Volume 13; Issue 8

European Journal of Human Genetics

Volume 13; Issue 8

1

Allele variations in the OCA2 gene (pink-eyed-dilution locus) are associated with genetic susceptibility to melanoma

Jannot, Anne-Sophie, Meziani, Roubila, Bertrand, Guylene, Gérard, Benedicte, Descamps, Vincent, Archimbaud, Alain, Picard, Catherine, Ollivaud, Laurence, Basset-Seguin, Nicole, Kerob, Delphine

Journal:

European Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 109 KB

english, 2005

2

Hereditary nonpolyposis colorectal cancer: pitfalls in deletion screening in MSH2 and MLH1 genes

Wehner, Maria, Mangold, Elisabeth, Sengteller, Marlies, Friedrichs, Nicolaus, Aretz, Stefan, Friedl, Waltraut, Propping, Peter, Lifton, R

Journal:

European Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 134 KB

english, 2005

3

The pick of the crop

Walley, Andrew John

Journal:

European Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 42 KB

english, 2005

4

Measured haplotype analysis of the aldosterone synthase gene and heart size

Mayosi, Bongani M, Keavney, Bernard, Watkins, Hugh, Farrall, Martin

Journal:

European Journal of Human Genetics

Year:

2005

File:

PDF, 29 KB

2005

5

The difference between observed and expected prevalence of MCAD deficiency in The Netherlands: a genetic epidemiological study

Derks, Terry G J, Duran, Marinus, Waterham, Hans R, Reijngoud, Dirk-Jan, ten Kate, Leo P, Smit, G Peter A

Journal:

European Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 114 KB

english, 2005

6

Disruption of Netrin G1 by a balanced chromosome translocation in a girl with Rett syndrome

Borg, Isabella, Freude, Kristine, Kübart, Sabine, Hoffmann, Kirsten, Menzel, Corinna, Laccone, Franco, Firth, Helen, Ferguson-Smith, Malcolm A, Tommerup, Niels, Ropers, Hans-Hilger

Journal:

European Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 195 KB

english, 2005

7

High-throughput pedigree drawing

Mäkinen, Ville-Petteri, Parkkonen, Maija, Wessman, Maija, Groop, Per-Henrik, Kanninen, Timo, Read, Andrew P

Journal:

European Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 135 KB

english, 2005

8

A most welcome new edition in a fast advancing field

Journal:

European Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 49 KB

english, 2005

9

RAR-related orphan receptor A isoform 1 (RORa1) is disrupted by a balanced translocation t(4;15)(q22.3;q21.3) associated with severe obesity

Klar, Joakim, Åsling, Bengt, Carlsson, Birgit, Ulvsbäck, Magnus, Dellsén, Anita, Ström, Carina, Rhedin, Magdalena, Forslund, Anders, Annerén, Göran, Ludvigsson, Jonas F

Journal:

European Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 146 KB

english, 2005

10

Short tandem repeats haplotyping of the HLA region in preimplantation HLA matching

Fiorentino, Francesco, Kahraman, Semra, Karadayi, Hüseyin, Biricik, Anil, Sertyel, Semra, Karlikaya, Güvenc, Saglam, Yaman, Podini, Daniele, Nuccitelli, Andrea, Baldi, Marina

Journal:

European Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 208 KB

english, 2005

11

Hutterite brothers both affected with two forms of limb girdle muscular dystrophy: LGMD2H and LGMD2I

Frosk, Patrick, Del Bigio, Marc R, Wrogemann, Klaus, Greenberg, Cheryl R

Journal:

European Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 260 KB

english, 2005

12

Screening of mutations in the CFTR gene in 1195 couples entering assisted reproduction technique programs

Stuppia, Liborio, Antonucci, Ivana, Binni, Francesco, Brandi, Alessandra, Grifone, Nicoletta, Colosimo, Alessia, De Santo, Mariella, Gatta, Valentina, Gelli, Gianfranco, Guida, Valentina

Journal:

European Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 88 KB

english, 2005

13

Mitochondrial DNA and ACTN3 genotypes in Finnish elite endurance and sprint athletes

Niemi, Anna-Kaisa, Majamaa, Kari

Journal:

European Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 97 KB

english, 2005

14

The population history of the Croatian linguistic minority of Molise (southern Italy): a maternal view

Babalini, Carla, Martínez-Labarga, Cristina, Tolk, Helle-Viivi, Kivisild, Toomas, Giampaolo, Rita, Tarsi, Tiziana, Contini, Irene, Barać, Lovorka, Janićijević, Branka, Martinović Klarić, Irena

Journal:

European Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 384 KB

english, 2005

15

Typing without calling the allele: a strategy for inferring SNP haplotypes

Barzuza, Tamar, Beckmann, Jacques S, Shamir, Ron, Pe'er, Itsik

Journal:

European Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 121 KB

english, 2005

16

Bioinformatics: Computers or clinicians for complex disease risk assessment?

Journal:

European Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 56 KB

english, 2005

17

Loss of ZDHHC15 expression in a woman with a balanced translocation t(X;15)(q13.3;cen) and severe mental retardation

Mansouri, Mahmoud Reza, Marklund, Lena, Gustavsson, Peter, Davey, Edward, Carlsson, Birgit, Larsson, Catharina, White, Irene, Gustavson, Karl-Henrik, Dahl, Niklas

Journal:

European Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 297 KB

english, 2005

18

Genotype–phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy

Bongers, Ernie M H F, Huysmans, Frans T, Levtchenko, Elena, de Rooy, Jacky W, Blickman, Johan G, Admiraal, Ronald J C, Huygen, Patrick L M, Cruysberg, Johannes R M, Toolens, Pauline A M P, Prins, Judi

Journal:

European Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 256 KB

english, 2005

19

Genomics: The amazing complexity of the human transcriptome

Frith, Martin C, Pheasant, Michael, Mattick, John S

Journal:

European Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 70 KB

english, 2005