Works matching IS 00099163 AND DT 2009 AND VI 75 AND IP 3

Results: 20

Identities and frequencies of mutations of the otoferlin gene ( OTOF) causing DFNB9 deafness in Pakistan.

Published in:

Clinical Genetics, 2009, v. 75, n. 3, p. 237, doi. 10.1111/j.1399-0004.2008.01128.x

By:

Choi, B. Y.;
Ahmed, Z. M.;
Riazuddin, S.;
Bhinder, M. A.;
Shahzad, M.;
Husnain, T.;
Griffith, A. J.;
Friedman, T. B.

Publication type:

Article

4p16.3 haplotype modifying age at onset of Huntington disease.

Published in:

Clinical Genetics, 2009, v. 75, n. 3, p. 244, doi. 10.1111/j.1399-0004.2008.01136.x

By:

Nørremølle, A.;
Budtz-Jørgensen, E.;
Fenger, K.;
Nielsen, J. E.;
Sørensen, S. A.;
Hasholt, L.

Publication type:

Article

Skoura – a genetic island for congenital insensitivity to pain and anhidrosis among Moroccan Jews, as determined by a novel mutation in the NTRK1 gene.

Published in:

Clinical Genetics, 2009, v. 75, n. 3, p. 230, doi. 10.1111/j.1399-0004.2008.01143.x

By:

Suriu, C.;
Khayat, M.;
Weiler, M.;
Kfir, N.;
Cohen, C.;
Zinger, A.;
Aslanidis, C.;
Schmitz, G.;
Falik-Zaccai, T. C.

Publication type:

Article

Clinical and genetic analysis of the CHD7 gene in Korean patients with CHARGE syndrome.

Published in:

2009

By:

Lee, Y. -W.;
Kim, S. C.;
Shin, Y. L.;
Kim, J. -W.;
Hong, H. S.;
Lee, Y. K.;
Kid, C. -S.

Publication type:

Letter

Mutations in FAM20C also identified in non-lethal osteosclerotic bone dysplasia.

Published in:

Clinical Genetics, 2009, v. 75, n. 3, p. 271, doi. 10.1111/j.1399-0004.2008.01118.x

By:

Simpson, M. A.;
Scheuerle, A.;
Hurst, J.;
Patton, M. A.;
Stewart, H.;
Crosby, A. H.

Publication type:

Article

Homozygous NLRP7 mutations in a Moroccan woman with recurrent reproductive failure.

Published in:

2009

By:

J Puechberty;
C Rittore;
L Philibert;
G Lefort;
G Burlet;
P Bénos;
L Reyftmann;
P Sarda;
I Touitou

Publication type:

Letter

The clinical variability of the MECP2 duplication syndrome: description of two families with duplications excluding L1CAM and FLNA.

Published in:

2009

By:

Kirk, E. P.;
Malaty-Brevaud, V.;
Martini, N.;
Lacoste, C.;
Levy, N.;
Maclean, K.;
Davies, L.;
Philip, N.;
Badens, C.

Publication type:

Letter

Epimutation at human chromosome 14q32.2 in a boy with a upd(14)mat-like clinical phenotype.

Published in:

Clinical Genetics, 2009, v. 75, n. 3, p. 251, doi. 10.1111/j.1399-0004.2008.01116.x

By:

Zechner, U.;
Kohlschmidt, N.;
Rittner, G.;
Damatova, N.;
Beyer, V.;
Haaf, T.;
Bartsch, O.

Publication type:

Article

Breast and ovarian cancer risk perception after prophylactic salpingo-oophorectomy due to an inherited mutation in the BRCA1 or BRCA2 gene.

Published in:

Clinical Genetics, 2009, v. 75, n. 3, p. 220, doi. 10.1111/j.1399-0004.2008.01117.x

By:

Finch, A.;
Metcalfe, K.;
Lui, J.;
Springate, C.;
Demsky, R.;
Armel, S.;
Rosen, B.;
Murphy, J.;
Elit, L.;
Sun, P.;
Narod, S.

