About Researchers

Piranit Kantaputra

piranit.k@cmu.ac.th

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ทันตกรรมสำหรับเด็ก, วิทยาศาสตรมหาบัณฑิต

Pediatric Dentistry, ประกาศนียบัตรชั้นสูง

ทันตแพทยศาสตรบัณฑิต

No.	Title
1.	WNT10A and isolated hypodontia
2.	Enamel-renal-gingival syndrome and FAM20A mutations
3.	GREMLIN 2 mutations and dental anomalies
4.	Syndromes with supernumerary teeth
5.	Cleft lip with cleft palate, ankyloglossia, and hypodontia are associated with TBX22 mutations
6.	WNT10B mutations associated with isolated dental anomalies
7.	ΔNp63 knockdown mice: A mouse model for AEC syndrome
8.	The smallest teeth in the world are caused by mutations in the PCNT gene
9.	WNT10A, dermatology and dentistry
10.	The gen for mesomelic dysplasia Kantaputra type is mapped to chromosome 2q24-q32
11.	Tricho-rhino-phalanqeal syndrome with supernumerary teeth
12.	Oral manifestations of 17 patients affected with mucopolysaccharidosis type VI
13.	Van der Woude syndrome with sensorineural hearing loss, large craniofacial sinuses, dental pulp stones, and minor limb anomalies: Report of a four-generation Thai family
14.	WNT10A mutations also associated with agenesis of the maxillary permanent canines, a separate entity
15.	Tricho-odonto-onycho-dermal dysplasia and WNT10A mutations
16.	Mesomelic dysplasia Kantaputra type is associated with duplications of the HOXD locus on chromosome 2q
17.	Clinical manifestations of 17 patients affected with mucopolysaccharidosis type VI and eight novel ARSB mutations
18.	A novel homozygous Arg222Trp missense mutation in WNT7A in two sisters with severe Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome
19.	Laurin-Sandrow syndrome with additional associated manifestations
20.	Genetic regulatory pathways of split-hand/foot malformation
21.	Dentin Dysplasia in Notum Knockout Mice
22.	A novel gene is disrupted at a 14q13 breakpoint of t(2;14) in a patient with mirror-image polydactyly of hands and feet
23.	Contiguous gene syndrome of holoprosencephaly and hypotrichosis simplex: Association with an 18p11.3 deletion
24.	Dentinogenesis imperfecta-associated syndromes
25.	Apparently new osteodysplastic and primordial short stature with severe microdontia, opalescent teeth, and rootless molars in two siblings
26.	Enamel-Renal-Gingival syndrome, hypodontia, and a novel FAM20A mutation
27.	Are triphalangeal thumb-polysyndactyly syndrome (TPTPS) and tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome (THPTTS) identical? A father with TPTPS and his daughter with THPTTS in a Thai family
28.	The Thai reference exome (T-REx) variant database
29.	Rapp-Hodgkin syndrome with palmoplantar keratoderma, glossy tongue, congenital absence of lingual frenum and of sublingual caruncles: Newly recognized findings
30.	Microcephalic osteodysplastic primordial dwarfism with severe microdontia and skin anomalies: Confirmation of a new syndrome
31.	Phenotypic analysis of Arg227 mutations of TP63 with emphasis on dental phenotype and micturition difficulties in EEC syndrome
32.	Periodontal disease and FAM20A mutations
33.	Children's attitudes toward behavior management techniques used by dentists
34.	Robinow (fetal face) syndrome: Report of a boy with dominant type and an infant with recessive type
35.	TBX22 mutation associated with cleft lip/palate, hypodontia, and limb anomaly
36.	Juberg-Hayward syndrome: A new case report and clinical delineation of the syndrome
37.	ADAMTSL1 and mandibular prognathism
38.	Split hand-foot malformation and a novel WNT10B mutation
39.	Dyschromatosis symmetrica hereditaria with long hair on the forearms, hypo/hyperpigmented hair, and dental anomalies: Report of a novel ADAR1 mutation
40.	Long-term survival in infantile malignant autosomal recessive osteopetrosis secondary to homozygous p.Arg526Gln mutation in CLCN7
41.	Osteogenesis imperfecta with ectopic mineralizations in dentin and cementum and a COL1A2 mutation
42.	Mental retardation, obesity, mandibular prognathism with eye and skin anomalies (MOMES Syndrome): A newly recognized autosomal recessive syndrome
43.	Mutations in LRP5 and BMP4 are associated with mesiodens, tooth agenesis, root malformation, and oral exostoses
