Works matching IS 10184813 AND DT 2004 AND VI 12 AND IP 10

Results: 14

A susceptibility gene for premature ovarian failure (POF) maps to proximal Xq28.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 10, p. 829, doi. 10.1038/sj.ejhg.5201186

By:

Rossetti, Francesca;
Rizzolio, Flavio;
Pramparo, Tiziano;
Sala, Cinzia;
Bione, Silvia;
Bernardi, Franca;
Goegan, Mara;
Zuffardi, Orsetta;
Toniolo, Daniela

Publication type:

Article

A double cryptic chromosome imbalance is an important factor to explain phenotypic variability in Wolf-Hirschhorn syndrome.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 10, p. 797, doi. 10.1038/sj.ejhg.5201203

By:

Zollino, Marcella;
Lecce, Rosetta;
Selicorni, Angelo;
Murdolo, Marina;
Mancuso, Irene;
Marangi, Giuseppe;
Zampino, Giuseppe;
Garavelli, Livia;
Ferrarini, Alessandra;
Rocchi, Mariano;
Opitz, John M;
Neri, Giovanni

Publication type:

Article

Detection of the founder effect in Finnish CADASIL families.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 10, p. 813, doi. 10.1038/sj.ejhg.5201221

By:

Mykkänen, Kati;
Savontaus, Marja-Liisa;
Juvonen, Vesa;
Sistonen, Pertti;
Tuisku, Seppo;
Tuominen, Susanna;
Penttinen, Maila;
Lundkvist, Johan;
Viitanen, Matti;
Kalimo, Hannu;
Pöyhönen, Minna

Publication type:

Article

Reduced genetic structure of the Iberian peninsula revealed by Y-chromosome analysis: implications for population demography.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 10, p. 855, doi. 10.1038/sj.ejhg.5201225

By:

Flores, Carlos;
Maca-Meyer, Nicole;
González, Ana M;
Oefner, Peter J.;
Shen, Peidong;
Pérez, Jose A.;
Rojas, Antonio;
Larruga, Jose M;
Underhill, Peter A

Publication type:

Article

1024C>T (R342X) is a recurrent PHF6 mutation also found in the original Börjeson-Forssman-Lehmann syndrome family.

Published in:

2004

By:

Lower, Karen M;
Solders, Göran;
Bondeson, Marie-Louise;
Nelson, John;
Brun, Arne;
Crawford, Joanna;
Malm, Gunilla;
Börjeson, Mats;
Turner, Gillian;
Partington, Michael;
Gécz, Jozef

Publication type:

Letter

QTLs for height: results of a full genome scan in Dutch sibling pairs.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 10, p. 820, doi. 10.1038/sj.ejhg.5201229

By:

Willemsen, Gonneke;
Boomsma, Dorret I;
Beem, A. Leo;
Vink, Jacqueline M;
Slagboom, P. Eline;
Posthuma, Danielle

Publication type:

Article

RNAi of COL1A1 in mesenchymal progenitor cells.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 10, p. 864, doi. 10.1038/sj.ejhg.5201230

By:

Millington-Ward, Sophia;
McMahon, Helena P;
Allen, Danny;
Tuohy, Gearóid;
Kiang, Anna-Sophia;
Palfi, Arpad;
Kenna, Paul F.;
Humphries, Peter;
Farrar, G. Jane

Publication type:

Article

Handling missing values in population data: consequences for maximum likelihood estimation of haplotype frequencies.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 10, p. 805, doi. 10.1038/sj.ejhg.5201233

By:

Gourraud, Pierre-Antoine;
Génin, Emmanuelle;
Cambon-Thomsen, Anne

Publication type:

Article

Paraoxonase 1 polymorphisms and survival.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 10, p. 843, doi. 10.1038/sj.ejhg.5201235

By:

Christiansen, L.;
Bathum, L.;
Frederiksen, H.;
Christensen, K.

Publication type:

Article

Polymorphisms of the PRNP gene in Chinese populations and the identification of a novel insertion mutation.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 10, p. 867, doi. 10.1038/sj.ejhg.5201245

By:

Yu, Shui-Liang;
Jin, Lei;
Sy, Man-Sun;
Mei, Fang-Hua;
Kang, Shu-Li;
Sun, Gui-Hong;
Tien, Po;
Wang, Fu-Sheng;
Xiao, Geng-Fu

Publication type:

Article

Congenital deficiency of alpha feto-protein.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 10, p. 871, doi. 10.1038/sj.ejhg.5201246

By:

Sharony, Reuven;
Zadik, Idit;
Parvari, Ruti

Publication type:

Article

Multivariate QTL linkage analysis suggests a QTL for platelet count on chromosome 19q.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 10, p. 835, doi. 10.1038/sj.ejhg.5201248

By:

Evans, David M;
Zhu, Gu;
Duffy, David L;
Montgomery, Grant W;
Frazer, Ian H;
Martin, Nicholas G

Publication type:

Article

Breast cancer: role of polymorphisms in biotransformation enzymes.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 10, p. 848, doi. 10.1038/sj.ejhg.5201249

By:

Šarmanová, Jana;
Šůsová, Simona;
Gut, Ivan;
Mrhalová, Marcela;
Kodet, Roman;
Adámek, Jan;
Roth, Zdeněk;
Souček, Pavel

Publication type:

Article

Clinical features and molecular analysis of seven British kindreds with hereditary hyperferritinaemia cataract syndrome.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 10, p. 790, doi. 10.1038/sj.ejhg.5201252

By:

Lachlan, Katherine L;
Temple, I. Karen;
Mumford, Andrew D

Publication type:

Article