Works matching IS 03406717 AND DT 2000 AND VI 106 AND IP 1

Results: 21

Complete genomic organization of the human JAK3 gene and mutation analysis in severe combined immunodeficiency by single-strand conformation polymorphism.

Published in:

Human Genetics, 2000, v. 106, n. 1, p. 73, doi. 10.1007/s004390051012

By:

Schumacher, Richard F.;
Mella, Patrizia;
Badolato, Raffaele;
Fiorini, Maurilia;
Savoldi, Gianfranco;
Giliani, Silvia;
Villa, Anna;
Candotti, Fabio;
Tampalini, Andrea;
O'Shea, John J.;
Notarangelo, Luigi D.

Publication type:

Article

Physical mapping of the human ATX1 homologue (HAH1) to the critical region of the 5q- syndrome within 5q32, and immediately adjacent to the SPARC gene.

Published in:

Human Genetics, 2000, v. 106, n. 1, p. 127, doi. 10.1007/s004390051020

By:

Boultwood, Jacqueline;
Strickson, Amanda J.;
Jabs, Ethylin W.;
Jan-Fang Cheng;
Fidler, Carrie;
Wainscoat, James S.

Publication type:

Article

An Alu-mediated large deletion of the FUT2 gene in individuals with the ABO-Bombay phenotype.

Published in:

Human Genetics, 2000, v. 106, n. 1, p. 80, doi. 10.1007/s004390051013

By:

Koda, Yoshiro;
Soejima, Mikiko;
Johnson, Philip H.;
Smart, Elizabeth;
Kimura, Hiroshi

Publication type:

Article

Evidence that a dodecamer duplication in the gene HOPA in Xq13 is not associated with mental retardation.

Published in:

Human Genetics, 2000, v. 106, n. 1, p. 36, doi. 10.1007/s004390051006

By:

Friez, Michael J.;
Essop, Fahmida B.;
Krause, Amanda;
Castiglia, Lucia;
Ragusa, Angela;
Sossey-Alaoui, Khalid;
Nelson, Retecher L.;
May, Melanie M.;
Michaelis, Ron C.;
Srivastava, Anand K.;
Schwartz, Charles E.;
Stevenson, Roger E.;
Goldman, Andrea;
Villard, Laurent;
Longshore, John W.

Publication type:

Article

The prevalence and expression of inherited connexin 26 mutations associated with nonsyndromic hearing loss in the Israeli population.

Published in:

Human Genetics, 2000, v. 106, n. 1, p. 50, doi. 10.1007/s004390051009

By:

Sobe, Tama;
Vreugde, Sarah;
Shahin, Hashem;
Berlin, Mira;
Davis, Noa;
Kanaan, Moien;
Yaron, Yuval;
Orr-Urtreger, Avi;
Frydman, Moshe;
Shohat, Mordechai;
Avraham, Karen B.

Publication type:

Article

Origin and implication of the hereditary pancreatitis-associated N21I mutation in the cationic trypsinogen gene.

Published in:

Human Genetics, 2000, v. 106, n. 1, p. 125, doi. 10.1007/s004390051019

By:

Jian-Min Chen;
Ferec, Claude

Publication type:

Article

Congenital cataracts: gene mapping.

Published in:

Human Genetics, 2000, v. 106, n. 1, p. 1, doi. 10.1007/s004390051002

By:

Weigong He;
Shibo Li

Publication type:

Article

Detection of male and female fetal DNA in maternal plasma by multiplex fluorescent polymerase chain reaction amplification of short tandem repeats.

Published in:

Human Genetics, 2000, v. 106, n. 1, p. 45, doi. 10.1007/s004390051008

By:

Pertl, Barbara;
Sekizawa, Akihiko;
Samura, Osamu;
Orescovic, Irmgard;
Rahaim, Peter T.;
Bianchi, Diana W.

Publication type:

Article

Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene.

Published in:

Human Genetics, 2000, v. 106, n. 1, p. 40, doi. 10.1007/s004390051007

By:

Rabionet, Raquel;
Zelante, Leopoldo;
López-Bigas, Núria;
D'Agruma, Leonardo;
Melchionda, Salvatore;
Restagno, Gabrielle;
Arbonés, Maria Lourdes;
Gasparini, Paolo;
Estivill, Xavier

Publication type:

Article

Partial COL1A2 gene duplication produces features of osteogenesis imperfecta and Ehlers-Danlos syndrome type VII.

Published in:

Human Genetics, 2000, v. 106, n. 1, p. 19, doi. 10.1007/s004390051004

By:

Raff, Michael L.;
Craigen, William J.;
Smith, Lynne T.;
Keene, Douglas R.;
Byers, Peter H.

Publication type:

Article

Genomic rearrangements of the APC tumor-suppressor gene in familial adenomatous polyposis.

Published in:

Human Genetics, 2000, v. 106, n. 1, p. 101, doi. 10.1007/s004399900195

By:

Li-Kuo Su;
Steinbach, Gideon;
Sawyer, Jill C.;
Hindi, Mustafa;
Ward, Patricia A.;
Lynch, Patrick M.

