Research Topics
Species | Piranit N KantaputraSummaryAffiliation: Chiang Mai University Country: Thailand Publications
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Detail Information
Publications
Van der Woude syndrome with sensorineural hearing loss, large craniofacial sinuses, dental pulp stones, and minor limb anomalies: report of a four-generation Thai familyPiranit N Kantaputra
Department of Pediatric Dentistry, Faculty of Dentistry, Chiang Mai University, Chiang Mai, Thailand
Am J Med Genet 108:275-80. 2002..Fluorescence in situ hybridization analysis revealed no visible deletion at a 1q32-41 region...
Heterozygous mutation in the SAM domain of p63 underlies Rapp-Hodgkin ectodermal dysplasiaP N Kantaputra
Department of Pediatric Dentistry, Faculty of Dentistry, Chiang Mai University, Chiang Mai 50200, Thailand
J Dent Res 82:433-7. 2003..Collectively, these investigations demonstrate that RHS is also caused by mutations in p63 and that the clinical similarities to AEC syndrome are paralleled by the nature of the inherent mutation...
Microcephalic osteodysplastic primordial dwarfism with severe microdontia and skin anomalies: confirmation of a new syndromePiranit N Kantaputra
Department of Pediatric Dentistry, Faculty of Dentistry, Chiang Mai University, Chiang Mai 50200, Thailand
Am J Med Genet A 130:181-90. 2004..This article contains supplementary material, which may be viewed at the American Journal of Medical Genetics website at http://www.interscience.wiley.com/jpages/0148-7299/suppmat/index.html...
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 alPiranit Nik Kantaputra
Department of Pediatric Dentistry, Faculty of Dentistry, Chiang Mai University, Chiang Mai 50200, Thailand
Am J Med Genet A 128:1-5. 2004
Thyroid dysfunction in a patient with aglossiaPiranit Kantaputra
Department of Pediatric Dentistry, Faculty of Dentistry, Chiang Mai University, Chiang Mai 50200, Thailand
Am J Med Genet A 122:274-7. 2003..We propose that micrognathia, microsomia, congenital absence of mandibular incisors, and collapse of the mandibular arch are the result of abnormal tongue development...
A new syndrome of symphalangism, multiple frenula, postaxial polydactyly, dysplastic ears, dental anomalies, and exclusion of NOG and GDF5Piranit N Kantaputra
Department of Pediatric Dentistry, Faculty of Dentistry, Chiang Mai University, Thailand
Am J Med Genet A 120:381-5. 2003..Mutation analyses of NOG and GDF5, the genes responsible for symphalangism-related syndromes, were negative...
A newly recognized polyosteolysis/hyperostosis syndromePiranit N Kantaputra
Department of Pediatric Dentistry, Faculty of Dentistry, Chiang Mai University, Chiang Mai, Thailand
Am J Med Genet A 140:2640-5. 2006..Direct sequencing failed to identify a TNFRSF11B mutation. Because the parents of our propositus were first cousins suggests that polyosteolysis/hyperostosis syndrome may possibly have autosomal recessive inheritance...
A dominantly inherited malformation syndrome with short stature, upper limb anomaly, minor craniofacial anomalies, and absence of TBX5 mutations: report of a Thai familyPiranit N Kantaputra
Department of Pediatric Dentistry, Faculty of Dentistry, Chiang Mai University, Chiang Mai, Thailand
Am J Med Genet 111:301-6. 2002..The present family deserves further investigation on other genes that play a role in the development of the upper limbs, particularly of radial rays...
Apparently new osteodysplastic and primordial short stature with severe microdontia, opalescent teeth, and rootless molars in two siblingsPiranit N Kantaputra
Department of Pediatric Dentistry, Faculty of Dentistry, Chiang Mai University, Thailand
Am J Med Genet 111:420-8. 2002..The mode of inheritance is suspected to be autosomal recessive...
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?Piranit N Kantaputra
Department of Pediatric Dentistry, Faculty of Dentistry, Chiang Mai University, Chiang Mai, Thailand
Am J Med Genet 109:56-60. 2002..Mutation analysis of NOG and ROR2, the genes responsible for proximal symphalangism and brachydactyly type B, respectively, was negative...
Mental retardation, obesity, mandibular prognathism with eye and skin anomalies (MOMES syndrome): a newly recognized autosomal recessive syndromeP N Kantaputra
Department of Pediatric Dentistry, Faculty of Dentistry, Chiang Mai University, Chiang Mai 50200, Thailand
Am J Med Genet 103:283-8. 2001..The disorder is suggested to be autosomal recessive. The combination of findings found in our patients has not hitherto been described...
