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Rare Genetic Variants in Human APC Are Implicated in Mesiodens and Isolated Supernumerary Teeth.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 5, p. 4255, doi. 10.3390/ijms24054255
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- Article
BCOR mutations and unstoppable root growth: a commentary on oculofaciocardiodental syndrome: novel BCOR mutations and expression in dental cells.
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- Journal of Human Genetics, 2014, v. 59, n. 6, p. 297, doi. 10.1038/jhg.2014.31
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- Article
The gene for mesomelic dysplasia Kantaputra type is mapped to chromosome 2q24-q32.
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- Journal of Human Genetics, 1998, v. 43, n. 1, p. 32, doi. 10.1007/s100380050033
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Oral manifestations in patients and dogs with mucopolysaccharidosis Type VII.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 3, p. 486, doi. 10.1002/ajmg.a.61034
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- Article
Isolated dentinogenesis imperfecta with glass‐like enamel caused by COL1A2 mutation.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2919, doi. 10.1002/ajmg.a.40501
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- Article
Making extra teeth: Lessons from a TRPS1 mutation.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 99, doi. 10.1002/ajmg.a.37967
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Syndromes with supernumerary teeth.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 10, p. 2611, doi. 10.1002/ajmg.a.37763
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Preaxial Polydactyly Associated with a MSX1 Mutation and Report of Two Novel Mutations.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 254, doi. 10.1002/ajmg.a.37417
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- Article
All Enamel Is not Created Equal: Supports From a Novel FAM83H Mutation.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 273, doi. 10.1002/ajmg.a.37406
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Cutis laxa with pulmonary emphysema, conjunctivochalasis, nasolacrimal duct obstruction, abnormal hair, and a novel FBLN5 mutation.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 9, p. 2370, doi. 10.1002/ajmg.a.36630
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- Article
Enamel-Renal-Gingival syndrome, hypodontia, and a novel FAM20A mutation.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 8, p. 2124, doi. 10.1002/ajmg.a.36579
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- Article
Clinical manifestations of 17 patients affected with mucopolysaccharidosis type VI and eight novel ARSB mutations.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. 1443, doi. 10.1002/ajmg.a.36489
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- Article
Enamel-renal-gingival syndrome and FAM20A mutations.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 1, p. 1, doi. 10.1002/ajmg.a.36187
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- Article
A novel mutation in CDKN1C in sibs with Beckwith-Wiedemann syndrome and cleft palate, sensorineural hearing loss, and supernumerary flexion creases.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 1, p. 192, doi. 10.1002/ajmg.a.35663
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- Article
Dyschromatosis symmetrica hereditaria with long hair on the forearms, hypo/hyperpigmented hair, and dental anomalies: Report of a novel ADAR1 mutation.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2258, doi. 10.1002/ajmg.a.35488
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Multiple supernumerary molars, anterior openbite, and large ear lobules in mucopolysaccharidosis type VI patient.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 7, p. 1798, doi. 10.1002/ajmg.a.35420
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Severe plexiform facial neurofibromatosis, type 1 with underdeveloped eyes and a novel NF1 mutation.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 7, p. 1750, doi. 10.1002/ajmg.a.35422
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- Article
Long-term survival in infantile malignant autosomal recessive osteopetrosis secondary to homozygous p.Arg526Gln mutation in CLCN7.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 909, doi. 10.1002/ajmg.a.35264
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Split hand-split foot-ectodermal dysplasia and amelogenesis imperfecta with a TP63 mutation.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 1, p. 188, doi. 10.1002/ajmg.a.34356
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- Article
LRP4 mutations, dental anomalies, and oral exostoses.
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- International Journal of Paediatric Dentistry, 2024, v. 34, n. 4, p. 432, doi. 10.1111/ipd.13141
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- Article
TBX22 Mutation Associated With Cleft Lip/Palate, Hypodontia, and Limb Anomaly.
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- Cleft Palate Craniofacial Journal, 2012, v. 49, n. 2, p. 240, doi. 10.1597/10-208
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- Article
Clinical Spectrum and Tumour Risk Analysis in Patients with Beckwith-Wiedemann Syndrome Due to CDKN1C Pathogenic Variants.
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- Cancers, 2022, v. 14, n. 15, p. 3807, doi. 10.3390/cancers14153807
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- Article
Mesomelic dysplasia Kantaputra type is associated with duplications of the HOXD locus on chromosome 2q.
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- European Journal of Human Genetics, 2010, v. 18, n. 12, p. 1310, doi. 10.1038/ejhg.2010.116
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- Article
WNT10A variant and severe scoliosis?
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- Journal of Dermatology, 2022, v. 49, n. 5, p. e183, doi. 10.1111/1346-8138.16313
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- Article
SERPINA1, generalized pustular psoriasis, and adult‐onset immunodeficiency.
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- Journal of Dermatology, 2021, v. 48, n. 10, p. 1597, doi. 10.1111/1346-8138.16081
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A truncating variant in SERPINA3, skin pustules and adult‐onset immunodeficiency.
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- Journal of Dermatology, 2021, v. 48, n. 8, p. e370, doi. 10.1111/1346-8138.15942
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Broad spectrum of anomalies including quadricuspid aortic valve associated with a novel frameshift SALL4 variant.
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- Clinical Genetics, 2023, v. 104, n. 1, p. 133, doi. 10.1111/cge.14307
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- Article
DKK1 is a strong candidate for mesiodens and taurodontism.
