Works matching IS 00099163 AND DT 2014 AND VI 85 AND IP 5

Results: 18

Expanding the clinical spectrum and allelic heterogeneity in van den Ende-Gupta syndrome.

Published in:

Clinical Genetics, 2014, v. 85, n. 5, p. 492, doi. 10.1111/cge.12205

By:

Patel, N.;
Salih, M.A.;
Alshammari, M.J.;
Abdulwahhab, F.;
Adly, N.;
Alzahrani, F.;
Elgamal, E.A.;
Elkhashab, H.Y.;
Al‐Qattan, M.;
Alkuraya, F.S.

Publication type:

Article

APC promoter 1B deletion in familial polyposis-implications for mutation-negative families.

Published in:

Clinical Genetics, 2014, v. 85, n. 5, p. 452, doi. 10.1111/cge.12210

By:

Kadiyska, T.K.;
Todorov, T.P.;
Bichev, S.N.;
Vazharova, R.V.;
Nossikoff, A.V.;
Savov, A.S.;
Mitev, V.I.

Publication type:

Article

Two novel mutations in apolipoprotein C3 underlie atheroprotective lipid profiles in families.

Published in:

Clinical Genetics, 2014, v. 85, n. 5, p. 433, doi. 10.1111/cge.12201

By:

Bochem, A.E.;
van Capelleveen, J.C.;
Dallinga‐Thie, G.M.;
Schimmel, A.W.M.;
Motazacker, M.M.;
Tietjen, I.;
Singaraja, R.R.;
Hayden, M.R.;
Kastelein, J.J.P.;
Stroes, E.S.G.;
Hovingh, G.K.

Publication type:

Article

Severe combined immunodeficiency: first report of a de novo mutation in the IL2RG gene in a boy conceived by in vitro fertilization.

Published in:

Clinical Genetics, 2014, v. 85, n. 5, p. 500, doi. 10.1111/cge.12208

By:

Moya‐Quiles, M.R.;
Bernardo‐Pisa, M.V.;
Menasalvas, A.;
Alfayate, S.;
Fuster, J.L.;
Boix, F.;
Salgado, G.;
Muro, M.;
Minguela, A.;
Álvarez‐López, M.R.;
García‐Alonso, A.M.

Publication type:

Article

Informed consent for exome sequencing in diagnostics: exploring first experiences and views of professionals and patients.

Published in:

Clinical Genetics, 2014, v. 85, n. 5, p. 417, doi. 10.1111/cge.12299

By:

Rigter, T.;
van Aart, C.J.A.;
Elting, M.W.;
Waisfisz, Q.;
Cornel, M.C.;
Henneman, L.

Publication type:

Article

Genetic variation in MKL2 and decreased downstream PCTAIRE1 expression in extreme, fatal primary human microcephaly.

Published in:

Clinical Genetics, 2014, v. 85, n. 5, p. 423, doi. 10.1111/cge.12197

By:

Ramos, E.I.;
Bien‐Willner, G.A.;
Li, J.;
Hughes, A.E.O.;
Giacalone, J.;
Chasnoff, S.;
Kulkarni, S.;
Parmacek, M.;
Cole, F.S.;
Druley, T.E.

Publication type:

Article

Pregnancy in an individual with mild Smith-Lemli-Opitz syndrome.

Published in:

Clinical Genetics, 2014, v. 85, n. 5, p. 495, doi. 10.1111/cge.12209

By:

Ellingson, M.S.;
Wick, M.J.;
White, W.M.;
Raymond, K.M.;
Saenger, A.K.;
Pichurin, P.N.;
Wassif, C.A.;
Porter, F.D.;
Babovic‐Vuksanovic, D.

Publication type:

Article

Improving detection and genetic counseling in carriers of spinal muscular atrophy with two copies of the SMN1 gene.

Published in:

Clinical Genetics, 2014, v. 85, n. 5, p. 470, doi. 10.1111/cge.12222

By:

Alías, L.;
Barceló, M.J.;
Bernal, S.;
Martínez‐Hernández, R.;
Also‐Rallo, E.;
Vázquez, C.;
Santana, A.;
Millán, J.M.;
Baiget, M.;
Tizzano, E.F.

Publication type:

Article

Dawning of the epigenetic era in hereditary cancer.

Published in:

Clinical Genetics, 2014, v. 85, n. 5, p. 413, doi. 10.1111/cge.12369

By:

Hitchins, M.P.;
Lynch, H.T.

