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July 2006 - Volume 43 - 7
Electronic letters
Online mutation reports
Review
Commentary
Original articles
Short report
Letters to JMG
Electronic letters
No associations of human pulmonary tuberculosis with
Sp110
variants
(30 June, 2006)
T
Thye
,
E N
Browne
,
M A
Chinbuah
,
J
Gyapong
,
I
Osei
,
E
Owusu-Dabo
,
S
Niemann
,
S
Rüsch-Gerdes
,
R D
Horstmann
,
C G
Meyer
AUNX1
, a novel locus responsible for X linked recessive auditory and peripheral neuropathy, maps to Xq23–27.3
(30 June, 2006)
Q J
Wang
,
Q Z
Li
,
S Q
Rao
,
K
Lee
,
X S
Huang
,
W Y
Yang
,
S Q
Zhai
,
W W
Guo
,
Y F
Guo
,
N
Yu
,
Y L
Zhao
,
H
Yuan
,
J
Guan
,
S M
Leal
,
D Y
Han
,
Y
Shen
CHEK2
I157T associates with familial and sporadic colorectal cancer
(30 June, 2006)
O
Kilpivaara
,
P
Alhopuro
,
P
Vahteristo
,
L A
Aaltonen
,
H
Nevanlinna
A novel susceptibility locus for Hirschsprung’s disease maps to 4q31.3–q32.3
(30 June, 2006)
A S
Brooks
,
P A
Leegwater
,
G M
Burzynski
,
P J
Willems
,
B
de Graaf
,
I
van Langen
,
P
Heutink
,
B A
Oostra
,
R M W
Hofstra
,
A M
Bertoli-Avella
Total absence of the α2(I) chain of collagen type I causes a rare form of Ehlers-Danlos syndrome with hypermobility and propensity to cardiac valvular problems
(30 June, 2006)
F
Malfait
,
S
Symoens
,
P
Coucke
,
L
Nunes
,
S
De Almeida
,
A
De Paepe
Online mutation reports
A nonsense mutation in the first transmembrane domain of connexin 43 underlies autosomal recessive oculodentodigital syndrome
(30 June, 2006)
R J
Richardson
,
S
Joss
,
S
Tomkin
,
M
Ahmed
,
E
Sheridan
,
M J
Dixon
The 13042G→A/ND5 mutation in mtDNA is pathogenic and can be associated also with a prevalent ocular phenotype
(30 June, 2006)
M L
Valentino
,
P
Barboni
,
C
Rengo
,
A
Achilli
,
A
Torroni
,
R
Lodi
,
C
Tonon
,
B
Barbiroli
,
F
Fortuna
,
P
Montagna
,
A
Baruzzi
,
V
Carelli
Review
Oesophageal atresia, tracheo-oesophageal fistula, and the VACTERL association: review of genetics and epidemiology
(18 November, 2005)
Free
C
Shaw-Smith
Commentary
Advances in genetics: what are the benefits for patients?
(9 December, 2005)
A
Munnich
Original articles
The sepiapterin reductase gene region reveals association in the
PARK3
locus: analysis of familial and sporadic Parkinson’s disease in European populations
(27 January, 2006)
M
Sharma
,
J C
Mueller
,
A
Zimprich
,
P
Lichtner
,
A
Hofer
,
P
Leitner
,
S
Maass
,
D
Berg
,
A
Dürr
,
V
Bonifati
,
G
De Michele
,
B
Oostra
,
A
Brice
,
N W
Wood
,
B
Muller-Myhsok
,
T
Gasser
Genome wide significant linkage in schizophrenia conditioning on occurrence of depressive episodes
(14 October, 2005)
M L
Hamshere
,
N M
Williams
,
N
Norton
,
H
Williams
,
A G
Cardno
,
S
Zammit
,
L A
Jones
,
K C
Murphy
,
R D
Sanders
,
G
McCarthy
,
M Y
Gray
,
G
Jones
,
P
Holmans
,
M C
O’Donovan
,
M J
Owen
,
N
Craddock
Genotype-phenotype correlations of 39 patients with Cornelia De Lange syndrome: the Dutch experience
(19 October, 2005)
Z A
Bhuiyan
,
M
Klein
,
P
Hammond
,
A
van Haeringen
,
M M A M
Mannens
,
I
Van Berckelaer-Onnes
,
R C M
Hennekam
OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy allele
(21 December, 2005)
R
Varga
,
M R
Avenarius
,
P M
Kelley
,
B J
Keats
,
C I
Berlin
,
L J
Hood
,
T G
Morlet
,
S M
Brashears
,
A
Starr
,
E S
Cohn
,
R J H
Smith
,
W J
Kimberling
Variations in the complement regulatory genes factor H (CFH) and factor H related 5 (
CFHR5
) are associated with membranoproliferative glomerulonephritis type II (dense deposit disease)
(18 November, 2005)
M A
Abrera-Abeleda
,
C
Nishimura
,
J L H
Smith
,
S
Sethi
,
J L
McRae
,
B F
Murphy
,
G
Silvestri
,
C
Skerka
,
M
Józsi
,
P F
Zipfel
,
G S
Hageman
,
R J H
Smith
Subpopulation difference scanning: a strategy for exclusion mapping of susceptibility genes
(27 January, 2006)
E
Salmela
,
O
Taskinen
,
J K
Seppänen
,
P
Sistonen
,
M J
Daly
,
P
Lahermo
,
M-L
Savontaus
,
J
Kere
High throughput SNP and expression analyses of candidate genes for non-syndromic oral clefts
(13 January, 2006)
J W
Park
,
J
Cai
,
I
McIntosh
,
E W
Jabs
,
M D
Fallin
,
R
Ingersoll
,
J B
Hetmanski
,
M
Vekemans
,
T
Attie-Bitach
,
M
Lovett
,
A F
Scott
,
T H
Beaty
Short report
Phenotype of triploid embryos
(19 October, 2005)
D E
McFadden
,
W P
Robinson
Letters to JMG
Is the E133K allele of VG5Q associated with Klippel-Trenaunay and other overgrowth syndromes?
(27 January, 2006)
K T
Barker
,
W D
Foulkes
,
C E
Schwartz
,
C
Labadie
,
F
Monsell
,
R S
Houlston
,
J
Harper
Epigenetic mutations in 11p15 in Silver-Russell syndrome are restricted to the telomeric imprinting domain
(19 October, 2005)
T
Eggermann
,
N
Schönherr
,
E
Meyer
,
C
Obermann
,
M
Mavany
,
K
Eggermann
,
M B
Ranke
,
H A
Wollmann
An empirical comparison of case-control and trio based study designs in high throughput association mapping
(28 October, 2005)
P
Hintsanen
,
P
Sevon
,
P
Onkamo
,
L
Eronen
,
H
Toivonen
Issue Information
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