Works matching IS 00099163 AND DT 2014 AND VI 85 AND IP 4

Results: 19

Phenotypic variability of a likely FA2H founder mutation in a family with complicated hereditary spastic paraplegia.

Published in:

Clinical Genetics, 2014, v. 85, n. 4, p. 393, doi. 10.1111/cge.12185

By:

Donkervoort, S.;
Dastgir, J.;
Hu, Y.;
Zein, W.M.;
Marks, H.;
Blackstone, C.;
Bönnemann, C.G.

Publication type:

Article

Recurrence of Hirschsprung disease due to maternal mosaicism of a novel RET gene mutation.

Published in:

Clinical Genetics, 2014, v. 85, n. 4, p. 401, doi. 10.1111/cge.12163

By:

Amiñoso, C.;
García‐Miñaúr, S.;
Martínez, L.;
Tenorio, J.A.;
Tovar, J.A.;
Lapunzina, P.;
Solera, J.

Publication type:

Article

A deleterious mutation in the PEX2 gene causes Zellweger syndrome in individuals of Ashkenazi Jewish descent.

Published in:

Clinical Genetics, 2014, v. 85, n. 4, p. 343, doi. 10.1111/cge.12170

By:

Fedick, A.;
Jalas, C.;
Treff, N.R.

Publication type:

Article

Whole exome sequencing and functional studies identify an intronic mutation in TRAPPC2 that causes SEDT.

Published in:

Clinical Genetics, 2014, v. 85, n. 4, p. 359, doi. 10.1111/cge.12189

By:

Davis, E.E.;
Savage, J.H.;
Willer, J.R.;
Jiang, Y.‐H.;
Angrist, M.;
Androutsopoulos, A.;
Katsanis, N.

Publication type:

Article

Multiplex targeted high-throughput sequencing for Mendelian cardiac disorders.

Published in:

Clinical Genetics, 2014, v. 85, n. 4, p. 365, doi. 10.1111/cge.12168

By:

Fokstuen, S.;
Makrythanasis, P.;
Nikolaev, S.;
Santoni, F.;
Robyr, D.;
Munoz, A.;
Bevillard, J.;
Farinelli, L.;
Iseli, C.;
Antonarakis, S.E.;
Blouin, J.‐L.

Publication type:

Article

Non-invasive prenatal diagnosis for single gene disorders: experience of patients.

Published in:

Clinical Genetics, 2014, v. 85, n. 4, p. 336, doi. 10.1111/cge.12179

By:

Lewis, C.;
Hill, M.;
Chitty, L.S.

Publication type:

Article

The future in clinical genetics: affective forecasting biases in patient and clinician decision making.

Published in:

Clinical Genetics, 2014, v. 85, n. 4, p. 312, doi. 10.1111/cge.12255

By:

Peters, S.A.;
Laham, S.M.;
Pachter, N.;
Winship, I.M.

Publication type:

Article

Cutaneous clues for diagnosing X-chromosomal disorders.

Published in:

Clinical Genetics, 2014, v. 85, n. 4, p. 328, doi. 10.1111/cge.12162

By:

Vreeburg, M.;
Sallevelt, S.C.E.H.;
Stegmann, A.P.A.;
van Geel, M.;
Detisch, Y.J.H.A.;
Schrander‐Stumpel, C.T.R.M.;
van Steensel, M.A.M.;
Marcus‐Soekarman, D.

Publication type:

Article

Evidence-based genetic counselling implications for Huntington disease intermediate allele predictive test results.

Published in:

Clinical Genetics, 2014, v. 85, n. 4, p. 303, doi. 10.1111/cge.12324

By:

Semaka, A.;
Hayden, M.R.

Publication type:

Article

Neurofibromatosis type 1 in two siblings due to maternal germline mosaicism.

Published in:

Clinical Genetics, 2014, v. 85, n. 4, p. 386, doi. 10.1111/cge.12177

By:

Trevisson, E.;
Forzan, M.;
Salviati, L.;
Clementi, M.

Publication type:

Article

AKT3 and PIK3R2 mutations in two patients with megalencephaly-related syndromes: MCAP and MPPH.

