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BMJ Journals
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Journal of Medical Genetics
CLINICAL
Diagnostics
Email alerts
Diagnostics
Spectrum of atrial septal defects associated with mutations of NKX2.5 and GATA4 transcription factors
A
Sarkozy
,
E
Conti
,
C
Neri
,
R
D’Agostino
,
M C
Digilio
,
G
Esposito
,
A
Toscano
,
B
Marino
,
A
Pizzuti
,
B
Dallapiccola
Journal of Medical Genetics
Feb 2005,
42
(2)
e16;
DOI:
10.1136/jmg.2004.026740
NPHP1 gene deletion is a rare cause of Joubert syndrome related disorders
M
Castori
,
E M
Valente
,
M A
Donati
,
S
Salvi
,
E
Fazzi
,
E
Procopio
,
T
Galluccio
,
F
Emma
,
B
Dallapiccola
,
E
Bertini
Journal of Medical Genetics
Feb 2005,
42
(2)
e9;
DOI:
10.1136/jmg.2004.027375
Biallelic
BRCA2
mutations are associated with multiple malignancies in childhood including familial Wilms tumour
S
Reid
,
A
Renwick
,
S
Seal
,
L
Baskcomb
,
R
Barfoot
,
H
Jayatilake
,
K
Pritchard-Jones
,
M R
Stratton
,
A
Ridolfi-Lüthy
,
N
Rahman
Journal of Medical Genetics
Feb 2005,
42
(2)
147-151;
DOI:
10.1136/jmg.2004.022673
SLC26A4/PDS
genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities
S P
Pryor
,
A C
Madeo
,
J C
Reynolds
,
N J
Sarlis
,
K S
Arnos
,
W E
Nance
,
Y
Yang
,
C K
Zalewski
,
C C
Brewer
,
J A
Butman
,
A J
Griffith
Journal of Medical Genetics
Feb 2005,
42
(2)
159-165;
DOI:
10.1136/jmg.2004.024208
Association of
PLUNC
gene polymorphisms with susceptibility to nasopharyngeal carcinoma in a Chinese population
Y
He
,
G
Zhou
,
Y
Zhai
,
X
Dong
,
L
Lv
,
F
He
,
K
Yao
Journal of Medical Genetics
Feb 2005,
42
(2)
172-176;
DOI:
10.1136/jmg.2004.022616
A new locus for autosomal recessive complicated hereditary spastic paraplegia (SPG26) maps to chromosome 12p11.1–12q14
P A
Wilkinson
,
M A
Simpson
,
L
Bastaki
,
H
Patel
,
J A
Reed
,
K
Kalidas
,
E
Samilchuk
,
R
Khan
,
T T
Warner
,
A H
Crosby
Journal of Medical Genetics
Jan 2005,
42
(1)
80-82;
DOI:
10.1136/jmg.2004.020172
Sensorineural hearing loss, striate palmoplantar hyperkeratosis, and knuckle pads in a patient with a novel connexin 26 (
GJB2
) mutation
N J
Leonard
,
A L
Krol
,
S
Bleoo
,
M J
Somerville
Journal of Medical Genetics
Jan 2005,
42
(1)
e2;
DOI:
10.1136/jmg.2003.017376
Array based CGH and FISH fail to confirm duplication of 8p22-p23.1 in association with Kabuki syndrome
J D
Hoffman
,
Y
Zhang
,
J
Greshock
,
K L
Ciprero
,
B S
Emanuel
,
E H
Zackai
,
B L
Weber
,
J E
Ming
Journal of Medical Genetics
Jan 2005,
42
(1)
49-53;
DOI:
10.1136/jmg.2004.024372
Tissue dependent co-segregation of the novel pathogenic G12276A mitochondrial tRNA
Leu(CUN)
mutation with the A185G D-loop polymorphism
G
Zsurka
,
R
Schröder
,
C
Kornblum
,
J
Rudolph
,
R J
Wiesner
,
C E
Elger
,
W S
Kunz
Journal of Medical Genetics
Dec 2004,
41
(12)
e124;
DOI:
10.1136/jmg.2004.022566
Genetics of the
FANCA
gene in familial pancreatic cancer
C D
Rogers
,
F J
Couch
,
K
Brune
,
S T
Martin
,
J
Philips
,
K M
Murphy
,
G
Petersen
,
C J
Yeo
,
R H
Hruban
,
M
Goggins
Journal of Medical Genetics
Dec 2004,
41
(12)
e126;
DOI:
10.1136/jmg.2004.024851
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