Results 111 to 120 of about 1,721 (201)

Familial <i>WT1</i>-associated nephropathy - 46, XY Frasier syndrome and 46, XX steroid-resistant nephrotic syndrome in female siblings: A case report and review of literature. [PDF]

World J Nephrol
Khandelwal MH, Piparva KG, Parchwani D.
europepmc   +1 more source

Isodicentric Y chromosome with SRY duplication in a female with complete gonadal dysgenesis. [PDF]

Mol Cytogenet
Salmaninejad A, Yaghoubi Z, Haghzad T, Latifi M, Bayat R, Esnaashari S, Dalili S.   +6 more
europepmc   +1 more source

Unveiling the Uncommon: A Case Series on Rare Germ Cell Tumors. [PDF]

Curr Health Sci J
Chakrabarti A, Kumari S, Maiti M, DAS C, Barui G.   +4 more
europepmc   +1 more source

A Case Report of Tissue Mosaicism in 45,X0/46,XY: Diagnostic Complexity in a Newborn with Ambiguous Genitalia. [PDF]

Reports (MDPI)
Krzyścin M, Brodowska A, Pietrzyk D, Zając K, Sowińska-Przepiera E.   +4 more
europepmc   +1 more source

Phenotypic Variation and Pubertal Outcomes in Males and Females With 46,XY Partial Gonadal Dysgenesis.

J Clin Endocrinol Metab
Tadokoro-Cuccaro R, Hughes IA, Cools M, van de Vijver K, Bilharinho de Mendonça B, Domenice S, Loch Batista R, Thomazini Dallago R, Costa EF, Lisboa Gomes N, Maciel-Guerra AT, Guerra-Junior G, Gabriel Ribeiro de Andrade J, Lucas-Herald A, Bryce J, Hannema S, Juul A, Globa E, McElreavey K, Baronio F, Rey R, Lopez Dacal J, Darendeliler F, Poyrazoglu S, Kolesińska Z, Niedziela M, Claahsen-van der Grinten HL, van den Akker ELT, Herrmann G, Atapattu N, Jain V, Sharma R, Bettendorf M, Konrad D, Lenherr-Taube N, Holterhus PM, Fica S, Skae M, Russo G, Stancampiano MR, Gazdagh G, Davies JH, Mohamed Z, Seneviratne SN, Güran T, Güven A, Wasniewska M, Mladenov V, Verkauskas G, Markosyan R, Korbonits M, Hiort O, Frielitz-Wagner IV, Ahmed SF, Thankamony A.   +54 more
europepmc   +1 more source

Germ cell tumors in children. [PDF]

Virchows Arch
Bode PK, Blasco-Santana L, Colmenero I, Reyes-Múgica M.   +3 more
europepmc   +1 more source

Discordant Gender Identity and Surgical Goals in Two Adults with Comparable Ambiguous Genitalia: Two Case Reports from a Resource-Limited Setting. [PDF]

Cureus
Ainomugisha B, Kajabwangu R, Byamukama O, Kato KP, Geissbuhler V, Kayondo M.   +5 more
europepmc   +1 more source

Clinical Presentation and Management of Swyer Syndrome: A Case Report. [PDF]

Cureus
Errahali Y, Malad M, Lakssir I, Issouani J, Guerboub AA.   +4 more
europepmc   +1 more source

Tumours in children and adolescents with Turner syndrome and Klinefelter syndrome: a retrospective Chinese cohort study. [PDF]

BMJ Paediatr Open
Wang G, Wang M, Wang J, Zhang Z, Allegaert K, Zhang Y, Luo S, Fang Y, Chen Y, Wei H, Li D.   +10 more
europepmc   +1 more source

Congenital nephrotic syndrome in a newborn with glycogen storage disease and Wilms tumor 1 (WT1) mutation. [PDF]

CEN Case Rep
Annicchiarico Petruzzelli L, De Marco O, Improda N, Giannattasio P, Luongo I, Carucci M, Brunetti B, Serio V, Minale B, Malgieri G.   +9 more
europepmc   +1 more source