Volume 12; Issue 10

European Journal of Human Genetics

Volume 12; Issue 10

1

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

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

Journal:

European Journal of Human Genetics

Year:

2004

Language:

english

File:

PDF, 147 KB

english, 2004

2

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

Zollino, Marcella, Lecce, Rosetta, Selicorni, Angelo, Murdolo, Marina, Mancuso, Irene, Marangi, Giuseppe, Zampino, Giuseppe, Garavelli, Livia, Ferrarini, Alessandra, Rocchi, Mariano

Journal:

European Journal of Human Genetics

Year:

2004

Language:

english

File:

PDF, 156 KB

english, 2004

3

Detection of the founder effect in Finnish CADASIL families

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

Journal:

European Journal of Human Genetics

Year:

2004

Language:

english

File:

PDF, 235 KB

english, 2004

4

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

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

Journal:

European Journal of Human Genetics

Year:

2004

Language:

english

File:

PDF, 232 KB

english, 2004

5

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

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

Journal:

European Journal of Human Genetics

Year:

2004

Language:

english

File:

PDF, 123 KB

english, 2004

6

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

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

Journal:

European Journal of Human Genetics

Year:

2004

Language:

english

File:

PDF, 138 KB

english, 2004

7

RNAi of COL1A1 in mesenchymal progenitor cells

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

Journal:

European Journal of Human Genetics

Year:

2004

Language:

english

File:

PDF, 68 KB

english, 2004

8

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

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

Journal:

European Journal of Human Genetics

Year:

2004

Language:

english

File:

PDF, 118 KB

english, 2004

9

Paraoxonase 1 polymorphisms and survival

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

Journal:

European Journal of Human Genetics

Year:

2004

Language:

english

File:

PDF, 81 KB

english, 2004

10

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

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

Journal:

European Journal of Human Genetics

Year:

2004

Language:

english

File:

PDF, 85 KB

english, 2004

11

Congenital deficiency of alpha feto-protein

Sharony, Reuven, Zadik, Idit, Parvari, Ruti

Journal:

European Journal of Human Genetics

Year:

2004

Language:

english

File:

PDF, 117 KB

english, 2004

12

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

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

Journal:

European Journal of Human Genetics

Year:

2004

Language:

english

File:

PDF, 299 KB

english, 2004

13

Breast cancer: role of polymorphisms in biotransformation enzymes

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

Journal:

European Journal of Human Genetics

Year:

2004

Language:

english

File:

PDF, 99 KB

english, 2004

14

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

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

Journal:

European Journal of Human Genetics

Year:

2004

Language:

english

File:

PDF, 145 KB

english, 2004