Published in:

Clinical Genetics, 2014, v. 85, n. 4, p. 396, doi. 10.1111/cge.12188

By:

Nakamura, K.;
Kato, M.;
Tohyama, J.;
Shiohama, T.;
Hayasaka, K.;
Nishiyama, K.;
Kodera, H.;
Nakashima, M.;
Tsurusaki, Y.;
Miyake, N.;
Matsumoto, N.;
Saitsu, H.

Publication type:

Article

Identification of novel locus at chromosome 3p12.3-q13.31 for autosomal recessive intellectual disability in a consanguineous family.

Published in:

Clinical Genetics, 2014, v. 85, n. 4, p. 390, doi. 10.1111/cge.12161

By:

Dad, S.;
Østergaard, E.;
Wadt, K.A.;
Lunding, J.;
Eiberg, H.;
Møller, L.B.

Publication type:

Article

Isolated hypermethylation of GRB10 (7p12.2) in a Silver-Russell syndrome patient carrying a 20p13 microdeletion.

Published in:

Clinical Genetics, 2014, v. 85, n. 4, p. 399, doi. 10.1111/cge.12186

By:

Eggermann, T.;
Schneider‐Rätzke, B.;
Begemann, M.;
Spengler, S.

Publication type:

Article

Analysis of ASPM in an ethnically diverse cohort of 400 patient samples: perspectives of the molecular diagnostic laboratory.

Published in:

Clinical Genetics, 2014, v. 85, n. 4, p. 353, doi. 10.1111/cge.12172

By:

Tan, CA;
del Gaudio, D.;
Dempsey, M.A.;
Arndt, K.;
Botes, S.;
Reeder, A.;
Das, S.

Publication type:

Article

Congenital posterior pole cataract and adult onset dilating cardiomyopathy: expanding the phenotype of αB-crystallinopathies.

Published in:

Clinical Genetics, 2014, v. 85, n. 4, p. 381, doi. 10.1111/cge.12169

By:

van der Smagt, J.J.;
Vink, A.;
Kirkels, J.H.;
Nelen, M.;
ter Heide, H.;
Molenschot, M.M.C.;
Weger, R.A.;
Schellekens, P.A.W.;
Hoogendijk, J.;
Dooijes, D.

Publication type:

Article

A clinical and genetic overview of 18 years neurofibromatosis type 1 molecular diagnostics in the Netherlands.

Published in:

Clinical Genetics, 2014, v. 85, n. 4, p. 318, doi. 10.1111/cge.12187

By:

van Minkelen, R.;
van Bever, Y.;
Kromosoeto, J.N.R.;
Withagen‐Hermans, C.J.;
Nieuwlaat, A.;
Halley, D.J.J.;
van den Ouweland, A.M.W.

Publication type:

Article

NPHP4 mutation is linked to cerebello-oculo-renal syndrome and male infertility.

Published in:

Clinical Genetics, 2014, v. 85, n. 4, p. 371, doi. 10.1111/cge.12160

By:

Alazami, A.M.;
Alshammari, M.J.;
Baig, M.;
Salih, M.A.;
Hassan, H.H.;
Alkuraya, F.S.

Publication type:

Article

Craniofrontonasal syndrome in a male due to chromosomal mosaicism involving EFNB1: further insights into a genetic paradox.

Published in:

Clinical Genetics, 2014, v. 85, n. 4, p. 347, doi. 10.1111/cge.12171

By:

Evers, C.;
Jungwirth, M.S.;
Morgenthaler, J.;
Hinderhofer, K.;
Maas, B.;
Janssen, J.W.G.;
Jauch, A.;
Hehr, U.;
Steinbeisser, H.;
Moog, U.

Publication type:

Article

'Deletion rescue' by mitotic 11q uniparental disomy in a family with recurrence of 11q deletion Jacobsen syndrome.

Published in:

Clinical Genetics, 2014, v. 85, n. 4, p. 376, doi. 10.1111/cge.12164

By:

Johnson, J.P.;
Haag, M.;
Beischel, L.;
McCann, C.;
Phillips, S.;
Tunby, M.;
Hansen, J.;
Schwanke, C.;
Reynolds, J.F.

Publication type:

Article