Works matching IS 10184813 AND DT 2001 AND VI 9 AND IP 2

Results: 13

Maternal repression of the human GRB10 gene in the developing central nervous system; evaluation of the role for GRB10 in Silver-Russell syndrome.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 2, p. 82, doi. 10.1038/sj.ejhg.5200583

By:

Hitchins, Megan P;
Monk, David;
Bell, Gillian M;
Ali, Zehra;
Preece, Michael A;
Stanier, Philip;
Moore, Gudrun E

Publication type:

Article

A high-resolution integrated map spanning the SDHD gene at 11q23: a 1.1-Mb BAC contig, a partial transcript map and 15 new repeat polymorphisms in a tumour-suppressor region.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 2, p. 121, doi. 10.1038/sj.ejhg.5200585

By:

Baysal, Bora E;
Willett-Brozick, Joan E;
Taschner, Peter EM;
Dauwerse, J G;
Devilee, Peter;
Devlin, B

Publication type:

Article

Attempts to detect retrotransposition and de novo deletion of Alus and other dispersed repeats at specific loci in the human genome.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 2, p. 143, doi. 10.1038/sj.ejhg.5200590

By:

Hollies, Caroline R;
Monckton, Darren G;
Jeffreys, Alec J

Publication type:

Article

PCAP is the major known prostate cancer predisposing locus in families from south and west Europe.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 2, p. 135, doi. 10.1038/sj.ejhg.5200592

By:

Cancel-Tassin, Géraldine;
Latil, Alain;
Valéri, Antoine;
Mangin, Philippe;
Fournier, Georges;
Berthon, Philippe;
Cussenot, Olivier

Publication type:

Article

Analysis of the genotypes and phenotypes of 37 unrelated patients with inherited factor VII deficiency.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 2, p. 105

By:

Giansily-Blaizot, Muriel;
Aguilar-Martinez, Patricia;
Biron-Andreani, Christine;
Jeanjean, Philippe;
Igual, Hélène;
Schved, Jean-François

Publication type:

Article

The impact of genotyping error on family-based analysis of quantitative traits.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 2, p. 130, doi. 10.1038/sj.ejhg.5200594

By:

Abecasis, Gonçalo R;
Cherny, Stacey S;
Cardon, Lon R

Publication type:

Article

Letter.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 2, p. 151, doi. 10.1038/sj.ejhg.5200596

By:

Anichkina, Anna;
Kulenich, Tatiana;
Zinchenko, Sergey;
Shagina, Irena;
Polyakov, Aleksander;
Ginter, Evgenii;
Evgrafov, Oleg;
Viktorova, Tatiana;
Khusnitdonova, Elza

Publication type:

Article

Patterns of inter- and intra-group genetic diversity in the Vlax Roma as revealed by Y chromosome and mitochondrial DNA lineages.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 2, p. 97, doi. 10.1038/sj.ejhg.5200597

By:

Kalaydjieva, Luba;
Calafell, Francesc;
Jobling, Mark A;
Angelicheva, Dora;
de Knijff, Peter;
Rosser, Zoë H;
Hurles, Matthew E;
Underhill, Peter;
Tournev, Ivailo;
Marushiakova, Elena;
Popov, Vesselin

Publication type:

Article

Human α-N-acetylgalactosaminidase (α-NAGA) deficiency: no association with neuroaxonal dystrophy?

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 2, p. 91, doi. 10.1038/sj.ejhg.5200598

By:

Bakker, Henk D;
de Sonnaville, Marie-Louise CS;
Vreken, Peter;
Abeling, Nico GGM;
Groener, Johanna EM;
Keulemans, Joke LM;
van Diggelen, Otto P

Publication type:

Article

Premature termination mutations in exon 3 of the SMN1 gene are associated with exon skipping and a relatively mild SMA phenotype.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 2, p. 113, doi. 10.1038/sj.ejhg.5200599

By:

Sossi, Vittorio;
Giuli, Anna;
Vitali, Tiziana;
Tiziano, Francesco;
Mirabella, Massimiliano;
Antonelli, Antonella;
Neri, Giovanni;
Brahe, Christina

Publication type:

Article

Maternally inherited deafness associated with a T1095C mutation in the mDNA.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 2, p. 147, doi. 10.1038/sj.ejhg.5200601

By:

Tessa, Alessandro;
Giannotti, Aldo;
Tieri, Luigi;
Vilarinho, Laura;
Marotta, Giacomo;
Santorelli, Filippo M

Publication type:

Article

XLMR genes: update 2000.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 2, p. 71, doi. 10.1038/sj.ejhg.5200603

By:

Chiurazzi, Pietro;
Hamel, Ben CJ;
Neri, Giovanni

Publication type:

Article

Letter.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 2, p. 150, doi. 10.1038/sj.ejhg.5200611

By:

Anichkina, Anna;
Kulenich, Tatiana;
Zinchenko, Sergey;
Shagina, Irena;
Polyakov, Aleksander;
Ginter, Evgenii;
Evgrafov, Oleg;
Viktorova, Tatiana;
Khusnitdonova, Elza;
Zollino, Marcella;
Neri, Giovanni

Publication type:

Article