Volume 71; Issue 5

Main
Clinical Genetics
Volume 71; Issue 5

Clinical Genetics

Volume 71; Issue 5

1

Germline mutations in APC and MUTYH are responsible for the majority of families with attenuated familial adenomatous polyposis

M Nielsen, FJ Hes, FM Nagengast, MM Weiss, EM Mathus-Vliegen, H Morreau, MH Breuning, JT Wijnen, CMJ Tops, HFA Vasen

Journal:

Clinical Genetics

Year:

2007

Language:

english

File:

PDF, 122 KB

english, 2007

2

RMRP mutations in hematological disorders

SA Graf, RT Calado, S Kajigaya, NS Young

Journal:

Clinical Genetics

Year:

2007

Language:

english

File:

PDF, 72 KB

english, 2007

3

Genetic counselling and consent for tumour testing in HNPCC

CL Gaff, MT Rogers, IM Frayling

Journal:

Clinical Genetics

Year:

2007

Language:

english

File:

PDF, 87 KB

english, 2007

4

The Ala53Thr mutation in the α-synuclein gene in a Korean family with Parkinson disease

C-S Ki, EF Stavrou, N Davanos, WY Lee, EJ Chung, J-Y Kim, A Athanassiadou

Journal:

Clinical Genetics

Year:

2007

Language:

english

File:

PDF, 123 KB

english, 2007

5

Newborn screening for mucopolysaccharidoses: opinions of patients and their families

IM Hayes, V Collins, M Sahhar, JE Wraith, MB Delatycki

Journal:

Clinical Genetics

Year:

2007

Language:

english

File:

PDF, 80 KB

english, 2007

6

The Huntington’s Disease quality of life battery for carers: reliability and validity

A Aubeeluck, H Buchanan

Journal:

Clinical Genetics

Year:

2007

Language:

english

File:

PDF, 126 KB

english, 2007

7

Contribution of the CFTR gene, the pancreatic secretory trypsin inhibitor gene (SPINK1) and the cationic trypsinogen gene (PRSS1) to the etiology of recurrent pancreatitis

M Tzetis, M Kaliakatsos, M Fotoulaki, A Papatheodorou, S Doudounakis, A Tsezou, P Makrythanasis, E Kanavakis, S Nousia-Arvanitakis

Journal:

Clinical Genetics

Year:

2007

Language:

english

File:

PDF, 105 KB

english, 2007

8

MEFV alterations and population genetics analysis in a large cohort of Greek patients with familial Mediterranean fever

S Giaglis, V Papadopoulos, K Kambas, M Doumas, V Tsironidou, S Rafail, G Kartalis, M Speletas, K Ritis

Journal:

Clinical Genetics

Year:

2007

Language:

english

File:

PDF, 193 KB

english, 2007

9

Current status of thalassemia in minority populations in Guangxi, China

HF Pan, GF Long, Q Li, YN Feng, ZY Lei, HW Wei, YY Huang, JH Huang, N Lin, QQ Xu, SY Ling, XJ Chen, T Huang

Journal:

Clinical Genetics

Year:

2007

Language:

english

File:

PDF, 186 KB

english, 2007

10

Clinical findings and molecular characterization of six subtelomeric imbalances

C Orellana, S Monfort, M Roselló, S Oltra, F Martínez

Journal:

Clinical Genetics

Year:

2007

Language:

english

File:

PDF, 298 KB

english, 2007

11

Single-nucleotide polymorphisms in the COL1A1 regulatory regions are associated with otosclerosis

W Chen, NC Meyer, MJ McKenna, M Pfister, DJ McBride Jr, K Fukushima, M Thys, GV Camp, RJH Smith

Journal:

Clinical Genetics

Year:

2007

Language:

english

File:

PDF, 342 KB

english, 2007

12

The common genetic variant upstream of INSIG2 gene is not associated with obesity in Indian population

J Kumar, RR Sunkishala, G Karthikeyan, S Sengupta

Journal:

Clinical Genetics

Year:

2007

Language:

english

File:

PDF, 102 KB

english, 2007

13

A new familial mutation (R133G) in the SRY gene

D Plaseska-Karanfilska, P Noveski, K Kuzevska, N Basheska, M Kocova, GD Efremov

Journal:

Clinical Genetics

Year:

2007

Language:

english

File:

PDF, 159 KB

english, 2007

14

An overview of isolated and syndromic oesophageal atresia

D Geneviève, L De Pontual, J Amiel, S Sarnacki, S Lyonnet

Journal:

Clinical Genetics

Year:

2007

Language:

english

File:

PDF, 200 KB

english, 2007

15

Mitochondrial deafness

H Kokotas, MB Petersen, PJ Willems

Journal:

Clinical Genetics

Year:

2007

Language:

english

File:

PDF, 192 KB

english, 2007