Unusual Case of Gonadal Dysgenesis (Turner's Syndrome) [PDF]
A. W. Spence, C. W. H. Havard
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CORRIGENDUM FOR “A Biallelic Mutation in the Homologous Recombination Repair Gene SPIDR Is Associated With Human Gonadal Dysgenesis” [PDF]
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FOLLICLE STIMULATING HORMONE RECEPTOR Ser680Asn POLYMORPHISM IN WOMEN WITH POLYCYSTIC OVARY [PDF]
Polymorphisms at codon 680 (Ser680Asn) of FSH receptor gene affected the basal FSH levels and sensitivity of FSH receptor to FSH exogenous in women undergoing assisted reproduction program in some ethnics in the world, while it could not proved in others.
Yuni, Ahda
core
Case Report: De novo DHX37 mutations in Saudi patients with 46,XY differences of sex development
Differences of sex development (DSD) are a group of congenital conditions involving atypical chromosomal, gonadal, or anatomical sex development. DHX37, a gene involved in ribosome biogenesis, located on chromosome 12, at the 12q24.31 region, has ...
Abeer Alabduljabbar +8 more
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CRYPTORCHIDISM AND 46 XY MALE GONADAL DYSGENESIS LAPAROSCOPIC DIAGNOSISABOUT A CASE
Freddy Niyongere +8 more
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Swyer syndrome (46, XY complete gonadal dysgenesis)
Pamela Maria P. Mallari +1 more
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Large interstitial del(13)(q13q14.3): the importance of detailed clinical information in cytogenetic studies [PDF]
Interstitial deletions of chromosome 13 are known to be associated with retinoblastoma. A wider syndrome may accompany the deletion, including mental retardation and craniofacial dysmorphism.
Correia, Hildeberto +6 more
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Clinical and Reproductive Characteristics of Patients with Mixed Gonadal Dysgenesis (45,X/46, XY)
Dibangkar Das +1 more
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Association of immunohistochemical markers with premalignancy in Gonadal Dysgenesis [PDF]
Bonnie McCann‐Crosby +4 more
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NR5A1-related 46,XY partial gonadal dysgenesis: A case report and literature review. [PDF]
Wei X, Li S, He Y.
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