Volume 42; Issue 3

Journal of Medical Genetics

Volume 42; Issue 3

1

Association of partial AZFc region deletions with spermatogenic impairment and male infertility

Journal:

Journal of Medical Genetics

Year:

2005

Language:

english

File:

PDF, 136 KB

english, 2005

2

The genetics of schizophrenia and bipolar disorder: dissecting psychosis

Journal:

Journal of Medical Genetics

Year:

2005

Language:

english

File:

PDF, 189 KB

english, 2005

3

Complete allelic analysis of BRCA1 and BRCA2 variants in young Nigerian breast cancer patients

Fackenthal, J D

Journal:

Journal of Medical Genetics

Year:

2005

Language:

english

File:

PDF, 110 KB

english, 2005

4

Reappraisal of the historical selective pressures for the CCR5- 32 mutation

Journal:

Journal of Medical Genetics

Year:

2005

Language:

english

File:

PDF, 131 KB

english, 2005

5

MMP-20 mutation in autosomal recessive pigmented hypomaturation amelogenesis imperfecta

Journal:

Journal of Medical Genetics

Year:

2005

Language:

english

File:

PDF, 206 KB

english, 2005

6

Hereditary Hearing Loss and its Syndromes, 2nd edn

Journal:

Journal of Medical Genetics

Year:

2005

Language:

english

File:

PDF, 48 KB

english, 2005

7

Homozygosity for a frequent and weakly penetrant predisposing allele at the RET locus in sporadic Hirschsprung disease

Journal:

Journal of Medical Genetics

Year:

2005

Language:

english

File:

PDF, 70 KB

english, 2005

8

Association of oestrogen receptor gene polymorphisms with postmenopausal bone loss, bone mass, and quantitative ultrasound properties of bone

Journal:

Journal of Medical Genetics

Year:

2005

Language:

english

File:

PDF, 153 KB

english, 2005

9

CORRECTION

Journal:

Journal of Medical Genetics

Year:

2005

Language:

english

File:

PDF, 41 KB

english, 2005

10

Assignment of a new congenital fibrosis of extraocular muscles type 3 (CFEOM3) locus, FEOM4, based on a balanced translocation t(2;13) (q37.3;q12.11) and identification of candidate genes

Journal:

Journal of Medical Genetics

Year:

2005

Language:

english

File:

PDF, 293 KB

english, 2005

11

Confirmation of the association of the R620W polymorphism in the protein tyrosine phosphatase PTPN22 with type 1 diabetes in a family based study

Journal:

Journal of Medical Genetics

Year:

2005

Language:

english

File:

PDF, 136 KB

english, 2005

12

Homozygosity mapping of autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy (CMT4H) to a novel locus on chromosome 12p11.21-q13.11

Sandre-Giovannoli, A D.

Journal:

Journal of Medical Genetics

Year:

2005

Language:

english

File:

PDF, 170 KB

english, 2005

13

A missense mutation in the type II hair keratin hHb3 is associated with monilethrix

van Steensel, M A M

Journal:

Journal of Medical Genetics

Year:

2005

Language:

english

File:

PDF, 123 KB

english, 2005

14

Prevalence and phenotype of subjects carrying rare variants in the Italian registry for alpha1-antitrypsin deficiency

Journal:

Journal of Medical Genetics

Year:

2005

Language:

english

File:

PDF, 226 KB

english, 2005

15

A survey of haplotype variants at several disease candidate genes: the importance of rare variants for complex diseases

Journal:

Journal of Medical Genetics

Year:

2005

Language:

english

File:

PDF, 145 KB

english, 2005

16

CORRECTION

Journal:

Journal of Medical Genetics

Year:

2005

Language:

english

File:

PDF, 48 KB

english, 2005

17

CORRECTION

Journal:

Journal of Medical Genetics

Year:

2005

Language:

english

File:

PDF, 48 KB

english, 2005

18

Linkage to the FOXC2 region of chromosome 16 for varicose veins in otherwise healthy, unselected sibling pairs

Journal:

Journal of Medical Genetics

Year:

2005

Language:

english

File:

PDF, 99 KB

english, 2005

19

Effects of enzyme replacement therapy on pain and health related quality of life in patients with Fabry disease: data from FOS (Fabry Outcome Survey)

Journal:

Journal of Medical Genetics

Year:

2005

Language:

english

File:

PDF, 110 KB

english, 2005

20

Lamin A N-terminal phosphorylation is associated with myoblast activation: impairment in Emery-Dreifuss muscular dystrophy

Journal:

Journal of Medical Genetics

Year:

2005

Language:

english

File:

PDF, 256 KB

english, 2005

21

Vitamin D receptor gene polymorphisms are linked to and associated with adult height

Journal:

Journal of Medical Genetics

Year:

2005

Language:

english

File:

PDF, 127 KB

english, 2005

22

Phenotypic expression of double heterozygosity for BRCA1 and BRCA2 germline mutations

Journal:

Journal of Medical Genetics

Year:

2005

Language:

english

File:

PDF, 128 KB

english, 2005