Works matching IS 10184813 AND DT 2001 AND VI 9 AND IP 12

Results: 18

Cryptic subtelomeric translocation t(2;16)(q37;q24) segregating in a family with unexplained stillbirths and a dysmorphic, slightly retarded child.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 12, p. 881, doi. 10.1038/sj.ejhg.5200730

By:

Giardino, Daniela;
Finelli, Palma;
Gottardi, Giulietta;
Clerici, Donata;
Mosca, Fabio;
Briscioli, Vincenza;
Larizza, Lidia

Publication type:

Article

HFE gene mutations analysis in Basque hereditary haemochromatosis patients and controls.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 12, p. 961, doi. 10.1038/sj.ejhg.5200731

By:

de Juan, MaDolores;
Reta, Ana;
Castiella, Agustin;
Pozueta, Jasone;
Prada, Alvaro;
Cuadrado, Emilio

Publication type:

Article

Genomic organisation of the ∼1.5 Mb Smith-Magenis syndrome critical interval: Transcription map, genomic contig, and candidate gene analysis.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 12, p. 892, doi. 10.1038/sj.ejhg.5200734

By:

Lucas, Rebecca E;
Vlangos, Christopher N;
Das, Parimal;
Patel, Pragna I;
Elsea, Sarah H

Publication type:

Article

Mutation and linkage disequilibrium in human mtDNA.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 12, p. 969, doi. 10.1038/sj.ejhg.5200735

By:

Hedrick, Philip;
Kumar, Sudhir

Publication type:

Article

Spectrum of CLCN1 mutations in patients with myotonia congenita in Northern Scandinavia.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 12, p. 903, doi. 10.1038/sj.ejhg.5200736

By:

Sun, Chen;
Tranebjærg, Lisbeth;
Torbergsen, Torberg;
Holmgren, Gösta;
Van Ghelue, Marijke

Publication type:

Article

Annual Review of Genomics and Human Genetics.

Published in:

2001

By:

Brunner, Dr Han G

Publication type:

Book Review

Evidence from skewed X inactivation for trisomy mosaicism in Silver-Russell syndrome.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 12, p. 887, doi. 10.1038/sj.ejhg.5200740

By:

Sharp, Andrew;
Moore, Gudrun;
Eggermann, Thomas

Publication type:

Article

Low incidence of UPD in spontaneous abortions beyond the 5th gestational week.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 12, p. 910, doi. 10.1038/sj.ejhg.5200741

By:

Fritz, Barbara;
Aslan, Mücevher;
Kalscheuer, Vera;
Ramsing, Mette;
Saar, Kathrin;
Fuchs, Brigitte;
Rehder, Helga

Publication type:

Article

The level of the mitochondrial mutation A3243G decreases upon ageing in epithelial cells from individuals with diabetes and deafness.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 12, p. 917, doi. 10.1038/sj.ejhg.5200742

By:

Olsson, Charlotta;
Johnsen, Elsy;
Nilsson, Mats;
Wilander, Erik;
Syvänen, Ann-Christine;
Lagerström-Fermér, Maria

Publication type:

Article

NEDD4L on human chromosome 18q21 has multiple forms of transcripts and is a homologue of the mouse Nedd4-2 gene.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 12, p. 922, doi. 10.1038/sj.ejhg.5200747

By:

Chen, Haiming;
Ross, Christopher A;
Wang, Nulang;
Huo, Yuqing;
MacKinnon, Dean F;
Potash, James B;
Simpson, Sylvia G;
McMahon, Francis J;
DePaulo, Jr, J Raymond;
McInnis, Melvin G

Publication type:

Article

Genome-wide linkage analysis of Scandinavian affected sib-pairs supports presence of susceptibility loci for celiac disease on chromosomes 5 and 11.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 12, p. 938, doi. 10.1038/sj.ejhg.5200752

By:

Naluai, Åsa Torinsson;
Nilsson, Staffan;
Gudjónsdóttir, Audur H;
Louka, Andrew S;
Ascher, Henry;
Ek, Johan;
Hallberg, Birgitta;
Samuelsson, Lena;
Kristiansson, Bengt;
Martinsson, Tommy;
Nerman, Olle;
Sollid, Ludvig M;
Wahlström, Jan

Publication type:

Article

Allergic rhinitis – a total genome-scan for susceptibility genes suggests a locus on chromosome 4q24-q27.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 12, p. 945, doi. 10.1038/sj.ejhg.5200753

By:

Haagerup, Annette;
Bjerke, Torbjørn;
Schøitz, Peter Oluf;
Binderup, Helle G;
Dahl, Ronald;
Kruse, Torben A

Publication type:

Article

Molecular characterisation of glutamate dehydrogenase gene defects in Japanese patients with congenital hyperinsulinism/hyperammonaemia.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 12, p. 931, doi. 10.1038/sj.ejhg.5200749

By:

Fujioka, Hiroki;
Okano, Yoshiyuki;
Inada, Hiroshi;
Asada, Minoru;
Kawamura, Tomoyuki;
Hase, Yutaka;
Yamano, Tsunekazu

Publication type:

Article

Teaching undergraduates about familial breast cancer: comparison of a computer assisted learning (CAL) package with a traditional tutorial approach.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 12, p. 953, doi. 10.1038/sj.ejhg.5200751

By:

Miedzybrodzka, Zosia;
Hamilton, Neil M;
Gregory, Helen;
Milner, Benedict;
Frade, Iciar;
Sinclair, Tracy;
Mollison, Jill;
Haites, Neva

Publication type:

Article

Distribution of the M129V polymorphism of the prion protein gene in a Turkish population suggests a high risk for Creutzfeldt-Jakob disease.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 12, p. 965, doi. 10.1038/sj.ejhg.5200754

By:

Erginel-Unaltuna, Nihan;
Peoc'h, Katell;
Komurcu, Evrim;
Acuner, Tufan Tevfik;
Issever, Halim;
Laplanche, Jean-Louis

Publication type:

Article

Mutation detection for exons 2 to 10 of the Polycystic Kidney Disease 1 (PKD1)-gene by DGGE.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 12, p. 957, doi. 10.1038/sj.ejhg.5200756

By:

Peters, Dorien J M;
Ariyurek, Yavuz;
van Dijk, Marjan;
Breuning, Martijn H

Publication type:

Article

Author index to volume 9.

Published in:: European Journal of Human Genetics, 2001, v. 9, n. 12, p. 974, doi. 10.1038/sj.ejhg.5200764
Publication type:: Article

Keyword index to volume 9.

Published in:: European Journal of Human Genetics, 2001, v. 9, n. 12, p. 980, doi. 10.1038/sj.ejhg.5200765
Publication type:: Article