Cargando…

Mutation analysis of mitogen activated protein kinase 1 gene in Indian cases of 46,XY disorder of sex development

BACKGROUND: Determination of sex is the result of cascade of molecular events that cause undifferentiated bipotential gonad to develop as a testis or an ovary. A series of genes such as SRY, steroidogenic factor-1 (SF1), AR, SRD5 α, Desert hedgehog (DHH) etc., have been reported to have a significan...

Descripción completa

Detalles Bibliográficos
Autores principales:	Das, Dhanjit Kumar, Rahate, Subodh G, Mehta, Bhakti P, Gawde, Harshavardhan M, Tamhankar, Parag M
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Medknow Publications & Media Pvt Ltd 2013
Materias:	Original Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3897139/ https://www.ncbi.nlm.nih.gov/pubmed/24497709 http://dx.doi.org/10.4103/0971-6866.124372

Ejemplares similares

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

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

Sex rearing in individuals with 46,XY disorders of sex development prior to diagnosis
por: Marzuki, Nanis S, et al.
Publicado: (2013)

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)

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)

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

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

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

Identification of Novel Mutations in STAR Gene in Patients with Lipoid Congenital Adrenal Hyperplasia: A First Report from India
por: Vasudevan, Lakshmi, et al.
Publicado: (2013)

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)

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

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 de novo androgen receptor nonsense mutation in a sex-reversed 46,XY infant
por: Poon, Kok-Siong, et al.
Publicado: (2021)

Failure of SOX9 Regulation in 46XY Disorders of Sex Development with SRY, SOX9 and SF1 Mutations
por: Knower, Kevin C., et al.
Publicado: (2011)

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)

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

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

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

Pubertal development in 46,XY patients with NR5A1 mutations
por: Mönig, Isabel, et al.
Publicado: (2021)

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)

SUN-035 Performance of Mutation Pathogenicity Prediction Tools on Missense Variants Associated with 46XY Disorders of Sex Development
por: Montenegro, Luciana, et al.
Publicado: (2019)

Concomitant Mutations in the P450 Oxidoreductase and Androgen Receptor Genes Presenting with 46,XY Disordered Sex Development and Androgenization at Adrenarche
por: Idkowiak, Jan, et al.
Publicado: (2010)

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

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

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

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)

Identification of a novel mutation in the SRD5A2 gene of one patient with 46,XY disorder of sex development
por: Li, Shu-Ping, et al.
Publicado: (2018)

Novel DHCR7 mutation in a case of Smith–Lemli–Opitz syndrome showing 46,XY disorder of sex development
por: Tamura, Mayuko, et al.
Publicado: (2017)

SUN-074 Loss-Of-Function Mutations in GATA4 in Patients with 46,XY Disorders of Sex Development Without Cardiac Defects
por: Lee, Yena, et al.
Publicado: (2020)

Prevalence of gene mutations in a Chinese 46,XY disorders of sex development cohort detected by targeted next-generation sequencing
por: Yu, Bing-Qing, et al.
Publicado: (2020)

A case report of 46,XY partial gonadal dysgenesis caused by a novel mutation in the sex-determining region gene
por: Xu, Ke, et al.
Publicado: (2020)

Screening of Y chromosome microdeletions in 46,XY partial gonadal dysgenesis and in patients with a 45,X/46,XY karyotype or its variants
por: dos Santos, Ana Paula, et al.
Publicado: (2013)

A 45,X/46,XY DSD (Disorder of Sexual Development) case with an extremely uneven distribution of 46,XY cells between lymphocytes and gonads
por: Nomura, Risa, et al.
Publicado: (2015)

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)

Ovotesticular disorder of sex development in a 46 XY adolescent: a rare case report with review of the literature
por: Bbs, Koui, et al.
Publicado: (2023)

Acne in Klinefelter Syndrome-46XY/47XXY Mosaicism?
por: Lakshmi, Chembolli, et al.
Publicado: (2015)

Cannot write session to /tmp/vufind_sessions/sess_ce2mbvjop4kd69nlh0dlm2v578