Publication type:

Article

Seven ring (X) chromosomes lacking the XIST locus, six with an unexpectedly mild phenotype.

Published in:

Human Genetics, 2000, v. 106, n. 1, p. 93, doi. 10.1007/s004390051015

By:

Turner, Caroline;
Dennis, Nicholas R.;
Skuse, David H.;
Jacobs, Patricia A.

Publication type:

Article

Fine-mapping of the type 1 diabetes locus (IDDM4) on chromosome 11q and evaluation of two candidate genes (FADD and GALN) by affected sibpair and linkage-disequilibrium analyses.

Published in:

Human Genetics, 2000, v. 106, n. 1, p. 14, doi. 10.1007/s004399900186

By:

Eckenrode, Sarah;
Marron, Michele P.;
Nicholls, Robert;
Yang, Mark C.K.;
Yang, James J.;
Guida Fonseca, Leticia C.;
Jin-Xiong She

Publication type:

Article

Genetic distances and microsatellite diversification in humans.

Published in:

Human Genetics, 2000, v. 106, n. 1, p. 133, doi. 10.1007/s004399900204

By:

Calafell, Francesc;
Pérez-Lezaun, Anna;
Bertranpetit, Jaume

Publication type:

Article

Genotype and phenotype analysis of Friedreich's ataxia compound heterozygous patients.

Published in:

Human Genetics, 2000, v. 106, n. 1, p. 86, doi. 10.1007/s004399900201

By:

De Castro, Marisol;
García-Planells, Javier;
Monrós, Eugènia;
Cañizares, Joaquín;
Vázquez-Manrique, Rafael;
Vílchez, Juan J.;
Urtasun, Miguel;
Lucas, Miguel;
Navarro, Guillermo;
Izquierdo, Guillermo;
Moltó, Maria Dolores;
Palau, Francesc

Publication type:

Article

Linkage and LOH studies in 19 cylindromatosis families show no evidence of genetic heterogeneity and refine the CYLD locus on chromosome 16q12–q13.

Published in:

Human Genetics, 2000, v. 106, n. 1, p. 58, doi. 10.1007/s004399900227

By:

Takahashi, Meiko;
Rapley, Elizabeth;
Biggs, Patrick J.;
Lakhani, Sunil R;
Cooke, David;
Hansen, Juliana;
Blair, Edward;
Hofmann, B.;
Siebert, Reiner;
Turner, Gwen;
Evans, D. Gareth;
Schrander-Stumpel, C.;
Beemer, Frits A.;
van Vloten, Willem A.;
Breuning, Martijn H.;
van den Ouweland, Ans;
Halley, Dicky;
Delpech, Bertrand;
Cleveland, Mark;
Leigh, Irene

Publication type:

Article

Application of different genetic distance methods to microsatellite data.

Published in:

Human Genetics, 2000, v. 106, n. 1, p. 130, doi. 10.1007/s004399900203

By:

Destro-Bisol, Giovanni;
Spedini, Gabriella;
Pascali, Vincenzo L.

Publication type:

Article

Isolation of a paralog of the Doyne honeycomb retinal dystrophy gene from the multiple retinopathy critical region on 11q13.

Published in:

Human Genetics, 2000, v. 106, n. 1, p. 66, doi. 10.1007/s004390051011

By:

Katsanis, Nicholas;
Venable, Susan;
Smith, James R.;
Lupski, James R.

Publication type:

Article

Incidence of mosaic cell lines in vivo and malsegregation of chromosome 21 in lymphocytes in vitro of trisomy 21 patients: detection by fluorescence in situ hybridization on binucleated lymphocytes.

Published in:

Human Genetics, 2000, v. 106, n. 1, p. 29, doi. 10.1007/s004390051005

By:

Qinghua Shi;
Adler, Ilse-Dore;
Jianxuan Zhang;
Xiran Zhang;
Xiangnian Shan;
Martin, Renee

Publication type:

Article

Mutation and polymorphism analysis of the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor in congenital insensitivity to pain with anhidrosis (CIPA) families.

Published in:

Human Genetics, 2000, v. 106, n. 1, p. 116, doi. 10.1007/s004390051018

By:

Miura, Yuichi;
Mardy, Sek;
Awaya, Yutaka;
Nihei, Kenji;
Endo, Fumio;
Matsuda, Ichiro;
Indo, Yasuhiro

Publication type:

Article

Heterogeneous mutations in the glycogen-debranching enzyme gene are responsible for glycogen storage disease type IIIa in Japan.

Published in:

Human Genetics, 2000, v. 106, n. 1, p. 108, doi. 10.1007/s004390051017

By:

Okubo, Minoru;
Horinishi, Asako;
Takeuchi, Megumi;
Suzuki, Yoshimi;
Sakura, Nobuo;
Hasegawa, Yukihiro;
Igarashi, Tohru;
Goto, Kiyoshi;
Tahara, Hideki;
Uchimoto, Sadahiko;
Omichi, Kaoru;
Kanno, Hitoshi;
Hayasaka, Kiyoshi;
Murase, Toshio

Publication type:

Article