Works matching IS 03406717 AND DT 2001 AND VI 108 AND IP 6

Results: 17

Preimplantation genetic diagnosis for spinal and bulbar muscular atrophy (SBMA).

Published in:

Human Genetics, 2001, v. 108, n. 6, p. 494, doi. 10.1007/s004390100534

By:

Georgiou, Ioannis;
Sermon, Karen;
Lissens, Willy;
De Vos, Anick;
Platteau, Peter;
Lolis, Dimitrios;
Van Steirteghem, Andre;
Liebaers, Inge

Publication type:

Article

The genes for the human VPS10 domain-containing receptors are large and contain many small exons.

Published in:

Human Genetics, 2001, v. 108, n. 6, p. 529, doi. 10.1007/s004390100504

By:

Hampe, Wolfgang;
Rezgaoui, Meriem;
Hermans-Borgmeyer, Irm;
Schaller, H. Chica

Publication type:

Article

Interaction between the melanocortin-1 receptor and P genes contributes to inter-individual variation in skin pigmentation phenotypes in a Tibetan population.

Published in:

Human Genetics, 2001, v. 108, n. 6, p. 516, doi. 10.1007/s004390100524

By:

Akey, Joshua M.;
Hong Wang;
Momiao Xiong;
Hong Wu;
Weida Liu;
Shriver, Mark D.;
Li Jin

Publication type:

Article

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

Published in:

2001

By:

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

Publication type:

Erratum

A 1.1-kb duplication in the p67-phox gene causes chronic granulomatous disease.

Published in:

Human Genetics, 2001, v. 108, n. 6, p. 504, doi. 10.1007/s004390100526

By:

Borgato, Lorena;
Bonizzato, Alberto;
Lunardi, Claudio;
Dusi, Stefano;
Andrioli, Giuseppe;
Scarperi, Anna;
Corrocher, Roberto

Publication type:

Article

Improved definition of chromosomal breakpoints using high-resolution multicolour banding.

Published in:

Human Genetics, 2001, v. 108, n. 6, p. 478, doi. 10.1007/s004390100502

By:

Lemke, Johannes;
Chudoba, Ilse;
Senger, Gabriele;
Stumm, Markus;
Loncarevic, Ivan F.;
Henry, Cathérine;
Zabel, Bernd;
Claussen, Uwe

Publication type:

Article

Physical and transcriptional mapping of the X-linked cleft palate and ankyloglossia (CPX) critical region.

Published in:

Human Genetics, 2001, v. 108, n. 6, p. 537, doi. 10.1007/s004390100518

By:

Braybrook, Claire;
Warry, Georgina;
Howell, Gareth;
Mandryko, Vanessa;
Arnason, Alfred;
Bjornsson, Arni;
Ross, Mark T.;
Moore, Gudrun E.;
Stanier, Philip

Publication type:

Article

Analyses of genetic abnormalities in type I CD36 deficiency in Japan: identification and cell biological characterization of two novel mutations that cause CD36 deficiency in man.

Published in:

Human Genetics, 2001, v. 108, n. 6, p. 459, doi. 10.1007/s004390100525

By:

Kashiwagi, Hirokazu;
Tomiyama, Yoshiaki;
Nozaki, Shuichi;
Kiyoi, Teruo;
Tadokoro, Seiji;
Matsumoto, Kengo;
Honda, Shigenori;
Kosugi, Satoru;
Kurata, Yoshiyuki;
Matsuzawa, Yuji

Publication type:

Article

Evaluation of the fragile X (FRAXA) syndrome with methylation-sensitive PCR.

Published in:

Human Genetics, 2001, v. 108, n. 6, p. 450, doi. 10.1007/s004390100519

By:

Weinhäusel, Andreas;
Haas, Oskar A.

Publication type:

Article

Distribution of glucose-6-phosphate dehydrogenase mutations in Southeast Asia.

Published in:

Human Genetics, 2001, v. 108, n. 6, p. 445, doi. 10.1007/s004390100527

By:

Iwai, Kuni;
Hirono, Akira;
Matsuoka, Hiroyuki;
Kawamoto, Fumihiko;
Horie, Toru;
Khin Lin;
Tantular, Indah S.;
Dachlan, Yoes P.;
Notopuro, Harsono;
Hidayah, Noor I.;
Salim, Abdul M. A.;
Fujii, Hisaichi;
Miwa, Shiro;
Ishii, Akira

Publication type:

Article

Genome-wide distribution of linkage disequilibrium in the population of Palau and its implications for gene flow in Remote Oceania.

Published in:

Human Genetics, 2001, v. 108, n. 6, p. 521, doi. 10.1007/s004390100511

By:

Devlin, B.;
Roeder, Kathryn;
Otto, Caleb;
Tiobech, Seba;
Byerley, W.

Publication type:

Article

Acrocentric chromosome disomy is increased in spermatozoa from fathers of Turner syndrome patients.

Published in:

Human Genetics, 2001, v. 108, n. 6, p. 499, doi. 10.1007/s004390100521

By:

Soares, Sérgio Reis;
Vidal, Francesca;
Bosch, Mercè;
Martínez-Pasarell, Olga;
Nogués, Carme;
Egozcue, Josep;
Templado, Cristina

Publication type:

Article

Statistical estimation and pedigree analysis of CCR2-CCR5 haplotypes.

Published in:

Human Genetics, 2001, v. 108, n. 6, p. 484, doi. 10.1007/s004390100512

By:

Clark, Vanessa J.;
Metheny, Noah;
Dean, Michael;
Peterson, Raymond J.

Publication type:

Article

The TNFRSF6 gene is not implicated in familial early-onset Alzheimer's disease.

Published in:

Human Genetics, 2001, v. 108, n. 6, p. 552, doi. 10.1007/s004390100508

By:

Theuns, Jessie;
Feuk, Lars;
Dermaut, Bart;
Del-Favero, Jurgen;
Roks, Gerwin;
Van den Bossche, Dirk;
Corsmit, Ellen;
Van den Broeck, Marleen;
van Duijn, Cornelia M.;
Cruts, Marc;
Brookes, Anthony J.;
Van Broeckhoven, Christine

Publication type:

Article

Analysis of lymphoedema-distichiasis families for FOXC2 mutations reveals small insertions and deletions throughout the gene.

Published in:

Human Genetics, 2001, v. 108, n. 6, p. 546, doi. 10.1007/s004390100528

By:

Bell, R.;
Brice, G.;
Child, A. H.;
Murday, V. A.;
Mansour, S.;
Sandy, C. J.;
Collin, J. R. O.;
Brady, A. F.;
Callen, D. F.;
Burnand, K.;
Mortimer, P.;
Jeffery, S.

Publication type:

Article

Partial maternal heterodisomy of chromosome 17q25 in a case of severe mental retardation.

Published in:

Human Genetics, 2001, v. 108, n. 6, p. 511, doi. 10.1007/s004390100522

By:

Rio, Marlène;
Ozilou, Catherine;
Cormier-Daire, Valérie;
Turleau, Catherine;
Prieur, Marguerite;
Vekemans, Michel;
Chauveau, Pierre;
Munnich, Arnold;
Colleaux, Laurence

Publication type:

Article

The structure of duplications on human acrocentric chromosome short arms derived by the analysis of 15p.

Published in:

Human Genetics, 2001, v. 108, n. 6, p. 467, doi. 10.1007/s004390100520

By:

Piccini, I.;
Ballarati, L.;
Bassi, C.;
Rocchi, M.;
Marozzi, A.;
Ginelli, E.;
Meneveri, R.

Publication type:

Article