Works matching IS 00099163 AND DT 2014 AND VI 86 AND IP 6

Results: 20

Overview of Bardet-Biedl syndrome in Spain: identification of novel mutations in BBS1, BBS10 and BBS12 genes.

Published in:

Clinical Genetics, 2014, v. 86, n. 6, p. 601, doi. 10.1111/cge.12334

By:

Álvarez‐Satta, M.;
Castro‐Sánchez, S.;
Pereiro, I.;
Piñeiro‐Gallego, T.;
Baiget, M.;
Ayuso, C.;
Valverde, D.

Publication type:

Article

Intellectual disability: novel mutations in DEAF1 cause speech impairment and behavioral problems.

Published in:

Clinical Genetics, 2014, v. 86, n. 6, p. 507, doi. 10.1111/cge.12475

By:

Waltl, S.

Publication type:

Article

Panel-based testing for inherited colorectal cancer: a descriptive study of clinical testing performed by a US laboratory.

Published in:

Clinical Genetics, 2014, v. 86, n. 6, p. 510, doi. 10.1111/cge.12359

By:

Cragun, D.;
Radford, C.;
Dolinsky, J.S.;
Caldwell, M.;
Chao, E.;
Pal, T.

Publication type:

Article

Evidence for clinical, genetic and biochemical variability in spinal muscular atrophy with progressive myoclonic epilepsy.

Published in:

Clinical Genetics, 2014, v. 86, n. 6, p. 558, doi. 10.1111/cge.12307

By:

Dyment, D.A.;
Sell, E.;
Vanstone, M.R.;
Smith, A.C.;
Garandeau, D.;
Garcia, V.;
Carpentier, S.;
Le Trionnaire, E.;
Sabourdy, F.;
Beaulieu, C.L.;
Schwartzentruber, J.A.;
McMillan, H.J.;
Majewski, J.;
Bulman, D.E.;
Levade, T.;
Boycott, K.M.

Publication type:

Article

Dural ectasia in Loeys-Dietz syndrome: comprehensive study of 30 patients with a TGFBR1 or TGFBR2 mutation.

Published in:

Clinical Genetics, 2014, v. 86, n. 6, p. 545, doi. 10.1111/cge.12308

By:

Sheikhzadeh, S.;
Brockstaedt, L.;
Habermann, C.R.;
Sondermann, C.;
Bannas, P.;
Mir, T.S.;
Staebler, A.;
Seidel, H.;
Keyser, B.;
Arslan‐Kirchner, M.;
Kutsche, K.;
Berger, J.;
Blankenberg, S.;
von Kodolitsch, Y.

Publication type:

Article

Homozygous loss-of-function mutation of the LEPREL1 gene causes severe non-syndromic high myopia with early-onset cataract.

Published in:

Clinical Genetics, 2014, v. 86, n. 6, p. 575, doi. 10.1111/cge.12309

By:

Guo, H.;
Tong, P.;
Peng, Y.;
Wang, T.;
Liu, Y.;
Chen, J.;
Li, Y.;
Tian, Q.;
Hu, Y.;
Zheng, Y.;
Xiao, L.;
Xiong, W.;
Pan, Q.;
Hu, Z.;
Xia, K.

Publication type:

Article

Evolution of a genetic diagnosis.

Published in:

Clinical Genetics, 2014, v. 86, n. 6, p. 580, doi. 10.1111/cge.12320

By:

Laksman, Z.;
Dulay, D.;
Gollob, M.H.;
Skanes, A.C.;
Krahn, A.D.

Publication type:

Article

Identification of an IGSF3 mutation in a family with congenital nasolacrimal duct obstruction.

Published in:

Clinical Genetics, 2014, v. 86, n. 6, p. 589, doi. 10.1111/cge.12321

By:

Foster, J.;
Kapoor, S.;
Diaz‐Horta, O.;
Singh, A.;
Abad, C.;
Rastogi, A.;
Moharana, R.;
Tekeli, O.;
Walz, K.;
Tekin, M.

Publication type:

Article

Deep intronic KRIT1 mutation in a family with clinically silent multiple cerebral cavernous malformations.

Published in:

Clinical Genetics, 2014, v. 86, n. 6, p. 585, doi. 10.1111/cge.12322

By:

Riant, F.;
Odent, S.;
Cecillon, M.;
Pasquier, L.;
de Baracé, C.;
Carney, M.P.;
Tournier‐Lasserve, E.

Publication type:

Article

Cluster of patients with Familial Mediterranean fever and heterozygous carriers of mutations in MEFV gene in the Czech Republic.

Published in:

Clinical Genetics, 2014, v. 86, n. 6, p. 564, doi. 10.1111/cge.12323

By:

Šedivá, A.;
Horváth, R.;
Maňásek, V.;
Gregorová, A.;
Plevová, P.;
Horáčková, M.;
Tesařová, M.;
Toplak, N.;
Debeljak, M.

Publication type:

Article

Rare variants in methionyl- and tyrosyl- tRNA synthetase genes in late-onset autosomal dominant Charcot-Marie-Tooth neuropathy.

