Volume 11; Issue 12

European Journal of Human Genetics

Volume 11; Issue 12

1

Alternatively spliced, truncated human BRCA2 isoforms contain a novel coding exon

Speevak, Marsha D, Young, Sean S, Feilotter, Harriet, Ainsworth, Peter

Journal:

European Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 126 KB

english, 2003

2

A high frequency of BRCA2 gene mutations in Polish families with ovarian and stomach cancer

Jakubowska, Anna, Scott, Rodney, Menkiszak, Janusz, Gronwald, Jacek, Byrski, Tomasz, Huzarski, Tomasz, Górski, Bohdan, Cybulski, Cezary, De&#x0327, bniak, Tadeusz, Kowalska, Elżbieta

Journal:

European Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 75 KB

english, 2003

3

Asymptomatic carriers for homozygous novel mutations in the FKRP gene: the other end of the spectrum

Paula, Flavia de, Vieira, Natássia, Starling, Alessandra, Yamamoto, Lydia Uraco, Lima, Bruno, Pavanello, Rita de Cássia, Vainzof, Mariz, Nigro, Vincenzo, Zatz, Mayana

Journal:

European Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 119 KB

english, 2003

4

Maple syrup urine disease in the Austronesian aboriginal tribe Paiwan of Taiwan: a novel DBT (E2) gene 4.7 kb founder deletion caused by a nonhomologous recombination between LINE-1 and Alu and the carrier-frequency determination

Chi, Ching-Shiang, Tsai, Chi-Ren, Chen, Liang-Hui, Lee, Hsiu-Fen, Mak, Betty Suk-Chun, Yang, Shu-Hsuang, Wang, Tsai-Yuh, Shu, San-Ging, Chen, Chao-Hui

Journal:

European Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 247 KB

english, 2003

5

A first locus for isolated autosomal recessive optic atrophy (ROA1) maps to chromosome 8q

Barbet, Fabienne, Gerber, Sylvie, Hakiki, Sélim, Perrault, Isabelle, Hanein, Sylvain, Ducroq, Dominique, Tanguy, Gaëlle, Dufier, Jean-Louis, Munnich, Arnold, Rozet, Jean-Michel

Journal:

European Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 197 KB

english, 2003

6

Prenatal testing for late-onset neurogenetic diseases

Helderman-van den Enden, A T J M

Journal:

European Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 37 KB

english, 2003

7

X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndrome

Cason, A Lauren, Ikeguchi, Yoshihiko, Skinner, Cindy, Wood, Tim C, Holden, Kenton R, Lubs, Herbert A, Martinez, Francisco, Simensen, Richard J, Stevenson, Roger E, Pegg, Anthony E

Journal:

European Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 231 KB

english, 2003

8

Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese

Tsukamoto, Koji, Suzuki, Hiroaki, Harada, Daisuke, Namba, Atsushi, Abe, Satoko, Usami, Shin-ichi

Journal:

European Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 183 KB

english, 2003

9

No evidence for DNA copy number change associated with the DUP25 cytogenetic phenotype

Hollox, Edward J, Armour, John A L

Journal:

European Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 50 KB

english, 2003

10

Recurrent triploidy of maternal origin

Brancati, Francesco, Mingarelli, Rita, Dallapiccola, Bruno

Journal:

European Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 55 KB

english, 2003

11

Gene-gene interaction between the monoamine oxidase A gene and solute carrier family 6 (neurotransmitter transporter, noradrenalin) member 2 gene in anorexia nervosa (restrictive subtype)

Urwin, Ruth E, Bennetts, Bruce H, Wilcken, Bridget, Lampropoulos, Basiliki, Beumont, Peter J V, Russell, Janice D, Tanner, Sue L, Nunn, Kenneth P

Journal:

European Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 94 KB

english, 2003

12

Problems in detecting mosaic DNA methylation in Angelman syndrome

Horsthemke, Bernhard, Lich, Christina, Buiting, Karin, Achmann, Roland, Aulehla-Scholz, Christa, Baumer, Alessandra, Bürger, Joachim, Dworniczak, Bernd, Gläser, Dieter, Holinski-Feder, Elke

Journal:

European Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 77 KB

english, 2003

13

Influence of LDL receptor gene mutations and the R3500Q mutation of the apoB gene on lipoprotein phenotype of familial hypercholesterolemic patients from a South European population

Real, José T, Chaves, Felipe J, Ejarque, Ismael, García-García, Ana B, Valldecabres, Carmen, Ascaso, Juan F, Armengod, María E, Carmena, Rafael

Journal:

European Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 128 KB

english, 2003

14

ESHG recommendations on key issues related to the advances in human genetics

Aymé, Ségolène

Journal:

European Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 29 KB

english, 2003

15

Genetic information and testing in insurance and employment: technical, social and ethical issues

Journal:

European Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 47 KB

english, 2003

16

Population genetic screening programmes: technical, social and ethical issues

Journal:

European Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 50 KB

english, 2003

17

Provision of genetic services in Europe: current practices and issues

Journal:

European Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 54 KB

english, 2003

18

Data storage and DNA banking for biomedical research: technical, social and ethical issues

Journal:

European Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 53 KB

english, 2003

19

Author Index to Volume 11

Journal:

European Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 48 KB

english, 2003

20

Keyword Index to Volume 11

Journal:

European Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 34 KB

english, 2003