44.	Making extra teeth: Lessons from a TRPS1 mutation
45.	Mutation in SAM domain of TP63 is associated with nonsyndromic cleft lip and palate and cleft palate
46.	A novel mutation in CDKN1C in sibs with Beckwith-Wiedemann syndrome and cleft palate, sensorineural hearing loss, and supernumerary flexion creases
47.	Cryptophthalmos, dental and oral abnormalities, and brachymesophalangy of second toes: New syndrome or Fraser syndrome?
48.	A newly recognized syndrome of skeletal dysplasia with opalescent and rootless teeth
49.	Thyroid dysfunction in a patient with aglossia
50.	TFAP2B mutation and dental anomalies
51.	Twins with hereditary sensory and autonomic neuropathy type IV with preserved periodontal sensation
52.	All enamel is not created equal: Supports from a novel FAM83H mutation
53.	Missense Pathogenic variants in KIF4A Affect Dental Morphogenesis Resulting in X-linked Taurodontism, Microdontia and Dens-Invaginatus
54.	WNT1-associated osteogenesis imperfecta with atrophic frontal lobes and arachnoid cysts
55.	Cutis laxa with pulmonary emphysema, conjunctivochalasis, nasolacrimal duct obstruction, abnormal hair, and a novel FBLN5 mutation
56.	c. 595-596 insC of FOXC2 underlies lymphedema, distichiasis, ptosis, ankyloglossia, and robin sequence in a Thai patient
57.	Mutations in LRP6 highlight the role of WNT signaling in oral exostoses and dental anomalies
58.	Root dentin anomaly and a PLG mutation
59.	SERPINA1, generalized pustular psoriasis, and adult-onset immunodeficiency
60.	BCOR mutations and unstoppable root growth: A commentary on oculofaciocardiodental syndrome: Novel BCOR mutations and expression in dental cells
61.	Al-Awadi-Raas-Rothschild syndrome with dental anomalies and a novel WNT7A mutation
62.	Obesity Syndrome, MOMES caused by deletion-duplication (4q35.1 del and 5p14.3 dup)
63.	Novel Dental Anomaly–associated Mutations in WNT10A Protein Binding Sites
64.	Cryptophthalmos, dental anomalies, oral vestibule defect, and a novel FREM2 mutation
65.	Thirteen-year-follow up report on mesomelic dysplasia, Kantaputra type (MDK), and comments on the paper of the second reported family of MDK by Shears et al.
66.	Mutations in the WLS are associated with dental anomalies, torus palatinus, and torus mandibularis
67.	A newly recognized syndrome involving limbs, pelvis, and genital organs or a variant of Al-Awadi/Raas-Rothschild syndrome?
68.	TRPS1 mutation associated with trichorhinophalangeal syndrome type 1 with 15 supernumerary teeth, hypoplastic mandibular condyles with slender condylar necks and unique hair morphology
69.	Expanding genotypic and phenotypic spectrums of LTBP3 variants in dental anomalies and short stature syndrome
70.	A dominantly inherited malformation syndrome with short stature, upper limb anomaly, minor craniofacial anomalies, and absence of TBX5 mutations: Report of a Thai family
71.	Multiple supernumerary molars, anterior openbite, and large ear lobules in mucopolysaccharidosis type VI patient
72.	Isolated dentinogenesis imperfecta with glass-like enamel caused by COL1A2 mutation
73.	A truncating variant in SERPINA3, skin pustules and adult-onset immunodeficiency
74.	Preaxial polydactyly associated with a MSX1 mutation and report of two novel mutations
75.	Split hand-split foot-ectodermal dysplasia and amelogenesis imperfecta with a TP63 mutation
76.	Severe plexiform facial neurofibromatosis, type 1 with underdeveloped eyes and a novel NF1 mutation
77.	Harboyan syndrome: novel SLC4A11 mutation, clinical manifestations, and outcome of corneal transplantation
78.	Juberg-Hayward syndrome is a cohesinopathy, caused by mutation in ESCO2
79.	Treacher Collins syndrome: A novel TCOF1 mutation and monopodial stapes
80.	Impaired dentin mineralization, supernumerary teeth, hypoplastic mandibular condyles with long condylar necks, and a TRPS1 mutation
81.	Expanding the phenotypic spectrum of acro-cardio-facial syndrome (ACFS): Exclusion of P63 mutation
82.	Oral manifestations in patients and dogs with mucopolysaccharidosis Type VII
