A.;
Delezoïde, A.‐L.;
Dieux‐Coeslier, A.;
Doco‐Fenzy, M.;
Faivre, L.;
Goldenberg, A.;
Layet, V.;
Loget, P.;
Marlin, S.;
Martinovic, J.;
Odent, S.

Publication type:

Article

First-trimester spontaneous pregnancy loss - molecular analysis using multiplex ligation-dependent probe amplification.

Published in:

Clinical Genetics, 2016, v. 89, n. 5, p. 620, doi. 10.1111/cge.12727

By:

Zimowski, J. G.;
Massalska, D.;
Pawelec, M.;
Bijok, J.;
Michałowska, A.;
Roszkowski, T.

Publication type:

Article

Recognition of the Cornelia de Lange syndrome phenotype with facial dysmorphology novel analysis.

Published in:

Clinical Genetics, 2016, v. 89, n. 5, p. 557, doi. 10.1111/cge.12716

By:

Basel‐Vanagaite, L.;
Wolf, L.;
Orin, M.;
Larizza, L.;
Gervasini, C.;
Krantz, I.D.;
Deardoff, M.A.

Publication type:

Article

Expanding the clinical spectrum of the ' HDAC8-phenotype' - implications for molecular diagnostics, counseling and risk prediction.

Published in:

Clinical Genetics, 2016, v. 89, n. 5, p. 564, doi. 10.1111/cge.12717

By:

Parenti, I.;
Gervasini, C.;
Pozojevic, J.;
Wendt, K.S.;
Watrin, E.;
Azzollini, J.;
Braunholz, D.;
Buiting, K.;
Cereda, A.;
Engels, H.;
Garavelli, L.;
Glazar, R.;
Graffmann, B.;
Larizza, L.;
Lüdecke, H.J.;
Mariani, M.;
Masciadri, M.;
Pié, J.;
Ramos, F.J.;
Russo, S.

Publication type:

Article

Association analysis between HFM1 variation and primary ovarian insufficiency in Chinese women.

Published in:

Clinical Genetics, 2016, v. 89, n. 5, p. 597, doi. 10.1111/cge.12718

By:

Pu, D.;
Wang, C.;
Cao, J.;
Shen, Y.;
Jiang, H.;
Liu, J.;
Wu, B.L.;
Zhang, W.;
Wu, J.

Publication type:

Article