1 |
Mutations in the FOG2/ZFPM2 gene are associated with anomalies of human testis determination.
6
|
Bashamboo A...McElreavey K
|
24549039 |
2014 |
2 |
New mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricle.
6
|
De Luca A...Dallapiccola B
|
20807224 |
2011 |
3 |
Loss-of-function mutation in GATA4 causes anomalies of human testicular development.
6
|
Lourenco D...Bashamboo A
|
21220346 |
2011 |
4 |
Novel mutation in FTHL17 gene in pedigree with 46,XY pure gonadal dysgenesis.
61
|
Tang R...Chen R
|
30922653 |
2019 |
5 |
Postchemotherapy sarcoma as a somatic-type malignancy derived from the gonadal yolk sac tumor in a patient with 46, XY pure gonadal dysgenesis.
61
|
Zong X...Guo LN
|
30992672 |
2019 |
6 |
Incidence and diagnoses of disorders of sex development in proximal hypospadias.
61
|
Wong YS...Yau HC
|
30224237 |
2018 |
7 |
Long-term outcomes and molecular analysis of a large cohort of patients with 46,XY disorder of sex development due to partial gonadal dysgenesis.
61
|
Gomes NL...Mendonca BB
|
29668062 |
2018 |
8 |
Gonadal tumour risk in 292 phenotypic female patients with disorders of sex development containing Y chromosome or Y-derived sequence.
61
|
Huang H...Tian Q
|
27862157 |
2017 |
9 |
408 Cases of Genital Ambiguity Followed by Single Multidisciplinary Team during 23 Years: Etiologic Diagnosis and Sex of Rearing.
61
|
De Paula GB...Guerra-Junior G
|
28018429 |
2016 |
10 |
NR5A1 Loss-of-Function Mutations Lead to 46,XY Partial Gonadal Dysgenesis Phenotype: Report of Three Novel Mutations.
61
|
Fabbri HC...de Mello MP
|
27463801 |
2016 |
11 |
Long-Term Follow-Up of Patients with 46,XY Partial Gonadal Dysgenesis Reared as Males.
61
|
Gabriel Ribeiro de Andrade J...Maciel-Guerra AT
|
25580123 |
2014 |
12 |
Screening of Y chromosome microdeletions in 46,XY partial gonadal dysgenesis and in patients with a 45,X/46,XY karyotype or its variants.
61
|
dos Santos AP...Maciel-Guerra AT
|
24192396 |
2013 |
13 |
In vitro and molecular modeling analysis of two mutant desert hedgehog proteins associated with 46,XY gonadal dysgenesis.
61
|
Castro JJ...Canto P
|
23786321 |
2013 |
14 |
The clinical and genetic heterogeneity of mixed gonadal dysgenesis: does "disorders of sexual development (DSD)" classification based on new Chicago consensus cover all sex chromosome DSD?
61
|
Ocal G...Fitoz S
|
22644991 |
2012 |
15 |
Dysgerminoma and gonadal dysgenesis: the need for a new diagnosis tree for suspected ovarian tumours.
61
|
Capito C...Heloury Y
|
21402494 |
2011 |
16 |
46,XY pure gonadal dysgenesis: clinical presentations and management of the tumor risk.
61
|
Capito C...Heloury Y
|
20153258 |
2011 |
17 |
Novel DMRT1 3'UTR+11insT mutation associated to XY partial gonadal dysgenesis.
61
|
Mello MP...Guerra-Junior G
|
21340164 |
2010 |
18 |
[Sex of rearing in 46,XY partial gonadal dysgenesis (case report)].
61
|
Iraqi N...Bouhafs MA
|
20097326 |
2010 |
19 |
Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency.
61
|
Kohler B...Achermann JC
|
17694559 |
2008 |
20 |
Association of deletion 9p, 46,XY gonadal dysgenesis and autistic spectrum disorder.
61
|
Vinci G...McElreavey K
|
17644778 |
2007 |
21 |
Mutations in the desert hedgehog (DHH) gene in patients with 46,XY complete pure gonadal dysgenesis.
61
|
Canto P...Mendez JP
|
15356051 |
2004 |
22 |
Early prenatal diagnosis of recurrent 46,XY partial gonadal dysgenesis.
61
|
Mazza V...Forabosco A
|
12975780 |
2003 |
23 |
Management of 46, XY partial gonadal dysgenesis--revisited.
61
|
Crone J...Fekete CN
|
12422582 |
2002 |
24 |
Minifascicular neuropathy: a new concept of the human disease caused by desert hedgehog gene mutation.
61
|
Umehara F...Osame M
|
11990454 |
2002 |
25 |
A novel mutation of desert hedgehog in a patient with 46,XY partial gonadal dysgenesis accompanied by minifascicular neuropathy.
61
|
Umehara F...Osame M
|
11017805 |
2000 |
26 |
Swyer syndrome and 46,XY partial gonadal dysgenesis associated with 9p deletions in the absence of monosomy-9p syndrome.
61
|
Veitia RA...Lavinha J
|
9718353 |
1998 |
27 |
Abnormalities of gonadal differentiation.
61
|
Berkovitz GD...Seeherunvong T
|
9890065 |
1998 |
28 |
Linkage analysis of a kindred with inherited 46,XY partial gonadal dysgenesis.
61
|
Fuqua JS...Berkovitz GD
|
8954063 |
1996 |
29 |
Loss of sequences 3' to the testis-determining gene, SRY, including the Y pseudoautosomal boundary associated with partial testicular determination.
61
|
McElreavey K...Berkovitz GD
|
8710915 |
1996 |
30 |
Report of a kindred with X-linked (or autosomal dominant sex-limited) 46,XY partial gonadal dysgenesis.
61
|
Fechner PY...Berkovitz GD
|
8496317 |
1993 |
31 |
Clinical and pathologic spectrum of 46,XY gonadal dysgenesis: its relevance to the understanding of sex differentiation.
61
|
Berkovitz GD...Perlman EJ
|
1956279 |
1991 |