Detalhe da pesquisa
1.
ANKRD11 variants: KBG syndrome and beyond.
Clin Genet
; 100(2): 187-200, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33955014
2.
Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita.
Hum Mutat
; 40(12): 2270-2285, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31206972
3.
The relevance of ANXA5 genetic variants on male fertility.
J Assist Reprod Genet
; 36(7): 1355-1359, 2019 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-31190166
4.
Prevalence of pathogenic BRCA1/2 germline mutations among 802 women with unilateral triple-negative breast cancer without family cancer history.
BMC Cancer
; 18(1): 265, 2018 03 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29514593
5.
Assessment of M2/ANXA5 haplotype as a risk factor in couples with placenta-mediated pregnancy complications.
J Assist Reprod Genet
; 35(1): 157-163, 2018 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-28900802
6.
Maternal carriers of the ANXA5 M2 haplotype are exposed to a greater risk for placenta-mediated pregnancy complications.
J Assist Reprod Genet
; 35(5): 921-928, 2018 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-29497952
7.
Clinical and genetic aspects of Mayer-Rokitansky-Küster-Hauser syndrome.
Med Genet
; 30(1): 3-11, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29527097
8.
Genetic analysis of the M2/ANXA5 haplotype as recurrent pregnancy loss predisposition in the Malay population.
J Assist Reprod Genet
; 34(4): 517-524, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-28108842
9.
ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity.
Am J Hum Genet
; 92(5): 681-95, 2013 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-23623388
10.
Copy number variation of two separate regulatory regions upstream of SOX9 causes isolated 46,XY or 46,XX disorder of sex development.
J Med Genet
; 52(4): 240-7, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25604083
11.
M2/ANXA5 haplotype as a predisposition factor in Malay women and couples experiencing recurrent spontaneous abortion: a pilot study.
Reprod Biomed Online
; 30(4): 434-9, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25682309
12.
Constitutive promoter methylation of BRCA1 and RAD51C in patients with familial ovarian cancer and early-onset sporadic breast cancer.
Hum Mol Genet
; 21(21): 4669-79, 2012 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22843497
13.
High amount of fertility reducing tumors and procedures, but no evidence for premature ovarian failure in female Lynch syndrome patients.
Fam Cancer
; 2024 Jan 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38280980
14.
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.
Lancet
; 380(9854): 1674-82, 2012 Nov 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-23020937
15.
Hydrocephalus, agenesis of the corpus callosum, and cleft lip/palate represent frequent associations in fetuses with Peters' plus syndrome and B3GALTL mutations. Fetal PPS phenotypes, expanded by Dandy Walker cyst and encephalocele.
Prenat Diagn
; 33(1): 75-80, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23161355
16.
WNT10A mutations are a frequent cause of a broad spectrum of ectodermal dysplasias with sex-biased manifestation pattern in heterozygotes.
Am J Hum Genet
; 85(1): 97-105, 2009 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-19559398
17.
Diagnosis and Therapy of Female Genital Malformations (Part 1). Guideline of the DGGG, OEGGG and SGGG (S2k Level, AWMF Registry Number 015/052, May 2019).
Geburtshilfe Frauenheilkd
; 81(12): 1307-1328, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34899045
18.
Diagnosis and Therapy of Female Genital Malformations (Part 2). Guideline of the DGGG, OEGGG and SGGG (S2k Level, AWMF Registry Number 015/052, May 2019).
Geburtshilfe Frauenheilkd
; 81(12): 1329-1347, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34899046
19.
The impact of CFNS-causing EFNB1 mutations on ephrin-B1 function.
BMC Med Genet
; 11: 98, 2010 Jun 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-20565770
20.
Sequence Variants in TBX6 Are Associated with Disorders of the Müllerian Ducts: An Update.
Sex Dev
; 13(1): 35-40, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30739119