Detalhe da pesquisa
1.
Rare Genetic Variants in Human APC Are Implicated in Mesiodens and Isolated Supernumerary Teeth.
Int J Mol Sci
; 24(5)2023 Feb 21.
Artigo
Inglês
| MEDLINE | ID: mdl-36901686
2.
LRP4 mutations, dental anomalies, and oral exostoses.
Int J Paediatr Dent
; 2023 Nov 27.
Artigo
Inglês
| MEDLINE | ID: mdl-38013205
3.
Cryptophthalmos, dental anomalies, oral vestibule defect, and a novel FREM2 mutation.
J Hum Genet
; 67(2): 115-118, 2022 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-34408272
4.
Expanding genotypic and phenotypic spectrums of LTBP3 variants in dental anomalies and short stature syndrome.
Clin Genet
; 102(1): 66-71, 2022 07.
Artigo
Inglês
| MEDLINE | ID: mdl-35352826
5.
Harboyan syndrome: novel SLC4A11 mutation, clinical manifestations, and outcome of corneal transplantation.
J Hum Genet
; 66(2): 193-203, 2021 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-32884076
6.
Juberg-Hayward syndrome is a cohesinopathy, caused by mutation in ESCO2.
Eur J Orthod
; 43(1): 45-50, 2021 01 29.
Artigo
Inglês
| MEDLINE | ID: mdl-32255174
7.
Treacher Collins syndrome: A novel TCOF1 mutation and monopodial stapes.
Clin Otolaryngol
; 45(5): 695-702, 2020 09.
Artigo
Inglês
| MEDLINE | ID: mdl-32351010
8.
WNT1-associated osteogenesis imperfecta with atrophic frontal lobes and arachnoid cysts.
J Hum Genet
; 64(4): 291-296, 2019 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-30692598
9.
ADAMTSL1 and mandibular prognathism.
Clin Genet
; 95(4): 507-515, 2019 04.
Artigo
Inglês
| MEDLINE | ID: mdl-30714143
10.
Osteogenesis imperfecta with ectopic mineralizations in dentin and cementum and a COL1A2 mutation.
J Hum Genet
; 63(7): 811-820, 2018 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-29636545
11.
Human Leukocyte Antigen Markers for Distinguishing Pustular Psoriasis and Adult-Onset Immunodeficiency with Pustular Reaction.
Genes (Basel)
; 15(3)2024 02 23.
Artigo
Inglês
| MEDLINE | ID: mdl-38540337
12.
Isolated dentinogenesis imperfecta with glass-like enamel caused by COL1A2 mutation.
Am J Med Genet A
; 176(12): 2919-2923, 2018 12.
Artigo
Inglês
| MEDLINE | ID: mdl-30152103
13.
Novel Dental Anomaly-associated Mutations in WNT10A Protein Binding Sites.
Int Dent J
; 73(1): 79-86, 2023 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-35537890
14.
A Founder Intronic Variant in P3H1 Likely Results in Aberrant Splicing and Protein Truncation in Patients of Karen Descent with Osteogenesis Imperfecta Type VIII.
Genes (Basel)
; 14(2)2023 01 26.
Artigo
Inglês
| MEDLINE | ID: mdl-36833249
15.
Subtotal Parathyroidectomy Successfully Controls Calcium Levels of Patients with Neonatal Severe Hyperparathyroidism Carrying a Novel CASR Mutation.
Horm Res Paediatr
; 96(4): 432-438, 2023.
Artigo
Inglês
| MEDLINE | ID: mdl-36626889
16.
A Mutation in CACNA1S Is Associated with Multiple Supernumerary Cusps and Root Maldevelopment.
Diagnostics (Basel)
; 13(5)2023 Feb 27.
Artigo
Inglês
| MEDLINE | ID: mdl-36900039
17.
SERPINB3, Adult-Onset Immunodeficiency, and Generalized Pustular Psoriasis.
Genes (Basel)
; 14(2)2023 01 19.
Artigo
Inglês
| MEDLINE | ID: mdl-36833193
18.
Genetic Variants in Protein Tyrosine Phosphatase Non-Receptor Type 23 Are Responsible for Mesiodens Formation.
Biology (Basel)
; 12(3)2023 Mar 01.
Artigo
Inglês
| MEDLINE | ID: mdl-36979085
19.
Heterozygous Variants in FREM2 Are Associated with Mesiodens, Supernumerary Teeth, Oral Exostoses, and Odontomas.
Diagnostics (Basel)
; 13(7)2023 Mar 23.
Artigo
Inglês
| MEDLINE | ID: mdl-37046432
20.
Distal renal tubular acidosis, autoimmune thyroiditis, enamel hypomaturation, and tooth agenesis caused by homozygosity of a novel double-nucleotide substitution in SLC4A4.
J Am Dent Assoc
; 153(7): 668-676, 2022 07.
Artigo
Inglês
| MEDLINE | ID: mdl-35260236