Results 191 to 200 of about 21,834 (238)

[Clinical, hormonal and molecular genetic characteristics of 18 cases of disorders of sex development (DSD) 46,XY associated with variants in the <i>SRD5A2</i> gene]. [PDF]

Probl Endokrinol (Mosk)
Kalinchenko NY, Makretskaya NA, Kolodkina AA, Kareva MA, Tiulpakov AN.   +4 more
europepmc   +1 more source

Genotype-Phenotype Correlations in Klinefelter and Turner Syndrome: A Decade of Sex Chromosome Aneuploidy Data From a Single Academic Medical Center. [PDF]

Mol Genet Genomic Med
Hart SA, Morales-Rosado JA, Xu X, Yenamandra AK.   +3 more
europepmc   +1 more source

A Novel POR G88S Mutation Causes Severe PORD and Establishes a Critical Pharmacogenomic Risk Profile.

J Clin Endocrinol Metab
Rojas Velazquez MN, Lopez Dacal J, Jørgensen FS, Sanguineti N, Sharma K, Marino R, Pérez Garrido N, Vaiani E, Ramírez P, Scaglia P, Izquierdo A, Sansó G, Ropelato MG, Bergadá I, Rey RA, Grinspon RP, Pandey AV.   +16 more
europepmc   +1 more source

Patient and Parent Perceptions of Disorders of Sex Development Terminology: A Pilot Study. [PDF]

Arch Sex Behav
Sharp S, Williams L, Yashar B, Mohnach L, Fitzgerald JT, Ernst MM, Schafer-Kalkhoff T, Gomez-Lobo V, Sandberg DE.   +8 more
europepmc   +1 more source

NR5A1 gene variants in infertile Senegalese men: Discovery of a novel missense variant and genotype-phenotype correlation. [PDF]

J Genet Eng Biotechnol
Diallo AD, Ndiaye A, Diop N, Gueye FD, Gueye MV, Dia Y, Thiam A, Diallo AS, Ndiaye R, Faye O, Sy M.   +10 more
europepmc   +1 more source

Sex in Sport [PDF]

, 2017
Coleman, Doriane Lambelet
core   +1 more source

Gene therapy for disorders of sex development: current applications and future challenges. [PDF]

Front Genet
Peng W, Zhao Q, Chen J, Peng H, Jiang H.
europepmc   +1 more source

Evaluation and management of DMD gene copy number variations detected by prenatal SNP-array testing. [PDF]

BMC Med Genomics
Hu J, Pang J, Hu R, Zhou L, Yu W, Xi H, Luo Y, Yang S, Tang W, Hu A, Chen J, Peng Y.   +11 more
europepmc   +1 more source

Bilateral breast nodules as an unusual manifestation of 17α-hydroxylase/17,20-lyase deficiency. [PDF]

Front Endocrinol (Lausanne)
Zhang M, Huang X, Li Q, Gui S, Lin S, Fan G, Yang J.   +6 more
europepmc   +1 more source

Upstream SOX9 deletion in a 46,XY girl with acampomelic campomelic dysplasia and absent minipuberty. [PDF]

Orphanet J Rare Dis
Szoszkiewicz A, Bukowska-Olech E, Kurzawa P, Sowińska-Seidler A, Niedziela M, Kolesińska Z, Jamsheer A.   +6 more
europepmc   +1 more source