SF1 gene mutation is a frequent cause of 46, XY complete gonadal dysgenesis: Identification of five new mutations among 22 XY sex reversed girls

被引：0

作者：

Philibert, Pascal ^{[1
]}

Audran, Francoise ^{[2
]}

Houang, Muriel ^{[3
,4
]}

Molini, Veruska

Frances, Anne-Marie ^{[5
]}

Tarral, Eliane ^{[6
]}

Lisa, Lidka ^{[7
]}

Damiani, Durvai ^{[8
]}

Paris, Francoise ^{[1
]}

Sultan, Charles ^{[1
]}

机构：

[1] CHU, Serv Hormonol & Endocrino Pediat, Montpellier, France

[2] CHU, Serv Hormonol, Montpellier, France

[3] CHU, Serv Explorat Fonct, Paris, France

[4] Univ Turin, Dept Pediat, I-10124 Turin, Italy

[5] CH, Serv Genet Med, La Seyne Sur Mer, France

[6] CH, Serv Pediat, Le Mans, France

[7] CH, Dept Pediat, Prague, Czech Republic

[8] Univ Sao Paulo, Serv Endocrino Pediat, Sao Paulo, Brazil

来源：

HORMONE RESEARCH | 2008年 / 70卷

关键词：

D O I：

暂无

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：39 / 39

页数：1

共 50 条

[1] Identification of a new SF1 gene mutation in a newborn baby with 46 XY sex reversal
Molini, Veruska
Philibert, Pascal
Lala, Roberto
Sultan, Charles
HORMONE RESEARCH, 2006, 65 : 111 - 111
[2] Novel pathogenic mutations in disorders of sex development associated genes cause 46,XY complete gonadal dysgenesis
Xue, Mei
Wang, Xiang
Li, Cui
Zhao, Minggang
He, Fang
Li, Xu
GENE, 2019, 718
[3] Identification of novel SRY mutations and SF1 (NR5A1) changes in patients with pure gonadal dysgenesis and 46,XY karyotype
Paliwal, Preeti
Sharma, Anshul
Birla, Shweta
Kriplani, Alka
Khadgawat, Rajesh
Sharma, Arundhati
MOLECULAR HUMAN REPRODUCTION, 2011, 17 (06) : 372 - 378
[4] Mutations in the Desert hedgehog (DHH) gene in patients with 46,XY complete pure gonadal dysgenesis
Canto, P
Söderlund, D
Reyes, E
Méndez, JP
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2004, 89 (09): : 4480 - 4483
[5] Novel mutation of MAP3K1 gene in 46,XY DSD with complete gonadal dysgenesis
Yu, Pei-Hsiu
Tsai, Meng-Che
Chiang, Chun -Ting
Wang, Han-Yu
Kuo, Pao-Lin
TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY, 2022, 61 (05): : 903 - 905
[6] Mutations in the DEAH-box RNA Helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome
McElreavey, Ken
Jorgensen, Anne
Eozenou, Caroline
Merel, Tiphanie
Bignon-Topalovic, Joelle
Tan, Daisy
Houzelstein, Denis
Buonocore, Federica
Warr, Nigel
Kay, Raissa
Peycelon, Mathieu
Siffroi, Jean-Pierre
Mazen, Inas
Achermann, John
Shcherbak, Yuliya
Leger, Julienne
Sallai, Agnes
Carel, Jean-Claude
Martinerie, Laetitia
Le Ru, Romain
Conway, Gerald
Mignot, Brigitte
Van Maldergem, Lionel
Bertalan, Rita
Globa, Evgenia
Brauner, Raja
Jauch, Ralf
Nef, Serge
Greenfield, Andy
Bashamboo, Anu
HORMONE RESEARCH IN PAEDIATRICS, 2019, 91 : 51 - 51
[7] A Novel Hemizygous Mutation of MAMLD1 in a Patient with 46, XY Complete Gonadal Dysgenesis
Ruiz-Arana, Inge-Lore
Huebner, Angela
Cetingdag, Cigdem
Krude, Heiko
Grueters, Annette
Fukami, Maki
Biebermann, Heike
Koehler, Birgit
SEXUAL DEVELOPMENT, 2015, 9 (02) : 80 - 85
[8] Primary amenorrhea in a 46,XY adolescent girl with partial gonadal dysgenesis: identification of a new SRY gene mutation
Paris, Francoise
Philibert, Pascal
Lumbroso, Serge
Baldet, Pierre
Charvet, Jean Pierre
Galifer, Rene-Benoit
Sultan, Charles
FERTILITY AND STERILITY, 2007, 88 (05) : 1437.e21 - 1437.e25
[9] Indentification of a de novo mutation in the SRY gene in a 46,XY complete gonadal dysgenesis patient with gonadal neoplasia and review of tumor risk in 46,XY DSD patients
He, Minfei
Chen, Hong
Zhu, Yilin
Fang, Yanlan
Zhu, Jianfang
Liang, Li
Wang, Chunling
HORMONE RESEARCH IN PAEDIATRICS, 2019, 91 : 598 - 599
[10] 46,XY complete gonadal dysgenesis in a familial case with a rare mutation in the desert hedgehog (DHH) gene
Vassos Neocleous
Pavlos Fanis
Feride Cinarli
Vasilis Kokotsis
Anastasios Oulas
Meropi Toumba
George M. Spyrou
Leonidas A. Phylactou
Nicos Skordis
Hormones, 2019, 18 : 315 - 320

← 1 2 3 4 5 →