| 1 |
New genomic technologies: an aid for diagnosis of disorders of sex development.
4
|
Barseghyan H...Vilain E
|
25970709
|
2015 |
| 2 |
Exome sequencing for the diagnosis of 46,XY disorders of sex development.
4
|
Baxter RM...Vilain E
|
25383892
|
2015 |
| 3 |
Disorders of sex development (DSDs): an update.
4
|
Ostrer H
|
24758178
|
2014 |
| 4 |
9p partial monosomy and disorders of sex development: review and postulation of a pathogenetic mechanism.
4
|
Quinonez SC...Keegan CE
|
23824832
|
2013 |
| 5 |
Steroidogenic factor-1 and human disease.
4
|
El-Khairi R...Achermann JC
|
23044873
|
2012 |
| 6 |
Multigeneration Inheritance through Fertile XX Carriers of an NR0B1 (DAX1) Locus Duplication in a Kindred of Females with Isolated XY Gonadal Dysgenesis.
4
|
Barbaro M...Wedell A
|
22518125
|
2012 |
| 7 |
Copy number variation in patients with disorders of sex development due to 46,XY gonadal dysgenesis.
4
|
White S...Sinclair A
|
21408189
|
2011 |
| 8 |
Array-CGH analysis in patients with syndromic and non-syndromic XY gonadal dysgenesis: evaluation of array CGH as diagnostic tool and search for new candidate loci.
4
|
Ledig S...Wieacker P
|
20685758
|
2010 |
| 9 |
Identification of de novo copy number variants associated with human disorders of sexual development.
4
|
Tannour-Louet M...Lamb DJ
|
21048976
|
2010 |
| 10 |
Steroidogenic factor-1 (SF-1) gene mutation as a frequent cause of primary amenorrhea in 46,XY female adolescents with low testosterone concentration.
4
|
Philibert P...Sultan C
|
20302644
|
2010 |
| 11 |
Consensus in Guidelines for Evaluation of DSD by the Texas Children's Hospital Multidisciplinary Gender Medicine Team.
4
|
Douglas G...Sutton VR
|
20981291
|
2010 |
| 12 |
Ovaries and female phenotype in a girl with 46,XY karyotype and mutations in the CBX2 gene.
4
|
Biason-Lauber A...Schoenle EJ
|
19361780
|
2009 |
| 13 |
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.
4
|
Barbaro M...Oscarson M
|
18384427
|
2008 |
| 14 |
Isolated 46,XY gonadal dysgenesis in two sisters caused by a Xp21.2 interstitial duplication containing the DAX1 gene.
4
|
Barbaro M...Wedell A
|
17504899
|
2007 |
| 15 |
A Gender Assessment Team: experience with 250 patients over a period of 25 years.
4
|
Parisi MA...Pagon RA
|
17575501
|
2007 |
| 16 |
Summary of consensus statement on intersex disorders and their management. International Intersex Consensus Conference.
4
|
Houk CP...Writing Committee for the International Intersex Consensus Conference Participants
|
16882833
|
2006 |
| 17 |
Mutations in the desert hedgehog (DHH) gene in patients with 46,XY complete pure gonadal dysgenesis.
4
|
Canto P...Mendez JP
|
15356051
|
2004 |
| 18 |
Gonadal determination and adrenal development are regulated by the orphan nuclear receptor steroidogenic factor-1, in a dose-dependent manner.
4
|
Achermann JC...Jameson JL
|
11932325
|
2002 |
| 19 |
A novel mutation of desert hedgehog in a patient with 46,XY partial gonadal dysgenesis accompanied by minifascicular neuropathy.
4
|
Umehara F...Osame M
|
11017805
|
2000 |
| 20 |
Clinical review 111: familial sex reversal: a review.
4
|
Sarafoglou K...Ostrer H
|
10690846
|
2000 |
| 21 |
A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans.
4
|
Achermann JC...Jameson JL
|
10369247
|
1999 |
| 22 |
Mutations and sequence variants in the testis-determining region of the Y chromosome in individuals with a 46,XY female phenotype.
4
|
Veitia R...McElreavey K
|
9150734
|
1997 |
| 23 |
Mutations in SRY and SOX9: testis-determining genes.
4
|
Cameron FJ...Sinclair AH
|
9143916
|
1997 |
| 24 |
Evidence for increased prevalence of SRY mutations in XY females with complete rather than partial gonadal dysgenesis.
4
|
Hawkins JR...Berkovitz GD
|
1415266
|
1992 |
| 25 |
Nonsyndromic Disorders of Testicular Development
38
|
Mohnach L...Keegan CE
|
20301714
|
2008 |
