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Volume 78; Issue 5
Main
Clinical Genetics
Volume 78; Issue 5
Clinical Genetics
Volume 78; Issue 5
1
Molecular characterization of five patients with homocystinuria due to severe methylenetetrahydrofolate reductase deficiency
R Urreizti
,
AA Moya-García
,
A Pino-Ángeles
,
M Cozar
,
A Langkilde
,
U Fanhoe
,
C Esteves
,
J Arribas
,
MA Vilaseca
,
B Pérez-Dueñas
,
M Pineda
,
V González
,
R Artuch
,
A Baldellou
,
L Vilarinho
,
B Fowler
,
A Rib
Journal:
Clinical Genetics
Year:
2010
Language:
english
File:
PDF, 761 KB
Your tags:
english, 2010
2
Identification and molecular characterization of two novel chromosomal deletions associated with autism
W-H Chien
,
SS-F Gau
,
Y-Y Wu
,
Y-S Huang
,
J-S Fang
,
Y-J Chen
,
W-T Soong
,
Y-N Chiu
,
C-H Chen
Journal:
Clinical Genetics
Year:
2010
Language:
english
File:
PDF, 815 KB
Your tags:
english, 2010
3
Mapping of three novel loci for non-syndromic autosomal recessive mental retardation (NS-ARMR) in consanguineous families from Pakistan
MA Rafiq
,
M Ansar
,
CR Marshall
,
A Noor
,
N Shaheen
,
A Mowjoodi
,
MA Khan
,
G Ali
,
M Amin-ud-Din
,
L Feuk
,
JB Vincent
,
SW Scherer
Journal:
Clinical Genetics
Year:
2010
Language:
english
File:
PDF, 639 KB
Your tags:
english, 2010
4
The role of germline AIP, MEN1, PRKAR1A, CDKN1B and CDKN2C mutations in causing pituitary adenomas in a large cohort of children, adolescents, and patients with genetic syndromes
CA Stratakis
,
MA Tichomirowa
,
S Boikos
,
MF Azevedo
,
M Lodish
,
M Martari
,
S Verma
,
AF Daly
,
M Raygada
,
MF Keil
,
J Papademetriou
,
L Drori-Herishanu
,
A Horvath
,
KM Tsang
,
M Nesterova
,
S Franklin
,
J-F Van
Journal:
Clinical Genetics
Year:
2010
Language:
english
File:
PDF, 660 KB
Your tags:
english, 2010
5
A large cohort study of GJB2 mutations in Japanese hearing loss patients
K Tsukada
,
S Nishio
,
S Usami
,
the Deafness Gene Study Consortium
Journal:
Clinical Genetics
Year:
2010
Language:
english
File:
PDF, 1017 KB
Your tags:
english, 2010
6
Refining the phenotype associated with MEF2C haploinsufficiency
F Novara
,
S Beri
,
R Giorda
,
E Ortibus
,
S Nageshappa
,
F Darra
,
B Dalla Bernardina
,
O Zuffardi
,
H Van Esch
Journal:
Clinical Genetics
Year:
2010
Language:
english
File:
PDF, 687 KB
Your tags:
english, 2010
7
Novel splice-site mutations and a large intragenic deletion in PLA2G6 associated with a severe and rapidly progressive form of infantile neuroaxonal dystrophy
A Tonelli
,
R Romaniello
,
R Grasso
,
A Cavallini
,
A Righini
,
N Bresolin
,
R Borgatti
,
MT Bassi
Journal:
Clinical Genetics
Year:
2010
Language:
english
File:
PDF, 708 KB
Your tags:
english, 2010
8
Hereditary hemorrhagic telangiectasia: two distinct ENG deletions in one family
W Wooderchak
,
F Gedge
,
M McDonald
,
P Krautscheid
,
X Wang
,
J Malkiewicz
,
CJ Bukjiok
,
T Lewis
,
P Bayrak-Toydemir
Journal:
Clinical Genetics
Year:
2010
Language:
english
File:
PDF, 687 KB
Your tags:
english, 2010
9
PALB2 mutations in European familial pancreatic cancer families
EP Slater
,
P Langer
,
E Niemczyk
,
K Strauch
,
J Butler
,
N Habbe
,
JP Neoptolemos
,
W Greenhalf
,
DK Bartsch
Journal:
Clinical Genetics
Year:
2010
Language:
english
File:
PDF, 671 KB
Your tags:
english, 2010
10
Thromboembolism and coumarin overdosage in a 19-year-old female: impact of pharmacogenetics
C Brenner
,
B Huber
,
A Becker
,
H Ostermann
,
C Becker
,
G Steinbeck
,
W-M Franz
Journal:
Clinical Genetics
Year:
2010
Language:
english
File:
PDF, 544 KB
Your tags:
english, 2010
11
A founder mutation in BBS2 is responsible for Bardet-Biedl syndrome in the Hutterite population: utility of SNP arrays in genetically heterogeneous disorders
AM Innes
,
KM Boycott
,
EG Puffenberger
,
D Redl
,
IM MacDonald
,
AE Chudley
,
C Beaulieu
,
R Perrier
,
T Gillan
,
A Wade
,
JS Parboosingh
Journal:
Clinical Genetics
Year:
2010
Language:
english
File:
PDF, 802 KB
Your tags:
english, 2010
12
Identification of a novel mutation in the human PDE6A gene in autosomal recessive retinitis pigmentosa: homology with the nmf28/nmf28 mice model
M Corton
,
MJ Blanco
,
M Torres
,
M Sanchez-Salorio
,
A Carracedo
,
M Brion
Journal:
Clinical Genetics
Year:
2010
Language:
english
File:
PDF, 726 KB
Your tags:
english, 2010
13
Variable number of tandem repeat polymorphisms (VNTRs) in the ACAN gene associated with pectus excavatum
MW Stacey
,
SA Neumann
,
A Dooley
,
K Segna
,
RE Kelly
,
D Nuss
,
AM Kuhn
,
MJ Goretsky
,
AH Fecteau
,
A Pastor
,
VK Proud
Journal:
Clinical Genetics
Year:
2010
Language:
english
File:
PDF, 546 KB
Your tags:
english, 2010
14
Patient satisfaction and cancer-related distress among unselected Jewish women undergoing genetic testing for BRCA1 and BRCA2
KA Metcalfe
,
A Poll
,
M Llacuachaqui
,
S Nanda
,
A Tulman
,
N Mian
,
P Sun
,
SA Narod
Journal:
Clinical Genetics
Year:
2010
Language:
english
File:
PDF, 550 KB
Your tags:
english, 2010
15
DNA repair deficiency in a newly identified neurological disease
K Huang
Journal:
Clinical Genetics
Year:
2010
Language:
english
File:
PDF, 542 KB
Your tags:
english, 2010
16
Yet another gene mutation: dysfunction in mitochondrial protein quality control causing hereditary ataxia
K Huang
Journal:
Clinical Genetics
Year:
2010
Language:
english
File:
PDF, 539 KB
Your tags:
english, 2010
17
Nature vs nurture: genetic susceptibility and weight loss in hepatic steatosis
K Huang
Journal:
Clinical Genetics
Year:
2010
Language:
english
File:
PDF, 704 KB
Your tags:
english, 2010
18
Erratum
Journal:
Clinical Genetics
Year:
2010
File:
PDF, 468 KB
Your tags:
2010
19
Leena Peltonen-Palotie (1952–2010) A renaissance woman of science
Päivi Pajukanta
Journal:
Clinical Genetics
Year:
2010
Language:
english
File:
PDF, 554 KB
Your tags:
english, 2010
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