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BMJ Journals
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Journal of Medical Genetics
CLINICAL
Neurology
Peripheral nerve disease
Email alerts
Peripheral nerve disease
Identification of a splice acceptor site mutation in
p16
INK4A
/p14
ARF
within a breast cancer, melanoma, neurofibroma prone kindred
A H
Prowse
,
D C
Schultz
,
S
Guo
,
L
Vanderveer
,
J
Dangel
,
B
Bove
,
P
Cairns
,
M
Daly
,
A K
Godwin
Journal of Medical Genetics
Aug 2003,
40
(8)
e102;
DOI:
10.1136/jmg.40.8.e102
Mitotic recombination mediated by the
JJAZF1
(
KIAA0160
) gene causing somatic mosaicism and a new type of constitutional NF1 microdeletion in two children of a mosaic female with only few manifestations
E
Petek
,
D E
Jenne
,
J
Smolle
,
B
Binder
,
W
Lasinger
,
C
Windpassinger
,
K
Wagner
,
P M
Kroisel
,
H
Kehrer-Sawatzki
Journal of Medical Genetics
Jul 2003,
40
(7)
520-525;
DOI:
10.1136/jmg.40.7.520
Phenotypic and genetic exploration of severe demyelinating and secondary axonal neuropathies resulting from
GDAP1
nonsense and splicing mutations
A
De Sandre-Giovannoli
,
M
Chaouch
,
I
Boccaccio
,
R
Bernard
,
V
Delague
,
D
Grid
,
J M
Vallat
,
N
Lévy
,
A
Mégarbané
Journal of Medical Genetics
Jul 2003,
40
(7)
e87;
DOI:
10.1136/jmg.40.7.e87
Somatic mosaicism in neurofibromatosis 2: prevalence and risk of disease transmission to offspring
A
Moyhuddin
,
M E
Baser
,
C
Watson
,
S
Purcell
,
R T
Ramsden
,
A
Heiberg
,
A J
Wallace
,
D G R
Evans
Journal of Medical Genetics
Jun 2003,
40
(6)
459-463;
DOI:
10.1136/jmg.40.6.459
Is the locus for Costello syndrome on 11p?
B
Kerr
,
M L
Mucchielli
,
S
Sigaudy
,
M
Fabre
,
P
Saunier
,
M A
Voelckel
,
E
Howard
,
R
Elles
,
T O B
Eden
,
G C
Black
,
N
Philip
Journal of Medical Genetics
Jun 2003,
40
(6)
469-471;
DOI:
10.1136/jmg.40.6.469
Recurrent mutations in the
NF1
gene are common among neurofibromatosis type 1 patients
E
Ars
,
H
Kruyer
,
M
Morell
,
E
Pros
,
E
Serra
,
A
Ravella
,
X
Estivill
,
C
Lázaro
Journal of Medical Genetics
Jun 2003,
40
(6)
e82;
DOI:
10.1136/jmg.40.6.e82
NF1
mutations and clinical spectrum in patients with spinal neurofibromas
L
Kluwe
,
M
Tatagiba
,
C
Fünsterer
,
V-F
Mautner
Journal of Medical Genetics
May 2003,
40
(5)
368-371;
DOI:
10.1136/jmg.40.5.368
Studies on the pathogenesis of Costello syndrome
G M S
Mancini
,
O P
van Diggelen
,
W J
Kleijer
,
M
Di Rocco
,
V
Farina
,
M
Yuksel-Apak
,
H
Kayserili
,
D J J
Halley
Journal of Medical Genetics
Apr 2003,
40
(4)
e37;
DOI:
10.1136/jmg.40.4.e37
A common variant in the
ABCA1
gene is associated with a lower risk for premature coronary heart disease in familial hypercholesterolaemia
A
Cenarro
,
M
Artieda
,
S
Castillo
,
P
Mozas
,
G
Reyes
,
D
Tejedor
,
R
Alonso
,
P
Mata
,
M
Pocoví
,
F
Civeira
Journal of Medical Genetics
Mar 2003,
40
(3)
163-168;
DOI:
10.1136/jmg.40.3.163
Identification of a mutation that perturbs
NF1
agene splicing using genomic DNA samples and a minigene assay
M
Baralle
,
D
Baralle
,
L
De Conti
,
C
Mattocks
,
J
Whittaker
,
A
Knezevich
,
C
ffrench-Constant
,
F E
Baralle
Journal of Medical Genetics
Mar 2003,
40
(3)
220-222;
DOI:
10.1136/jmg.40.3.220
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