Results 111 to 120 of about 169,144,440 (149)

A Novel Approach Using Microarray Testing as a Screening Method with Clinical Validation Using Whole-Genome Sequencing and Karyotyping for Identifying 46,XX Testicular Differences of Sex Development. [PDF]

Diagnostics (Basel)
Ozeki T, Nakano Y, Ishigaki A, Kawashima Y, Crawford CW, Ordinario DD, Sato-Baran I, Higashida T.   +7 more
europepmc   +1 more source

Kidney transplantation outcomes in children with WT1-associated kidney disease: a single-center cohort study. [PDF]

Front Pediatr
Abasi R, Zhilang L, Mengjie J, Longshan L, Xiaoyun J, Yuxin P.   +5 more
europepmc   +1 more source

Sexual functioning, mental health and quality of life in 46,XX male: a case report. [PDF]

J Med Case Rep
Salama N, Hassan OS, Lado DK.
europepmc   +1 more source

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

SRY-negative 46,XX testicular disorder of sex development (de la Chapelle syndrome) presenting with primary infertility: a case report. [PDF]

JBRA Assist Reprod
Srivastava S, Sharma S.
europepmc   +1 more source

Clinical phenotype, gonadal development, and comorbidity spectrum in 43 children with triple X syndrome: a single-center retrospective descriptive case series with cytogenetic refinement in patients with and without X-monosomy-containing cell lines. [PDF]

Transl Pediatr
Feng YQ, Li WT, Zou HY, Xu QB, Yang L.
europepmc   +1 more source

Partial trisomy of 1q42.1 and 8q24.3 deletion: a family history. [PDF]

Rev Paul Pediatr
Moraes NM, Nunes MR, Mergener R, Silveira AKBD, Peruzzo HF, Nascimento LPC, Riegel M, Zen PRG.   +7 more
europepmc   +1 more source

Gonadal Function and Its Evolution in 46,XX Testicular/Ovotesticular DSD.

J Clin Endocrinol Metab
Sepich M, Bertelloni S, Tyutyusheva N, Lucas-Herald A, Mazen I, Cools M, Van Paemel R, Poyrazoğlu Ş, Hiort O, Döhnert U, Neumann U, Phan-Hug F, Atapattu N, Seneviratne S, Markosyan R, Rey R, Suco S, Baronio F, Lichiardopol C, Verkauskas G, Stancampiano M, Russo G, Konrad D, Lenherr-Taube N, Hannema S, Gazdagh G, Peroni D, Ahmed SF.   +27 more
europepmc   +1 more source

Influence of X-Chromosome Inactivation in Pathogenesis of Turner Syndrome. [PDF]

Epigenomes
Grigore AM, Caba L, Iacob VT, Antoci LM, Pânzaru MC, Butnariu LI, Gorduza EV.   +6 more
europepmc   +1 more source

Male sex assignment in severely virilized 46,XX children with congenital adrenal hyperplasia. [PDF]

Front Endocrinol (Lausanne)
Beniczky NJ, Magyar EL, Sallai Á, Jenővári Z, Sükösd Z, Vajda Z, Steenkamp YL, Szücs N, Bertalan R.   +8 more
europepmc   +1 more source