All individuals with variants in gene FSHR

26 entries on 1 page. Showing entries 1 - 26.
Legend   How to query  

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
Panel size     
Owner     
00292791 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00431305 patient PubMed: Chen 2023 2-generation family, 1 affected, unaffected heterozygous carrier parents F no China - - - - - INFF see paper; ..., primary ovarian insufficiency, resistant ovary syndrome; 15y-menarche, irregular menstrual cycles (15-180d) 2 1 Johan den Dunnen
00431306 patient PubMed: Touraine 1999 2-generation family, 1 affected, unaffected heterozygous carrier parents F no France - - - - - POF see paper; ..., primary amenorrhea, 13y-puberty, normal development secondary sex characteristics 2 1 Johan den Dunnen
00431307 patient PubMed: Kuechler 2010 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Germany - - - - - ? see paper; ..., primary amenorrhea, hypergonadotropic hypogonadism, disturbed folliculogenesis 2 1 Johan den Dunnen
00431308 patient PubMed: Achrekar 2010 - F - India - - - - - ? see paper; ..., primary amenorrhea; ultrasonography hypoplastic uterus, thin endometrium 1 1 Johan den Dunnen
00431309 patient PubMed: Beau 1998 - F no Armenia - - - - - ? see paper; ..., secondary amenorrhea, very high plasma gonadotropin concentrations (especially FSH); ultrasonography normal sized ovaries, antral follicles up to 5 mm; normal follicular development, small antral stage, disruption at further stages 2 1 Johan den Dunnen
00431310 patient PubMed: Meduri 2003 adopted F - Germany white - - - - INFF see paper; ..., infertility, delayed puberty, primary amenorrhea 1 1 Johan den Dunnen
00431311 patient PubMed: Doherty 2002 - F no Australia Finland - - - - POF see paper; ..., primary amenorrhea, normal female secondary sexual characteristics, heigh 163 cm, weight 51 kg; high serum gonadotropin concentrations 2 1 Johan den Dunnen
00431312 patient PubMed: Allen 2003 - F no United Kingdom (Great Britain) - - - - - ? see paper; ..., hypergonadotrophic hypogonadism, delayed puberty, primary amenorrhoea; 13y-pubic hair development, 14y-breast development 2 1 Johan den Dunnen
00431313 patient PubMed: Nakamura 2008 - F - Japan - - - - - INFF see paper; ..., primary amenorrhea, moderately developed secondary sex characteristics, normal sized ovaries, small antral follicles 3 1 Johan den Dunnen
00431314 Fam1Pat17 PubMed: Aittomaki 1995 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents/relatives - yes Finland - - - - - ODG1 - 1 2 Johan den Dunnen
00431315 Fam1Pat18 PubMed: Aittomaki 1995 sister - yes Finland - - - - - ODG1 - 1 1 Johan den Dunnen
00431316 Fam2Pat29 PubMed: Aittomaki 1995 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents/relatives - yes Finland - - - - - ODG1 - 1 2 Johan den Dunnen
00431317 Fam2Pat210 PubMed: Aittomaki 1995 sister - yes Finland - - - - - ODG1 - 1 1 Johan den Dunnen
00431318 Fam4PatII1 PubMed: Aittomaki 1995 2-generation family, 3 affected sisters, unaffected heterozygous carrier parents/relatives - - Finland - - - - - ODG1 - 1 3 Johan den Dunnen
00431319 Fam4PatII2 PubMed: Aittomaki 1995 sister - - Finland - - - - - ODG1 - 1 1 Johan den Dunnen
00431320 Fam4PatII6 PubMed: Aittomaki 1995 sister - - Finland - - - - - ODG1 - 1 1 Johan den Dunnen
00431321 Fam5PatII2 PubMed: Aittomaki 1995 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents/relatives - - Finland - - - - - ODG1 - 1 2 Johan den Dunnen
00431322 Fam5PatII3 PubMed: Aittomaki 1995 sister - - Finland - - - - - ODG1 - 1 1 Johan den Dunnen
00431323 Fam6Pat65 PubMed: Aittomaki 1995 2-generation family, 4 affected sisters, unaffected heterozygous carrier parents/relatives - - Finland - - - - - ODG1 - 1 4 Johan den Dunnen
00431324 Fam6Pat67 PubMed: Aittomaki 1995 sister - - Finland - - - - - ODG1 - 1 1 Johan den Dunnen
00431325 Fam6Pat68 PubMed: Aittomaki 1995 sister - - Finland - - - - - ODG1 - 1 1 Johan den Dunnen
00431326 Fam6Pat610 PubMed: Aittomaki 1995 sister - - Finland - - - - - ODG1 - 1 1 Johan den Dunnen
00431327 Fam7PatII2 PubMed: Aittomaki 1995 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents/relatives - - Finland - - - - - ODG1 - 1 2 Johan den Dunnen
00431328 Fam7PatII3 PubMed: Aittomaki 1995 sister - - Finland - - - - - ODG1 - 1 1 Johan den Dunnen
00431329 family PubMed: Aittomaki 1995 - F - Finland - - - - - ODG1 - 1 1 Johan den Dunnen
Legend   How to query  

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.