A novel mutation localized in the 3′ non-HMG box region of the SRY gene in 46, XY gonadal dysgenesis

1994 ◽  
Vol 3 (7) ◽  
pp. 1187-1189 ◽  
Author(s):  
Toshihiro Tajima ◽  
Jun Nakae ◽  
Nozomi Shinohara ◽  
Kenji Fujieda
Keyword(s):  
Gonadal Dysgenesis ◽  
Novel Mutation ◽  
Sry Gene ◽  
Hmg Box ◽  
Xy Gonadal Dysgenesis

scholarly journals A new de novo mutation (A113T) in HMG box of the SRY gene leads to XY gonadal dysgenesis.

1993 ◽  
Vol 30 (8) ◽  
pp. 655-657 ◽  
Author(s):  
Y T Zeng ◽  
Z R Ren ◽  
M L Zhang ◽  
Y Huang ◽  
F Y Zeng ◽  
...  
Keyword(s):  
Gonadal Dysgenesis ◽  
De Novo ◽  
De Novo Mutation ◽  
Sry Gene ◽  
Hmg Box ◽  
Xy Gonadal Dysgenesis

scholarly journals Novel mutation in the SRY gene results in 46,XY gonadal dysgenesis

1998 ◽  
Vol 11 (S1) ◽  
pp. S110-S111 ◽  
Author(s):  
Fergus J. Cameron ◽  
Matthijs J. Smith ◽  
Garry L. Warne ◽  
Andrew H. Sinclair
Keyword(s):  
Gonadal Dysgenesis ◽  
Novel Mutation ◽  
Sry Gene ◽  
Xy Gonadal Dysgenesis

A novel mutation (c. 341A>G) in the SRY gene in a 46,XY female patient with gonadal dysgenesis

Gene ◽  
2013 ◽  
Vol 526 (2) ◽  
pp. 467-470 ◽  
Author(s):  
Zofia Helszer ◽  
Anita Dmochowska ◽  
Janusz Szemraj ◽  
Jolanta Słowikowska-Hilczer ◽  
Marek Wieczorek ◽  
...  
Keyword(s):  
Female Patient ◽  
Gonadal Dysgenesis ◽  
Novel Mutation ◽  
Sry Gene ◽  
Xy Female

A de novo phe67leu mutation in the SRY gene in a patient with complete 46,XY gonadal dysgenesis

2003 ◽  
Vol 26 (11) ◽  
pp. 1117-1119 ◽  
Author(s):  
J. C. Zenteno ◽  
S. Carranza-Lira ◽  
A. L. Jiménez ◽  
S. Kofman
Keyword(s):  
Gonadal Dysgenesis ◽  
De Novo ◽  
Sry Gene ◽  
Xy Gonadal Dysgenesis

scholarly journals A novel mutation in the SRY gene causing 46 XY complete gonadal dysgenesis in a Chinese patient

2013 ◽  
Vol 2013 (Suppl 1) ◽  
pp. P189
Author(s):  
Elim Man ◽  
Yuet-Ling Tung ◽  
Ho-Ming Luk ◽  
Fai-Man Lo ◽  
Tak-Sum Lam ◽  
...  
Keyword(s):  
Gonadal Dysgenesis ◽  
Novel Mutation ◽  
Chinese Patient ◽  
Sry Gene ◽  
Complete Gonadal Dysgenesis

A Novel Frame Shift Mutation in the HMG Box of the SRY Gene in a Patient With Complete 46,XY Pure Gonadal Dysgenesis

2005 ◽  
Vol 14 (3) ◽  
pp. 159-163 ◽  
Author(s):  
Richard Kellermayer ◽  
L??szl?? Halvax ◽  
M??rta Czak?? ◽  
Mohammad Shahid ◽  
Varinderpal S Dhillon ◽  
...  
Keyword(s):  
Gonadal Dysgenesis ◽  
Sry Gene ◽  
Hmg Box ◽  
Frame Shift ◽  
Frame Shift Mutation

scholarly journals A NEW POINT MUTATION OF SRY GENE IN TWO SISTERS WITH 46 XY GONADAL DYSGENESIS

1993 ◽  
Vol 33 ◽  
pp. S13-S13
Author(s):  
T Tajima ◽  
N Shinohara ◽  
J Nakae ◽  
K Fujieda
Keyword(s):  
Point Mutation ◽  
Gonadal Dysgenesis ◽  
Sry Gene ◽  
Xy Gonadal Dysgenesis

XY gonadal dysgenesis and gonadoblastoma: a study in two sisters with a cryptic deletion of the Y chromosome involving the SRY gene

1995 ◽  
Vol 95 (1) ◽  
Author(s):  
AngelaS. Barbosa ◽  
Tha�sE. Ferraz-Costa ◽  
Mauro Semer ◽  
Bernardo Liberman ◽  
CarlosA. Moreira-Filho
Keyword(s):  
Y Chromosome ◽  
Gonadal Dysgenesis ◽  
Sry Gene ◽  
Xy Gonadal Dysgenesis
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