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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
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
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
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
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
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
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
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
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
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
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

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