Works matching IS 00099163 AND DT 2009 AND VI 76 AND IP 1

Results: 17

Identification of critical regions for clinical features of distal 10q deletion syndrome.

Published in:

Clinical Genetics, 2009, v. 76, n. 1, p. 54, doi. 10.1111/j.1399-0004.2008.01115.x

By:

Yatsenko, S. A.;
Kruer, M. C.;
Bader, P. I.;
Corzo, D.;
Schuette, J.;
Keegan, C. E.;
Nowakowska, B.;
Peacock, S.;
Cai, W. W.;
Peiffer, D. A.;
Gunderson, K. L.;
Ou, Z.;
Chinault, A. C.;
Cheung, S. W.

Publication type:

Article

Copy number variations in three children with sudden infant death.

Published in:

Clinical Genetics, 2009, v. 76, n. 1, p. 63, doi. 10.1111/j.1399-0004.2009.01161.x

By:

Toruner, G. A.;
Kurvathi, R.;
Sugalski, R.;
Shulman, L.;
Twersky, S.;
Pearson, P. G.;
Tozzi, R.;
Schwalb, M. N.;
Wallerstein, R.

Publication type:

Article

Subtelomeric 1q deletion syndrome causing patella hypoplasia and limb deformities, features overlapping with genitopatellar syndrome.

Published in:

2009

By:

Lam, A. C. F.;
Lai, K. K. S.;
Chau, A. T. C.;
Lo, I. F. M.;
Lam, S. T. S.

Publication type:

Letter

A new TBX gene linked to human disease.

Published in:

Clinical Genetics, 2009, v. 76, n. 1, p. 23, doi. 10.1111/j.1399-0004.2009.01231_3.x

By:

Stein, R. A.

Publication type:

Article

Identification of a new form of autosomal dominant spastic paraplegia.

Published in:

2009

By:

Subramony, S. H.;
Nguyen, T. V.;
Langford, L.;
Lin, X.;
Parent, A. D.;
Zhang, J.

Publication type:

Letter

Multiplex ligation-dependent probe amplification analysis to screen for deletions and duplications of the LDLR gene in patients with familial hypercholesterolaemia.

Published in:

Clinical Genetics, 2009, v. 76, n. 1, p. 69, doi. 10.1111/j.1399-0004.2009.01168.x

By:

Taylor, A.;
Martin, B.;
Wang, D.;
Patel, K.;
Humphries, S. E.;
Norbury, G.

Publication type:

Article

Hepatic lipase promoter C-480T polymorphism is associated with serum lipids levels, but not subclinical atherosclerosis: The Cardiovascular Risk in Young Finns Study.

Published in:

Clinical Genetics, 2009, v. 76, n. 1, p. 46, doi. 10.1111/j.1399-0004.2009.01180.x

By:

Fan, Y.-M.;
Raitakari, O. T.;
Kähönen, M.;
Hutri-Kähönen, N.;
Juonala, M.;
Marniemi, J.;
Viikari, J.;
Lehtimäki, T.

Publication type:

Article

Protracted course of juvenile ceroid lipofuscinosis associated with a novel CLN3 mutation (p.Y199X).

Published in:

Clinical Genetics, 2009, v. 76, n. 1, p. 38, doi. 10.1111/j.1399-0004.2009.01179.x

By:

Sarpong, A.;
Schottmann, G.;
Rüther, K.;
Stoltenburg, G.;
Kohlschütter, A.;
Hübner, C.;
Schuelke, M.

Publication type:

Article

Molecular analysis of the GNPTAB and GNPTG genes in 13 patients with mucolipidosis type II or type III – identification of eight novel mutations.

Published in:

Clinical Genetics, 2009, v. 76, n. 1, p. 76, doi. 10.1111/j.1399-0004.2009.01185.x

By:

Encarnação, M.;
Lacerda, L.;
Costa, R.;
Prata, M. J.;
Coutinho, M. F.;
Ribeiro, H.;
Lopes, L.;
Pineda, M.;
Ignatius, J.;
Galvez, H.;
Mustonen, A.;
Vieira, P.;
Lima, M. R.;
Alves, S.

Publication type:

Article

HDR (Hypoparathyroidism, Deafness, Renal dysplasia) syndrome associated to GATA3 gene duplication.

Published in:

2009

By:

Bernardini, L.;
Sinibaldi, L.;
Capalbo, A.;
Bottillo, I.;
Mancuso, B.;
Torres, B.;
Novelli, A.;
Digilio, M. C.;
Dallapiccola, B.

Publication type:

Letter

A double homozygous mutation in the POMT1 gene involving exon skipping gives rise to Walker-Warburg syndrome in two Spanish Gypsy families.

Published in:

Clinical Genetics, 2009, v. 76, n. 1, p. 108, doi. 10.1111/j.1399-0004.2009.01188.x

By:

Cotarelo, R. P.;
Fano, O.;
Raducu, M.;
Peña, A.;
Tarilonte, P.;
Mateos, F.;
Simón, R.;
Cabello, A.;
Cruces, J.

Publication type:

Article

A child cohort study from southern Italy enlarges the genetic spectrum of hypertrophic cardiomyopathy.

Published in:

Clinical Genetics, 2009, v. 76, n. 1, p. 91, doi. 10.1111/j.1399-0004.2009.01190.x

By:

Frisso, G.;
Limongelli, G.;
Pacileo, G.;
Del Giudice, A.;
Forgione, L.;
Calabrò, P.;
Iacomino, M.;
Detta, N.;
Di Fonzo, L. M.;
Maddaloni, V.;
Calabrò, R.;
Salvatore, F.

Publication type:

Article

Homozygous feature of isolated triphalangeal thumb–preaxial polydactyly linked to 7q36: no phenotypic difference between homozygotes and heterozygotes.

Published in:

Clinical Genetics, 2009, v. 76, n. 1, p. 85, doi. 10.1111/j.1399-0004.2009.01192.x

By:

Semerci, C. N.;
Demirkan, F.;
Özdemir, M.;
Biskin, E.;
Akin, B.;
Bagci, H.;
Akarsu, N. A.

Publication type:

Article

Neuromuscular features in Marfan syndrome.

Published in:

Clinical Genetics, 2009, v. 76, n. 1, p. 25, doi. 10.1111/j.1399-0004.2009.01197.x

By:

Voermans, N. C.;
Timmermans, J.;
van Alfen, N.;
Pillen, S.;
op den Akker, J.;
Lammens, M.;
Zwarts, M. J.;
van Rooij, I. A. L. M.;
Hamel, B. C.;
van Engelen, B. G.

Publication type:

Article

Review of the Lynch syndrome: history, molecular genetics, screening, differential diagnosis, and medicolegal ramifications.

Published in:

Clinical Genetics, 2009, v. 76, n. 1, p. 1, doi. 10.1111/j.1399-0004.2009.01230.x

By:

Lynch, H. T.;
Lynch, P. M.;
Lanspa, S. J.;
Snyder, C. L.;
Lynch, J. F.;
Boland, C. R.

Publication type:

Article

Dynactin mutations and promises for neurodegenerative pathology.

Published in:

Clinical Genetics, 2009, v. 76, n. 1, p. 19, doi. 10.1111/j.1399-0004.2009.01231_1.x

By:

Stein, R. A

Publication type:

Article

An important risk factor in idiopathic generalized epilepsies.

Published in:

Clinical Genetics, 2009, v. 76, n. 1, p. 21, doi. 10.1111/j.1399-0004.2009.01231_2.x

By:

Stein, R. A.

Publication type:

Article