Cargando…

Cryptic Genomic Rearrangements in Three Patients with 46,XY Disorders of Sex Development

BACKGROUND: 46,XY disorders of sex development (46,XY DSD) are genetically heterogeneous conditions. Recently, a few submicroscopic genomic rearrangements have been reported as novel genetic causes of 46,XY DSD. METHODOLOGY/PRINCIPAL FINDINGS: To clarify the role of cryptic rearrangements in the dev...

Descripción completa

Detalles Bibliográficos
Autores principales:	Igarashi, Maki, Dung, Vu Chi, Suzuki, Erina, Ida, Shinobu, Nakacho, Mariko, Nakabayashi, Kazuhiko, Mizuno, Kentaro, Hayashi, Yutaro, Kohri, Kenjiro, Kojima, Yoshiyuki, Ogata, Tsutomu, Fukami, Maki
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2013
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3704668/ https://www.ncbi.nlm.nih.gov/pubmed/23861871 http://dx.doi.org/10.1371/journal.pone.0068194

Ejemplares similares

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

Nonsense-associated altered splicing of MAP3K1 in two siblings with 46,XY disorders of sex development
por: Igarashi, Maki, et al.
Publicado: (2020)

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

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)

Endocrinopathies in a boy with cryptic copy-number variations on 4q, 7q and Xp
por: Okuno, Misako, et al.
Publicado: (2015)

MIRAGE syndrome is a rare cause of 46,XY DSD born SGA without adrenal insufficiency
por: Shima, Hirohito, et al.
Publicado: (2018)

Expression of Xenobiotic Biomarkers CYP1 Family in Preputial Tissue of Patients with Hypospadias and Phimosis and Its Association with DNA Methylation Level of SRD5A2 Minimal Promoter
por: Ohsako, Seiichiroh, et al.
Publicado: (2017)

Screening of MAMLD1 Mutations in 70 Children with 46,XY DSD: Identification and Functional Analysis of Two New Mutations
por: Kalfa, Nicolas, et al.
Publicado: (2012)

Prepuce: Phimosis, Paraphimosis, and Circumcision
por: Hayashi, Yutaro, et al.
Publicado: (2011)

Individual Variation of the Genetic Response to Bisphenol A in Human Foreskin Fibroblast Cells Derived from Cryptorchidism and Hypospadias Patients
por: Qin, Xian-Yang, et al.
Publicado: (2012)

Identification of Novel Low-Dose Bisphenol A Targets in Human Foreskin Fibroblast Cells Derived from Hypospadias Patients
por: Qin, Xian-Yang, et al.
Publicado: (2012)

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)

Neuropathic Bladder Caused by Caudal Regression Syndrome without Any Other Neurogenic Symptoms
por: Moritoki, Yoshinobu, et al.
Publicado: (2012)

Methylation status of genes escaping from X-chromosome inactivation in patients with X-chromosome rearrangements
por: Kawashima, Sayaka, et al.
Publicado: (2021)

Epimutations of the IG-DMR and the MEG3-DMR at the 14q32.2 imprinted region in two patients with Silver–Russell Syndrome-compatible phenotype
por: Kagami, Masayo, et al.
Publicado: (2015)

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

Paradoxical gain‐of‐function mutant of the G‐protein‐coupled receptor PROKR2 promotes early puberty
por: Fukami, Maki, et al.
Publicado: (2017)

Skeletal Deformity Associated with SHOX Deficiency
por: Seki, Atsuhito, et al.
Publicado: (2014)

NDNF variants are rare in patients with congenital hypogonadotropic hypogonadism
por: Tamaoka, Satoshi, et al.
Publicado: (2021)

Exploration of hydroxymethylation in Kagami-Ogata syndrome caused by hypermethylation of imprinting control regions
por: Matsubara, Keiko, et al.
Publicado: (2015)

The p.R92W variant of NR5A1/Nr5a1 induces testicular development of 46,XX gonads in humans, but not in mice: phenotypic comparison of human patients and mutation-induced mice
por: Miyado, Mami, et al.
Publicado: (2016)

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)

Testicular dysgenesis/regression without campomelic dysplasia in patients carrying missense mutations and upstream deletion of SOX9
por: Katoh‐Fukui, Yuko, et al.
Publicado: (2015)

Molecular Bases and Phenotypic Determinants of Aromatase Excess Syndrome
por: Fukami, Maki, et al.
Publicado: (2012)

Understanding the pathological manifestations of aromatase excess syndrome: lessons for clinical diagnosis
por: Shozu, Makio, et al.
Publicado: (2014)

Aromatase excess syndromeas a model for genomic disorder: identification of molecular bases and phenotypic determinants
por: Ogata, Tsutomu, et al.
Publicado: (2013)

MAMLD1 (CXorf6) is a New Gene for Hypospadias
por: Ogata, Tsutomu, et al.
Publicado: (2008)

Coffin‐Lowry syndrome in a girl with 46,XX,t(X;11)(p22;p15)dn: Identification of RPS6KA3 disruption by whole genome sequencing
por: Yamoto, Kaori, et al.
Publicado: (2020)

Random X chromosome inactivation in patients with Klinefelter syndrome
por: Kinjo, Kenichi, 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)

SOX10 Mutation Screening for 117 Patients with Kallmann Syndrome
por: Shima, Hirohito, et al.
Publicado: (2021)

Genome-wide multilocus imprinting disturbance analysis in Temple syndrome and Kagami-Ogata syndrome
por: Kagami, Masayo, et al.
Publicado: (2017)

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

Mosaic Turner Syndrome Presenting with a 46,XY Karyotype
por: Rasouli, Melody, et al.
Publicado: (2019)

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

Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome
por: McElreavey, Ken, et al.
Publicado: (2019)

Rare variant of the epigenetic regulator SMCHD1 in a patient with pituitary hormone deficiency
por: Kinjo, Kenichi, et al.
Publicado: (2020)

Wide spectrum of NR5A1‐related phenotypes in 46,XY and 46,XX individuals
por: Domenice, Sorahia, et al.
Publicado: (2016)

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

Exploring disease-specific methylated CpGs in human male genital abnormalities by using methylated-site display-amplified fragment length polymorphism (MSD-AFLP)
por: AIBA, Toshiki, et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_dssedtmgttoil9vs19618u41l0