Volume 65; Issue 4

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Clinical Genetics
Volume 65; Issue 4

Clinical Genetics

Volume 65; Issue 4

1

Mutational spectrum in Usher syndrome type II

XM Ouyang, D Yam, JF Hejtmancik, SG Jacobson, AR Li, LL Du, S Angeli, M Kaiser, T Balkany, XZ Liu

Journal:

Clinical Genetics

Year:

2004

Language:

english

File:

PDF, 107 KB

english, 2004

2

Reproductive epigenetics : Section Editors: Roderick R. McInnes, e-mail: mcinnes@sickkids.on.ca Jacques Michaud, e-mail: jmichaud@justine.umontreal.ca

TLJ Kelly, JM Trasler

Journal:

Clinical Genetics

Year:

2004

Language:

english

File:

PDF, 499 KB

english, 2004

3

Erratum

Journal:

Clinical Genetics

Year:

2004

File:

PDF, 30 KB

2004

4

The hunt for BRCA2 interactors scores a big hit: EMSY as a prognostic tool for sporadic breast cancer

Journal:

Clinical Genetics

Year:

2004

Language:

english

File:

PDF, 890 KB

english, 2004

5

From families to genes and back: can a hemochromatosis gene help treat the anemia of chronic disease?

Journal:

Clinical Genetics

Year:

2004

Language:

english

File:

PDF, 890 KB

english, 2004

6

Pyruvate kinase deficiency: providing protection from Plasmodium parasitism

Journal:

Clinical Genetics

Year:

2004

Language:

english

File:

PDF, 890 KB

english, 2004

7

Genetic counseling of medullary breast cancer patients

C Kroupis, E Lianidou, N Goutas, S Vasilaros, D Yannoukakos, M B Petersen

Journal:

Clinical Genetics

Year:

2004

Language:

english

File:

PDF, 60 KB

english, 2004

8

Terminal deletion of the long arm of chromosome 10

S Scigliano, MJ Grégoire, M Schmitt, PH Jonveaux, B LeHeup

Journal:

Clinical Genetics

Year:

2004

Language:

english

File:

PDF, 761 KB

english, 2004

9

The Mainz Severity Score Index: a new instrument for quantifying the Anderson–Fabry disease phenotype, and the response of patients to enzyme replacement therapy

C Whybra, C Kampmann, F Krummenauer, M Ries, E Mengel, E Miebach, F Baehner, K Kim, M Bajbouj, A Schwarting, A Gal, M Beck

Journal:

Clinical Genetics

Year:

2004

Language:

english

File:

PDF, 122 KB

english, 2004

10

Current clinical selection strategies for identification of hereditary non-polyposis colorectal cancer families are inadequate: a meta-analysis

W Kievit, JHFM De Bruin, EMM Adang, MJL Ligtenberg, FM Nagengast, JHJM Van Krieken, N Hoogerbrugge

Journal:

Clinical Genetics

Year:

2004

Language:

english

File:

PDF, 114 KB

english, 2004

11

Molecular diagnosis of hereditary hemochromatosis: application of a newly-developed reverse-hybridization assay in the South African population

MJ Kotze, JNP De Villiers, CSH Bouwens, L Warnich, MG Zaahl, S Van Der Merwe, C Oberkanins

Journal:

Clinical Genetics

Year:

2004

Language:

english

File:

PDF, 171 KB

english, 2004

12

Detection of RAG mutations and prenatal diagnosis in families presenting with either T–B– severe combined immunodeficiency or Omenn's syndrome

U Tabori, Z Mark, N Amariglio, A Etzioni, H Golan, B Biloray, A Toren, G Rechavi, I Dalal

Journal:

Clinical Genetics

Year:

2004

Language:

english

File:

PDF, 159 KB

english, 2004

13

Utilization of prenatal genetic testing by Israeli Moslem women: a national survey

C Sher, O Romano-Zelekha, Ms Green, T Shohat

Journal:

Clinical Genetics

Year:

2004

Language:

english

File:

PDF, 97 KB

english, 2004

14

Cognitive, language, and adaptive behavior profiles in individuals with a diagnosis of Cohen syndrome

J Karpf, J Turk, P Howlin

Journal:

Clinical Genetics

Year:

2004

Language:

english

File:

PDF, 85 KB

english, 2004

15

Novel CFTR mutations in black cystic fibrosis patients

MN Feuillet-Fieux, M Ferrec, N Gigarel, L Thuillier, I Sermet, J Steffann, G Lenoir, JP Bonnefont

Journal:

Clinical Genetics

Year:

2004

Language:

english

File:

PDF, 84 KB

english, 2004

16

Low frequency of myocilin mutations in Indian primary open-angle glaucoma patients

S Sripriya, S Uthra, R Sangeetha, RJ George, A Hemamalini, PG Paul, J Amali, L Vijaya, G Kumaramanickavel

Journal:

Clinical Genetics

Year:

2004

Language:

english

File:

PDF, 87 KB

english, 2004

17

The frequency of GJB2 and GJB6 mutations in the New York State newborn population: feasibility of genetic screening for hearing defects

T Fitzgerald, S Duva, H Ostrer, K Pass, C Oddoux, R Ruben, M Caggana

Journal:

Clinical Genetics

Year:

2004

Language:

english

File:

PDF, 679 KB

english, 2004

18

A new model for prediction of the age of onset and penetrance for Huntington's disease based on CAG length

DR Langbehn, RR Brinkman, D Falush, JS Paulsen, MR Hayden, on behalf of an International Huntington's Disease Collaborative Group

Journal:

Clinical Genetics

Year:

2004

Language:

english

File:

PDF, 268 KB

english, 2004

19

Announcement

Journal:

Clinical Genetics

Year:

2004

Language:

english

File:

PDF, 32 KB

english, 2004