Results 71 to 80 of about 1,703 (122)

Increased Expression of ZFPM2 Bypasses SRY to Drive 46,XX Testicular Development: A New Mechanism of 46,XX DSD

medRxiv
Leah Ragno, Daphne Yang, Trisha Bhatti, J. Bradfield, D. Bowen, Katheryn L. Grand, H. Hakonarson, Thomas F. Kolon, J. Glessner, M. Simon, Nicolas Skuli, Maria G. Vogiatzi, Marie A. Guerraty, Matthew A. Deardorff, Louise C. Pyle   +14 more
semanticscholar   +1 more source

Estudio molecular del gen que codifica para el receptor de la hormona foliculo estimulante en pacientees con disgenesia gonadal pura 46,XX

, 2000
openaire   +1 more source

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MUTATION ANALYSIS OF WNT4 GENE IN SRY NEGATIVE 46,XX DSD PATIENTS WITH MULLERIAN AGENESIS AND/OR GONADAL DYSGENESIS- AN INDIAN STUDY.

Gene, 2023
Developmental disruption of the Mullerian duct and gonads in females leads to Mullerian agenesis and gonadal dysgenesis, respectively. These two structural abnormalities are coming under the 46,XX DSD (Disorders of Sexual Development) classification, the
T. S. Ragitha, K. S. Sunish, Sareena Gilvaz, Saley Daniel, P. Varghese, Soumya Raj, Jijo Francis, R. Suresh Kumar   +7 more
semanticscholar   +1 more source

Gonadal tumour development in 46,XX disorders of gonadal development.

European Journal of Endocrinology, 2022
BACKGROUND Differences/disorders of sex development (DSD) are congenital conditions in which development of chromosomal, gonadal, or anatomical sex is atypical.
M. Costanzo, M. Touzon, R. Marino, G. Guercio, P. Ramírez, María C Mattone, N. Pérez Garrido, M. Bailez, E. Vaiani, M. Ciaccio, María Laura Galluzzo Mutti, A. Belgorosky, E. Berensztein   +12 more
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Rare missense variant in MSH4 associated with primary gonadal failure in both 46, XX and 46, XY individuals.

Human Reproduction, 2021
STUDY QUESTION Can whole-exome sequencing (WES) reveal a shared pathogenic variant responsible for primary gonadal failure in both male and female patients from a consanguineous family?
A. Akbari, Kimiya Padidar, N. Salehi, Mehri Mashayekhi, Navid Almadani, M. S. Sadighi Gilani, Anu Bashambou, K. McElreavey, M. Totonchi   +8 more
semanticscholar   +1 more source

Cytogenetic and molecular characterization in gonadal tissue of patients with ovotesticular syndrome and gonadal dysgenesis 46,XY and 46,XX

Revista Mexicana de Urología, 2021
Objectives: Etiology of gonadal dysgenesis and ovotesticular syndrome is unknown in a majority of cases. To perform cytogenetic and molecular characterization of a group of patients with ovotesticular syndrome and complete gonadal dysgenesis from ...
M. Manotas, Mary García-Acero, Daniel González, Camila Bernal, Mariana Guerra, O. Moreno-Niño, F. Suárez, Camila Céspedes, Catalina Forero, J. Perez, Adriana Rojas   +10 more
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Misdiagnosis of associated mullerian agenesis in a female with 46, XX gonadal dysgenesis: a case report and review of literature

Journal of Obstetrics and Gynaecology Research, 2020
Gonadal dysgenesis in females is defined as the absence or limited development of the ovaries resulting in hypergonadotropic hypogonadism.
Lynn Opdecam, J. Barudy Vasquez, M. Camerlinck, A. Makar   +3 more
semanticscholar   +1 more source