Results 101 to 110 of about 3,493 (177)

Germline activating MTOR mutation arising through gonadal mosaicism in two brothers with megalencephaly and neurodevelopmental abnormalities. [PDF]

BMC Med Genet, 2015
Mroske C, Rasmussen K, Shinde DN, Huether R, Powis Z, Lu HM, Baxter RM, McPherson E, Tang S.   +8 more
europepmc   +1 more source

<italic>WT1</italic> Deletion in 46,XY DSD: The Importance of Copy Number Variant Analysis.

Sex Dev
Atlas G, Bell KM, Robevska G, van den Bergen J, Hadiprajitno PI, Listyasari N, Santosa A, Juniarto AZ, Francis DI, O Apos Connell MA, Tan TY, Tucker E, Faradz SMH, Sinclair A, Ayers K.   +14 more
europepmc   +1 more source

Mixed Gonadal Dysgenesis: A Comprehensive Review of Clinical Spectrum, Diagnostic Strategies, and Management Approaches. [PDF]

Clin Endocrinol (Oxf)
Giri D, Yewale S, Hickingbotham H, Williams C, Shalaby M, Alderson J, Park J.   +6 more
europepmc   +1 more source

Case Report: Prenatal genetic analysis of a rare fetus with 45, X/46, X, dic r (Y; Y)/46, X, r(Y) karyotype. [PDF]

Front Genet
Deng G, Liang X, Lai Y, Song J, Pan J, Lu Y, Li L, Liang Y.   +7 more
europepmc   +1 more source

Paternal mosaicism in <i>ASXL3</i>-related bainbridge-ropers syndrome: implications for genetic counseling and prenatal diagnosis. [PDF]

Front Pediatr
Zhao B, Ding F, Hou F, Jin H.
europepmc   +1 more source

Challenging interpretation of low-level PTCH1 mosaicism in patients with clinically diagnosed Gorlin syndrome: a case series and review of the literature. [PDF]

Hered Cancer Clin Pract
Dwarte TM, Alli R, Srinivasa S, Noon F, Perera Kimmantudawage S, Gordon L, Beshay V, Joshua AM, Ruiz Araujo R, Jalilian C, Thomas DM, Smith MJ, Winship I, Ballinger ML, Li M, Tucker KM, Courtney EK.   +16 more
europepmc   +1 more source

Balancing oncologic risk and fertility potential: a single-center study on Turner syndrome patients with Y chromosome material. [PDF]

Front Endocrinol (Lausanne)
Shuai X, Guo Z, Zhang D, Huang H, Chen K, Yang Y, Hu Q.   +6 more
europepmc   +1 more source

Urological management in a pediatric patient with mixed gonadal dysgenesis. [PDF]

Urol Case Rep
Chipa Beizaga WM, Orbegoso Celis LJ, Torres Marigorda BJ, Aguilar Ulloque MM, García Murga KN, Linares Vega V, Imán Izquierdo FJ, Aquino-Ortega R, Del Valle-Mendoza J, Silva-Caso WG.   +9 more
europepmc   +1 more source

Cytogenomic Investigation of Individuals with Ovotesticular Difference of Sex Development.

Sex Dev
Lima-Santos J, Nascimento-Vidoti CG, Correia-Costa GR, Campos NLV, Guaragna MS, de Oliveira FM, Barros BA, Miranda ML, Antolini Tavares A, Guerra-Junior G, Maciel-Guerra AT, Fabbri-Scallet H, Vieira TP.   +12 more
europepmc   +1 more source

Ring Y chromosome as an unusual cause of severe oligozoospermia. [PDF]

Endocrinol Diabetes Metab Case Rep
Chong S, Muir CA.
europepmc   +1 more source