Detalhe da pesquisa
1.
Rare structural variants, aneuploidies, and mosaicism in individuals with Mullerian aplasia detected by optical genome mapping.
Hum Genet
; 142(4): 483-494, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-36797380
2.
Endogenous estradiol contributes to vascular endothelial dysfunction in premenopausal women with type 1 diabetes.
Cardiovasc Diabetol
; 22(1): 243, 2023 09 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37679748
3.
Genetics of agenesis/hypoplasia of the uterus and vagina: narrowing down the number of candidate genes for Mayer-Rokitansky-Küster-Hauser Syndrome.
Hum Genet
; 140(4): 667-680, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-33469725
4.
Unexplained Female Infertility Associated with Genetic Disease Variants.
N Engl J Med
; 388(11): 1055-1056, 2023 Mar 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-36920765
5.
Twenty-year follow-up of the facial phenotype of Brazilian patients with Sotos syndrome.
Am J Med Genet A
; 185(12): 3916-3923, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34405946
6.
WDR11-mediated Hedgehog signalling defects underlie a new ciliopathy related to Kallmann syndrome.
EMBO Rep
; 19(2): 269-289, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29263200
7.
An atypical 12q24.31 microdeletion implicates six genes including a histone demethylase KDM2B and a histone methyltransferase SETD1B in syndromic intellectual disability.
Hum Genet
; 135(7): 757-71, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27106595
8.
Delayed puberty and estrogen resistance in a woman with estrogen receptor α variant.
N Engl J Med
; 369(2): 164-71, 2013 Jul 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-23841731
9.
A microdeletion at Xq22.2 implicates a glycine receptor GLRA4 involved in intellectual disability, behavioral problems and craniofacial anomalies.
BMC Neurol
; 16: 132, 2016 Aug 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27506666
10.
Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders.
Hum Mol Genet
; 22(9): 1816-25, 2013 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23376982
11.
Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies.
Am J Hum Genet
; 91(1): 56-72, 2012 Jul 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-22770980
12.
Novel MED12 gene somatic mutations in women from the Southern United States with symptomatic uterine fibroids.
Mol Genet Genomics
; 290(2): 505-11, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25325994
13.
A microdeletion encompassing PHF21A in an individual with global developmental delay and craniofacial anomalies.
Am J Med Genet A
; 167A(12): 3011-8, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26333423
14.
The historical Coffin-Lowry syndrome family revisited: identification of two novel mutations of RPS6KA3 in three male patients.
Am J Med Genet A
; 164A(9): 2172-9, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25044551
15.
Prevalence of pathogenic variants and digenic disease in patients diagnosed with normosmic hypogonadotropic hypogonadism/Kallmann Syndrome.
Mol Cell Endocrinol
; 589: 112224, 2024 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38593951
16.
Heterozygous ZNHIT3 variants within the 17q12 recurrent deletion region are associated with Mayer-Rokitansky-Kuster Hauser (MRKH) syndrome.
Mol Cell Endocrinol
; 589: 112237, 2024 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38599276
17.
WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.
Am J Hum Genet
; 87(4): 465-79, 2010 Oct 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-20887964
18.
Investigation of subfertility in the female Nsmf knockout mouse.
F S Sci
; 4(4): 286-293, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37516276
19.
Coordination of canonical and noncanonical Hedgehog signalling pathways mediated by WDR11 during primordial germ cell development.
Sci Rep
; 13(1): 12309, 2023 07 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-37516749
20.
Identification of two novel autism genes, TRPC4 and SCFD2, in Qatar simplex families through exome sequencing.
Front Psychiatry
; 14: 1251884, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38025430