Works matching IS 00099163 AND DT 2010 AND VI 78 AND IP 5

Results: 19

Refining the phenotype associated with MEF2C haploinsufficiency.

Published in:

Clinical Genetics, 2010, v. 78, n. 5, p. 471, doi. 10.1111/j.1399-0004.2010.01413.x

By:

Novara, F.;
Beri, S.;
Giorda, R.;
Ortibus, E.;
Nageshappa, S.;
Darra, F.;
dalla Bernardina, B.;
Zuffardi, O.;
Van Esch, H.

Publication type:

Article

A large cohort study of GJB2 mutations in Japanese hearing loss patients.

Published in:

Clinical Genetics, 2010, v. 78, n. 5, p. 464, doi. 10.1111/j.1399-0004.2010.01407.x

By:

Tsukada, K.;
Nishio, S.;
Usami, S.

Publication type:

Article

Nature vs nurture: genetic susceptibility and weight loss in hepatic steatosis.

Published in:

Clinical Genetics, 2010, v. 78, n. 5, p. 422, doi. 10.1111/j.1399-0004.2010.01519_3.x

By:

Huang, K.

Publication type:

Article

Yet another gene mutation: dysfunction in mitochondrial protein quality control causing hereditary ataxia.

Published in:

Clinical Genetics, 2010, v. 78, n. 5, p. 420, doi. 10.1111/j.1399-0004.2010.01519_2.x

By:

Huang, K.

Publication type:

Article

Molecular characterization of five patients with homocystinuria due to severe methylenetetrahydrofolate reductase deficiency.

Published in:

Clinical Genetics, 2010, v. 78, n. 5, p. 441, doi. 10.1111/j.1399-0004.2010.01391.x

By:

Urreizti, R.;
Moya-García, A. A.;
Pino-Ángeles, A.;
Cozar, M.;
Langkilde, A.;
Fanhoe, U.;
Esteves, C.;
Arribas, J.;
Vilaseca, M. A.;
Pérez-Dueñas, B.;
Pineda, M.;
González, V.;
Artuch, R.;
Baldellou, A.;
Vilarinho, L.;
Fowler, B.;
Ribes, A.;
Sánchez-Jiménez, F.;
Grinberg, D.;
Balcells, S.

Publication type:

Article

Identification and molecular characterization of two novel chromosomal deletions associated with autism.

Published in:

Clinical Genetics, 2010, v. 78, n. 5, p. 449, doi. 10.1111/j.1399-0004.2010.01395.x

By:

Chien, W.-H.;
Gau, S. S.-F.;
Wu, Y.-Y.;
Huang, Y.-S.;
Fang, J.-S.;
Chen, Y.-J.;
Soong, W.-T.;
Chiu, Y.-N.;
Chen, C.-H.

Publication type:

Article

Mapping of three novel loci for non-syndromic autosomal recessive mental retardation (NS-ARMR) in consanguineous families from Pakistan.

Published in:

Clinical Genetics, 2010, v. 78, n. 5, p. 478, doi. 10.1111/j.1399-0004.2010.01405.x

By:

Rafiq, M. A.;
Ansar, M.;
Marshall, C. R.;
Noor, A.;
Shaheen, N.;
Mowjoodi, A.;
Khan, M. A.;
Ali, G.;
Amin-ud-Din, M.;
Feuk, L.;
Vincent, J. B.;
Scherer, S. W.

Publication type:

Article

The role of germline AIP, MEN1, PRKAR1A, CDKN1B and CDKN2C mutations in causing pituitary adenomas in a large cohort of children, adolescents, and patients with genetic syndromes.

Published in:

Clinical Genetics, 2010, v. 78, n. 5, p. 457, doi. 10.1111/j.1399-0004.2010.01406.x

By:

Stratakis, C. A.;
Tichomirowa, M. A.;
Boikos, S.;
Azevedo, M. F.;
Lodish, M.;
Martari, M.;
Verma, S.;
Daly, A. F.;
Raygada, M.;
Keil, M. F.;
Papademetriou, J.;
Drori-Herishanu, L.;
Horvath, A.;
Tsang, K. M.;
Nesterova, M.;
Franklin, S.;
Vanbellinghen, J.-F.;
Bours, V.;
Salvatori, R.;
Beckers, A.

Publication type:

Article

Novel splice-site mutations and a large intragenic deletion in PLA2G6 associated with a severe and rapidly progressive form of infantile neuroaxonal dystrophy.

