Works matching IS 03406717 AND DT 2000 AND VI 107 AND IP 4

Results: 18

Neurofibromatosis type 2 attributable to gonosomal mosaicism in a clinically normal mother, and identification of seven novel mutations in the NF2 gene.

Published in:

Human Genetics, 2000, v. 107, n. 4, p. 366, doi. 10.1007/s004390000378

By:

Sestini, Roberta;
Vivarelli, Rossella;
Balestri, Paolo;
Ammannati, Franco;
Montali, Enrico;
Papi, Laura

Publication type:

Article

Molecular and clinical analysis of Japanese patients with 3-hydroxy-3-methylglutaryl CoA lyase (HL) deficiency.

Published in:

Human Genetics, 2000, v. 107, n. 4, p. 320, doi. 10.1007/s004390000363

By:

Muroi, Junko;
Yorifuji, Tohru;
Uematsu, Ayumi;
Shigematsu, Yosuke;
Onigata, Kazumichi;
Maruyama, Hiroaki;
Nobutoki, Tatsuro;
Kitamura, Akiko;
Nakahata, Tatsutoshi

Publication type:

Article

In-frame deletions of BRCA1 may define critical functional domains.

Published in:

Human Genetics, 2000, v. 107, n. 4, p. 385, doi. 10.1007/s004390000372

By:

Rohlfs, Elizabeth M.;
Chung, Christine H.;
Qing Yang;
Skrzynia, Cecile;
Grody, Wayne W.;
Graham, Mark L.;
Silverman, Lawrence M.

Publication type:

Article

Allelic loss at the neurofibromatosis type 1 (NF1) gene locus is frequent in desmoplastic neurotropic melanoma.

Published in:

Human Genetics, 2000, v. 107, n. 4, p. 357, doi. 10.1007/s004390000374

By:

Gutzmer, Ralf;
Herbst, Rudolf;
Mommert, Susanne;
Kiehl, Peter;
Matiaske, Frank;
Rütten, Arno;
Kapp, Alexander;
xFC;rgen#Weiss, J&

Publication type:

Article

Molecular analysis of the genotype-phenotype relationship in factor VII deficiency.

Published in:

Human Genetics, 2000, v. 107, n. 4, p. 327, doi. 10.1007/s004390000373

By:

Millar, D. S.;
Kemball-Cook, G.;
McVey, J. H.;
Tuddenham, E. G D.;
Mumford, A. D.;
Attock, G. B.;
Reverter, J. C.;
Lanir, N.;
Parapia, L. A.;
Reynaud, J.;
Meili, E.;
von Felton, A.;
Martinowitz, U.;
Prangnell, D. R.;
Krawczak, M.;
Cooper, D. N.

Publication type:

Article

Molecular analysis of the TSC1 and TSC2 tumour suppressor genes in sporadic glial and glioneuronal tumours.

Published in:

Human Genetics, 2000, v. 107, n. 4, p. 350, doi. 10.1007/s004390000390

By:

Parry, Lee;
Maynard, Julie H.;
Patel, Amit;
Hodges, Angela K.;
von Deimling, Andreas;
Sampson, Julian R.;
Cheadle, Jeremy P.

Publication type:

Article

Gene rearrangement on 1q21 introducing a duplication of the glucocerebrosidase pseudogene and a metaxin fusion gene.

Published in:

Human Genetics, 2000, v. 107, n. 4, p. 400, doi. 10.1007/s004390000380

By:

Tayebi, Nahid;
Park, Joseph;
Madike, Victor;
Sidransky, Ellen

Publication type:

Article

Molecular definition of Xq common-deleted region in patients affected by premature ovarian failure.

Published in:

Human Genetics, 2000, v. 107, n. 4, p. 304, doi. 10.1007/s004390000364

By:

Marozzi, Anna;
Manfredini, Emanuela;
Tibiletti, Maria;
Furlan, Daniela;
Villa, Nicoletta;
Vegetti, Walter;
Crosignani, Pier;
Ginelli, Enrico;
Meneveri, Raffaella;
Dalprà, Leda

Publication type:

Article

Canine cystinuria: polymorphism in the canine SLC3A1 gene and identification of a nonsense mutation in cystinuric Newfoundland dogs.

Published in:

Human Genetics, 2000, v. 107, n. 4, p. 295, doi. 10.1007/s004390000392

By:

Henthorn, Paula S.;
Junlong Liu;
Gidalevich, Tanya;
Jikang Fang;
Casal, Margret L.;
Patterson, Donald F.;
Giger, Urs

Publication type:

Article

Absence of trabecular meshwork-inducible stretch response (TISR)/oculomedin gene and proximal promoter mutation in primary open angle glaucoma patients.

