A novel missense mutation (S18N) in the 5′ non-HMG box region of the SRY gene in a patient with partial gonadal dysgenesis and his normal male relatives

1998 ◽  
Vol 102 (2) ◽  
pp. 213-215 ◽  
Author(s):  
Sorahia Domenice ◽  
Miriam Yumie Nishi ◽  
Ana Elisa Correia Billerbeck ◽  
Ana Claudia Latronico ◽  
Maria Aparecida Medeiros ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Gonadal Dysgenesis ◽  
Normal Male ◽  
Sry Gene ◽  
Hmg Box ◽  
Partial 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 A novel missense mutation in the HMG box region of the SRY gene in a Japanese patient with an XY sex reversal

2000 ◽  
Vol 45 (2) ◽  
pp. 112-114 ◽  
Author(s):  
Koji Okuhara ◽  
Toshihiro Tajima ◽  
Jun Nakae ◽  
Kenji Fujieda
Keyword(s):  
Missense Mutation ◽  
Japanese Patient ◽  
Sex Reversal ◽  
Sry Gene ◽  
Hmg Box ◽  
Xy Sex Reversal

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

A missense mutation (c.226C>A) in HMG box SRY gene affects nNLS function in 46,XY sex reversal female

Andrologia ◽  
2021 ◽  
Author(s):  
Prafulla S. Ambulkar ◽  
Jwalant E. Waghmare ◽  
Poonam Verma Shivkumar ◽  
Pratibha Narang ◽  
Asoke K. Pal
Keyword(s):  
Missense Mutation ◽  
Sex Reversal ◽  
Sry Gene ◽  
Hmg Box ◽  
Xy Sex Reversal

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

Primary amenorrhea in a 46,XY adolescent girl with partial gonadal dysgenesis: identification of a new SRY gene mutation

2007 ◽  
Vol 88 (5) ◽  
pp. 1437.e21-1437.e25 ◽  
Author(s):  
Françoise Paris ◽  
Pascal Philibert ◽  
Serge Lumbroso ◽  
Pierre Baldet ◽  
Jean Pierre Charvet ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Adolescent Girl ◽  
Gonadal Dysgenesis ◽  
Primary Amenorrhea ◽  
Sry Gene ◽  
Partial Gonadal Dysgenesis

NR5A1 Loss-of-Function Mutations Lead to 46,XY Partial Gonadal Dysgenesis Phenotype: Report of Three Novel Mutations

2016 ◽  
Vol 10 (4) ◽  
pp. 191-199 ◽  
Author(s):  
Helena C. Fabbri ◽  
Juliana G. Ribeiro de Andrade ◽  
Andréa T. Maciel-Guerra ◽  
Gil Guerra-Júnior ◽  
Maricilda P. de Mello
Keyword(s):  
Gonadal Dysgenesis ◽  
Loss Of Function ◽  
Novel Mutations ◽  
Partial Gonadal Dysgenesis

scholarly journals Swyer Syndrome and 46,XY Partial Gonadal Dysgenesis Associated with 9p Deletions in the Absence of Monosomy-9p Syndrome

1998 ◽  
Vol 63 (3) ◽  
pp. 901-905 ◽  
Author(s):  
R.A. Veitia ◽  
M. Nunes ◽  
L. Quintana-Murci ◽  
R. Rappaport ◽  
E. Thibaud ◽  
...  
Keyword(s):  
Gonadal Dysgenesis ◽  
Partial Gonadal Dysgenesis ◽  
Swyer Syndrome

A Novel Heterozygous Missense Variant of theFGFR2Gene in Two 46,XY Sisters with Non-Syndromic Partial Gonadal Dysgenesis

2011 ◽  
pp. P2-168-P2-168
Author(s):  
Aline Zamboni Machado ◽  
Mariza Gerdulo Santos ◽  
Mirian Yumie Nishi ◽  
Maira Pontual Brandao ◽  
Elaine Maria Frade Costa ◽  
...  
Keyword(s):  
Gonadal Dysgenesis ◽  
Missense Variant ◽  
Partial Gonadal Dysgenesis
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