Works matching IS 00099163 AND DT 2011 AND VI 80 AND IP 5

Results: 19

Paternal mosaicism of an STXBP1 mutation in OS.

Published in:

Clinical Genetics, 2011, v. 80, n. 5, p. 484, doi. 10.1111/j.1399-0004.2010.01575.x

By:

Saitsu, H;
Hoshino, H;
Kato, M;
Nishiyama, K;
Okada, I;
Yoneda, Y;
Tsurusaki, Y;
Doi, H;
Miyake, N;
Kubota, M;
Hayasaka, K;
Matsumoto, N

Publication type:

Article

Early cerebral manifestations in a young female with Fabry disease with skewed X-inactivation.

Published in:

Clinical Genetics, 2011, v. 80, n. 5, p. 500, doi. 10.1111/j.1399-0004.2011.01643.x

By:

Bouwman, MG;
Rombach, SM;
Linthorst, GE;
Poorthuis, BJHM;
Lekanne Deprez, RH;
Aerts, JMFG;
Wijburg, FA

Publication type:

Article

Mutations in the PDYN gene (SCA23) are not a frequent cause of dominant ataxia in Central Europe.

Published in:

Clinical Genetics, 2011, v. 80, n. 5, p. 503, doi. 10.1111/j.1399-0004.2011.01651.x

By:

Schicks, J;
Synofzik, M;
Beetz, C;
Schiele, F;
Schöls, L

Publication type:

Article

Skipping along: an exon skipping therapy shows promise for Duchenne muscular dystrophy.

Published in:

Clinical Genetics, 2011, v. 80, n. 5, p. 424, doi. 10.1111/j.1399-0004.2011.01769.x

By:

Hawkins, AK

Publication type:

Article

An autosomal recessive syndrome of severe cognitive impairment, dysmorphic facies and skeletal abnormalities maps to the long arm of chromosome 17.

Published in:

Clinical Genetics, 2011, v. 80, n. 5, p. 489, doi. 10.1111/j.1399-0004.2010.01573.x

By:

Al-Owain, M;
Alazami, AM;
Alkuraya, FS

Publication type:

Article

Hemizygous deletions on chromosome 1p21.3 involving the DPYD gene in individuals with autism spectrum disorder.

Published in:

Clinical Genetics, 2011, v. 80, n. 5, p. 435, doi. 10.1111/j.1399-0004.2010.01578.x

By:

Carter, MT;
Nikkel, SM;
Fernandez, BA;
Marshall, CR;
Noor, A;
Lionel, AC;
Prasad, A;
Pinto, D;
Joseph-George, AM;
Noakes, C;
Fairbrother-Davies, C;
Roberts, W;
Vincent, J;
Weksberg, R;
Scherer, SW

Publication type:

Article

Looping the link between Gaucher and Parkinson's disease.

Published in:

Clinical Genetics, 2011, v. 80, n. 5, p. 426, doi. 10.1111/j.1399-0004.2011.01768.x

By:

Hawkins, AK

Publication type:

Article

Maternal uniparental isodisomy and heterodisomy on chromosome 6 encompassing a CUL7 gene mutation causing 3M syndrome.

Published in:

Clinical Genetics, 2011, v. 80, n. 5, p. 478, doi. 10.1111/j.1399-0004.2010.01599.x

By:

Sasaki, K;
Okamoto, N;
Kosaki, K;
Yorifuji, T;
Shimokawa, O;
Mishima, H;
Yoshiura, K-i;
Harada, N

Publication type:

Article

Female Hunter syndrome caused by a single mutation and familial XCI skewing: implications for other X-linked disorders.

Published in:

Clinical Genetics, 2011, v. 80, n. 5, p. 459, doi. 10.1111/j.1399-0004.2010.01574.x

By:

Kloska, A;
Jakóbkiewicz-Banecka, J;
Tylki-Szymańska, A;
Czartoryska, B;
Węgrzyn, G

Publication type:

Article

Development and validation of an instrument to measure the impact of genetic testing on self-concept in Lynch syndrome.

