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BMJ Journals
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Journal of Medical Genetics
CLINICAL
Ophthalmology
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Ophthalmology
A novel mutation in the Connexin 46 gene causes autosomal dominant congenital cataract with incomplete penetrance
K P
Burdon
,
M G
Wirth
,
D A
Mackey
,
I M
Russell-Eggitt
,
J E
Craig
,
J E
Elder
,
J L
Dickinson
,
M M
Sale
Journal of Medical Genetics
Aug 2004,
41
(8)
e106;
DOI:
10.1136/jmg.2004.018333
Clinical features of type 2 Stickler syndrome
A V
Poulson
,
J M M
Hooymans
,
A J
Richards
,
P
Bearcroft
,
R
Murthy
,
D M
Baguley
,
J D
Scott
,
M P
Snead
Journal of Medical Genetics
Aug 2004,
41
(8)
e107;
DOI:
10.1136/jmg.2004.018382
Recurrent 17 bp duplication in
PITX3
is primarily associated with posterior polar cataract (CPP4)
V
Berry
,
Z
Yang
,
P K F
Addison
,
P J
Francis
,
A
Ionides
,
G
Karan
,
L
Jiang
,
W
Lin
,
J
Hu
,
R
Yang
,
A
Moore
,
K
Zhang
,
S S
Bhattacharya
Journal of Medical Genetics
Aug 2004,
41
(8)
e109;
DOI:
10.1136/jmg.2004.020289
SEMA3E
mutation in a patient with CHARGE syndrome
S R
Lalani
,
A M
Safiullah
,
L M
Molinari
,
S D
Fernbach
,
D M
Martin
,
J W
Belmont
Journal of Medical Genetics
Jul 2004,
41
(7)
e94;
DOI:
10.1136/jmg.2003.017640
Mucopolysaccharidosis IVA: identification of mutations and methylation study in GALNS gene
S
Tomatsu
,
T
Nishioka
,
A M
Montaño
,
M A
Gutierrez
,
O S
Pena
,
K O
Orii
,
W S
Sly
,
S
Yamaguchi
,
T
Orii
,
E
Paschke
,
S G
Kircher
,
A
Noguchi
Journal of Medical Genetics
Jul 2004,
41
(7)
e98;
DOI:
10.1136/jmg.2003.018010
P
gene mutations in patients with oculocutaneous albinism and findings suggestive of Hermansky-Pudlak syndrome
N A
Garrison
,
Z
Yi
,
O
Cohen-Barak
,
M
Huizing
,
L M
Hartnell
,
W A
Gahl
,
M H
Brilliant
Journal of Medical Genetics
Jun 2004,
41
(6)
e86;
DOI:
10.1136/jmg.2003.014902
High resolution profiling of X chromosomal aberrations by array comparative genomic hybridisation
J A
Veltman
,
H G
Yntema
,
D
Lugtenberg
,
H
Arts
,
S
Briault
,
E H L P G
Huys
,
K
Osoegawa
,
P
de Jong
,
H G
Brunner
,
A
Geurts van Kessel
,
H
van Bokhoven
,
E F P M
Schoenmakers
Journal of Medical Genetics
Jun 2004,
41
(6)
425-432;
DOI:
10.1136/jmg.2004.018531
An autosomal recessive cone–rod dystrophy associated with amelogenesis imperfecta
M
Michaelides
,
A
Bloch-Zupan
,
G E
Holder
,
D M
Hunt
,
A T
Moore
Journal of Medical Genetics
Jun 2004,
41
(6)
468-473;
DOI:
10.1136/jmg.2003.015792
A mitochondrial DNA duplication as a marker of skeletal muscle specific mutations in the mitochondrial genome
M
Mancuso
,
C
Vives-Bauza
,
M
Filosto
,
R
Marti
,
A
Solano
,
J
Montoya
,
J
Gamez
,
S
DiMauro
,
A L
Andreu
Journal of Medical Genetics
Jun 2004,
41
(6)
e73;
DOI:
10.1136/jmg.2003.012278
Case report: a subject with a mutation in the ATG start codon of L-ferritin has no haematological or neurological symptoms
L
Cremonesi
,
A
Cozzi
,
D
Girelli
,
F
Ferrari
,
I
Fermo
,
B
Foglieni
,
S
Levi
,
C
Bozzini
,
M
Camparini
,
M
Ferrari
,
P
Arosio
Journal of Medical Genetics
Jun 2004,
41
(6)
e81;
DOI:
10.1136/jmg.2003.011718
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