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- Clinical Genetics, 2023, v. 103, n. 6, p. 714, doi. 10.1111/cge.14295
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- Article
Mutations in LRP5 and BMP4 are associated with mesiodens, tooth agenesis, root malformation, and oral exostoses.
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- Clinical Genetics, 2022, v. 102, n. 4, p. 333, doi. 10.1111/cge.14183
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Expanding genotypic and phenotypic spectrums of LTBP3 variants in dental anomalies and short stature syndrome.
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- Clinical Genetics, 2022, v. 102, n. 1, p. 66, doi. 10.1111/cge.14134
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ADAMTSL1 and mandibular prognathism.
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- Clinical Genetics, 2019, v. 95, n. 4, p. 507, doi. 10.1111/cge.13519
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- Article
Genetic regulatory pathways of split‐hand/foot malformation.
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- Clinical Genetics, 2019, v. 95, n. 1, p. 132, doi. 10.1111/cge.13434
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- Article
Oral manifestations of 17 patients affected with mucopolysaccharidosis type VI.
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- Journal of Inherited Metabolic Disease, 2014, v. 37, n. 2, p. 263, doi. 10.1007/s10545-013-9645-8
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- Article
Genetic Variants in Protein Tyrosine Phosphatase Non-Receptor Type 23 Are Responsible for Mesiodens Formation.
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- Biology (2079-7737), 2023, v. 12, n. 3, p. 393, doi. 10.3390/biology12030393
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- Article
Rare Variants in LRP4 Are Associated with Mesiodens, Root Maldevelopment, and Oral Exostoses in Humans.
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- Biology (2079-7737), 2023, v. 12, n. 2, p. 220, doi. 10.3390/biology12020220
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- Article
Subtotal Parathyroidectomy Successfully Controls Calcium Levels of Patients with Neonatal Severe Hyperparathyroidism Carrying a Novel CASR Mutation.
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- Hormone Research in Paediatrics, 2023, v. 96, n. 4, p. 432, doi. 10.1159/000528568
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- Article
TRPS1 mutation associated with trichorhinophalangeal syndrome type 1 with 15 supernumerary teeth, hypoplastic mandibular condyles with slender condylar necks and unique hair morphology.
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- Journal of Dermatology, 2020, v. 47, n. 7, p. 774, doi. 10.1111/1346-8138.15360
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- Article
Clouston syndrome with pili canaliculi, pili torti, overgrown hyponychium, onycholysis, taurodontism and absence of palmoplantar keratoderma.
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- Journal of Dermatology, 2020, v. 47, n. 6, p. e230, doi. 10.1111/1346-8138.15333
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- Article
Clouston syndrome with dental anomalies, micropores of hair shafts and absence of palmoplantar keratoderma.
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- Journal of Dermatology, 2020, v. 47, n. 3, p. e90, doi. 10.1111/1346-8138.15236
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- Article
Heterozygous Variants in FREM2 Are Associated with Mesiodens, Supernumerary Teeth, Oral Exostoses, and Odontomas.
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- Diagnostics (2075-4418), 2023, v. 13, n. 7, p. 1214, doi. 10.3390/diagnostics13071214
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- Article
A Mutation in CACNA1S Is Associated with Multiple Supernumerary Cusps and Root Maldevelopment.
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- Diagnostics (2075-4418), 2023, v. 13, n. 5, p. 895, doi. 10.3390/diagnostics13050895
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- Article
Mutation in SAM domain of TP63 is associated with nonsyndromic cleft lip and palate and cleft palate.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1432, doi. 10.1002/ajmg.a.34011
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- Article
WNT10A and isolated hypodontia.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 5, p. 1119, doi. 10.1002/ajmg.a.33840
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- Article
The smallest teeth in the world are caused by mutations in the PCNT gene.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1398, doi. 10.1002/ajmg.a.33984
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- Article
Phenotypic analysis of Arg227 mutations of TP63 with emphasis on dental phenotype and micturition difficulties in EEC syndrome.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 1, p. 228, doi. 10.1002/ajmg.a.33768
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- Article
Treacher Collins syndrome: A novel TCOF1 mutation and monopodial stapes.
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- Clinical Otolaryngology, 2020, v. 45, n. 5, p. 695, doi. 10.1111/coa.13560
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- Article
Distal renal tubular acidosis, autoimmune thyroiditis, enamel hypomaturation, and tooth agenesis caused by homozygosity of a novel double-nucleotide substitution in SLC4A4.
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- Journal of the American Dental Association (JADA), 2022, v. 153, n. 7, p. 668, doi. 10.1016/j.adaj.2021.12.009
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Core promoter in TNBC is highly mutated with rich ethnic signature.
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- Briefings in Functional Genomics, 2023, v. 22, n. 1, p. 9, doi. 10.1093/bfgp/elac035
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- Article
Human Leukocyte Antigen Markers for Distinguishing Pustular Psoriasis and Adult-Onset Immunodeficiency with Pustular Reaction.
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- Genes, 2024, v. 15, n. 3, p. 278, doi. 10.3390/genes15030278
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- Article
A Founder Intronic Variant in P3H1 Likely Results in Aberrant Splicing and Protein Truncation in Patients of Karen Descent with Osteogenesis Imperfecta Type VIII.
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- Genes, 2023, v. 14, n. 2, p. 322, doi. 10.3390/genes14020322
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- Article