Published in:

Human Genetics, 2000, v. 107, n. 4, p. 404, doi. 10.1007/s004390000385

By:

Leung, Y.F.;
Baum, L.;
Lam, D.S.C.;
Fan, D.S.P.;
Chua, J.K.H.;
Pang, C.P.

Publication type:

Article

Age- and tissue-specific variation of X chromosome inactivation ratios in normal women.

Published in:

Human Genetics, 2000, v. 107, n. 4, p. 343, doi. 10.1007/s004390000382

By:

Sharp, Andrew;
Robinson, David;
Jacobs, Patricia

Publication type:

Article

Alu insertion polymorphisms in NW Africa and the Iberian Peninsula: evidence for a strong genetic boundary through the Gibraltar Straits.

Published in:

Human Genetics, 2000, v. 107, n. 4, p. 312, doi. 10.1007/s004390000370

By:

Comas, David;
Calafell, Francesc;
Benchemsi, Noufissa;
Helal, Ahmed;
Lefranc, Gerard;
Stoneking, Mark;
Batzer, Mark A.;
Bertranpetit, Jaume;
Sajantila, Antti

Publication type:

Article

Changes in primary DNA sequence complexity influence the phenotypic consequences of mutations in human gene regulatory regions.

Published in:

Human Genetics, 2000, v. 107, n. 4, p. 362, doi. 10.1007/s004390000393

By:

Krawczak, Michael;
Chuzhanova, Nadia A.;
Stenson, Peter D.;
Johansen, Bent N.;
Ball, Edward V.;
Cooper, David N.

Publication type:

Article

Genomic structure of the human Ah receptor nuclear translocator gene (hARNT).

Published in:

Human Genetics, 2000, v. 107, n. 4, p. 397, doi. 10.1007/s004390000379

By:

Scheel, Julia;
Schrenk, Dieter

Publication type:

Article

Analysis of HPC1, HPCX, and PCaP in Icelandic hereditary prostate cancer.

Published in:

Human Genetics, 2000, v. 107, n. 4, p. 372, doi. 10.1007/s004390000384

By:

Bergthorsson, Jon T.;
Johannesdottir, Gudrun;
Arason, Adalgeir;
Benediktsdottir, Kristrun R.;
Agnarsson, Bjarni A.;
Bailey-Wilson, Joan E.;
Gillanders, Elizabeth;
Smith, Jeffrey;
Trent, Jeff;
Barkardottir, Rosa B.

Publication type:

Article

Characterization of the γc chain among 27 unrelated Japanese patients with X-linked severe combined immunodeficiency (X-SCID).

Published in:

Human Genetics, 2000, v. 107, n. 4, p. 406, doi. 10.1007/s004390000381

By:

Kumaki, Satoru;
Ishii, Naoto;
Minegishi, Masayoshi;
Ohashi, Yoshiyuki;
Hakozaki, Ikuko;
Nonoyama, Shigeaki;
Imai, Kohsuke;
Morio, Tomohiro;
Tsuge, Ikuya;
Sakiyama, Yukio;
Miyanoshita, Akihiko;
Miura, Jun-ichi;
Mayumi, Mitsuhumi;
Heike, Toshio;
Katamura, Kenji;
Takada, Hidetoshi;
Izumi, Isho;
Kamizono, Junji;
Hibi, Shigeyoshi;
Sasaki, Hiroshi

Publication type:

Article

Apolipoprotein-E dependent role for the FAS receptor in early onset Alzheimer's disease: finding of a positive association for a polymorphism in the TNFRSF6 gene.

Published in:

Human Genetics, 2000, v. 107, n. 4, p. 391, doi. 10.1007/s004390000383

By:

Feuk, Lars;
Prince, Jonathan A.;
Breen, Gerome;
Emahazion, Tesfai;
Carothers, Andrew;
St Clair, David;
Brookes, Anthony J.

Publication type:

Article

Components of the human spindle checkpoint control mechanism localize specifically to the active centromere on dicentric chromosomes.

Published in:

Human Genetics, 2000, v. 107, n. 4, p. 376, doi. 10.1007/s004390000386

By:

Saffery, Richard;
Irvine, Danielle V.;
Griffiths, Belinda;
Kalitsis, Paul;
Choo, K. H. Andy

Publication type:

Article