Publication type:

Article

Novel lip pit phenotypes and mutations of IRF6 in Van der Woude syndrome patients from Pakistan.

Published in:

Clinical Genetics, 2014, v. 85, n. 5, p. 487, doi. 10.1111/cge.12207

By:

Malik, S.;
Wilcox, E.R.;
Naz, S.

Publication type:

Article

Split hand/foot malformation with long-bone deficiency and BHLHA9 duplication: report of 13 new families.

Published in:

Clinical Genetics, 2014, v. 85, n. 5, p. 464, doi. 10.1111/cge.12219

By:

Petit, F.;
Jourdain, A.‐S.;
Andrieux, J.;
Baujat, G.;
Baumann, C.;
Beneteau, C.;
David, A.;
Faivre, L.;
Gaillard, D.;
Gilbert‐Dussardier, B.;
Jouk, P.‐S.;
Le Caignec, C.;
Loget, P.;
Pasquier, L.;
Porchet, N.;
Holder‐Espinasse, M.;
Manouvrier‐Hanu, S.;
Escande, F.

Publication type:

Article

Frequency of FMR1 premutation carriers and rate of expansion to full mutation in a retrospective diagnostic FMR1 Korean sample.

Published in:

Clinical Genetics, 2014, v. 85, n. 5, p. 441, doi. 10.1111/cge.12195

By:

Jang, J.‐H.;
Lee, K.;
Cho, E.‐H.;
Lee, E.‐H.;
Kim, J.‐W.;
Ki, C.‐S.

Publication type:

Article

A family with two female siblings with compound heterozygous FMR1 premutation alleles.

Published in:

Clinical Genetics, 2014, v. 85, n. 5, p. 458, doi. 10.1111/cge.12218

By:

Basuta, K.;
Lozano, R.;
Schneider, A.;
Yrigollen, C.M.;
Hessl, D.;
Hagerman, R.J.;
Tassone, F.

Publication type:

Article

Floating-Harbor syndrome: SRCAP mutations are not restricted to exon 34.

Published in:

Clinical Genetics, 2014, v. 85, n. 5, p. 498, doi. 10.1111/cge.12199

By:

Kehrer, M.;
Beckmann, A.;
Wyduba, J.;
Finckh, U.;
Dufke, A.;
Gaiser, U.;
Tzschach, A.

Publication type:

Article

Epigenetic mechanisms in the pathogenesis of Lynch syndrome.

Published in:

Clinical Genetics, 2014, v. 85, n. 5, p. 403, doi. 10.1111/cge.12349

By:

Peltomäki, P.

Publication type:

Article

Clinical and descriptive genetic study of polydactyly: a Pakistani experience of 313 cases.

Published in:

Clinical Genetics, 2014, v. 85, n. 5, p. 482, doi. 10.1111/cge.12217

By:

Malik, S.;
Ullah, S.;
Afzal, M.;
Lal, K.;
Haque, S.

Publication type:

Article

Could a patient with SMC1A duplication be classified as a human cohesinopathy?

Published in:

Clinical Genetics, 2014, v. 85, n. 5, p. 446, doi. 10.1111/cge.12194

By:

Baquero‐Montoya, C.;
Gil‐Rodríguez, M.C.;
Teresa‐Rodrigo, M.E.;
Hernández‐Marcos, M.;
Bueno‐Lozano, G.;
Bueno‐Martínez, I.;
Remeseiro, S.;
Fernández‐Hernández, R.;
Bassecourt‐Serra, M.;
Rodríguez de Alba, M.;
Queralt, E.;
Losada, A.;
Puisac, B.;
Ramos, F.J.;
Pié, J.

Publication type:

Article

Mesoaxial polydactyly is a major feature in Bardet-Biedl syndrome patients with LZTFL1 ( BBS17) mutations.

Published in:

Clinical Genetics, 2014, v. 85, n. 5, p. 476, doi. 10.1111/cge.12198

By:

Schaefer, E.;
Lauer, J.;
Durand, M.;
Pelletier, V.;
Obringer, C.;
Claussmann, A.;
Braun, J.‐J.;
Redin, C.;
Mathis, C.;
Muller, J.;
Schmidt‐Mutter, C.;
Flori, E.;
Marion, V.;
Stoetzel, C.;
Dollfus, H.

Publication type:

Article