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Year | Number of Results |
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2005 | 1 |
2019 | 1 |
2024 | 1 |
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New insights into 5alpha-reductase type 2 deficiency based on a multi-centre study: regional distribution and genotype-phenotype profiling of SRD5A2 in 190 Chinese patients.
J Med Genet. 2019 Oct;56(10):685-692. doi: 10.1136/jmedgenet-2018-105915. Epub 2019 Jun 11.
J Med Genet. 2019.
PMID: 31186340
BACKGROUND: The 5alpha-reductase type 2 (5alpha-RD2) deficiency caused by mutations in the steroid 5alpha-reductase 2 (SRD5A2) gene results in variable degrees of undervirilisation in patients with 46,XY disorders of sex development. ...However, …
BACKGROUND: The 5alpha-reductase type 2 (5alpha-RD2) deficiency caused by mutations in the steroid 5alpha-reductase 2 (SRD5A2) …
Primary amenorrhoea - cytogenetic study in 40 Indian women.
Banerjee B, Dutta A, Roy S, Halder A.
Banerjee B, et al.
J Obstet Gynaecol. 2024 Dec;44(1):2348085. doi: 10.1080/01443615.2024.2348085. Epub 2024 May 6.
J Obstet Gynaecol. 2024.
PMID: 38708796
Free article.
RESULT: Out of 40 patients, 29 were normal among which 46,XX was found in 70% cases (n = 28) and 46,XX,9qh + in 2.5% (n = 1). The remaining 11 showed different types of abnormalities. 45,X was found in 10% (n = 4), 46,X,i(X)(q10) in 2.5% (n = 1), 46,X,del(X)(p11. …
RESULT: Out of 40 patients, 29 were normal among which 46,XX was found in 70% cases (n = 28) and 46,XX,9qh + in 2.5% (n = 1). The rem …
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Idiopathic male pseudohermaphroditism: variations in presentation and management.
Meau-Petit V, Marcou V, Trivin C, Lortat-Jacob S, McElreavey K, Brauner R.
Meau-Petit V, et al.
J Pediatr Endocrinol Metab. 2005 Jun;18(6):569-75. doi: 10.1515/jpem.2005.18.6.569.
J Pediatr Endocrinol Metab. 2005.
PMID: 16042324
Male pseudohermaphroditism (MPH) is the abnormal development of genitalia in an individual with a 46,XY chromosome complement and testicular tissue. The etiology of MPH is unknown in most cases, which are defined as idiopathic. ...The initial manifestations were sex …
Male pseudohermaphroditism (MPH) is the abnormal development of genitalia in an individual with a 46,XY chromosome complement …
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