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32 research outputs found
MOLECULAR ANALYSIS OF CYP21 GENE MUTATIONS CARRIED ON HLA-B14 POSITIVE HAPLOTYPES
Author
Carroll M.C.
Cuccia M.
+11 more
Cuccia-Belvedere M.
Geserik G.
Larizza D.
Mauff G.
Mornet E.
New M.I.
Schneider P.M.
Speiser P.W.
Speiser P.W.
Speiser P.W.
Tusie-Luna M.T.
Publication venue
'Wiley'
Publication date
Field of study
No full text
Crossref
Hyperandrogenism in carriers of CYP21 mutations: the role of genotype
Author
Admoni O.
Miller S.A.
+7 more
New M.I.
Ostlere L.S.
Speiser P.W.
Speiser P.W.
Therrell B.L.
Witchel S.F.
Wu D.A.
Publication venue
'Wiley'
Publication date
Field of study
No full text
Crossref
Only two amino acid substitutions of I236N and V237E in exon 6 are converted to the CYP21 gene in a Chinese patient with congenital adrenal hyperplasia
Author
Higashi Y.
Lee H.H.
Martin M.
Speiser P.W.
Publication venue
'Wiley'
Publication date
Field of study
No full text
Crossref
Prenatal diagnosis of congenital adrenal hyperplasia by direct detection of mutations in the steroid 21-hydroxylase gene
Author
Forest M.G.
Higashi Y.
+3 more
Mornet E.
Rumsby G.
Speiser P.W.
Publication venue
'Wiley'
Publication date
Field of study
No full text
Crossref
CHARACTERIZATION OF MHC ANCESTRAL HAPLOTYPES ASSOCIATED WITH INSULIN-DEPENDENT DIABETES MELLITUS: EVIDENCE FOR INVOLVEMENT OF NON-HLA GENES
Author
Abe K.
Baisch J.M.
+5 more
Dawkins R.L.
Dawkins R.L.
Deschamps I.
Gony J.
Speiser P.W.
Publication venue
'Wiley'
Publication date
Field of study
No full text
Crossref
The Nonclassic Adrenal Hyperplasias
Author
A. Bobba
A.C. Moreira
+76 more
A.W. Lucky
B. J. Therrell
C. Deneux
C. Lutfallah
C. Moran
C. Morán
C.E. Kater
D Dewailly
D. Dewailly
D. Owerbach
D.A. Wu
E. Cacciari
E. Carmina
E. Carmina
E. Carmina
E. Katz
E. Mornet
E.S. Knochenhauer
F. Kuttenn
F. Saygili
G. Cathelineau
G.E. Richards
H. Sakkal-Alkaddour
J. Fiet
J. Mathieson
J. Solyom
J.W. Temeck
K. Joehrer
K.L. Sydnor
L. Ghizzoni
L.A. Hawkins
L.A. Sanchez
L.S. Levine
L.S. Levine
M. Krawczak
M. Zachmann
M. Zerah
M.F. Jayle
M.G. Forest
M.G. Forrest
M.I. New
M.I. New
M.R. Waterman
P. Feuillan
P. Schram
P. Spritzer
P.W. Speiser
P.W. Speiser
P.W. Speiser
P.W. Speiser
P.W. Speiser
P.W. Speiser
R. Azziz
R. Azziz
R. Azziz
R. Azziz
R. Azziz
R. Azziz
R. Azziz
R. Azziz
R. Azziz
R. Huerta
R. Huerta
S. Feldman
S. Jaresch
S. Pang
S. Pang
S.H. Chiou
S.H. Mellon
T.D. Pache
W.L. Miller
W.L. Miller
W.M. Hague
Y. Higashi
Y. Morel
Y.T. Chang
Publication venue
'Springer Science and Business Media LLC'
Publication date
01/01/2007
Field of study
No full text
Crossref
Congenital adrenal hyperplasia and P450 oxidoreductase deficiency
Author
Adachi M.
Auchus R.J.
+21 more
Azziz R.
Balsamo A.
Biglieri E.G.
Hannah E. Ivison
Jaaskelainen J.
Mornet E.
Nakagawa Y.
New M.I.
Nils Krone
Pang S.
Peterson R.E.
Pursley T.J.
Speiser P.W.
Speiser P.W.
Therrell B.L.
Tsai F.J.
Vivek Dhir
White P.C.
Wiebke Arlt
Yanase T.
Zachmann M.
Publication venue
'Wiley'
Publication date
Field of study
No full text
Crossref
Substitutions in the CYP21A2 promoter explain the simple-virilizing form of 21-hydroxylase deficiency in patients harbouring a P30L mutation
Author
Carroll M.C.
Higashi Y.
+8 more
Higashi Y.
Kagawa N.
Morel Y.
New M.I.
Speiser P.W.
Tusie-Luna M.T.
Wedell A.
White P.C.
Publication venue
'Wiley'
Publication date
Field of study
No full text
Crossref
Menstrual disturbance and hypersecretion of progesterone in women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Author
Adams J.M.
Blumberg D.L.
+11 more
Conway G.S.
Dewis P.
Eden J.A.
Hughes I.A.
Menard J.
Miller W.L.
Mulaikal R.M.
Peterson R.E.
Rosenfield R.L.
Speiser P.W.
Walker R.F.
Publication venue
'Wiley'
Publication date
Field of study
No full text
Crossref
CYP21 analysis and phenotype/genotype relationship in the screened population of the Italian Emilia-Romagna region
Author
Bachega T.A.
Baldazzi L.
+26 more
Balsamo A.
Barbujani G.
Cacciari E.
Carrera P.
Chiou S.H.
Ezquieda B.
Higashi Y.
Higashi Y.
Higashi Y.
Jaaskeilainen J.
Morel Y.
Mornet E.
Nordenstrom A.
Pang S.
Prader A.
Root A.W.
Speiser P.W.
Speiser P.W.
Tajima T.
Tajima T.
Tajima T.
Therrel B.L.
Tusie-Luna M.T.
Tusie-Luna M.T.
White P.C.
Wu D.A.
Publication venue
'Wiley'
Publication date
Field of study
No full text
Crossref
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