Works matching IS 00099163 AND DT 2003 AND VI 64 AND IP 1

Results: 15

Evidence that the Cys282Tyr mutation of the HFE gene originated from a population in Southern Scandinavia and spread with the Vikings.

Published in:

Clinical Genetics, 2003, v. 64, n. 1, p. 36, doi. 10.1034/j.1399-0004.2003.00083.x

By:

Milman, N;
Pedersen, P

Publication type:

Article

A cluster of autosomal recessive spondylocostal dysostosis caused by three newly identified DLL3 mutations segregating in a small village.

Published in:

Clinical Genetics, 2003, v. 64, n. 1, p. 28, doi. 10.1034/j.1399-0004.2003.00085.x

By:

Bonafé, L;
Giunta, C;
Gassner, M;
Steinmann, B;
Superti-Furga, A

Publication type:

Article

Overestimation of genetic risks owing to small sample sizes in cardiovascular studies.

Published in:

Clinical Genetics, 2003, v. 64, n. 1, p. 7, doi. 10.1034/j.1399-0004.2003.00088.x

By:

Morgan, TM;
Coffey, CS;
Krumholz, HM

Publication type:

Article

Tremor, ataxia and dementia in older men may indicate a carrier of the fragile X syndrome.

Published in:

Clinical Genetics, 2003, v. 64, n. 1, p. 54, doi. 10.1034/j.1399-0004.2003.00089.x

By:

Rogers, C;
Partington, MW;
Turner, GM

Publication type:

Article

Germline mutations of the MEN1 gene in Korean families with multiple endocrine neoplasia type 1 (MEN1) or MEN1-related disorders.

Published in:

Clinical Genetics, 2003, v. 64, n. 1, p. 48, doi. 10.1034/j.1399-0004.2003.00091.x

By:

Park, J-H;
Kim, I-J;
Kang, HC;
Lee, S-H;
Shin, Y;
Kim, K-H;
Lim, S-B;
Kang, S-B;
Lee, Ku;
Kim, SY;
Lee, M-S;
Lee, M-K;
Moon, S-D;
Park, J-G

Publication type:

Article

A quantitative polymerase chain reaction method for determining copy number within the Prader–Willi/Angelman syndrome critical region.

Published in:

Clinical Genetics, 2003, v. 64, n. 1, p. 76, doi. 10.1034/j.1399-0004.2003.00094.x

By:

Roberts, SE;
Thomas, NS

Publication type:

Article

A novel mutation in the TWIST gene, implicated in Saethre–Chotzen syndrome, is found in the original case of Robinow–Sorauf syndrome.

Published in:

Clinical Genetics, 2003, v. 64, n. 1, p. 79, doi. 10.1034/j.1399-0004.2003.00098.x

By:

Cai, J;
Shoo, BA;
Sorauf, T;
Wang Jabs, E

Publication type:

Article

Association of the myocilin mt.1 promoter variant with the worsening of glaucomatous disease over time.

Published in:

Clinical Genetics, 2003, v. 64, n. 1, p. 18, doi. 10.1034/j.1399-0004.2003.00099.x

By:

Polansky, JR;
Juster, RP;
Spaeth, GL

Publication type:

Article

Gaucher's disease: identification of novel mutant alleles and genotype–phenotype relationships.

Published in:

Clinical Genetics, 2003, v. 64, n. 1, p. 57, doi. 10.1034/j.1399-0004.2003.00100.x

By:

Zhao, H;
Keddache, M;
Bailey, L;
Arnold, Gl;
Grabowski, G

Publication type:

Article

Frequencies of gap- and tight-junction mutations in Turkish families with autosomal-recessive non-syndromic hearing loss.

Published in:

Clinical Genetics, 2003, v. 64, n. 1, p. 65, doi. 10.1034/j.1399-0004.2003.00101.x

By:

Uyguner, O;
Emiroglu, M;
Uzumcu, A;
Hafiz, G;
Ghanbari, A;
Baserer, N;
Yuksel-Apak, M;
Wollnik, B

Publication type:

Article

Semen cryoconservation in men with AZFc microdeletion.

Published in:

Clinical Genetics, 2003, v. 64, n. 1, p. 74, doi. 10.1034/j.1399-0004.2003.00104.x

By:

Dada, R;
Gupta, NP;
Kucheria, K

Publication type:

Article

XL PCR for the detection of large trinucleotide expansions in juvenile Huntington's disease.

Published in:

Clinical Genetics, 2003, v. 64, n. 1, p. 70, doi. 10.1034/j.1399-0004.2003.00108.x

By:

Milunsky, JM;
Maher, TA;
Loose, BA;
Darras, BT;
Ito, M

Publication type:

Article

Discoveries in sphingolipid metabolism, spinocerebellar ataxia and autoimmune disease.

Published in:

Clinical Genetics, 2003, v. 64, n. 1, p. 1, doi. 10.1034/j.1399-0004.2003.00121.x

By:

Brunham, Liam R;
Chan, Edmond YW;
Orban, Paul C;
Levings, Megan K

Publication type:

Article

Discoveries in sphingolipid metabolism, spinocerebellar ataxia and autoimmune disease: A new mechanism for spinocerebellar ataxia involving mutations in protein kinase Cγ.

Published in:

Clinical Genetics, 2003, v. 64, n. 1, p. 3, doi. 10.1034/j.1399-0004.2003.t01-1-00121.x

By:

Chan, Edmond YW

Publication type:

Article

Discoveries in sphingolipid metabolism, spinocerebellar ataxia and autoimmune disease: Can we throw the master-switch in autoimmune disease?

Published in:

Clinical Genetics, 2003, v. 64, n. 1, p. 5, doi. 10.1034/j.1399-0004.2003.t01-2-00121.x

By:

Orban, Paul C;
Levings, Megan K

Publication type:

Article