Volume 63; Issue 2

Main
Clinical Genetics
Volume 63; Issue 2

Clinical Genetics

Volume 63; Issue 2

1

Identification of a novel BMPR1A germline mutation in a Korean juvenile polyposis patient without SMAD4 mutation

I-J Kim, J-H Park, HC Kang, K-H Kim, J-H Kim, J-L Ku, S-B Kang, SY Park, J-S Lee, J-G Park

Journal:

Clinical Genetics

Year:

2003

Language:

english

File:

PDF, 159 KB

english, 2003

2

Sporadic and familial blepharophimosis –ptosis–epicanthus inversus syndrome: FOXL2 mutation screen and MRI study of the superior levator eyelid muscle

H Dollfus, C Stoetzel, S Riehm, W Lahlou Boukoffa, F Bediard Boulaneb, R Quillet, M Abu-Eid, C Speeg-Schatz, JJ Francfort, J Flament, F Veillon, F Perrin-Schmitt

Journal:

Clinical Genetics

Year:

2003

Language:

english

File:

PDF, 1010 KB

english, 2003

3

Cystic fibrosis mutation frequencies in an Irish population

J Devaney, M Glennon, G Farrell, M Ruttledge, T Smith, JA Houghton, M Maher

Journal:

Clinical Genetics

Year:

2003

Language:

english

File:

PDF, 108 KB

english, 2003

4

A novel mutation in exon 7 in a family with mild tricho–rhino–phalangeal syndrome type I

Journal:

Clinical Genetics

Year:

2003

Language:

english

File:

PDF, 146 KB

english, 2003

5

The PPAR-gamma P12A polymorphism modulates the relationship between dietary fat intake and components of the metabolic syndrome: results from the Québec Family Study

J Robitaille, J-P Després, L Pérusse, M-C Vohl

Journal:

Clinical Genetics

Year:

2003

Language:

english

File:

PDF, 129 KB

english, 2003

6

Rapid detection methods for five HGO gene mutations causing alkaptonuria

A Zatkova, A Chmelikova, H Polakova, E Ferakova, L Kadasi

Journal:

Clinical Genetics

Year:

2003

Language:

english

File:

PDF, 158 KB

english, 2003

7

Absence of overt iron overload in two individuals compound heterozygotes for a 22 base pair deletion of exon 2 and the C282Y missense mutation of the HFE gene

Journal:

Clinical Genetics

Year:

2003

Language:

english

File:

PDF, 76 KB

english, 2003

8

The I allele of the angiotensin-converting enzyme gene is associated with an increased percentage of slow-twitch type I fibers in human skeletal muscle

B Zhang, H Tanaka, N Shono, S Miura, A Kiyonaga, M Shindo, K Saku

Journal:

Clinical Genetics

Year:

2003

Language:

english

File:

PDF, 388 KB

english, 2003

9

Landmarks in genetics through philately: the tools used by dysmorphologists

Journal:

Clinical Genetics

Year:

2003

Language:

english

File:

PDF, 3.44 MB

english, 2003

10

Mutation analysis of Connexin 31 (GJB3) in sporadic non-syndromic hearing impairment

AN Mhatre, E Weld, AK Lalwani

Journal:

Clinical Genetics

Year:

2003

Language:

english

File:

PDF, 189 KB

english, 2003

11

Biallelic inactivation of BRCA2 in Fanconi anemia Howlet NG et al. (2002) Science 297: 606–609

Journal:

Clinical Genetics

Year:

2003

Language:

english

File:

PDF, 68 KB

english, 2003

12

BRCA1 interacts directly with the Fanconi anemia protein FANCA Folias A et al. (2002) Hum Mol Genet 11: 2591–2597

Journal:

Clinical Genetics

Year:

2003

Language:

english

File:

PDF, 68 KB

english, 2003

13

DNA crosslink-dependent RAD50/MRE11/NBS1 subnuclear assembly requires the Fanconi anemia C protein Pichierri P et al. (2002) Hum Mol Genet 11: 2531–2546

Journal:

Clinical Genetics

Year:

2003

Language:

english

File:

PDF, 68 KB

english, 2003

14

Genetic epidemiology of amyotrophic lateral sclerosis

D Majoor-Krakauer, PJ Willems, A Hofman

Journal:

Clinical Genetics

Year:

2003

Language:

english

File:

PDF, 174 KB

english, 2003

15

Aortic root diameter and nasal intermittent positive airway pressure treatment in Marfan's syndrome

J Verbraecken, BP Paelinck, M Willemen, P Van de Heyning, W De Backer

Journal:

Clinical Genetics

Year:

2003

Language:

english

File:

PDF, 69 KB

english, 2003

16

USH1C: a rare cause of USH1 in a non-Acadian population and a founder effect of the Acadian allele

XM Ouyang, JF Hejtmancik, SG Jacobson, XJ Xia, A Li, LL Du, V Newton, M Kaiser, T Balkany, WE Nance, X-Z Liu

Journal:

Clinical Genetics

Year:

2003

Language:

english

File:

PDF, 86 KB

english, 2003

17

CARD15/NOD2 mutational analysis in Japanese patients with Crohn's disease

M Sugimura, Y Kinouchi, S Takahashi, H Aihara, S Takagi, K Negoro, N Obana, Y Kojima, K Matsumoto, T Kikuchi, M Hiroki, S Oomori, T Shimosegawa

Journal:

Clinical Genetics

Year:

2003

Language:

english

File:

PDF, 58 KB

english, 2003

18

Ileal adenocarcinoma in a mild phenotype of abetalipoproteinemia

K Al-Shali, J Wang, F Rosen, RA Hegele

Journal:

Clinical Genetics

Year:

2003

Language:

english

File:

PDF, 154 KB

english, 2003