Volume 39; Issue 10

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Journal of Medical Genetics
Volume 39; Issue 10

Journal of Medical Genetics

Volume 39; Issue 10

1

SDHB mutation analysis in familial and sporadic phaeochromocytoma identifies a novel mutation

Journal:

Journal of Medical Genetics

Year:

2002

Language:

english

File:

PDF, 140 KB

english, 2002

2

Cytogenetic analysis of spermatozoa from males aged between 47 and 71 years

Journal:

Journal of Medical Genetics

Year:

2002

Language:

english

File:

PDF, 145 KB

english, 2002

3

Homozygosity mapping of a Dyggve-Melchior-Clausen syndrome gene to chromosome 18q21.1

Thauvin-Robinet, C

Journal:

Journal of Medical Genetics

Year:

2002

Language:

english

File:

PDF, 471 KB

english, 2002

4

Fragile X Syndrome - Diagnosis, Treatment and Research: Third edition. Editors Randi Jenssen Hagerman, Paul J Hagerman. pound65.50 HB, pound31.00 PB. Baltimore: The Johns Hopkins University Press. 2002. ISBN 0-8018-6844-0.

Journal:

Journal of Medical Genetics

Year:

2002

Language:

english

File:

PDF, 139 KB

english, 2002

5

Education improves general practitioner (GP) management of familial breast/ovarian cancer: findings from a cluster randomised controlled trial

Journal:

Journal of Medical Genetics

Year:

2002

Language:

english

File:

PDF, 198 KB

english, 2002

6

Prevalence of mutations in the short stature homeobox containing gene (SHOX) in Madelung deformity of childhood

Journal:

Journal of Medical Genetics

Year:

2002

Language:

english

File:

PDF, 308 KB

english, 2002

7

Heterozygous P250L mutation of fibroblast growth factor receptor 3 in a case of isolated craniosynostosis

Journal:

Journal of Medical Genetics

Year:

2002

Language:

english

File:

PDF, 205 KB

english, 2002

8

Streptococcal infection distinguishes different types of psoriasis

Journal:

Journal of Medical Genetics

Year:

2002

Language:

english

File:

PDF, 131 KB

english, 2002

9

Molecular screening for Smith-Magenis syndrome among patients with mental retardation of unknown cause

Journal:

Journal of Medical Genetics

Year:

2002

Language:

english

File:

PDF, 462 KB

english, 2002

10

Description and functional analysis of a novel in frame mutation linked to hereditary non-polyposis colorectal cancer

Journal:

Journal of Medical Genetics

Year:

2002

Language:

english

File:

PDF, 176 KB

english, 2002

11

Coffin-Lowry syndrome: clinical and molecular features

Journal:

Journal of Medical Genetics

Year:

2002

Language:

english

File:

PDF, 438 KB

english, 2002

12

Oxford Medical Databases: London Dysmorphology Database Version 3.0. London Neurogenetics Database Version 3.0. Dysmorphology Photo Library on CD-ROM Version 3.0: R M Winter, M Baraitser. (CD, pound1595.00.) Oxford: Oxford University Press 2001. ISBN 0198510780.

Journal:

Journal of Medical Genetics

Year:

2002

Language:

english

File:

PDF, 152 KB

english, 2002

13

Pure terminal duplication of the short arm of chromosome 19 in a boy with mild microcephaly

Journal:

Journal of Medical Genetics

Year:

2002

Language:

english

File:

PDF, 123 KB

english, 2002

14

Genetic testing and genetic counselling in hypertrophic cardiomyopathy: the French experience

Journal:

Journal of Medical Genetics

Year:

2002

Language:

english

File:

PDF, 317 KB

english, 2002

15

Supernumerary marker chromosomes (SMC) and uniparental disomy (UPD): coincidence or consequence?

Journal:

Journal of Medical Genetics

Year:

2002

Language:

english

File:

PDF, 158 KB

english, 2002

16

Familial expansile osteolysis in a large Spanish kindred resulting from an insertion mutation in the TNFRSF11A gene

Journal:

Journal of Medical Genetics

Year:

2002

Language:

english

File:

PDF, 177 KB

english, 2002

17

A rare case of a de novo dup(19q) associated with a mild phenotype

Journal:

Journal of Medical Genetics

Year:

2002

Language:

english

File:

PDF, 102 KB

english, 2002

18

Autosomal recessive primary microcephaly: an analysis of locus heterogeneity and phenotypic variation

Journal:

Journal of Medical Genetics

Year:

2002

Language:

english

File:

PDF, 200 KB

english, 2002

19

A novel aberrant splice site mutation in the APC gene

Journal:

Journal of Medical Genetics

Year:

2002

Language:

english

File:

PDF, 281 KB

english, 2002

20

Variant of endothelial nitric oxide synthase gene determines severity of atherosclerosis

Journal:

Journal of Medical Genetics

Year:

2002

Language:

english

File:

PDF, 200 KB

english, 2002

21

Germline MSH2 and MLH1 mutational spectrum in HNPCC families from Poland and the Baltic States

Journal:

Journal of Medical Genetics

Year:

2002

Language:

english

File:

PDF, 224 KB

english, 2002

22

Novel homozygous mutation in the alpha subunit of the rod cGMP gated channel (CNGA1) in two Spanish sibs affected with autosomal recessive retinitis pigmentosa

Journal:

Journal of Medical Genetics

Year:

2002

Language:

english

File:

PDF, 286 KB

english, 2002

23

8p23 duplication reconsidered: is it a true euchromatic variant with no clinical manifestation?

Journal:

Journal of Medical Genetics

Year:

2002

Language:

english

File:

PDF, 208 KB

english, 2002

24

"Molecular rulers" for calibrating phenotypic effects of telomere imbalance

Journal:

Journal of Medical Genetics

Year:

2002

Language:

english

File:

PDF, 218 KB

english, 2002

25

Constitutional alterations of the ATM gene in early onset sporadic breast cancer

Journal:

Journal of Medical Genetics

Year:

2002

Language:

english

File:

PDF, 171 KB

english, 2002

26

Myotonic Dystrophy: 3rd ed. Major Problems in Neurology Series. Peter S Harper. (pound55.00.) London: Harcourt. 2001. ISBN 0 7020 21520

Journal:

Journal of Medical Genetics

Year:

2002

Language:

english

File:

PDF, 152 KB

english, 2002

27

A novel atypical 22q11.2 distal deletion in father and son

Garcia-Minaur, S

Journal:

Journal of Medical Genetics

Year:

2002

Language:

english

File:

PDF, 332 KB

english, 2002

28

The Century of Mendelism: Editors Robert A Peel, John Timson. London: The Galton Institute. 2000. ISBN 0 950 40666 X.

Journal:

Journal of Medical Genetics

Year:

2002

Language:

english

File:

PDF, 152 KB

english, 2002

29

Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy

Van Maldergem, L

Journal:

Journal of Medical Genetics

Year:

2002

Language:

english

File:

PDF, 1.07 MB

english, 2002