Related references
Note: Only part of the references are listed.Complex genomic rearrangement in the SOX9 5' region in a patient with Pierre Robin sequence and hypoplastic left scapula
Maki Fukami et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2012)
American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants
Hutton M. Kearney et al.
GENETICS IN MEDICINE (2011)
XX males SRY negative: a confirmed cause of infertility
Annalisa Vetro et al.
JOURNAL OF MEDICAL GENETICS (2011)
Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development
Sabina Benko et al.
JOURNAL OF MEDICAL GENETICS (2011)
Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants
Dalila Pinto et al.
NATURE BIOTECHNOLOGY (2011)
A SOX9 Duplication and Familial 46,XX Developmental Testicular Disorder.
James J. Cox et al.
NEW ENGLAND JOURNAL OF MEDICINE (2011)
Copy Number Variation in Patients with Disorders of Sex Development Due to 46,XY Gonadal Dysgenesis
Stefan White et al.
PLOS ONE (2011)
Translocation and Deletion around SOX9 in a Patient with Acampomelic Campomelic Dysplasia and Sex Reversal
S. Jakubiczka et al.
SEXUAL DEVELOPMENT (2010)
Familial Acampomelic Form of Campomelic Dysplasia Caused by a 960 kb Deletion Upstream of SOX9
Claire Lecointre et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2009)
High-resolution mapping and analysis of copy number variations in the human genome: A data resource for clinical and research applications
Tamim H. Shaikh et al.
GENOME RESEARCH (2009)
Long-range regulation at the SOX9 locus in development and disease
C. T. Gordon et al.
JOURNAL OF MEDICAL GENETICS (2009)
Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence
Sabina Benko et al.
NATURE GENETICS (2009)
Sex determination involves synergistic action of SRY and SF1 on a specific Sox9 enhancer
Ryohei Sekido et al.
NATURE (2008)
Pierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2
Linda P. Jakobsen et al.
JOURNAL OF MEDICAL GENETICS (2007)
SOX9cre1, a cis-acting regulatory element located 1.1 Mb upstream of SOX9, mediates its enhancement through the SHH pathway
Gabriel A. Bien-Willner et al.
HUMAN MOLECULAR GENETICS (2007)
Two novel translocation breakpoints upstream of SOX9 define borders of the proximal and distal breakpoint cluster region in campomelic dysplasia
M. Leipoldt et al.
CLINICAL GENETICS (2007)
The genetic basis of the Pierre Robin Sequence
LP Jakobsen et al.
CLEFT PALATE-CRANIOFACIAL JOURNAL (2006)
Regulation of the human Sox9 promoter by the CCAAT-binding factor
DC Colter et al.
MATRIX BIOLOGY (2005)
Position effects due to chromosome breakpoints that map ∼900 Kb upstream and ∼1.3 Mb downstream of SOX9 in two patients with campomelic dysplasia
GVN Velagaleti et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2005)
Long-range control of gene expression: Emerging mechanisms and disruption in disease
DA Kleinjan et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2005)
Screening of the 1 Mb SOX9 5′ control region by array CGH identifies a large deletion in a case of campomelic dysplasia with XY sex reversal -: art. no. e47
R Pop et al.
JOURNAL OF MEDICAL GENETICS (2004)
Sox9 is required for determination of the chondrogenic cell lineage in the cranial neural crest
Y Mori-Akiyama et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2003)
The transcrintion factor Sox9 has essential roles in successive steps of the chondrocyte differentiation pathway and is required for expression of Sox5 and Sox6
H Akiyama et al.
GENES & DEVELOPMENT (2002)
Share Paper
