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BMJ Journals
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Journal of Medical Genetics
CLINICAL
Diagnostics
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Clinical diagnostic tests
CLINICAL
/
Diagnostics
/
Clinical diagnostic tests
Xp;Yp translocation inherited from the father in an
SRY
,
RBM
, and
TSPY
positive true hermaphrodite with oligozoospermia
LUCJUSZ
JAKUBOWSKI
,
ANNA
JEZIOROWSKA
,
MARIA
CONSTANTINOU
,
ZOFIA
HELSZER
,
ANNETTE
BAUMSTARK
,
WALTHER
VOGEL
,
DIANA
MIKIEWICZ-SYGULA
,
BOGDAN
KAULZEWSKI
Journal of Medical Genetics
Oct 2000,
37
(10)
e28;
DOI:
10.1136/jmg.37.10.e28
Partial tetrasomy 21 in a male infant
ANNE M
SLAVOTINEK
,
XIAO-NING
CHEN
,
ANN
JACKSON
,
LORRAINE
GAUNT
,
ALASTAIR
CAMPBELL
,
JILL
CLAYTON-SMITH
,
JULIE R
KORENBERG
Journal of Medical Genetics
Oct 2000,
37
(10)
e30;
DOI:
10.1136/jmg.37.10.e30
Benign familial infantile convulsions: report of a UK family and confirmation of genetic heterogeneity
D
BARALLE
,
A M
DEARLOVE
,
R
BEACH
,
C
FFRENCH-CONSTANT
,
E
REID
Journal of Medical Genetics
Oct 2000,
37
(10)
e31;
DOI:
10.1136/jmg.37.10.e31
Sensitivity and specificity of clinical criteria for hereditary non-polyposis colorectal cancer associated mutations in
MSH2
and
MLH1
Sapna
Syngal
,
Edward A
Fox
,
Charis
Eng
,
Richard D
Kolodner
,
Judy E
Garber
Journal of Medical Genetics
Sep 2000,
37
(9)
641-645;
DOI:
10.1136/jmg.37.9.641
A novel mutation in the thiamine responsive megaloblastic anaemia gene
SLC19A2
in a patient with deficiency of respiratory chain complex I
Curt
Scharfe
,
Michael
Hauschild
,
Thomas
Klopstock
,
Antoon J M
Janssen
,
Peter H
Heidemann
,
Thomas
Meitinger
,
Michaela
Jaksch
Journal of Medical Genetics
Sep 2000,
37
(9)
669-673;
DOI:
10.1136/jmg.37.9.669
Cytosine methylation confers instability on the cardiac troponin T gene in hypertrophic cardiomyopathy
LEON G
D'CRUZ
,
CHRISTINA
BABOONIAN
,
HAZEL E
PHILLIMORE
,
ROHAN
TAYLOR
,
PERRY M
ELLIOTT
,
AMANDA
VARNAVA
,
FERGUS
DAVISON
,
WILLIAM J
MCKENNA
,
NICHOLAS D
CARTER
Journal of Medical Genetics
Sep 2000,
37
(9)
e18;
DOI:
10.1136/jmg.37.9.e18
Diagnosis of maternal uniparental disomy of chromosome 7 with a methylation specific PCR assay
KENJIRO
KOSAKI
,
RIKA
KOSAKI
,
WENDY P
ROBINSON
,
WILLIAM J
CRAIGEN
,
LISA G
SHAFFER
,
SEIJI
SATO
,
NOBUTAKE
MATSUO
Journal of Medical Genetics
Sep 2000,
37
(9)
e19;
DOI:
10.1136/jmg.37.9.e19
Deletion (2)(p14p15) in a child with severe neurodevelopmental delay
ISAM M
AMIR
,
KHALIL I
AL-TAWIL
,
MUNEEF M
AL-HATHAL
Journal of Medical Genetics
Sep 2000,
37
(9)
e21;
DOI:
10.1136/jmg.37.9.e21
Proximal 10q trisomy: a new case with anal atresia
F W F
LAM
,
W K
CHAN
,
S T S
LAM
,
W P
CHU
,
N S
KWONG
Journal of Medical Genetics
Sep 2000,
37
(9)
e24;
DOI:
10.1136/jmg.37.9.e24
Achondroplasia and nail-patella syndrome: the compound phenotype
M J
WRIGHT
,
M C
AIN
,
M V
CLOUGH
,
G A
BELLUS
,
O
HURKO
,
I
MCINTOSH
Journal of Medical Genetics
Sep 2000,
37
(9)
e25;
DOI:
10.1136/jmg.37.9.e25
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