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
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
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
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
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
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
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
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
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
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
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
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
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
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