Results 91 to 100 of about 169,144,440 (149)

Spectrum of Cytogenetic and Molecular Abnormalities in Disorders of Sex Development: A Retrospective Observational Study From Western India. [PDF]

Cureus
Acharya S, Chakrabarty B, Bansal N, Roy S, Kotwal N, Dagar V.   +5 more
europepmc   +1 more source

Constitutional Ring Chromosomes in Greek Pediatric Patients: A 50-year Single-center Cytogenetic Study. [PDF]

In Vivo
Kouvidi E, Grigoriadou M, Leiletzoglou E, Kolialexi A.   +3 more
europepmc   +1 more source

Two siblings with lipoid congenital adrenal hyperplasia: first reported case in Serbia and literature review. [PDF]

Front Endocrinol (Lausanne)
Jesic MD, Kovacevic S, Zdravkovic V, Pavlovic S, Skakic A, Gasic V, Mijovic M, Jesic MM, Lukic L.   +8 more
europepmc   +1 more source

Extended genotype-phenotype spectrum of 17α-hydroxylase/17,20-lyase deficiency: a nine-case series featuring a novel mutation, suspected TART-like lesions, and multisystem involvement. [PDF]

Front Endocrinol (Lausanne)
Chong H, Fu Y, Zhang X, Zhang Y, Yan X, Pi Y.   +5 more
europepmc   +1 more source

Using SNP microarray to distinguish mosaicism from chimerism in a phenotypically normal male newborn with prenatal 46,XX/46,XY karyotype. [PDF]

Mol Cytogenet
Chen JC, Su PH, Jong YJ, Huang PC, Cheng SY, Lin YH.   +5 more
europepmc   +1 more source

A dynamic "hormonal tug-of-war" driven by a functioning ovarian remnant after testis-preserving partial gonadectomy in ovotesticular disorders of sex development: a case report. [PDF]

Clin Pediatr Endocrinol
Johnin K, Matsui K, Moritani S, Chatani S, Itoh R, Mori Y, Nakagawa S, Kobayashi K, Yoshida T, Kageyama S.   +9 more
europepmc   +1 more source

Combined optical genome mapping and cnv-seq identify complex Y-chromosome rearrangements and ectopy in 46,XX testicular disorder of sex development. [PDF]

Mol Cytogenet
Wang H, Wang H, Xu Z, Chen P, Zheng X, Pan H, Zhang H, Zheng J.   +7 more
europepmc   +1 more source

Beckwith-Wiedemann spectrum exhibiting a 46,XY karyotype caused by genome-wide paternal uniparental heterodisomy: a case report. [PDF]

Hum Genomics
Hara S, Sato T, Shimokawa O, Pooh R, Watanabe Y, Kubiura-Ichimaru M, Soejima H.   +6 more
europepmc   +1 more source

Mosaic Trisomy 14 with Severe Short Stature: A Case Report. [PDF]

Genes (Basel)
Yin C, Ye J, Hou L, Luo X.
europepmc   +1 more source

Incidental discovery of neglected 11β-hydroxylase deficiency causing 46,XX disorder of sex development in a 35-year-old adult: A radiologically driven diagnosis. [PDF]

Radiol Case Rep
Abouchiba S, Ennejjari N, Ouazzani H, Chaouche I, Akammar A, Haloua M, Alami B, Lamrani MYA, Boubbou M, Maaroufi M, El Bouardi N.   +10 more
europepmc   +1 more source