Volume 39; Issue 11

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Journal of Medical Genetics
Volume 39; Issue 11

Journal of Medical Genetics

Volume 39; Issue 11

1

High throughput screening of human subtelomeric DNA for copy number changes using multiplex amplifiable probe hybridisation (MAPH)

Journal:

Journal of Medical Genetics

Year:

2002

Language:

english

File:

PDF, 252 KB

english, 2002

2

Identification of novel CLN2 mutations shows Canadian specific NCL2 alleles

Journal:

Journal of Medical Genetics

Year:

2002

Language:

english

File:

PDF, 150 KB

english, 2002

3

Screening for microsatellite instability target genes in colorectal cancers

Journal:

Journal of Medical Genetics

Year:

2002

Language:

english

File:

PDF, 215 KB

english, 2002

4

CYS127S (FH-Kairouan) and D245N (FH-Tozeur) mutations in the LDL receptor gene in Tunisian families with familial hypercholesterolaemia

Journal:

Journal of Medical Genetics

Year:

2002

Language:

english

File:

PDF, 262 KB

english, 2002

5

Continuous medical education approaches for clinical genetics: a postal survey of general practitioners

Journal:

Journal of Medical Genetics

Year:

2002

Language:

english

File:

PDF, 143 KB

english, 2002

6

No association between HOXA1 and HOXB1 genes and autism spectrum disorders (ASD)

Journal:

Journal of Medical Genetics

Year:

2002

Language:

english

File:

PDF, 181 KB

english, 2002

7

Splice mutation 1811+1.6kbA>G causes severe cystic fibrosis with pancreatic insufficiency: report of 11 compound heterozygous and two homozygous patients

Journal:

Journal of Medical Genetics

Year:

2002

Language:

english

File:

PDF, 139 KB

english, 2002

8

Family history of breast cancer as a determinant of the risk of developing endometrial cancer: a nationwide cohort study

Journal:

Journal of Medical Genetics

Year:

2002

Language:

english

File:

PDF, 192 KB

english, 2002

9

Protein losing enteropathy-hepatic fibrosis syndrome in Saguenay-Lac St-Jean, Quebec is a congenital disorder of glycosylation type Ib

Vuillaumier-Barrot, S

Journal:

Journal of Medical Genetics

Year:

2002

Language:

english

File:

PDF, 183 KB

english, 2002

10

Monozygotic twins with chromosome 22q11 deletion and discordant phenotypes: updates with an epigenetic hypothesis

Journal:

Journal of Medical Genetics

Year:

2002

Language:

english

File:

PDF, 123 KB

english, 2002

11

De novo GLI3 mutation in acrocallosal syndrome: broadening the phenotypic spectrum of GLI3 defects and overlap with murine models

Journal:

Journal of Medical Genetics

Year:

2002

Language:

english

File:

PDF, 137 KB

english, 2002

12

Bar code screening on combed DNA for large rearrangements of the BRCA1 and BRCA2 genes in French breast cancer families

Journal:

Journal of Medical Genetics

Year:

2002

Language:

english

File:

PDF, 321 KB

english, 2002

13

Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss

Journal:

Journal of Medical Genetics

Year:

2002

Language:

english

File:

PDF, 532 KB

english, 2002

14

Promoter polymorphisms in the CD14 receptor gene and their potential association with the severity of chronic periodontitis

Journal:

Journal of Medical Genetics

Year:

2002

Language:

english

File:

PDF, 274 KB

english, 2002

15

Two novel frameshift mutations in NKX2.5 result in novel features including visceral inversus and sinus venosus type ASD

Journal:

Journal of Medical Genetics

Year:

2002

Language:

english

File:

PDF, 217 KB

english, 2002

16

Genetic testing in hereditary non-polyposis colorectal cancer families with a MSH2, MLH1, or MSH6 mutation

Journal:

Journal of Medical Genetics

Year:

2002

Language:

english

File:

PDF, 235 KB

english, 2002

17

Linkage to 18qter differentiates two clinically overlapping syndromes: congenital cataracts-facial dysmorphism-neuropathy (CCFDN) syndrome and Marinesco-Sjogren syndrome

Lagier-Tourenne, C

Journal:

Journal of Medical Genetics

Year:

2002

Language:

english

File:

PDF, 266 KB

english, 2002

18

Severe digital abnormalities in a patient heterozygous for both a novel missense mutation in HOXD13 and a polyalanine tract expansion in HOXA13

Journal:

Journal of Medical Genetics

Year:

2002

Language:

english

File:

PDF, 213 KB

english, 2002

19

Behavioural complaints in participants who underwent predictive testing for Huntington's disease

Witjes-Ane, M-N W

Journal:

Journal of Medical Genetics

Year:

2002

Language:

english

File:

PDF, 228 KB

english, 2002

20

Your Genetic Destiny: Know Your Genes, Secure your Health, Save Your Life: Aubrey Milunsky. Oxford: Perseus Publishing. 2001. ISDN 0738203777.

Journal:

Journal of Medical Genetics

Year:

2002

Language:

english

File:

PDF, 120 KB

english, 2002

21

Mosaicism for duplication 12q (12q13->12q21.2) accompanied by a pericentric inversion in a dysmorphic female infant

Journal:

Journal of Medical Genetics

Year:

2002

Language:

english

File:

PDF, 173 KB

english, 2002

22

Childhood onset mitochondrial myopathy and lactic acidosis caused by a stop mutation in the mitochondrial cytochrome c oxidase III gene

Journal:

Journal of Medical Genetics

Year:

2002

Language:

english

File:

PDF, 237 KB

english, 2002

23

Hereditary ovarian cancer resulting from a non-ovarian cancer cluster region (OCCR) BRCA2 mutation: is the OCCR useful clinically?

Journal:

Journal of Medical Genetics

Year:

2002

Language:

english

File:

PDF, 134 KB

english, 2002