Published in:

Clinical Genetics, 2010, v. 78, n. 5, p. 432, doi. 10.1111/j.1399-0004.2010.01417.x

By:

Tonelli, A.;
Romaniello, R.;
Grasso, R.;
Cavallini, A.;
Righini, A.;
Bresolin, N.;
Borgatti, R.;
Bassi, M. T.

Publication type:

Article

Hereditary hemorrhagic telangiectasia: two distinct ENG deletions in one family.

Published in:

Clinical Genetics, 2010, v. 78, n. 5, p. 484, doi. 10.1111/j.1399-0004.2010.01418.x

By:

Wooderchak, W.;
Gedge, F.;
McDonald, M.;
Krautscheid, P.;
Wang, X.;
Malkiewicz, J.;
Bukjiok, C. J.;
Lewis, T.;
Bayrak-Toydemir, P.

Publication type:

Article

PALB2 mutations in European familial pancreatic cancer families.

Published in:

Clinical Genetics, 2010, v. 78, n. 5, p. 490, doi. 10.1111/j.1399-0004.2010.01425.x

By:

Slater, E. P.;
Langer, P.;
Niemczyk, E.;
Strauch, K.;
Butler, J.;
Habbe, N.;
Neoptolemos, J. P.;
Greenhalf, W.;
Bartsch, D. K.

Publication type:

Article

Thromboembolism and coumarin overdosage in a 19-year-old female: impact of pharmacogenetics.

Published in:

Clinical Genetics, 2010, v. 78, n. 5, p. 499, doi. 10.1111/j.1399-0004.2010.01477.x

By:

Brenner, C.;
Huber, B.;
Becker, A.;
Ostermann, H.;
Becker, C.;
Steinbeck, G.;
Franz, W.-M.

Publication type:

Article

A founder mutation in BBS2 is responsible for Bardet-Biedl syndrome in the Hutterite population: utility of SNP arrays in genetically heterogeneous disorders.

Published in:

Clinical Genetics, 2010, v. 78, n. 5, p. 424, doi. 10.1111/j.1399-0004.2010.01481.x

By:

Innes, A. M.;
Boycott, K. M.;
Puffenberger, E. G.;
Redl, D.;
MacDonald, I. M.;
Chudley, A. E.;
Beaulieu, C.;
Perrier, R.;
Gillan, T.;
Wade, A.;
Parboosingh, J. S.

Publication type:

Article

Identification of a novel mutation in the human PDE6A gene in autosomal recessive retinitis pigmentosa: homology with the nmf28/nmf28 mice model.

Published in:

Clinical Genetics, 2010, v. 78, n. 5, p. 495, doi. 10.1111/j.1399-0004.2010.01487.x

By:

Corton, M.;
Blanco, M. J.;
Torres, M.;
Sanchez-Salorio, M.;
Carracedo, A.;
Brion, M.

Publication type:

Article

Variable number of tandem repeat polymorphisms (VNTRs) in the ACAN gene associated with pectus excavatum.

Published in:

Clinical Genetics, 2010, v. 78, n. 5, p. 502, doi. 10.1111/j.1399-0004.2010.01492.x

By:

Stacey, M. W.;
Neumann, S. A.;
Dooley, A.;
Segna, K.;
Kelly, R. E.;
Nuss, D.;
Kuhn, A. M.;
Goretsky, M. J.;
Fecteau, A. H.;
Pastor, A.;
Proud, V. K.

Publication type:

Article

Patient satisfaction and cancer-related distress among unselected Jewish women undergoing genetic testing for BRCA1 and BRCA2.

Published in:

Clinical Genetics, 2010, v. 78, n. 5, p. 411, doi. 10.1111/j.1399-0004.2010.01499.x

By:

Metcalfe, K. A.;
Poll, A.;
Llacuachaqui, M.;
Nanda, S.;
Tulman, A.;
Mian, N.;
Sun, P.;
Narod, S. A.

Publication type:

Article

DNA repair deficiency in a newly identified neurological disease.

Published in:

Clinical Genetics, 2010, v. 78, n. 5, p. 418, doi. 10.1111/j.1399-0004.2010.01519_1.x

By:

Huang, K.

Publication type:

Article

Erratum.

Published in:: 2010
Publication type:: Correction Notice

Leena Peltonen-Palotie (1952-2010) A renaissance woman of science.

Published in:

2010

By:

Pajukanta, Päivi

Publication type:

Obituary