Works matching IS 00099163 AND DT 2012 AND VI 81 AND IP 6

Results: 15

High frequency of p.Thr93Met in Smith-Lemli-Opitz syndrome patients in Turkey.

Published in:

Clinical Genetics, 2012, v. 81, n. 6, p. 598, doi. 10.1111/j.1399-0004.2011.01750.x

By:

Kalb, S;
Caglayan, AO;
Degerliyurt, A;
Schmid, S;
Ceylaner, S;
Hatipoglu, N;
Hinderhofer, K;
Rehder, H;
Kurtoglu, S;
Ceylaner, G;
Zschocke, J;
Witsch-Baumgartner, M

Publication type:

Article

E-genetics: exploring the acceptability and feasibility of using technology in cancer genetics services.

Published in:

Clinical Genetics, 2012, v. 81, n. 6, p. 514, doi. 10.1111/j.1399-0004.2011.01813.x

By:

Hilgart, J;
Hayward, JA;
Iredale, R

Publication type:

Article

Two novel germline KRAS mutations: expanding the molecular and clinical phenotype.

Published in:

Clinical Genetics, 2012, v. 81, n. 6, p. 590, doi. 10.1111/j.1399-0004.2011.01754.x

By:

Stark, Z;
Gillessen-Kaesbach, G;
Ryan, MM;
Cirstea, IC;
Gremer, L;
Ahmadian, MR;
Savarirayan, R;
Zenker, M

Publication type:

Article

Fabry disease 'The New Great Imposter': results of the French Observatoire in Internal Medicine Departments (FIMeD).

Published in:

Clinical Genetics, 2012, v. 81, n. 6, p. 571, doi. 10.1111/j.1399-0004.2011.01718.x

By:

Lidove, O;
Kaminsky, P;
Hachulla, E;
Leguy-Seguin, V;
Lavigne, C;
Marie, I;
Maillot, F;
Serratrice, C;
Masseau, A;
Chérin, P;
Cabane, J;
Noel, E

Publication type:

Article

Whole-genome sequencing and the physician.

Published in:

Clinical Genetics, 2012, v. 81, n. 6, p. 511, doi. 10.1111/j.1399-0004.2012.01868.x

By:

Thorogood, A;
Knoppers, BM;
Dondorp, WJ;
de Wert, GMWR

Publication type:

Article

Holoprosencephaly and ZIC2 microdeletions: novel clinical and epidemiological specificities delineated.

Published in:

Clinical Genetics, 2012, v. 81, n. 6, p. 584, doi. 10.1111/j.1399-0004.2011.01684.x

By:

Chabchoub, E;
Willekens, D;
Vermeesch, JR;
Fryns, J-P

Publication type:

Article

Multiple, diffuse schwannomas in a RASopathy phenotype patient with germline KRAS mutation: a causal relationship?

Published in:

Clinical Genetics, 2012, v. 81, n. 6, p. 595, doi. 10.1111/j.1399-0004.2011.01764.x

By:

Bertola, DR;
Pereira, AC;
Brasil, AS;
Suzuki, L;
Leite, C;
Falzoni, R;
Tannuri, U;
Poplawski, AB;
Janowski, KM;
Kim, CA;
Messiaen, LM

Publication type:

Article

Clinical and molecular findings of 13 families from Saudi Arabia and a family from Sudan with homocystinuria.

Published in:

Clinical Genetics, 2012, v. 81, n. 6, p. 563, doi. 10.1111/j.1399-0004.2011.01690.x

By:

Zaidi, SHE;
Faiyaz-Ul-Haque, M;
Shuaib, T;
Balobaid, A;
Rahbeeni, Z;
Abalkhail, H;
Al-Abdullatif, A;
Al-Hassnan, Z;
Peltekova, I;
Al-Owain, M

Publication type:

Article

Evidence for disease penetrance relating to CNV size: Pelizaeus-Merzbacher disease and manifesting carriers with a familial 11 Mb duplication at Xq22.

Published in:

Clinical Genetics, 2012, v. 81, n. 6, p. 532, doi. 10.1111/j.1399-0004.2011.01716.x

By:

Carvalho, CMB;
Bartnik, M;
Pehlivan, D;
Fang, P;
Shen, J;
Lupski, JR

Publication type:

Article

PTEN in colorectal cancer: a report on two Cowden syndrome patients.

Published in:

Clinical Genetics, 2012, v. 81, n. 6, p. 555, doi. 10.1111/j.1399-0004.2011.01639.x

By:

Kersseboom, R;
Dubbink, HJ;
Corver, WE;
van Tilburg, AJP;
Poley, JW;
van Leerdam, ME;
Atmodimedjo, PN;
van de Laar, IMBH;
Collée, JM;
Dinjens, WNM;
Morreau, H;
Wagner, A

Publication type:

Article

Genotype-phenotype correlation in colorectal polyposis.

Published in:

Clinical Genetics, 2012, v. 81, n. 6, p. 521, doi. 10.1111/j.1399-0004.2011.01740.x

By:

Newton, KF;
Mallinson, EKL;
Bowen, J;
Lalloo, F;
Clancy, T;
Hill, J;
Evans, DGR

Publication type:

Article

Next-generation sequencing: ready for the clinics?

Published in:

Clinical Genetics, 2012, v. 81, n. 6, p. 503, doi. 10.1111/j.1399-0004.2012.01865.x

By:

Desai, AN;
Jere, A

Publication type:

Article

Maternal uniparental disomy of chromosome 4 in a patient with limb-girdle muscular dystrophy 2E confirmed by SNP array technology.

Published in:

Clinical Genetics, 2012, v. 81, n. 6, p. 578, doi. 10.1111/j.1399-0004.2011.01681.x

By:

Cottrell, CE;
Mendell, J;
Hart-Kothari, M;
Ell, D;
Thrush, DL;
Astbury, C;
Pastore, M;
Gastier-Foster, JM;
Pyatt, RE

Publication type:

Article

Variant late-infantile neuronal ceroid lipofuscinosis due to a novel heterozygous CLN8 mutation and de novo 8p23.3 deletion.

Published in:

Clinical Genetics, 2012, v. 81, n. 6, p. 602, doi. 10.1111/j.1399-0004.2011.01777.x

By:

Allen, NM;
O'hIci, B;
Anderson, G;
Nestor, T;
Ann Lynch, S;
King, MD

Publication type:

Article

Identification of de novo mutations and rare variants in hypoplastic left heart syndrome.

Published in:

Clinical Genetics, 2012, v. 81, n. 6, p. 542, doi. 10.1111/j.1399-0004.2011.01674.x

By:

Iascone, M;
Ciccone, R;
Galletti, L;
Marchetti, D;
Seddio, F;
Lincesso, AR;
Pezzoli, L;
Vetro, A;
Barachetti, D;
Boni, L;
Federici, D;
Soto, AM;
Comas, JV;
Ferrazzi, P;
Zuffardi, O

Publication type:

Article