Published in:

Clinical Genetics, 2011, v. 80, n. 5, p. 415, doi. 10.1111/j.1399-0004.2011.01770.x

By:

Esplen, MJ;
Stuckless, N;
Gallinger, S;
Aronson, M;
Rothenmund, H;
Semotiuk, K;
Stokes, J;
Way, C;
Green, J;
Butler, K;
Petersen, HV;
Wong, J

Publication type:

Article

Spinocerebellar ataxia type 17 in Indian patients: two rare cases of homozygous expansions.

Published in:

Clinical Genetics, 2011, v. 80, n. 5, p. 472, doi. 10.1111/j.1399-0004.2010.01589.x

By:

Hire, RR;
Katrak, SM;
Vaidya, S;
Radhakrishnan, K;
Seshadri, M

Publication type:

Article

Is Hardikar syndrome distinct from Kabuki (Niikawa-Kuroki) syndrome?

Published in:

Clinical Genetics, 2011, v. 80, n. 5, p. 493, doi. 10.1111/j.1399-0004.2011.01672.x

By:

Ejarque, I;
Uliana, V;
Forzano, F;
Marciano, C;
Merla, G;
Zelante, L;
Di Maria, E;
Faravelli, F

Publication type:

Article

Familial Simpson-Golabi-Behmel syndrome: studies of X-chromosome inactivation and clinical phenotypes in two female individuals with GPC3 mutations.

Published in:

Clinical Genetics, 2011, v. 80, n. 5, p. 466, doi. 10.1111/j.1399-0004.2010.01554.x

By:

Yano, S;
Baskin, B;
Bagheri, A;
Watanabe, Y;
Moseley, K;
Nishimura, A;
Matsumoto, N;
Ray, PN

Publication type:

Article

Krabbe leukodystrophy in a selected population with high rate of late onset forms: longer survival linked to c.121G>A (p.Gly41Ser) mutation.

Published in:

Clinical Genetics, 2011, v. 80, n. 5, p. 452, doi. 10.1111/j.1399-0004.2010.01572.x

By:

Fiumara, A;
Barone, R;
Arena, A;
Filocamo, M;
Lissens, W;
Pavone, L;
Sorge, G

Publication type:

Article

Using Alzheimer's disease as a model for genetic risk disclosure: implications for personal genomics.

Published in:

Clinical Genetics, 2011, v. 80, n. 5, p. 407, doi. 10.1111/j.1399-0004.2011.01739.x

By:

Roberts, JS;
Christensen, KD;
Green, RC

Publication type:

Article

Mutational analysis of PMP22, GJB1 and MPZ in Greek Charcot-Marie-Tooth type 1 neuropathy patients.

Published in:

Clinical Genetics, 2011, v. 80, n. 5, p. 497, doi. 10.1111/j.1399-0004.2011.01657.x

By:

Karadima, G;
Floroskufi, P;
Koutsis, G;
Vassilopoulos, D;
Panas, M

Publication type:

Article

Identification of new cases of early-onset colorectal cancer with an MLH1 epimutation in an ethnically diverse South African cohort.

Published in:

Clinical Genetics, 2011, v. 80, n. 5, p. 428, doi. 10.1111/j.1399-0004.2011.01660.x

By:

Hitchins, MP;
Owens, SE;
Kwok, C-T;
Godsmark, G;
Algar, UF;
Ramesar, RS

Publication type:

Article

Congenital myasthenic syndrome associated with epidermolysis bullosa caused by homozygous mutations in PLEC1 and CHRNE.

Published in:

Clinical Genetics, 2011, v. 80, n. 5, p. 444, doi. 10.1111/j.1399-0004.2010.01602.x

By:

Maselli, RA;
Arredondo, J;
Cagney, O;
Mozaffar, T;
Skinner, S;
Yousif, S;
Davis, RR;
Gregg, JP;
Sivak, M;
Konia, TH;
Thomas, K;
Wollmann, RL

Publication type:

Article

The accuracy of risks for cancer in Lynch syndrome.

Published in:

Clinical Genetics, 2011, v. 80, n. 5, p. 425, doi. 10.1111/j.1399-0004.2011.01767.x

By:

Hawkins, AK

Publication type:

Article