Detalhe da pesquisa
1.
Structural Modelling of KCNQ1 and KCNH2 Double Mutant Proteins, Identified in Two Severe Long QT Syndrome Cases, Reveals New Insights into Cardiac Channelopathies.
Int J Mol Sci
; 22(23)2021 Nov 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-34884666
2.
DHH pathogenic variants involved in 46,XY disorders of sex development differentially impact protein self-cleavage and structural conformation.
Hum Genet
; 139(11): 1455-1470, 2020 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-32504121
3.
Exploring the Molecular Aetiology of Preeclampsia by Massive Parallel Sequencing of DNA.
Curr Hypertens Rep
; 22(4): 31, 2020 03 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-32172383
4.
Functional evidence implicating NOTCH2 missense mutations in primary ovarian insufficiency etiology.
Hum Mutat
; 40(1): 25-30, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30304577
5.
The forkhead-box family of transcription factors: key molecular players in colorectal cancer pathogenesis.
Mol Cancer
; 18(1): 5, 2019 01 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30621735
6.
A homozygous donor splice-site mutation in the meiotic gene MSH4 causes primary ovarian insufficiency.
Hum Mol Genet
; 26(16): 3161-3166, 2017 08 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28541421
7.
Mutant GNLY is linked to Stevens-Johnson syndrome and toxic epidermal necrolysis.
Hum Genet
; 138(11-12): 1267-1274, 2019 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-31642954
8.
FOXD1 mutations are related to repeated implantation failure, intra-uterine growth restriction and preeclampsia.
Mol Med
; 25(1): 37, 2019 08 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31395028
9.
ATG7 and ATG9A loss-of-function variants trigger autophagy impairment and ovarian failure.
Genet Med
; 21(4): 930-938, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30224786
10.
Transcriptomic analysis of FUCA1 knock-down in keratinocytes reveals new insights into the pathogenesis of fucosidosis skin lesions.
Exp Dermatol
; 27(6): 663-667, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29518279
11.
New mutations in non-syndromic primary ovarian insufficiency patients identified via whole-exome sequencing.
Hum Reprod
; 32(7): 1512-1520, 2017 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28505269
12.
THBD sequence variants potentially related to recurrent pregnancy loss.
Reprod Biol Endocrinol
; 15(1): 92, 2017 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29195508
13.
Success stories in genomic medicine from resource-limited countries.
Hum Genomics
; 9: 11, 2015 Jun 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-26081768
14.
Polymorphisms of human placental alkaline phosphatase are associated with in vitro fertilization success and recurrent pregnancy loss.
Am J Pathol
; 184(2): 362-8, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24296104
15.
A high resolution map of mammalian X chromosome fragile regions assessed by large-scale comparative genomics.
Mamm Genome
; 25(11-12): 618-35, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25086724
16.
BMP15 c.-9C>G promoter sequence variant may contribute to the cause of non-syndromic premature ovarian failure.
Reprod Biomed Online
; 29(5): 627-33, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25246117
17.
Linking genotype to trophoblast phenotype in preeclampsia and HELLP syndrome associated with STOX1 genetic variants.
iScience
; 27(3): 109260, 2024 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38439971
18.
A novel mutation in KHDRBS1 in a patient affected by primary ovarian insufficiency.
Clin Endocrinol (Oxf)
; 89(2): 245-246, 2018 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-29808484
19.
Sequence analysis of the ADRA2A coding region in children affected by attention deficit hyperactivity disorder.
Neurol Sci
; 34(12): 2219-22, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24178896
20.
Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis.
Hum Mutat
; 33(8): 1175-81, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22553128