Detalhe da pesquisa
1.
Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX Children.
Am J Hum Genet
; 102(3): 487-493, 2018 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29478779
2.
SRY-negative 46,XX testicular/ovotesticular DSD: Long-term outcomes and early blockade of gonadotropic axis.
Clin Endocrinol (Oxf)
; 94(4): 667-676, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33296530
3.
Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies.
Hum Mol Genet
; 27(7): 1228-1240, 2018 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29373757
4.
Refining the regulatory region upstream of SOX9 associated with 46,XX testicular disorders of Sex Development (DSD).
Am J Med Genet A
; 167A(8): 1851-8, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25900885
5.
Nuclear volume differences between balanced and unbalanced spermatozoa in chromosomal translocation carriers.
Reprod Biomed Online
; 30(3): 290-5, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25599825
6.
Discontinuous gradient centrifugation (DGC) decreases the proportion of chromosomally unbalanced spermatozoa in chromosomal rearrangement carriers.
Hum Reprod
; 28(7): 2003-9, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23633550
7.
Simultaneous cell by cell study of both DNA fragmentation and chromosomal segregation in spermatozoa from chromosomal rearrangement carriers.
J Assist Reprod Genet
; 30(3): 383-90, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23288665
8.
A Novel 3q29 Deletion in Association With Developmental Delay and Heart Malformation-Case Report With Literature Review.
Front Pediatr
; 7: 270, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31338352
9.
Should 45,X/46,XY boys with no or mild anomaly of external genitalia be investigated and followed up?
Eur J Endocrinol
; 179(3): 181-190, 2018 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-29973376
10.
[Usefulness of CGH-array and SNP-array for the etiological diagnosis of premature ovarian insufficiency]. / Apport de l'analyse chromosomique sur puce à ADN (ACPA) dans le diagnostic étiologique de l'insuffisance ovarienne prématurée.
Biol Aujourdhui
; 211(3): 199-205, 2017.
Artigo
em Francês
| MEDLINE | ID: mdl-29412129
11.
Recurrent Intragenic Duplication within the NR5A1 Gene and Severe Proximal Hypospadias.
Sex Dev
; 11(5-6): 293-297, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-29332064
12.
Xp21 deletion in female patients with intellectual disability: Two new cases and a review of the literature.
Eur J Med Genet
; 58(6-7): 341-5, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25917374
13.
Are human male patients with DAX1/NR0B1 mutations infertile?
Ann Endocrinol (Paris)
; 75(2): 126-7, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24751136
14.
First Birth after Sperm Selection through Discontinuous Gradient Centrifugation and Artificial Insemination from a Chromosomal Translocation Carrier.
Case Rep Genet
; 2014: 906145, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24587925
15.
Familial Turner syndrome with an X;Y translocation mosaicism: implications for genetic counseling.
Eur J Med Genet
; 55(11): 635-40, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22809487
16.
A new 17p13.3 microduplication including the PAFAH1B1 and YWHAE genes resulting from an unbalanced X;17 translocation.
Eur J Med Genet
; 54(3): 287-91, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21195811
17.
Sperm fluorescence in situ hybridization study in nine men carrying a Robertsonian or a reciprocal translocation: relationship between segregation modes and high-magnification sperm morphology examination.
Fertil Steril
; 96(4): 826-32, 2011 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-21871621
18.
Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11.
Eur J Hum Genet
; 19(9): 959-64, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21522184