SRY mutation analysis by next generation (deep) sequencing in a cohort of chromosomal Disorders of Sex Development (DSD) patients with a mosaic karyotype

Remko Hersmus; Hans Stoop; Erin Turbitt; Jan Wolter A Oosterhuis; Stenvert L S Drop; Andrew Sinclair; Stefan White; Leendert H Looijenga

doi:10.1186/1471-2350-13-108

SRY mutation analysis by next generation (deep) sequencing in a cohort of chromosomal Disorders of Sex Development (DSD) patients with a mosaic karyotype

Remko Hersmus, Hans Stoop, Erin Turbitt, Jan Wolter A Oosterhuis, Stenvert L S Drop, Andrew Sinclair, Stefan White, Leendert H Looijenga

Research output: Contribution to journal › Article › Research › peer-review

17 Citations (Scopus)

Abstract

To thoroughly investigate the presence of possible SRY gene mutations in mosaic DSD patients, we performed next generation (deep) sequencing on the genomic DNA of fourteen independent patients (twelve 45, X/46,XY, one 45,X/46,XX/46,XY, and one 46,XX/46,XY).

Original language	English
Pages (from-to)	1 - 7
Number of pages	7
Journal	BMC Medical Genetics
Volume	13
Issue number	Art. No.:108
DOIs	https://doi.org/10.1186/1471-2350-13-108
Publication status	Published - 2012

Access to Document

10.1186/1471-2350-13-108

Cite this

@article{84da628aa23947af8ac0d094a33c9894,

title = "SRY mutation analysis by next generation (deep) sequencing in a cohort of chromosomal Disorders of Sex Development (DSD) patients with a mosaic karyotype",

abstract = "To thoroughly investigate the presence of possible SRY gene mutations in mosaic DSD patients, we performed next generation (deep) sequencing on the genomic DNA of fourteen independent patients (twelve 45, X/46,XY, one 45,X/46,XX/46,XY, and one 46,XX/46,XY).",

author = "Remko Hersmus and Hans Stoop and Erin Turbitt and Oosterhuis, {Jan Wolter A} and Drop, {Stenvert L S} and Andrew Sinclair and Stefan White and Looijenga, {Leendert H}",

year = "2012",

doi = "10.1186/1471-2350-13-108",

language = "English",

volume = "13",

pages = "1 -- 7",

journal = "BMC Medical Genetics",

issn = "1471-2350",

publisher = "BioMed Central",

number = "Art. No.:108",

}

TY - JOUR

T1 - SRY mutation analysis by next generation (deep) sequencing in a cohort of chromosomal Disorders of Sex Development (DSD) patients with a mosaic karyotype

AU - Hersmus, Remko

AU - Stoop, Hans

AU - Turbitt, Erin

AU - Oosterhuis, Jan Wolter A

AU - Drop, Stenvert L S

AU - Sinclair, Andrew

AU - White, Stefan

AU - Looijenga, Leendert H

PY - 2012

Y1 - 2012

N2 - To thoroughly investigate the presence of possible SRY gene mutations in mosaic DSD patients, we performed next generation (deep) sequencing on the genomic DNA of fourteen independent patients (twelve 45, X/46,XY, one 45,X/46,XX/46,XY, and one 46,XX/46,XY).

AB - To thoroughly investigate the presence of possible SRY gene mutations in mosaic DSD patients, we performed next generation (deep) sequencing on the genomic DNA of fourteen independent patients (twelve 45, X/46,XY, one 45,X/46,XX/46,XY, and one 46,XX/46,XY).

U2 - 10.1186/1471-2350-13-108

DO - 10.1186/1471-2350-13-108

M3 - Article

SN - 1471-2350

VL - 13

SP - 1

EP - 7

JO - BMC Medical Genetics

JF - BMC Medical Genetics

IS - Art. No.:108

ER -