Publication type:

Article

Preimplantation genetic diagnosis in an HIV-serodiscordant couple carrier for sickle cell disease: lessons from a case report.

Published in:

Clinical Genetics, 2009, v. 75, n. 3, p. 277, doi. 10.1111/j.1399-0004.2008.01119.x

By:

Gonzalez-Merino, E.;
Zengbe, V.;
Vannin, A. S.;
Place, I.;
Bostan, A.;
Emiliani, S.;
Liesnard, C.;
Goffard, J. C.;
Abramowicz, M.;
Englert, Y.

Publication type:

Article

Severe phenotype with cis-acting heterozygous PMP22 mutations.

Published in:

Clinical Genetics, 2009, v. 75, n. 3, p. 286, doi. 10.1111/j.1399-0004.2008.01120.x

By:

Niedrist, D.;
Joncourt, F.;
Mátyás, G.;
Müller, A.

Publication type:

Article

Prevalence of dural ectasia in 63 gene-mutation-positive patients with features of Marfan syndrome type 1 and Loeys-Dietz syndrome and report of 22 novel FBN1 mutations.

Published in:

Clinical Genetics, 2009, v. 75, n. 3, p. 265, doi. 10.1111/j.1399-0004.2008.01126.x

By:

Söylen, B.;
Singh, K. K.;
Abuzainin, A.;
Rommel, K.;
Becker, H.;
Arslan-Kirchner, M.;
Schmidtke, J.

Publication type:

Article

Role of mutational analysis in diagnosis of tuberous sclerosis complex.

Published in:

Clinical Genetics, 2009, v. 75, n. 3, p. 282, doi. 10.1111/j.1399-0004.2008.01129.x

By:

Vail, E. A.;
Rakowski, S. K.;
Numis, A. L.;
Thiele, E. A.

Publication type:

Article

A molecular approach for identifying individuals with Li–Fraumeni syndrome who have a limited family history.

Published in:

2009

By:

Ang, P.;
Lim, I. H. K.;
Yong, R. Y. Y.;
Lee, A. S. G.

Publication type:

Letter

Noncoding RNAs in mental retardation.

Published in:

Clinical Genetics, 2009, v. 75, n. 3, p. 209, doi. 10.1111/j.1399-0004.2008.01134.x

By:

Szulwach, K. E.;
Jin, P.;
Alisch, R. S.

Publication type:

Article

Toriello–Carey syndrome in a patient with a de novo balanced translocation [46,XY,t(2;14)(q33;q22)] interrupting SATB2.

Published in:

Clinical Genetics, 2009, v. 75, n. 3, p. 259, doi. 10.1111/j.1399-0004.2008.01145.x

By:

Tegay, D. H.;
Chan, K. K.;
Leung, L.;
Wang, C.;
Burkett, S.;
Stone, G.;
Stanyon, R.;
Toriello, H. V.;
Hatchwell, E.

Publication type:

Article

Two novel LKB1 mutations in Colombian Peutz–Jeghers syndrome patients.

Published in:

2009

By:

Vélez, A.;
Gaitan, M. H.;
Marquez, J. R.;
Castaño, A.;
Restrepo, J. I.;
Jaramillo, S.;
Gamarrab, A.;
Novellic, M.;
Echeverry, M. M.;
Tomlinson, I.;
Carvajal-Carmona, L. G.

Publication type:

Letter

A prickly cause of progressive myoclonic epilepsy.

Published in:

Clinical Genetics, 2009, v. 75, n. 3, p. 225, doi. 10.1111/j.1399-0004.2009.01150_1.x

By:

Warby, S.

Publication type:

Article

Finding bald spots on chromosome 20p11.

Published in:

Clinical Genetics, 2009, v. 75, n. 3, p. 226, doi. 10.1111/j.1399-0004.2009.01150_2.x

By:

Doty, C. N.

Publication type:

Article

LRTOMT: a new tone in understanding the symphony of non-syndromic deafness.

Published in:

Clinical Genetics, 2009, v. 75, n. 3, p. 227, doi. 10.1111/j.1399-0004.2009.01150_3.x

By:

Schulze, J. M.

Publication type:

Article