Results 91 to 100 of about 3,493 (177)

Catamenial Hematuria in Mixed Gonadal Dysgenesis (45,X/46,XY): A Case Report of a Rare Presentation. [PDF]

Cureus
Anbarasu A, Sundaram J, Agarwal P, Subburaj K, Balasubramanian B.   +4 more
europepmc   +1 more source

A novel approach using long-read sequencing and ddPCR to investigate gonadal mosaicism and estimate recurrence risk in two families with developmental disorders. [PDF]

Prenat Diagn, 2017
Wilbe M, Gudmundsson S, Johansson J, Ameur A, Stattin EL, Annerén G, Malmgren H, Frykholm C, Bondeson ML.   +8 more
europepmc   +1 more source

Complete Androgen Insensitivity Syndrome (CAIS) Genetic Counseling: Navigating Germline Mosaicism Concerns. [PDF]

Case Rep Genet
Iacono LM, Levy PA, Baer TG.
europepmc   +1 more source

Gonadal Mosaicism Induced by Chemical Treatment of Sperm in Drosophila melanogaster. [PDF]

Genetics, 2016
Lindsley DL, Hardy RW, Ripoll P, Lindsley D.   +3 more
europepmc   +1 more source

Gonadal mosaicism in ARID1B gene causes intellectual disability and dysmorphic features in three siblings. [PDF]

Am J Med Genet A, 2016
Ben-Salem S, Sobreira N, Akawi NA, Al-Shamsi AM, John A, Pramathan T, Valle D, Ali BR, Al-Gazali L.   +8 more
europepmc   +1 more source

Prenatal diagnosis, genetic analysis, and pregnancy outcomes of fetuses with mosaic isodicentric Y chromosomes. [PDF]

Mol Cytogenet
Gao T, Wei H, Zheng Y, Xiao Y, Zheng M, Hong S.   +5 more
europepmc   +1 more source

A qPCR-based algorithm for the diagnosis of classic and non-classic Turner syndrome. [PDF]

Indian J Med Res
Bose C, Mondal S, Saha C, Sengupta N, Bhattacharyya NP, Mukhopadhyay S.   +5 more
europepmc   +1 more source

A highly rare female phenotype with complex chromosomal mosaicism: 46,XY/45,X/46,X,r(Y). [PDF]

Clin Exp Reprod Med
Maghsoomi Z, Abiri M, Golgiri F, Iraji H, Ghahestani SM, Tajikrostami F, Emtiazi N, Eghbali M.   +7 more
europepmc   +1 more source

37,X/38,XY mosaicism in a cat with a female phenotype and an enlarged clitoris. [PDF]

J Vet Med Sci
Yoshimura A, Kondo T, Morita S, Hirao D, Suzuki K, Fukushima R.   +5 more
europepmc   +1 more source

Scientific Symposium: Biological Sex as a Factor in Epilepsy Research and Treatment. [PDF]

Epilepsy Curr
Gross C, Christian-Hinman CA, Voinescu PE, Ziobro JM, Liu JS.   +4 more
europepmc   +1 more source