Cell
Volume 79, Issue 6, 16 December 1994, Pages 1111-1120
Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9
References (43)
- et al.
HMG domain proteins: architectural elements in the assembly of nucleoprotein structures
Trends Genet.
(1994) - et al.
High-resolution cytogenetic mapping of 342 new cosmid markers including 43 RFLP markers on human chromosome 17 by fluorescence in situ hybridization
Genomics
(1993) - et al.
The proline-rich transcriptional activator of CTF/NF-I is distinct from the replication and DNA binding domain
Cell
(1989) - et al.
Distribution of cartilage proteoglycan (aggrecan) core protein and link protein gene expression during human skeletal development
Matrix
(1991) - et al.
Familial campomelic dwarfism
J. Pediatr.
(1973) The rise and fall of positional cloning
Nature Genet.
(1993)- et al.
A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal
Nature Genet.
(1994) - et al.
Deletion 9p and sex reversal
J. Med. Genet.
(1993) - et al.
Genetic evidence equating SRY and the testis-determining factor
Nature
(1990) - et al.
Deletion of Y chromosome sequences located outside the testis determining region can cause XY female sex reversal
Nature Genet.
(1993)
The human SRY transcript
Hum. Mol. Genet.
(1993)
SRY protein enhances transription of Fos-related antigen 1 promoter constructs
Sex-reversed XY females with campomelic dysplasia are H-Y negative
Hum. Genet.
(1981)
An SRY-related gene expressed during spermatogenesis in the mouse encodes a sequence-specific DNA-binding protein
EMBO J.
(1992)
No evidence of mutations in four candidate genes for male sex determination/differentiation in sex-reversed XY females with campomelic dysplasia
Ann. Genet.
(1991)
A de novo phenylketonuria mutation: ATG(Met) to ATA(lle) in the start codon of the phenylalanine hydroxylase gene
Hum. Mutal.
(1992)
Human haploinsufficiency: one for sorrow, two for joy
Nature Genet.
(1994)
Transcriptional activation modulated by homopolymeric glutamine and proline stretches
Science
(1994)
Definition of a consensus DNA binding site for SRY
Nucl. Acids Res.
(1994)
The campomelic syndrome: review, report of 17 cases, and follow-up on the currently 17-year old boy first reported by Maroteaux et al. in 1971
Am. J. Med. Genet.
(1983)
A human XY female with a frame shift mutation in the candidate testis-determining gene SRY
Nature
(1990)
Cited by (0)
Copyright © 1994 Cell Press. Published by Elsevier Inc. All rights reserved.