Results 61 to 70 of about 14,838,419 (252)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Glucocorticoid resistance syndrome (GRS) is a rare hereditary disorder caused by pathogenic variants in NR3C1, characterized by marked phenotypic heterogeneity and frequent misdiagnosis as primary aldosteronism or subclinical Cushing's syndrome.
Sufang Yun +7 more
wiley +1 more source
THE RISK FOR DEVELOPING TUMOR IN PATIENTS WITH GONADAL DYSGENESIS 46,XY
Бюллетень сибирской медицины, 2015 Disorders of sex development with Y chromosome material has been associated with a high risk for developing germ cell tumors such as gonadoblastoma or dysgerminoma.
O. Yu. Latyshev +5 more
doaj +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Biallelic variants in NSMCE2 (MMS21), which encodes the SUMO E3 ligase subunit of the SMC5/6 chromatin‐maintenance complex, have recently been implicated in microcephalic primordial dwarfism (MPD), corresponding to Seckel syndrome type 10 (OMIM #617246).
Cristina Peduto +5 more
wiley +1 more source
Frontiers in EndocrinologyBackgroundSex steroid hormones, primarily synthesized by gonadal somatic cells, are pivotal for sexual development and reproduction. Mice studies have shown that two transcription factors, steroidogenic factor 1 (SF-1) and Wilms’ tumor 1 (WT1), are ...
Yumiko Miyazaki +5 more
doaj +1 more source
Biochemistry and Biophysics Reports, 2017 DM domain transcription factors play important roles in sexual development in a wide variety of species from invertebrate to humans. Among seven mammalian family members of DM domain transcription factors, DMRT1 has been studied in mouse and human for ...
Masafumi Inui +3 more
doaj +1 more source
A Novel Constitutional TUBB Variant Associated With Familial Malformations of Cortical Development
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Most pathogenic tubulin variants arise de novo in sporadic patients, causing severe brain malformations and significant neurodevelopmental impairment. The resulting reproductive disadvantage typically prevents these mutations from being transmitted to offspring.
Elena Cellini +9 more
wiley +1 more source
IDB Newsletter: Vol. 7, no. 4, October 1969
, 1969 IDB Newsletter is a monthly publication of the Inter-American Development that reports on the activities of the Inter-American Development Bank and appears in English and Spanish ...
Inter-American Development Bank
core +1 more source
Gonadal development in scorpion mud‐turtles, Kinosternon scorpioides, in a controlled environment
The Anatomical Record, EarlyView.Stage 20 was identified as the critical point for gonadal differentiation in Kinosternon scorpioides, providing key insights into sex determination. These findings enhance conservation strategies by supporting reproductive management and population viability in both in situ and ex situ programs. Abstract Research on gonadal development including sexual
Brenda Braga +4 more
wiley +1 more source
Phenotypic spectrum and long-term outcomes of patients with 46,XX disorders of sex development [PDF]
Annals of Pediatric Endocrinology & MetabolismPurpose 46,XX disorders of sex development (DSD) involve atypical genitalia accompanied by a normal female karyotype. This study was performed to investigate the clinical characteristics and long-term outcomes of patients with 46,XX DSD.
Heeyon Yoon +4 more
doaj +1 more source
The Anatomical Record, EarlyView.Abstract The equine ovary exhibits unique structural and developmental features that distinguish it from those of other domestic species, including the presence of an ovulation fossa and an inversion of cortical and medullary layers. This study aimed to investigate the morphostructural development of the equine fetal ovary, with particular emphasis on ...
Laura Ver Goltz +5 more
wiley +1 more source