Works matching IS 03406717 AND DT 2001 AND VI 108 AND IP 2

Results: 13

Isolation and characterization of the UBASH3A gene on 21q22.3 encoding a potential nuclear protein with a novel combination of domains.

Published in:

Human Genetics, 2001, v. 108, n. 2, p. 140, doi. 10.1007/s004390000453

By:

Wattenhofer, Marie;
Shibuya, Kazunori;
Kudoh, Jun;
Lyle, Robert;
Michaud, Joelle;
Rossier, Colette;
Kawasaki, Kazuhiko;
Asakawa, Shuichi;
Minoshima, Shinsei;
Berry, Asher;
Bonne-Tamir, Batsheva;
Shimizu, Nobuyoshi;
Antonarakis, Stylianos;
Scott, Hamish

Publication type:

Article

Marked differences in unilateral isolated retinoblastomas from young and older children studied by comparative genomic hybridization.

Published in:

Human Genetics, 2001, v. 108, n. 2, p. 98, doi. 10.1007/s004390000450

By:

Herzog, Susanne;
Lohmann, Dietmar R.;
Buiting, Karin;
Schüler, Andreas;
Horsthemke, Bernhard;
Rehder, Helga;
Rieder, Harald

Publication type:

Article

Neonatal presentation of adult-onset type II citrullinemia.

Published in:

Human Genetics, 2001, v. 108, n. 2, p. 87, doi. 10.1007/s004390000448

By:

Ohura, Toshihiro;
Kobayashi, Keiko;
Tazawa, Yusaku;
Nishi, Ikumi;
Abukawa, Daiki;
Sakamoto, Osamu;
Iinuma, Kazuie;
Saheki, Takeyori

Publication type:

Article

A summary of 20 CACNA1F mutations identified in 36 families with incomplete X-linked congenital stationary night blindness, and characterization of splice variants.

Published in:

Human Genetics, 2001, v. 108, n. 2, p. 91, doi. 10.1007/s004390100461

By:

Boycott, Kym M.;
Maybaum, Tracy A.;
Naylor, Margaret J.;
Weleber, Richard G.;
Robitaille, Johane;
Miyake, Yozo;
Bergen, Arthur A. B.;
Pierpont, Mary Ella;
Pearce, William G.;
Bech-Hansen, N. Torben

Publication type:

Article

Numerical chromosome abnormalities in the spermatozoa of the fathers of children with trisomy 21 of paternal origin: generalised tendency to meiotic non-disjunction.

Published in:

Human Genetics, 2001, v. 108, n. 2, p. 134, doi. 10.1007/s004390000449

By:

Soares, Sérgio Reis;
Templado, Cristina;
Blanco, Joan;
Egozcue, Josep;
Vidal, Francesca

Publication type:

Article

Quantitation of fetal DNA in maternal serum in normal and aneuploid pregnancies.

Published in:

Human Genetics, 2001, v. 108, n. 2, p. 123, doi. 10.1007/s004390100457

By:

Ohashi, Yoko;
Miharu, Norio;
Honda, Hiroshi;
Samura, Osamu;
Ohama, Koso

Publication type:

Article

Hybrids monosomal for human chromosome 5 reveal the presence of a spinal muscular atrophy (SMA) carrier with two SMN1 copies on one chromosome.

Published in:

Human Genetics, 2001, v. 108, n. 2, p. 109, doi. 10.1007/s004390000446

By:

Mailman, Matthew D.;
Hemingway, Tamara;
Darsey, Rebecca L.;
Glasure, Carol E.;
Ying Huang;
Chadwick, Robert B.;
Heinz, John W.;
Papp, Audrey C.;
Snyder, Pamela J.;
Sedra, Mary S.;
Schafer, Robert W.;
Abuelo, Dianne N.;
Reich, Elsa W.;
Theil, Karl S.;
Burghes, Arthur H. M.;
de la Chapelle, Albert;
Prior, Thomas W.

Publication type:

Article

Characterization of new mutations in the coding sequence and 5'-untranslated region of the human prostacyclin synthase gene (CYP8A1).

Published in:

Human Genetics, 2001, v. 108, n. 2, p. 148, doi. 10.1007/s004390000444

By:

Chevalier, Dany;
Cauffiez, Christelle;
Bernard, Claudine;
Lo-Guidice, Jean-Marc;
Allorge, Delphine;
Fazio, Fanny;
Ferrari, Nicolas;
Libersa, Christian;
Lhermitte, Michel;
D'Halluin, Jean-Claude;
Broly, Franck

Publication type:

Article

Polymorphism in promoter region of Fcα receptor gene in patients with IgA nephropathy.

Published in:

Human Genetics, 2001, v. 108, n. 2, p. 128, doi. 10.1007/s004390100458

By:

Tsuge, Toshinao;
Shimokawa, Toshibumi;
Horikoshi, Satoshi;
Tomino, Yasuhiko;
Ra, Chisei

Publication type:

Article

Clonal maintenance of imprinted expression of SNRPN and IPW in normal lymphocytes: correlation with allele-specific methylation of SNRPN intron 1 but not intron 7.

Published in:

Human Genetics, 2001, v. 108, n. 2, p. 116, doi. 10.1007/s004390000455

By:

Balmer, Damina;
LaSalle, Janine M.

Publication type:

Article

Lack of association between α2-macroglobulin polymorphisms and Alzheimer's disease.

Published in:

Human Genetics, 2001, v. 108, n. 2, p. 105, doi. 10.1007/s004390000445

By:

Xiaoyan Wang;
Luedecking, Erin K.;
Minster, Ryan L.;
Ganguli, Mary;
DeKosky, Steven T.;
Kamboh, M. Ilyas

Publication type:

Article

Back mutation can produce phenotype reversion in Bloom syndrome somatic cells.

Published in:

Human Genetics, 2001, v. 108, n. 2, p. 167, doi. 10.1007/s004390000447

By:

Ellis, Nathan A.;
Ciocci, Susan;
German, James

Publication type:

Article

TSC1 and TSC2 deletions differ in size, preference for recombinatorial sequences, and location within the gene.

Published in:

Human Genetics, 2001, v. 108, n. 2, p. 156, doi. 10.1007/s004390100460

By:

Longa, Lucia;
Saluto, Alessandro;
Brusco, Alfredo;
Polidoro, Silvia;
Padovan, Sergio;
Allavena, Anna;
Carbonara, Caterina;
Grosso, Enrico;
Migone, Nicola

Publication type:

Article