Cargando…

Sex rearing in individuals with 46,XY disorders of sex development prior to diagnosis

Detalles Bibliográficos
Autores principales:	Marzuki, Nanis S, Suciati, Lita P, Paramayuda, Chrysantine, Kartapradja, Hannie D, Tridaja, Bambang
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2013
Materias:	Poster Presentation
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3850422/ http://dx.doi.org/10.1186/1687-9856-2013-S1-P192

Ejemplares similares

Loss of DMRT1 gene in a Mos 45,XY,-9[8]/46,XY,r(9)[29]/47,XY,+idic r(9)× 2[1]/46,XY,idic r(9)[1]/46,XY[1] female presenting with short stature
por: Marsudi, Bagas A., et al.
Publicado: (2018)

Diversity of sex chromosome abnormalities in a cohort of 95 Indonesian patients with monosomy X
por: Marzuki, Nanis S, et al.
Publicado: (2011)

Chromosome abnormalities in Indonesian patients with short stature
por: Paramayuda, Chrysantine, et al.
Publicado: (2012)

Clinical presentations and molecular characterization of Indonesian children with 5 alpha-reductase deficiency
por: Marzuki, Nanis S, et al.
Publicado: (2013)

Exceptional Complex Chromosomal Rearrangements in Three Generations
por: Kartapradja, Hannie, et al.
Publicado: (2015)

Etiologies of 46,XY disorders of sex development (DSD): a collaborative study in Hong Kong
por: But, WM, et al.
Publicado: (2013)

46,XY disorder of sex development and wilms’ tumor due to mutation of WT1 gene: a case report
por: Dung, Vu Chi, et al.
Publicado: (2015)

Accuracy of Urinary Etiocholanolone/Androsterone Ratio as Alternative to Serum Testosterone/Dihydrotestosterone Ratio for Diagnosis of 5 Alpha-reductase Type 2 Deficiency Patients and Carriers in Indonesia
por: Marzuki, Nanis Sacharina, et al.
Publicado: (2021)

MON-245 Sexuality and Fertility Issues in 46,XY Disorders of Sex Development Individuals
por: Batista, Rafael, et al.
Publicado: (2019)

Characterising SRD5A2 Gene Variants in 37 Indonesian Patients with 5-Alpha-Reductase Type 2 Deficiency
por: Marzuki, Nanis S., et al.
Publicado: (2019)

Behavioural Problems in Children with 46XY Disorders of Sex Development
por: M. Selveindran, Nalini, et al.
Publicado: (2017)

Integrating clinical and genetic approaches in the diagnosis of 46,XY disorders of sex development
por: Kolesinska, Zofia, et al.
Publicado: (2018)

Sexuality and fertility desire in a large cohort of individuals with 46, XY differences in sex development
por: Batista, Rafael Loch, et al.
Publicado: (2023)

Gender identity and gender of rearing in 46 XY disorders of sexual development
por: Gangaher, Arushi, et al.
Publicado: (2016)

46,XY female sex reversal syndrome with bilateral gonadoblastoma and dysgerminoma
por: DU, XUE, et al.
Publicado: (2014)

46,XY ovotesticular disorders of sex development: A therapeutic challenge
por: Scarpa, Maria-Grazia, et al.
Publicado: (2017)

Disorders/Differences of Sex Development Presenting in the Newborn With 46,XY Karyotype
por: Bertelloni, Silvano, et al.
Publicado: (2021)

THU185 Molecular Etiologic Spectrum Of Patients With 46,XY And 46,XX Disorders Of Sex Development
por: Kim, Ja Hye, et al.
Publicado: (2023)

Cryptic Genomic Rearrangements in Three Patients with 46,XY Disorders of Sex Development
por: Igarashi, Maki, et al.
Publicado: (2013)

Submicroscopic copy-number variations associated with 46,XY disorders of sex development
por: Kon, Masafumi, et al.
Publicado: (2015)

Androgens by immunoassay and mass spectrometry in children with 46,XY disorder of sex development
por: Oliveira, Letícia Ribeiro, et al.
Publicado: (2020)

A novel mutation in the SRY gene causing 46 XY complete gonadal dysgenesis in a Chinese patient
por: Man, Elim, et al.
Publicado: (2013)

Osteogenesis imperfecta in children: Indosesian experiences
por: Rochmah, Nur, et al.
Publicado: (2013)

Physical assessment and reference growth curves for children with 46, XY disorders of sex development
por: Wu, Di, et al.
Publicado: (2017)

Novel heterozygous mutations of the SF1 gene and their functional characterization in patients with 46,XY disorders of sex development (DSD) without adrenal insufficiency
por: Choi, Jin-Ho, et al.
Publicado: (2015)

Clinical, hormonal and chromosomal analysis of undervirilized male/46XY DSD – a 3years experience of national institute of child health
por: Atta, Irum, et al.
Publicado: (2013)

Long-Term Follow-Up of Patients with 46,XY Partial Gonadal Dysgenesis Reared as Males
por: Gabriel Ribeiro de Andrade, Juliana, et al.
Publicado: (2014)

Copy Number Variation in Patients with Disorders of Sex Development Due to 46,XY Gonadal Dysgenesis
por: White, Stefan, et al.
Publicado: (2011)

“Spectrum of 46 XY Disorders of Sex Development”: A Hospital-based Cross-sectional Study
por: Das, Samiran, et al.
Publicado: (2020)

Reference growth data in 46,XY disorders of sex development from a single center
por: Saenger, Paul
Publicado: (2017)

Fully Masculinized 46,XX Individuals with Congenital Adrenal Hyperplasia: Perspective Regarding Sex of Rearing and Surgery
por: L Jones, Collin, et al.
Publicado: (2022)

Female with 46, XY karyotype
por: Jung, Eun Jung, et al.
Publicado: (2017)

Characteristic of patients with disorders of sex development (DSD) in Cipto Mangunkusumo Hospital, Jakarta
por: Utari, Agustini, et al.
Publicado: (2013)

GATA4 mutations are uncommon in patients with 46,XY disorders of sex development without heart anomaly
por: Igarashi, Maki, et al.
Publicado: (2018)

Performance of mutation pathogenicity prediction tools on missense variants associated with 46,XY differences of sex development
por: Montenegro, Luciana R., et al.
Publicado: (2021)

GATA-4 Variants in Two Unrelated Cases with 46, XY Disorder of Sex Development and Review of the Literature
por: Çelik, Nurullah, et al.
Publicado: (2022)

A Novel Variant in NR5A1 Presenting as 46,XY Difference of Sex Development
por: Yu, Yunting, et al.
Publicado: (2023)

Molecular Diagnosis of 5α-Reductase Type II Deficiency in Brazilian Siblings with 46,XY Disorder of Sex Development
por: de Calais, Flávia Leme, et al.
Publicado: (2011)

XY sex determination in a cnidarian
por: Chen, Ruoxu, et al.
Publicado: (2023)

SUN-091 Change in Sex of Rearing in Individuals with Disorders of Sex Development
por: Knoll, Michele, et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_2pbgamme0m9dq8keu3759a5t10