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

Results: 19

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
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
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
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
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
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
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
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
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
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
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
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
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
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