Results 21 to 30 of about 43,260 (208)

Dysgerminoma in three patients with Swyer syndrome

World Journal of Surgical Oncology, 2007
Background Dysgerminoma is the most common malignant germ cell tumor of the ovary. This malignancy can be associated with pure gonadal dysgenesis or Swyer syndrome, mixed gonadal dysgenesis and partial gonadal dysgenesis.
Karimi Zarchi Mojgan, Behtash Nadereh
doaj   +1 more source

FENOTIP PADA KELAINAN GONADAL DISGENESIS 46, XY

Jurnal Kedokteran Diponegoro, 2016
Latar belakang: Fenotip pada pasien Gonadal Dysgenesis 46, XY bervariasi dari wanita normal sampai ambigus genitalia hingga pria dengan undervirilisasi.
Prima Chaerunisa Ananda, Sultana MH Faradz, Mahayu Dewi Ariani   +2 more
doaj   +1 more source

Genomic analysis of P elements in natural populations of Drosophila melanogaster [PDF]

PeerJ, 2017
The Drosophila melanogaster P transposable element provides one of the best cases of horizontal transfer of a mobile DNA sequence in eukaryotes. Invasion of natural populations by the P element has led to a syndrome of phenotypes known as P-M hybrid ...
Casey M. Bergman, Shunhua Han, Michael G. Nelson, Vladyslav Bondarenko, Iryna Kozeretska   +4 more
doaj   +2 more sources

Rare successful pregnancy in a patient with Swyer Syndrome

Case Reports in Women's Health, 2016
Objective: To report a rare successful pregnancy after fertility treatment in a patient with Swyer syndrome. Design: Case report. Setting: Herts & Essex Fertility Centre, Cheshunt, UK. Patient(s): A 36-year-old patient with 46, XY gonadal dysgenesis.
Jyoti Taneja, David Ogutu, Michael Ah-Moye   +2 more
doaj   +1 more source

Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects

Nature Communications, 2023
Squamous cell carcinoma antigen recognized by T cells 3 (SART3) is an RNA-binding protein with numerous biological functions including recycling small nuclear RNAs to the spliceosome.
Katie L. Ayers, Stefanie Eggers, Ben N. Rollo, Katherine R. Smith, Nadia M. Davidson, Nicole A. Siddall, Liang Zhao, Josephine Bowles, Karin Weiss, Ginevra Zanni, Lydie Burglen, Shay Ben-Shachar, Jenny Rosensaft, Annick Raas-Rothschild, Anne Jørgensen, Ralf B. Schittenhelm, Cheng Huang, Gorjana Robevska, Jocelyn van den Bergen, Franca Casagranda, Justyna Cyza, Svenja Pachernegg, David K. Wright, Melanie Bahlo, Alicia Oshlack, Terrence J. O’Brien, Patrick Kwan, Peter Koopman, Gary R. Hime, Nadine Girard, Chen Hoffmann, Yuval Shilon, Amnon Zung, Enrico Bertini, Mathieu Milh, Bochra Ben Rhouma, Neila Belguith, Anu Bashamboo, Kenneth McElreavey, Ehud Banne, Naomi Weintrob, Bruria BenZeev, Andrew H. Sinclair   +42 more
doaj   +1 more source

Swyer syndrome: The gender swayer?

Alexandria Journal of Medicine, 2017
46XY complete gonadal dysgenesis (SWYER SYNDROME) is a rare type of Disorder of Sex Development. Herein we report a 15 years-old child, reared as female, presented with complaints of primary amenorrhoea, without short stature or Turner’s stigmata ...
Jaideep Khare, Prasun Deb, Prachi Srivastava, Babul H. Reddy   +3 more
doaj   +1 more source

Achondroplasia Associated with Gonadal Dysgenesis

Journal of International Medical Research, 2008
A 45-year-old woman with short stature and primary amenorrhoea was admitted during a health-screening programme. Physical examination revealed a shortness of proximal legs and arms, short stature and other clinical properties of achondroplasia. Secondary sexual characteristics assessment showed axillary hair stage 5, breast stage 4 and pubic hair stage
C, Gokce, M E, Atabek, E M, Atabek, L, Kaynar, E, Torun, S, Kurtoglu, F, Bayram   +6 more
openaire   +3 more sources

Paediatric development of radiopharmaceutical imaging agents and radioligand therapeutics

British Journal of Clinical Pharmacology, EarlyView.
Abstract This review focuses on the development of radiopharmaceutical imaging agents and radioligand therapeutics for paediatric use. Nuclear medicine plays an important role in the diagnosis and treatment of various childhood conditions, including cancers, infections and brain disorders.
Justin L. Hay, Amandine Manon, Hunter Stephens, S. Y. Amy Cheung, Bart de Keizer, Erik T. te Beek   +5 more
wiley   +1 more source

CRISPR/Cas9-mediated simultaneous knockout of Dmrt1 and Dmrt3 does not recapitulate the 46,XY gonadal dysgenesis observed in 9p24.3 deletion patients

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, Moe Tamano, Tomoko Kato, Shuji Takada   +3 more
doaj   +1 more source

Nucleoporin107 mediates female sexual differentiation via Dsx

eLife, 2022
We recently identified a missense mutation in Nucleoporin107 (Nup107; D447N) underlying XX-ovarian-dysgenesis, a rare disorder characterized by underdeveloped and dysfunctional ovaries.
Tikva Shore, Tgst Levi, Rachel Kalifa, Amatzia Dreifuss, Dina Rekler, Ariella Weinberg-Shukron, Yuval Nevo, Tzofia Bialistoky, Victoria Moyal, Merav Yaffa Gold, Shira Leebhoff, David Zangen, Girish Deshpande, Offer Gerlitz   +13 more
doaj   +1 more source