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May 1996 - Volume 33 - 5
Research Article
Book Review
Research Article
Localisation of two candidate genes for mental retardation using a YAC physical map of the Xq21.1-21.2 subbands.
(1 May, 1996)
L
Colleaux
,
M
May
,
J
Belougne
,
D
Lepaslier
,
C
Schwartz
,
M
Fontes
Mutation analysis in 24 French patients with glycogen storage disease type 1a.
(1 May, 1996)
F
Chevalier-Porst
,
D
Bozon
,
A M
Bonardot
,
N
Bruni
,
G
Mithieux
,
M
Mathieu
,
I
Maire
Direct detection of 4q35 rearrangements implicated in facioscapulohumeral muscular dystrophy (FSHD).
(1 May, 1996)
G
Deidda
,
S
Cacurri
,
N
Piazzo
,
L
Felicetti
Monosomy of distal 4q does not cause facioscapulohumeral muscular dystrophy.
(1 May, 1996)
R
Tupler
,
A
Berardinelli
,
L
Barbierato
,
R
Frants
,
J E
Hewitt
,
G
Lanzi
,
P
Maraschio
,
L
Tiepolo
Direct molecular diagnosis of CYP21 mutations in congenital adrenal hyperplasia.
(1 May, 1996)
H H
Lee
,
H T
Chao
,
H T
Ng
,
K B
Choo
FMR1 fully expanded mutation with minimal methylation in a high functioning fragile X male.
(1 May, 1996)
Z
Wang
,
A K
Taylor
,
J A
Bridge
First experiences with genetic counselling based on predictive DNA diagnosis in hereditary glomus tumours (paragangliomas).
(1 May, 1996)
J C
Oosterwijk
,
J C
Jansen
,
E M
van Schothorst
,
A W
Oosterhof
,
P
Devilee
,
E
Bakker
,
M W
Zoeteweij
,
A G
van der Mey
A novel deletion at codon 441 of the APC gene associated with ophthalmic lesions (CHRPE) in a South African family.
(1 May, 1996)
J J
Grobbelaar
,
A
Ziskind
,
G
de Jong
,
C J
Oosthuizen
,
M J
Kotze
Cytogenetic and epidemiological findings in Down syndrome, England and Wales 1989 to 1993. National Down Syndrome Cytogenetic Register and the Association of Clinical Cytogeneticists.
(1 May, 1996)
D
Mutton
,
E
Alberman
,
E B
Hook
Breakpoints in alpha, beta, and satellite III DNA sequences of chromosome 9 result in a variety of pericentric inversions.
(1 May, 1996)
K H
Ramesh
,
R S
Verma
Small extra ring chromosome derived from chromosome 10p: clinical report and characterisation by FISH.
(1 May, 1996)
E
Blennow
,
E
Tillberg
Marfan syndrome.
(1 May, 1996)
J R
Gray
,
S J
Davies
Renal-hepatic-pancreatic dysplasia: an autosomal recessive malformation.
(1 May, 1996)
R
Torra
,
L
Alós
,
J
Ramos
,
X
Estivill
Arginine-164-tryptophan substitution in connexin32 associated with X linked dominant Charcot-Marie-Tooth disease.
(1 May, 1996)
A
Oterino
,
F I
Montón
,
V M
Cabrera
,
F
Pinto
,
A
Gonzalez
,
N R
Lavilla
Orocardiodigital syndrome: an oral-facial-digital type II variant associated with atrioventricular canal.
(1 May, 1996)
M C
Digilio
,
B
Marino
,
A
Giannotti
,
B
Dallapiccola
Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS): a new syndrome.
(1 May, 1996)
P
Nicolaides
,
R E
Appleton
,
A
Fryer
A boy with developmental delay and a maternally inherited deletion in 15q11q13.
(1 May, 1996)
M
King
,
C
Hardy
,
B
Asenbauer
,
M
Kilpatrick
,
T
Webb
Mirror hands and feet: a further case of Laurin-Sandrow syndrome.
(1 May, 1996)
E
Hatchwell
,
N
Dennis
A new case of fibrochondrogenesis from Spain.
(1 May, 1996)
M L
Martínez-Frías
,
A
García
,
J
Cuevas
,
J I
Rodríguez
,
M
Urioste
Linkage analysis of two Canadian families segregating for X linked spondyloepiphyseal dysplasia.
(1 May, 1996)
L E
Bernard
,
D
Chitayat
,
R
Weksberg
,
M I
Van Allen
,
S
Langlois
Analysis of GLRA1 in hereditary and sporadic hyperekplexia: a novel mutation in a family cosegregating for hyperekplexia and spastic paraparesis.
(1 May, 1996)
F V
Elmslie
,
S M
Hutchings
,
V
Spencer
,
A
Curtis
,
T
Covanis
,
R M
Gardiner
,
M
Rees
Acute intermittent porphyria caused by defective splicing of porphobilinogen deaminase RNA: a synonymous codon mutation at -22 bp from the 5' splice site causes skipping of exon 3.
(1 May, 1996)
D H
Llewellyn
,
G A
Scobie
,
A J
Urquhart
,
S D
Whatley
,
A G
Roberts
,
P R
Harrison
,
G H
Elder
Different origins of mutations at the Machado-Joseph locus (MJD1)
(1 May, 1996)
P
Iughetti
,
M
Zatz
,
M R
Bueno
,
S K
Marie
Book Review
Gene Cloning and Manipulation
(1 May, 1996)
Simon
Ramsden
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