Works matching IS 03406717 AND DT 2000 AND VI 106 AND IP 5

Results: 14

Interchromosomal effects for chromosome 21 in carriers of structural chromosome reorganizations determined by fluorescence in situ hybridization on sperm nuclei.

Published in:

Human Genetics, 2000, v. 106, n. 5, p. 500, doi. 10.1007/s004390000295

By:

Blanco, Joan;
Egozcue, Josep;
Vidal, Francesca

Publication type:

Article

Analysis of genetic polymorphisms in the transforming growth factor-β1 gene and the risk of Alzheimer's disease.

Published in:

Human Genetics, 2000, v. 106, n. 5, p. 565, doi. 10.1007/s004390050026

By:

Luedecking, Erin K.;
DeKosky, Steven T.;
Mehdi, Haider;
Ganguli, Mary;
Kamboh, M. Ilyas

Publication type:

Article

Association of the low-density lipoprotein receptor gene with obesity in Native American populations.

Published in:

Human Genetics, 2000, v. 106, n. 5, p. 546, doi. 10.1007/s004390050023

By:

Mattevi, Vanessa S.;
Coimbra Jr., Carlos E. A.;
Santos, Ricardo V.;
Salzano, Francisco M.;
Hutz, Mara H.

Publication type:

Article

Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic.

Published in:

Human Genetics, 2000, v. 106, n. 5, p. 538, doi. 10.1007/s004390050022

By:

Imbach, Timo;
Grünewald, Stephanie;
Schenk, Barbara;
Burda, Patricie;
Schollen, Els;
Wevers, Ron A.;
Jaeken, Jaak;
de Klerk, Johannis B.C.;
Berger, Eric G.;
Matthijs, Gert;
Aebi, Markus;
Hennet, Thierry

Publication type:

Article

Variation in alphoid DNA size and trisomy 21: a possible cause of nondisjunction.

Published in:

Human Genetics, 2000, v. 106, n. 5, p. 525, doi. 10.1007/s004390050020

By:

Maratou, Klio;
Siddique, Yasmeen;
Kessling, Anna M.;
Davies, Gail E.

Publication type:

Article

A 5-base insertion in the γC-crystallin gene is associated with autosomal dominant variable zonular pulverulent cataract.

Published in:

Human Genetics, 2000, v. 106, n. 5, p. 531, doi. 10.1007/s004390050021

By:

Zhaoxia Ren;
Anren Li;
Shastry, Barker S.;
Padma, Tirunilai;
Ayyagari, Radha;
Scott, Mark H.;
Parks, Marshall M.;
Kaiser-Kupfer, Muriel I.;
Hejtmancik, J. Fielding

Publication type:

Article

Is there an interchromosomal effect in reciprocal translocation carriers? Sperm FISH studies.

Published in:

Human Genetics, 2000, v. 106, n. 5, p. 517, doi. 10.1007/s004390000275

By:

Estop, Anna M.;
Cieply, Kathy;
Munne, Santiago;
Surti, Urvashi;
Wakim, Anthony;
Feingold, Eleanor

Publication type:

Article

Splice-site mutation in TGM1 in congenital recessive ichthyosis in American families: molecular, genetic, genealogic, and clinical studies.

Published in:

Human Genetics, 2000, v. 106, n. 5, p. 492, doi. 10.1007/s004390000284

By:

Shevchenko, Yuriy O.;
Compton, John G.;
Toro, Jorge R.;
DiGiovanna, John J.;
Bale, Sherri J.

Publication type:

Article

Genetic basis of acanthosis nigricans in Mexican Americans and its association with phenotypes related to type 2 diabetes.

Published in:

Human Genetics, 2000, v. 106, n. 5, p. 467, doi. 10.1007/s004390000274

By:

Burke, James P.;
Duggirala, Ravindranath;
Hale, Daniel E.;
Blangero, John;
Stern, Michael P.

Publication type:

Article

Autosomal dominant macrothrombocytopenia with leukocyte inclusions (May-Hegglin anomaly) is linked to chromosome 22q12-13.

Published in:

Human Genetics, 2000, v. 106, n. 5, p. 557, doi. 10.1007/s004390050025

By:

Kelley, Michael J.;
Jawien, William;
Lin, Albert;
Hoffmeister, Karen;
Pugh, Elizabeth W.;
Doheny, Kimberly F.;
Korczak, Jeannette F.

Publication type:

Article

A genetic study of Hodgkin's lymphoma: an estimate of heritability and anticipation based on the familial cancer database in Sweden.

Published in:

Human Genetics, 2000, v. 106, n. 5, p. 553, doi. 10.1007/s004390050024

By:

Yin Yao Shugart;
Hemminki, Kari;
Vaittinen, Pauli;
Kingman, Albert;
Chuanhui Dong

Publication type:

Article

Statistical and mutational analysis of chronic granulomatous disease in Japan with special reference to gp91-phox and p22-phox deficiency.

Published in:

Human Genetics, 2000, v. 106, n. 5, p. 473, doi. 10.1007/s004390000288

By:

Ishibashi, Fuminari;
Nunoi, Hiroyuki;
Endo, Fumio;
Matsuda, Ichiro;
Kanegasaki, Shiro

Publication type:

Article

Fine mapping of the constitutional translocation t(11;22)(q23;q11).

Published in:

Human Genetics, 2000, v. 106, n. 5, p. 506, doi. 10.1007/s004390000287

By:

Tapia-Páez, Isabel;
O'Brien, Kevin P.;
Kost-Alimova, Maria;
Sahlén, Sigrid;
Kedra, Darek;
Bruder, Carl E. G.;
Andersson, Björn;
Roe, Bruce A.;
Ping Hu;
Imreh, Stephan;
Blennow, Elisabeth;
Dumanski, Jan P.

Publication type:

Article

The mutation of Pro<sup>789</sup> to Leu reduces the activity of the fast-twitch skeletal muscle sarco(endo)plasmic reticulum Ca<sup>2+</sup> ATPase (SERCA1) and is associated with Brody disease.

Published in:

Human Genetics, 2000, v. 106, n. 5, p. 482, doi. 10.1007/s004390000297

By:

Odermatt, Alex;
Barton, Kimby;
Khanna, Vijay K.;
Mathieu, Jean;
Escolar, Diana;
Kuntzer, Thierry;
Karpati, George;
MacLennan, David H.

Publication type:

Article