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

Results: 18

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
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
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
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
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
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
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
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
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
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
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
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
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
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