Published in:

Clinical Genetics, 2014, v. 86, n. 6, p. 592, doi. 10.1111/cge.12327

By:

Hyun, Y.S.;
Park, H.J.;
Heo, S.‐H.;
Yoon, B.R.;
Nam, S.H.;
Kim, S.‐B.;
Park, C.I.;
Choi, B.‐O.;
Chung, K.W.

Publication type:

Article

Olfaction evaluation and correlation with brain atrophy in Bardet-Biedl syndrome.

Published in:

Clinical Genetics, 2014, v. 86, n. 6, p. 521, doi. 10.1111/cge.12391

By:

Braun, J.‐J.;
Noblet, V.;
Durand, M.;
Scheidecker, S.;
Zinetti‐Bertschy, A.;
Foucher, J.;
Marion, V.;
Muller, J.;
Riehm, S.;
Dollfus, H.;
Kremer, S.

Publication type:

Article

A recurrent mutation in DEPDC5 predisposes to focal epilepsies in the French-Canadian population.

Published in:

Clinical Genetics, 2014, v. 86, n. 6, p. 570, doi. 10.1111/cge.12311

By:

Martin, C.;
Meloche, C.;
Rioux, M.‐F.;
Nguyen, D.K.;
Carmant, L.;
Andermann, E.;
Gravel, M.;
Cossette, P.

Publication type:

Article

Detection of 15 novel mutations in 52 children from 40 families with the Marfan or Loeys-Dietz syndrome and phenotype-genotype correlations.

Published in:

Clinical Genetics, 2014, v. 86, n. 6, p. 552, doi. 10.1111/cge.12314

By:

Pees, C.;
Michel‐Behnke, I.;
Hagl, M.;
Laccone, F.

Publication type:

Article

Molecular analyses of novel ASAH1 mutations causing Farber lipogranulomatosis: analyses of exonic splicing enhancer inactivating mutation.

Published in:

Clinical Genetics, 2014, v. 86, n. 6, p. 530, doi. 10.1111/cge.12316

By:

Bashyam, M.D.;
Chaudhary, A.K.;
Kiran, M.;
Reddy, V.;
Nagarajaram, H.A.;
Dalal, A.;
Bashyam, L.;
Suri, D.;
Gupta, A.;
Gupta, N.;
Kabra, M.;
Puri, R.D.;
RamaDevi, R.;
Kapoor, S.;
Danda, S.

Publication type:

Article

A novel de novo point mutation of the OCT-binding site in the IGF2/ H19-imprinting control region in a Beckwith-Wiedemann syndrome patient.

Published in:

Clinical Genetics, 2014, v. 86, n. 6, p. 539, doi. 10.1111/cge.12318

By:

Higashimoto, K.;
Jozaki, K.;
Kosho, T.;
Matsubara, K.;
Fuke, T.;
Yamada, D.;
Yatsuki, H.;
Maeda, T.;
Ohtsuka, Y.;
Nishioka, K.;
Joh, K.;
Koseki, H.;
Ogata, T.;
Soejima, H.

Publication type:

Article

Reevaluation of the CMT1A duplication frequency in Greek Charcot-Marie-Tooth type 1 patients.

Published in:

Clinical Genetics, 2014, v. 86, n. 6, p. 603, doi. 10.1111/cge.12382

By:

Karadima, G.;
Koutsis, G.;
Karletidi, K.‐M.;
Panas, M.

Publication type:

Article

Progressive microcephaly is caused by compound-heterozygous mutations in QARS.

Published in:

Clinical Genetics, 2014, v. 86, n. 6, p. 508, doi. 10.1111/cge.12457

By:

Waltl, S.

Publication type:

Article

Somatic mosaicism in a Cornelia de Lange syndrome patient with NIPBL mutation identified by different next generation sequencing approaches.

Published in:

Clinical Genetics, 2014, v. 86, n. 6, p. 595, doi. 10.1111/cge.12333

By:

Baquero‐Montoya, C.;
Gil‐Rodríguez, M.C.;
Braunholz, D.;
Teresa‐Rodrigo, M.E.;
Obieglo, C.;
Gener, B.;
Schwarzmayr, T.;
Strom, T.M.;
Gómez‐Puertas, P.;
Puisac, B.;
Gillessen‐Kaesbach, G.;
Musio, A.;
Ramos, F.J.;
Kaiser, F.J.;
Pié, J.

Publication type:

Article

Using a combination of whole-exome sequencing and homozygosity mapping to identify a novel mutation of SCARB2.

Published in:

Clinical Genetics, 2014, v. 86, n. 6, p. 598, doi. 10.1111/cge.12338

By:

He, M.;
Tang, B.‐S.;
Li, N.;
Mao, X.;
Li, J.;
Zhang, J.‐G.;
Xiao, J.‐J.;
Wang, J.;
Jiang, H.;
Shen, L.;
Guo, J.‐F.;
Xia, K.;
Wang, J.‐L.

Publication type:

Article