Related references
Note: Only part of the references are listed.Ovaries and Female Phenotype in a Girl with 46,XY Karyotype and Mutations in the CBX2 Gene
Anna Biason-Lauber et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2009)
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)
A unique 970 kb microdeletion in 9q33.3, including the NRSA1 gene in a 46,XY female
Anneke Van Silfhout et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2009)
Long-range regulation at the SOX9 locus in development and disease
C. T. Gordon et al.
JOURNAL OF MEDICAL GENETICS (2009)
RBM19 is essential for preimplantation development in the mouse
Jian Zhang et al.
BMC DEVELOPMENTAL BIOLOGY (2008)
Gene dosage imbalances in patients with 46,XY gonadal DSD detected by an in-house-designed synthetic probe set for multiplex ligation-dependent probe amplification analysis
M. Barbaro et al.
CLINICAL GENETICS (2008)
Dedicator of cytokinesis 8 is disrupted in two patients with mental retardation and developmental disabilities
Bradley L. Griggs et al.
GENOMICS (2008)
Stabilization of β-catenin in XY gonads causes male-to-female sex-reversal
Danielle M. Maatouk et al.
HUMAN MOLECULAR GENETICS (2008)
Proteomic analysis of testis biopsies in men treated with injectable testosterone undecanoate alone or in combination with oral levonorgestrel as potential male contraceptive
Yugui Cui et al.
JOURNAL OF PROTEOME RESEARCH (2008)
β-microseminoprotein in human spermatozoa and its potential role in male fertility
N. Anahi Franchi et al.
REPRODUCTION (2008)
Male-to-female sex reversal associated with an-250 kb deletion upstream of NR0B1 (DAX1)
Marta Smyk et al.
HUMAN GENETICS (2007)
Isolated 46,XY gonadal dysgenesis in two sisters caused by a Xp21.2 interstitial duplication containing the DAX1 gene
Michela Barbaro et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2007)
WNT4 and RSPO1 are not involved in a case of male-to-female sex reversal with partial duplication of 1p
P. Wieacker et al.
SEXUAL DEVELOPMENT (2007)
Misexpression of cyclin B3 leads to aberrant spermatogenesis
Jale Refik-Rogers et al.
CELL CYCLE (2006)
Cooperative interactions of p53 mutation, telomere dysfunction, and chronic liver damage in hepatocellular carcinoma progression
Paraskevi A. Farazi et al.
CANCER RESEARCH (2006)
Sex determination and sex reversal
Giovanna Camerino et al.
CURRENT OPINION IN GENETICS & DEVELOPMENT (2006)
Deletion of the ANKRD15 gene at 9p24.3 causes parent-of-origin-dependent inheritance of familial cerebral palsy
I Lerer et al.
HUMAN MOLECULAR GENETICS (2005)
A heterozygous mutation in the desert hedgehog gene in patients with mixed gonadal dysgenesis
P Canto et al.
MOLECULAR HUMAN REPRODUCTION (2005)
Direct effect of melatonin on Syrian hamster testes: Melatonin subtype 1a receptors, inhibition of androgen production, and interaction with the local corticotropin-releasing hormone system
NB Frungieri et al.
ENDOCRINOLOGY (2005)
Sex chromosomal mosaicism in the gonads of patients with gonadal dysgenesis, but normal female or male karyotypes in lymphocytes
A Röpke et al.
AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY (2004)
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)
A microdeletion in the ligand binding domain of human steroidogenic factor 1 causes XY sex reversal without adrenal insufficiency
RV Correa et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2004)
Mutations in the Desert hedgehog (DHH) gene in patients with 46,XY complete pure gonadal dysgenesis
P Canto et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2004)
Mapping of sudden infant death with dysgenesis of the testes syndrome (SIDDT) by a SNP genome scan and identification of TSPYL loss of function
EG Puffenberger et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2004)
Targeted disruption of the Akap4 gene causes defects in sperm flagellum and motility
K Miki et al.
DEVELOPMENTAL BIOLOGY (2002)
The human sex-determining gene SRY is a direct target of WT1
A Hossain et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2001)
Up-regulation of WNT-4 signaling and dosage-sensitive sex reversal in humans
BK Jordan et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2001)
Genetic evidence to exclude the androgen receptor co-factor, ARA70 (NCOA4) as a candidate gene for the causation of undermasculinised genitalia
HN Lim et al.
CLINICAL GENETICS (2001)
GATA factors differentially activate multiple gonadal promoters through conserved GATA regulatory elements
JJ Tremblay et al.
ENDOCRINOLOGY (2001)
Desert hedgehog (Dhh) gene is required in the mouse testis for formation of adult-type Leydig cells and normal development of peritubular cells and seminiferous tubules
AM Clark et al.
BIOLOGY OF REPRODUCTION (2000)
A novel mutation of desert hedgehog in a patient with 46,XY partial gonadal dysgenesis accompanied by minifascicular neuropathy
F Umehara et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2000)
Dmrt1, a gene related to worm and fly sexual regulators, is required for mammalian testis differentiation
CS Raymond et al.
GENES & DEVELOPMENT (2000)
Binding and phosphorylation of a novel male germ cell-specific cGMP-dependent protein kinase-anchoring protein by cGMP-dependent protein kinase Iα
K Yuasa et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2000)
Sex-determining gene(s) on distal 9p: Clinical and molecular studies in six cases
K Muroya et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2000)
Share Paper
