Detalhe da pesquisa
1.
A recurrent KCNK4 variant in a dominant pedigree with hypertrichosis and gingival fibromatosis syndrome: Variable phenotypic expressivity and insights on patients' dental management.
Am J Med Genet A
; 194(1): 39-45, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37750049
2.
Isolated dentinogenesis imperfecta: Novel DSPP variants and insights on genetic counselling.
Clin Oral Investig
; 28(5): 254, 2024 Apr 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-38630328
3.
Bruck syndrome in 13 new patients: Identification of five novel FKBP10 and PLOD2 variants and further expansion of the phenotypic spectrum.
Am J Med Genet A
; 188(6): 1815-1825, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35278031
4.
Deleterious Variants in WNT10A, EDAR, and EDA Causing Isolated and Syndromic Tooth Agenesis: A Structural Perspective from Molecular Dynamics Simulations.
Int J Mol Sci
; 20(21)2019 Oct 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-31652981
5.
Brachyolmia, dental anomalies and short stature (DASS): Phenotype and genotype analyses of Egyptian and Pakistani patients.
Heliyon
; 10(1): e23688, 2024 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38192829
6.
Expanding the Phenotypic Spectrum of APMR4 Syndrome Caused by a Novel Variant in LSS Gene and Review of Literature.
J Mol Neurosci
; 72(11): 2242-2251, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-36251212
7.
Confirmation of a Phenotypic Entity for TSPEAR Variants in Egyptian Ectodermal Dysplasia Patients and Role of Ethnicity.
Genes (Basel)
; 13(6)2022 06 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-35741818
8.
Gene Mutations of the Three Ectodysplasin Pathway Key Players (EDA, EDAR, and EDARADD) Account for More than 60% of Egyptian Ectodermal Dysplasia: A Report of Seven Novel Mutations.
Genes (Basel)
; 12(9)2021 09 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34573371
9.
Oral mucous membrane pemphigoid in a 6-year-old boy: diagnosis, treatment and 4 years follow-up.
Int J Paediatr Dent
; 20(1): 76-9, 2010 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-20059595
10.
Two new families with enamel renal syndrome: A novel FAM20A gene mutation and review of literature.
Eur J Med Genet
; 63(11): 104045, 2020 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-32835847