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.
Individualized digitally designed surgical template for guided soft tissue surgery in cases with severe gingival enlargement: A clinical application in hereditary gingival fibromatosis.
Int J Comput Dent
; 27(1): 99-107, 2024 Mar 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-38530272
3.
Patients with KCNH1-related intellectual disability without distinctive features of Zimmermann-Laband/Temple-Baraitser syndrome.
J Med Genet
; 59(5): 505-510, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33811134
4.
Zimmermann-Laband syndrome and infantile systemic hyalinosis: an enigma with two separate terms with overlapping features: a case report.
BMC Pediatr
; 23(1): 506, 2023 10 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-37828451
5.
Genetic architecture and phenotypic landscape of deafness and onychodystrophy syndromes.
Hum Genet
; 141(3-4): 821-838, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-34232384
6.
Gain-of-Function Mutations in KCNN3 Encoding the Small-Conductance Ca2+-Activated K+ Channel SK3 Cause Zimmermann-Laband Syndrome.
Am J Hum Genet
; 104(6): 1139-1157, 2019 06 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31155282
7.
Zimmermann-Laband syndrome in monozygotic twins with a mild neurobehavioral phenotype lacking gingival overgrowth-A case report of a novel KCNN3 gene variant.
Am J Med Genet A
; 188(4): 1083-1087, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34907639
8.
Modified gingivoplasty for hereditary gingival fibromatosis: two case reports.
BMC Oral Health
; 22(1): 523, 2022 11 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-36424563
9.
A 15-year Follow-Up of a Gingivectomy Procedure for Idiopathic Gingival Fibromatosis: A Case Report and Literature Review.
J Clin Pediatr Dent
; 46(2): 119-124, 2022 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35533227
10.
Activated KCNQ1 channel promotes fibrogenic response in hereditary gingival fibromatosis via clustering and activation of Ras.
J Periodontal Res
; 56(3): 471-481, 2021 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-33381870
11.
Syndromes with gingival fibromatosis: A systematic review.
Oral Dis
; 27(4): 881-893, 2021 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-32335995
12.
Hereditary gingival fibromatosis in children: a systematic review of the literature.
Clin Oral Investig
; 25(6): 3599-3607, 2021 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-33188467
13.
Seven-year follow-up of a patient with hereditary gingival fibromatosis treated with a multidisciplinary approach: case report.
BMC Oral Health
; 21(1): 473, 2021 09 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-34565352
14.
Hyaline fibromatosis syndrome: a case presenting with gingival enlargement as the only clinical manifestation and a report of two new mutations in the ANTXR2 gene.
BMC Oral Health
; 21(1): 508, 2021 10 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34627224
15.
REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis.
Am J Hum Genet
; 101(1): 149-156, 2017 Jul 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28686854
16.
A Rare Case of non Syndromic Congenital Idiopathic Gingival Fibromatosis: Electrosurgical Management.
J Clin Pediatr Dent
; 44(5): 352-355, 2020 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33181851
17.
Fibroblasts from recurrent fibrotic overgrowths reveal high rate of proliferation in vitro - findings from the study of hereditary and idiopathic gingival fibromatosis.
Connect Tissue Res
; 60(1): 29-39, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30231645
18.
Exomic and transcriptomic alterations of hereditary gingival fibromatosis.
Oral Dis
; 25(5): 1374-1383, 2019 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-30907493
19.
Homozygous mutation in ELMO2 may cause Ramon syndrome.
Clin Genet
; 93(3): 703-706, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29095483
20.
Association of 17q24.2-q24.3 deletions with recognizable phenotype and short telomeres.
Am J Med Genet A
; 176(6): 1438-1442, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29696806