83.	A new syndrome of symphalangism, multiple frenula, postaxial polydactyly, dysplastic ears, dental anomalies, and exclusion of NOG and GDF5
84.	A Thai mother and son with distal symphalangism, hypoplastic carpal bones, microdontia, dental pulp stones, and narrowing of the zygomatic arch: A new distal symphalangism syndrome?
85.	A newly recognized polyosteolysis/hyperostosis syndrome
86.	A novel P3H1 mutation is associated with osteogenesis imperfecta type VIII and dental anomalies
87.	DKK1 is a strong candidate for mesiodens and taurodontism
88.	Rare Variants in LRP4 Are Associated with Mesiodens, Root Maldevelopment, and Oral Exostoses in Humans
89.	Clouston syndrome with pili canaliculi, pili torti, overgrown hyponychium, onycholysis, taurodontism and absence of palmoplantar keratoderma
90.	Digitotalar dysmorphism with craniofacial and other new associated abnormalities
91.	Clouston syndrome with dental anomalies, micropores of hair shafts and absence of palmoplantar keratoderma
92.	Clinical Spectrum and Tumour Risk Analysis in Patients with Beckwith-Wiedemann Syndrome Due to CDKN1C Pathogenic Variants
93.	WNT10A variant and severe scoliosis?
94.	Loss of Function TGFBR2 Variant as a Contributing Factor in Generalized Pustular Psoriasis and Adult-Onset Immunodeficiency
95.	Genetic Variants in Protein Tyrosine Phosphatase Non-Receptor Type 23 Are Responsible for Mesiodens Formation
96.	Juberg-Hayward syndrome and Roberts syndrome are allelic, caused by mutations in ESCO2
97.	Subtotal Parathyroidectomy Successfully Controls Calcium Levels of Patients with Neonatal Severe Hyperparathyroidism Carrying a Novel CASR Mutation
98.	CACNA1S mutation-associated dental anomalies: A calcium channelopathy
99.	A Founder Intronic Variant in P3H1 Likely Results in Aberrant Splicing and Protein Truncation in Patients of Karen Descent with Osteogenesis Imperfecta Type VIII
100.	SERPINB3, Adult-Onset Immunodeficiency, and Generalized Pustular Psoriasis
101.	Are dental anomalies associated with Tietz syndrome?
102.	Broad spectrum of anomalies including quadricuspid aortic valve associated with a novel frameshift SALL4 variant
103.	Clinical and Genetic Studies of the First Monozygotic Twins with Pfeiffer Syndrome
104.	Re: Microcephalic osteodysplastic primordial dwarfism with severe microdontia and skin anomalies [Kantaputra et al. 2004. Am J Med Genet 130A:181-190] [4] (multiple letters)
105.	LRP4 mutations, dental anomalies, and oral exostoses
106.	Clinical Correlate: CLCN7-Associated Autosomal Recessive Osteopetrosis
107.	Dental Anomalies in Ciliopathies: Lessons from Patients with BBS2, BBS7, and EVC2 Mutations
108.	Response to the Letter to the Editor by Idil Kurtulus-Waschulewski; Gerhard Wahl, Prof. Dr.; Katalyn Dittrich; Volker Schuster
109.	A Mutation in CACNA1S Is Associated with Multiple Supernumerary Cusps and Root Maldevelopment
110.	Heterozygous Variants in FREM2 Are Associated with Mesiodens, Supernumerary Teeth, Oral Exostoses, and Odontomas
111.	Rare Genetic Variants in Human APC Are Implicated in Mesiodens and Isolated Supernumerary Teeth
112.	Corrigendum to obesity syndrome, MOMES caused by deletion-duplication (4q35.1 del and 5p14.3 duplication) (American Journal of Medical Genetics Part A (2009) 149, 4, (833-834))
113.	Human Leukocyte Antigen Markers for Distinguishing Pustular Psoriasis and Adult-Onset Immunodeficiency with Pustular Reaction
114.	Core promoter in TNBC is highly mutated with rich ethnic signature
115.	Genetic Variants in KCTD1 Are Associated with Isolated Dental Anomalies
116.	Homozygosity for a Rare Plec Variant Suggests a Contributory Role in Congenital Insensitivity to Pain
117.	Rare Filaggrin Variants Are Associated with Pustular Skin Diseases in Asians
118.	Homozygosity for a Rare Plec Variant Suggests a Contributory Role in Congenital Insensitivity to Pain
119.	Rare Filaggrin Variants Are Associated with Pustular Skin Diseases in Asians
120.	Genetic Variants in the TBC1D2B Gene Are Associated with Ramon Syndrome and Hereditary Gingival Fibromatosis

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Piranit Kantaputra

piranit.k@cmu.ac.th

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