Volume 13; Issue 9

European Journal of Human Genetics

Volume 13; Issue 9

1

Trisomy 7 mosaicism, maternal uniparental heterodisomy 7 and Hirschsprung's disease in a child with Silver–Russell syndrome

Flori, Elisabeth, Girodon, Emmanuelle, Samama, Brigitte, Becmeur, François, Viville, Brigitte, Girard-Lemaire, Françoise, Doray, Bérénice, Schluth, Caroline, Marcellin, Luc, Boehm, Nelly

Journal:

European Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 110 KB

english, 2005

2

Estrogen receptor beta gene variants are associated with increased risk of Alzheimer's disease in women

Pirskanen, Mia, Hiltunen, Mikko, Mannermaa, Arto, Helisalmi, Seppo, Lehtovirta, Maarit, Hänninen, Tuomo, Soininen, Hilkka

Journal:

European Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 106 KB

english, 2005

3

Paternal deletion of the GNAS imprinted locus (including Gnasxl) in two girls presenting with severe pre- and post-natal growth retardation and intractable feeding difficulties

Geneviève, David, Sanlaville, Damien, Faivre, Laurence, Kottler, Marie-Laure, Jambou, Marguerite, Gosset, Philippe, Boustani-Samara, Dinane, Pinto, Graziella, Ozilou, Catherine, Abeguilé, Geneviève

Journal:

European Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 229 KB

english, 2005

4

Nondisease genetic testing: reporting of muscle SNPs shows effects on self-concept and health orientation scales

Gordon, Erynn S, Gordish-Dressman, Heather A, Devaney, Joseph, Clarkson, Priscilla, Thompson, Paul, Gordon, Paul, Pescatello, Linda S, Hubal, Monica J, Pistilli, Emidio E, Gianetti, Gary

Journal:

European Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 109 KB

english, 2005

5

Communication of pharmacogenetic research results to HIV-infected treated patients: standpoints of professionals and patients

Moutel, Grégoire, Duchange, Nathalie, Raffi, François, Sharara, Lama I, Théodorou, Ioannis, Noël, Violaine, de Montgolfier, Sandrine, Callies, Ingrid, Bricaire, François, Hervé, Christian

Journal:

European Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 104 KB

english, 2005

6

Male-to-male transmission of X-linked Alport syndrome in a boy with a 47,XXY karyotype

Ars, Elisabet, Tazón-Vega, Bárbara, Ruiz, Patricia, Nogués, Carme, Arnedo, Núria, Rajmil, Osvaldo, Torra, Roser

Journal:

European Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 244 KB

english, 2005

7

Combining the case–control methodology with the small size transmission/disequilibrium test for multiallelic markers

Guo, Wei, Fung, Wing K

Journal:

European Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 132 KB

english, 2005

8

Pedigree construction and disease confirmation: a pilot study in Wales exploring the role of nonclinical personnel

Tempest, Vanessa, Iredale, Rachel, Gray, Jonathon, France, Liz, Anstey, Sally, Steward, John

Journal:

European Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 120 KB

english, 2005

9

PINK1, Parkin, and DJ-1 mutations in Italian patients with early-onset parkinsonism

Klein, Christine, Djarmati, Ana, Hedrich, Katja, Schäfer, Nora, Scaglione, Cesa, Marchese, Roberta, Kock, Norman, Schüle, Birgitt, Hiller, Anja, Lohnau, Thora

Journal:

European Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 149 KB

english, 2005

10

Molecular characterisation of patients with subtelomeric 22q abnormalities using chromosome specific array-based comparative genomic hybridisation

Koolen, David A, Reardon, William, Rosser, Elisabeth M, Lacombe, Didier, Hurst, Jane A, Law, Caroline J, Bongers, Ernie M H F, van Ravenswaaij-Arts, Conny M, Leisink, Martijn A R, van Kessel, Ad Geurt

Journal:

European Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 155 KB

english, 2005

11

Ultraconserved regions in multiple sclerosis

Ban, Maria, Maranian, Mel, Yeo, Tai Wai, Gray, Julia, Compston, Alastair, Sawcer, Stephen

Journal:

European Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 47 KB

english, 2005

12

Potential harms, anonymization, and the right to withdraw consent to biobank research

Eriksson, Stefan, Helgesson, Gert

Journal:

European Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 77 KB

english, 2005

13

Polymorphism at 3′ UTR +28 of the prion-like protein gene is associated with sporadic Creutzfeldt–Jakob disease

Jeong, Byung-Hoon, Kim, Nam-Ho, Choi, Eun-Kyoung, Lee, Chaeyoung, Song, Young-Han, Kim, Jae-Il, Carp, Richard I, Arnold, Peter S

Journal:

European Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 84 KB

english, 2005

14

A new edition of a must have handbook for genetic counsellors

Duba, Hans-Christoph

Journal:

European Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 37 KB

english, 2005

15

Partners of mutation-carriers for Huntington's disease: forgotten persons?

Decruyenaere, Marleen, Evers-Kiebooms, Gerry, Boogaerts, Andrea, Demyttenaere, Koen, Dom, René, Fryns, Jean-Pierre

Journal:

European Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 109 KB

english, 2005

16

Molecular subtypes and phenotypic expression of Beckwith–Wiedemann syndrome

Cooper, Wendy N, Luharia, Anita, Evans, Gail A, Raza, Hussain, Haire, Antonita C, Grundy, Richard, Bowdin, Sarah C, Riccio, Andrea, Sebastio, Gianfranco, Bliek, Jet

Journal:

European Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 172 KB

english, 2005

17

Gene Expression: Growing up together may help genes go their separate ways

Parelho, Vania, Merkenschlager, Matthias

Journal:

European Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 64 KB

english, 2005

18

Research Networks: BioSapiens: a European network for integrated genome annotation

Journal:

European Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 163 KB

english, 2005

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