Volume 67; Issue 6

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Clinical Genetics
Volume 67; Issue 6

Clinical Genetics

Volume 67; Issue 6

1

Consanguineous marriages in Jordan: why is the rate changing with time?

H Hamamy, L Jamhawi, J Al-Darawsheh, K Ajlouni

Journal:

Clinical Genetics

Year:

2005

Language:

english

File:

PDF, 90 KB

english, 2005

2

X-linked mental retardation: further lumping, splitting and emerging phenotypes

T Kleefstra, BCJ Hamel

Journal:

Clinical Genetics

Year:

2005

Language:

english

File:

PDF, 652 KB

english, 2005

3

Analysis of CRELD1 as a candidate 3p25 atrioventicular septal defect locus (AVSD2)

M Zatyka, M Priestley, E J Ladusans, A E Fryer, J Mason, F Latif, E R Maher

Journal:

Clinical Genetics

Year:

2005

Language:

english

File:

PDF, 243 KB

english, 2005

4

Homozygosity for L997F in a child with normal clinical and chloride secretory phenotype provides evidence that this Cystic Fibrosis Transmembrane Conductance Regulator mutation does not cause cystic fibrosis

N. Derichs, A. Schuster, I. Grund, A. Ernsting, C. Stolpe, S. Körtge-Jung, S. Gallati, M. Stuhrmann, P. Kozlowski, M. Ballmann

Journal:

Clinical Genetics

Year:

2005

Language:

english

File:

PDF, 76 KB

english, 2005

5

Molecular screening for microdeletions at 9p22-p24 and 11q23-q24 in a large cohort of patients with trigonocephaly

FS Jehee, D Johnson, LG Alonso, DP Cavalcanti, E De Sá Moreira, FL Alberto, F Kok, C Kim, SA Wall, EW Jabs, SA Boyadjiev, AOM Wilkie, MR Passos-Bueno

Journal:

Clinical Genetics

Year:

2005

Language:

english

File:

PDF, 395 KB

english, 2005

6

Communication about genetic testing in families of male BRCA1/2 carriers and non-carriers: patterns, priorities and problems

N Hallowell, A Ardern-Jones, R Eeles, C Foster, A Lucassen, C Moynihan, M Watson

Journal:

Clinical Genetics

Year:

2005

Language:

english

File:

PDF, 124 KB

english, 2005

7

Mutations found within exon 1 of MECP2 in Danish patients with Rett syndrome

Journal:

Clinical Genetics

Year:

2005

Language:

english

File:

PDF, 131 KB

english, 2005

8

Refinement of the chromosome 16 locus for benign familial infantile convulsions

PMC Callenbach, EH Van Den Boogerd, RFM De Coo, R Ten Houten, JC Oosterwijk, G Hageman, RR Frants, OF Brouwer, AMJM Van Den Maagdenberg

Journal:

Clinical Genetics

Year:

2005

Language:

english

File:

PDF, 145 KB

english, 2005

9

Demented flies? using Drosophila to model human neurodegenerative diseases : Section Editors: Roderick R. McInnes, email: mcinnes@sickkids.ca Jacques Michaud, email: jmichaud@justine.umontreal.ca

K Michno, D Van De Hoef, H Wu, GL Boulianne

Journal:

Clinical Genetics

Year:

2005

Language:

english

File:

PDF, 186 KB

english, 2005

10

Psychological and genetic counseling implications for adolescent daughters of mothers with breast cancer

M. Cappelli, S. Verma, Y. Korneluk, A. Hunter, E. Tomiak, J. Allanson, C. DeGrasse, L. Corsini, L. Humphreys

Journal:

Clinical Genetics

Year:

2005

Language:

english

File:

PDF, 126 KB

english, 2005

11

Introduction to Social and Behavioural Research in Genetics

Michael R. Hayden, Barbara Biesecker

Journal:

Clinical Genetics

Year:

2005

Language:

english

File:

PDF, 40 KB

english, 2005

12

Corrigendum

Journal:

Clinical Genetics

Year:

2005

File:

PDF, 33 KB

2005

13

Common inactivating mutations in PCSK9 cause low LDL cholesterol

Journal:

Clinical Genetics

Year:

2005

Language:

english

File:

PDF, 435 KB

english, 2005

14

Is mitochondrial dysfunction a unifying feature of the metabolic syndrome?

Journal:

Clinical Genetics

Year:

2005

Language:

english

File:

PDF, 435 KB

english, 2005

15

A heavy cross (over) to bear

Journal:

Clinical Genetics

Year:

2005

Language:

english

File:

PDF, 435 KB

english, 2005