Volume 63; Issue 3

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Clinical Genetics
Volume 63; Issue 3

Clinical Genetics

Volume 63; Issue 3

1

Genetic control of serum IgE levels: a study of low molecular weight protein tyrosine phosphatase

N Bottini, A Otsu, P Borgiani, P Saccucci, L Stefanini, E Greco, L Fontana, JM Hopkins, X-Q Mao

Journal:

Clinical Genetics

Year:

2003

Language:

english

File:

PDF, 92 KB

english, 2003

2

The R608del mutation in the acid sphingomyelinase gene (SMPD1) is the most prevalent among patients from Gran Canaria Island with Niemann-Pick disease type B

Journal:

Clinical Genetics

Year:

2003

Language:

english

File:

PDF, 132 KB

english, 2003

3

The allelic loss of chromosome 3p25 with c-myc gain is related to the development of clear-cell renal cell carcinoma

S Yamaguchi, S Yoshihiro, H Matsuyama, K Nagao, K Fukunaga, H Matsumoto, K Matsuda, K Oba, K Naito

Journal:

Clinical Genetics

Year:

2003

Language:

english

File:

PDF, 132 KB

english, 2003

4

The natural history of sclerosteosis

H Hamersma, J Gardner, P Beighton

Journal:

Clinical Genetics

Year:

2003

Language:

english

File:

PDF, 1.30 MB

english, 2003

5

De novo translocation (1; 2)(q32; p25) associated with bilateral renal dysplasia

Journal:

Clinical Genetics

Year:

2003

Language:

english

File:

PDF, 60 KB

english, 2003

6

Genetic counseling for prostate cancer risk

AM Nieder, SS Taneja, MPA Zeegers, H Ostrer

Journal:

Clinical Genetics

Year:

2003

Language:

english

File:

PDF, 107 KB

english, 2003

7

Genetic counselling protocols for hereditary non-polyposis colorectal cancer: a survey of UK regional genetics centres

K Brain, J Soldan, J Sampson, J Gray

Journal:

Clinical Genetics

Year:

2003

Language:

english

File:

PDF, 106 KB

english, 2003

8

Identification of a deletion in the mismatch repair gene, MSH2, using mouse–human cell hybrids monosomal for chromosome 2

RE Pyatt, H Nakagawa, H Hampel, M Sedra, MB Fuchik, I Comeras, A De La Chapelle, TW Prior

Journal:

Clinical Genetics

Year:

2003

Language:

english

File:

PDF, 516 KB

english, 2003

9

Effects of a promoter variation in the hepatic glucokinase gene on promoter activity and glucose tolerance in Southern Chinese subjects

Journal:

Clinical Genetics

Year:

2003

Language:

english

File:

PDF, 74 KB

english, 2003

10

Updated investigations of the role of methylenetetrahydrofolate reductase in human neural tube defects

E Rampersaud, EC Melvin, D Siegel, L Mehltretter, ME Dickerson, TM George, D Enterline, JS Nye, MC Speer, the NTD Collaborative Group

Journal:

Clinical Genetics

Year:

2003

Language:

english

File:

PDF, 87 KB

english, 2003

11

Segregation of the V804L mutation and S836S polymorphism of exon 14 of the RET gene in an extended kindred with familial medullary thyroid cancer

A Patócs, Z Valkusz, P Igaz, K Balogh, M Tóth, I Varga, K Rácz

Journal:

Clinical Genetics

Year:

2003

Language:

english

File:

PDF, 119 KB

english, 2003

12

Ehlers–Danlos syndrome type IV: unusual congenital anomalies in a mother and son with a COL3A1 mutation and a normal collagen III protein profile

HY Kroes, G Pals, AJ Van Essen

Journal:

Clinical Genetics

Year:

2003

Language:

english

File:

PDF, 286 KB

english, 2003

13

Two novel mutations in the α-galactosidase A gene in Chinese patients with Fabry disease

C-C Yang, L-W Lai, O Whitehair, W-L Hwu, S-C Chiang, Y-HH Lien

Journal:

Clinical Genetics

Year:

2003

Language:

english

File:

PDF, 142 KB

english, 2003

14

Glucocerebrosidase mutation T369M appears to be another polymorphism

Journal:

Clinical Genetics

Year:

2003

Language:

english

File:

PDF, 103 KB

english, 2003

15

A spectrum of neurological phenotypes caused by mutations in the X-linked aristaless-related homeobox gene, ARX

Journal:

Clinical Genetics

Year:

2003

Language:

english

File:

PDF, 454 KB

english, 2003

16

Defective regulation of extracellular ion homeostasis causes peripheral neuropathy associated with agenesis of the corpus callosum

Journal:

Clinical Genetics

Year:

2003

Language:

english

File:

PDF, 454 KB

english, 2003

17

Violence begets violence; or does it? A brain enzyme protects victims of childhood abuse from becoming antisocial and criminal

Journal:

Clinical Genetics

Year:

2003

Language:

english

File:

PDF, 454 KB

english, 2003