Mutations in the Desert hedgehog (DHH) gene in patients with 46,XY complete pure gonadal dysgenesis (vol 89, pg 4480, 2004)

被引：0
|
作者：
Canto, P
Söderlund, D
Reyes, E
Méndez, JP
机构：
来源：
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM | 2004年 / 89卷 / 11期
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
收藏
页码：5453 / 5453
页数：1
相关论文
共 50 条
  • [41] A de novo phe67leu mutation in the SRY gene in a patient with complete 46,XY gonadal dysgenesis
    Zenteno, JC
    Carranza-Lira, S
    Jiménez, AL
    Kofman, S
    JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION, 2003, 26 (11) : 1117 - 1119
  • [42] A Novel SRY Gene Mutation p.F109L in a 46,XY Female with Complete Gonadal Dysgenesis
    Andonova, Silvia
    Robeva, Ralitsa
    Sirakov, Milko
    Mainhard, Karela
    Tomova, Analia
    Ledig, Susanne
    Kumanov, Philip
    Savov, Alexey
    SEXUAL DEVELOPMENT, 2015, 9 (06) : 333 - 337
  • [43] 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
  • [44] A novel SRY gene mutation c.266 A>T (p.E89V) in a 46,XY complete gonadal dysgenesis patient
    Raveendran, Suresh Kumar
    Ramachandran, Lola
    Joseph, Lincy
    Asokan, Aneesh Kumar
    Raj, Soumya
    George, Alex
    James, Jimcy
    ANDROLOGIA, 2019, 51 (09)
  • [45] The Role of SRY Mutations in the Etiology of Gonadal Dysgenesis in Patients with 45,X/46,XY Disorder of Sex Development and Variants
    Nishi, Mirian Yumie
    Frade Costa, Elaine Maria
    Oliveira, Suely Beirao
    Mendonca, Berenice Bilharinho
    Domenice, Sorahia
    HORMONE RESEARCH IN PAEDIATRICS, 2011, 75 (01): : 26 - 31
  • [46] No evidence of mutations in the follicle-stimulating hormone receptor gene in Mexican women with 46,XX pure gonadal dysgenesis
    de la Chesnaye, E
    Canto, P
    Ulloa-Aguirre, A
    Méndez, JP
    AMERICAN JOURNAL OF MEDICAL GENETICS, 2001, 98 (02): : 125 - 128
  • [47] Case Report: Long-term follow-up of desert hedgehog variant caused 46, XY gonadal dysgenesis with multiple complications in a Chinese child
    Pan, Lili
    Li, Zhuoguang
    Su, Zhe
    Su, Wei
    Zheng, Rongfei
    Chen, Weiyan
    He, Xuezhi
    Song, Jianming
    Li, Shoulin
    Wen, Pengqiang
    FRONTIERS IN GENETICS, 2022, 13
  • [48] Familial Swyer Syndrome; Complete Pure Gonadal Dysgenesis in Two Sisters, Manifested as Two Different Clinics and Associated with 46 XY-Karyotype
    Karadeniz, Ozan
    Celik, Engin
    Abuamer, Merve Korkmaz
    Gunduz, Nermin
    JOURNAL OF CLINICAL OBSTETRICS AND GYNECOLOGY, 2022, 32 (04): : 151 - 156
  • [49] Two new point mutations of the SRY gene identified in two Italilan 46XY females with gonadala dysgenesis (vol 64, pg 258, 2003)
    Nicoletti, A
    CLINICAL GENETICS, 2003, 64 (06) : 526 - 526
  • [50] Absence of inactivating mutations and deletions in the DMRT1 and FGF9 genes in a large cohort of 46,XY patients with gonadal dysgenesis
    Machado, Aline Zamboni
    da Silva, Thatiana Evilen
    Frade Costa, Elaine Maria
    dos Santos, Mariza Gerdulo
    Nishi, Mirian Yumie
    Brito, Vinicius Nahime
    Mendonca, Berenice Bilharinho
    Domenice, Sorahia
    EUROPEAN JOURNAL OF MEDICAL GENETICS, 2012, 55 (12) : 690 - 694
12345