Works matching IS 00099163 AND DT 2007 AND VI 71 AND IP 5

Results: 15

The Huntington’s Disease quality of life battery for carers: reliability and validity.

Published in:

Clinical Genetics, 2007, v. 71, n. 5, p. 434, doi. 10.1111/j.1399-0004.2007.00784.x

By:

Aubeeluck, A.;
Buchanan, H.

Publication type:

Article

Single-nucleotide polymorphisms in the COL1A1 regulatory regions are associated with otosclerosis.

Published in:

Clinical Genetics, 2007, v. 71, n. 5, p. 406, doi. 10.1111/j.1399-0004.2007.00794.x

By:

Chen, W.;
Meyer, N. C.;
McKenna, M. J.;
Pfister, M.;
McBride, D. J.;
Fukushima, K.;
Thys, M.;
Camp, G. V.;
Smith, R. J. H.

Publication type:

Article

Current status of thalassemia in minority populations in Guangxi, China.

Published in:

Clinical Genetics, 2007, v. 71, n. 5, p. 419, doi. 10.1111/j.1399-0004.2007.00791.x

By:

Pan, H. F.;
Long, G. F.;
Li, Q.;
Feng, Y. N.;
Lei, Z. Y.;
Wei, H. W.;
Huang, Y. Y.;
Huang, J. H.;
Lin, N.;
Xu, Q. Q.;
Ling, S. Y.;
Chen, X. J.;
Huang, T.

Publication type:

Article

The Ala53Thr mutation in the α-synuclein gene in a Korean family with Parkinson disease.

Published in:

2007

By:

Ki, C-S.;
Stavrou, E. F.;
Davanos, N.;
Lee, W. Y.;
Chung, E. J.;
Kim, J-Y.;
Athanassiadou, A.

Publication type:

Letter

Germline mutations in APC and MUTYH are responsible for the majority of families with attenuated familial adenomatous polyposis.

Published in:

Clinical Genetics, 2007, v. 71, n. 5, p. 427, doi. 10.1111/j.1399-0004.2007.00766.x

By:

Nielsen, M.;
Hes, F. J.;
Nagengast, F. M.;
Weiss, M. M.;
Mathus-Vliegen, E. M.;
Morreau, H.;
Breuning, M. H.;
Wijnen, J. T.;
Tops, C. M. J.;
Vasen, H. F. A.

Publication type:

Article

Genetic counselling and consent for tumour testing in HNPCC.

Published in:

Clinical Genetics, 2007, v. 71, n. 5, p. 400, doi. 10.1111/j.1399-0004.2007.00779.x

By:

Gaff, C. L.;
Rogers, M. T.;
Frayling, I. M.

Publication type:

Article

RMRP mutations in hematological disorders.

Published in:

2007

By:

Graf, S. A.;
Calado, R. T.;
Kajigaya, S.;
Young, N. S.

Publication type:

Letter

MEFV alterations and population genetics analysis in a large cohort of Greek patients with familial Mediterranean fever.

Published in:

Clinical Genetics, 2007, v. 71, n. 5, p. 458, doi. 10.1111/j.1399-0004.2007.00789.x

By:

Giaglis, S.;
Papadopoulos, V.;
Kambas, K.;
Doumas, M.;
Tsironidou, V.;
Rafail, S.;
Kartalis, G.;
Speletas, M.;
Ritis, K.

Publication type:

Article

Clinical findings and molecular characterization of six subtelomeric imbalances.

Published in:

2007

By:

Alonso, Carmen Orellana;
Monfort, S.;
Roselló, M.;
Oltra, S.;
Martínez, F.

Publication type:

Letter

Newborn screening for mucopolysaccharidoses: opinions of patients and their families.

Published in:

Clinical Genetics, 2007, v. 71, n. 5, p. 446, doi. 10.1111/j.1399-0004.2007.00783.x

By:

Hayes, I. M.;
Collins, V.;
Sahhar, M.;
Wraith, J. E.;
Delatycki, M. B.

Publication type:

Article

Contribution of the CFTR gene, the pancreatic secretory trypsin inhibitor gene ( SPINK1) and the cationic trypsinogen gene ( PRSS1) to the etiology of recurrent pancreatitis.

Published in:

Clinical Genetics, 2007, v. 71, n. 5, p. 451, doi. 10.1111/j.1399-0004.2007.00788.x

By:

Tzetis, M.;
Kaliakatsos, M.;
Fotoulaki, M.;
Papatheodorou, A.;
Doudounakis, S.;
Tsezou, A.;
Makrythanasis, P.;
Kanavakis, E.;
Nousia-Arvanitakis, S.

Publication type:

Article

An overview of isolated and syndromic oesophageal atresia.

Published in:

Clinical Genetics, 2007, v. 71, n. 5, p. 392, doi. 10.1111/j.1399-0004.2007.00798.x

By:

Geneviève, D.;
de Pontual, L.;
Amiel, J.;
Sarnacki, S.;
Lyonnet, S.

Publication type:

Article

The common genetic variant upstream of INSIG2 gene is not associated with obesity in Indian population.

Published in:

Clinical Genetics, 2007, v. 71, n. 5, p. 415, doi. 10.1111/j.1399-0004.2007.00795.x

By:

Kumar, J.;
Sunkishala, R. R.;
Karthikeyan, G.;
Sengupta, S.

Publication type:

Article

Mitochondrial deafness.

Published in:

Clinical Genetics, 2007, v. 71, n. 5, p. 379, doi. 10.1111/j.1399-0004.2007.00800.x

By:

Kokotas, H.;
Petersen, M. B.;
Willems, P. J.

Publication type:

Article

A new familial mutation (R133G) in the SRY gene.

Published in:

2007

By:

Plaseska-Karanfilska, D.;
Noveski, P.;
Kuzevska, K.;
Basheska, N.;
Kocova, M.;
Efremov, G. D.

Publication type:

Letter