A newly recognized syndrome of skeletal dysplasia with opalescent and rootless teethP N Kantaputra
Department of Pediatric Denstry, Faculty of Dentistry, Chiang Mai University, Thailand
Oral Surg Oral Med Oral Pathol Oral Radiol Endod 92:303-7. 2001..Some maxillary roots were extremely short and tapered. Hypodontia was also observed. These findings represent a unique and hitherto undescribed syndrome of skeletal dysplasia with concomitant dental anomalies...
Digitotalar dysmorphism with craniofacial and other new associated abnormalitiesP N Kantaputra
Department of Paediatric Dentistry, Faculty of Dentistry, Chiang Mai University, Thailand
Clin Dysmorphol 10:171-5. 2001..The findings in the reported family which are consistent with digitotalar dysmorphism, include congenital clasped thumbs, ulnar deviation of fingers, and a congenital vertical tali...
Cryptophthalmos, dental and oral abnormalities, and brachymesophalangy of second toes: new syndrome or Fraser syndrome?P Kantaputra
Department of Pediatric Dentistry, Faculty of Dentistry, Chiang Mai University, Chiang Mai, Thailand
Am J Med Genet 98:263-8. 2001..The oral manifestations and brachymesophalangy of the second toes found in our patient may represent newly recognized findings associated with cryptophthalmos or they may represent a newly recognized syndrome...
Children's attitudes toward behavior management techniques used by dentistsP N Kantaputra
Dentaland Clinic Department of Pediatric Dentistry, Faculty of Dentistry, Chiang Mai University, Chiang Mai, Thailand
J Dent Child (Chic) 74:4-9. 2007..Many behavior management techniques (BMTs) are used in dental offices. The objective of this study was to evaluate how children felt towards the BMT used in the dental office by using the newly invented "attitude meter."..
Robinow (fetal face) syndrome: report of a boy with dominant type and an infant with recessive typeP N Kantaputra
Department of Pediatric Dentistry, Faculty of Dentistry, Chiang Mai University, Thailand
Am J Med Genet 84:1-7. 1999..She also had capillary hemangioma at the tip of her nose and hypoplastic fourth metatarsal bones, which are the newly recognized features of the recessive type. Infrequently reported clinical manifestations of the syndrome are discussed...
Contiguous gene syndrome of holoprosencephaly and hypotrichosis simplex: association with an 18p11.3 deletionPiranit N Kantaputra
Faculty of Dentistry, Department of Pediatric Dentistry, Chiang Mai University, Chiang Mai, Bangkok, Thailand
Am J Med Genet A 140:2598-602. 2006..Possible explanations include (1) the effects of a different deleted region, (2) a positional effect caused by a gene close by, or (3) by interruption of a different gene resulting from chromosomal translocation...
Mesomelic dysplasia Kantaputra type is associated with duplications of the HOXD locus on chromosome 2qPiranit N Kantaputra
Department of Pediatric Dentistry, Craniofacial Genetics Laboratory, Faculty of Dentistry, Chiang Mai University, Chiang Mai, Thailand
Eur J Hum Genet 18:1310-4. 2010..We propose that MDK is caused by duplications that modify the topography of the locus and as such result in deregulation of HOXD gene expression...
Mutation in SAM domain of TP63 is associated with nonsyndromic cleft lip and palate and cleft palatePiranit N Kantaputra
Division of Pediatric Dentistry, Department of Orthodontics and Pediatric Dentistry, Chiang Mai University, Thailand
Am J Med Genet A 155:1432-6. 2011..Here, we report on a SAM domain mutation (p.Asp564His) in TP63 that predisposed the patients to have nonsyndromic cleft palate and nonsyndromic cleft lip and palate...
A newly recognized syndrome involving limbs, pelvis, and genital organs or a variant of Al-Awadi/Raas-Rothschild syndrome?Piranit N Kantaputra
Department of Pediatric Dentistry, Faculty of Dentistry, Chiang Mai University, Chiang Mai, Thailand
Am J Med Genet A 132:63-7. 2005..The findings in this group of patients appear to demonstrate limb-pelvis-genital organ developmental field defects...
Laurin-Sandrow syndrome with additional associated manifestationsP N Kantaputra
Department of Pediatric Dentistry, Faculty of Dentistry, Chiang Mai University, Chiang Mai, Thailand
Am J Med Genet 98:210-5. 2001..The relationship between LSS, tibial hemimelia-polysyndactyly-triphalangeal thumbs syndrome, triphalangeal thumb-polysyndactyly syndrome, preaxial polydactyly types 2 and 3, and Haas-type syndactyly is discussed...
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 familyP N Kantaputra
Department of Pediatric Dentistry, Faculty of Dentistry, Chiang Mai University, Thailand
Am J Med Genet 93:126-31. 2000..We propose to call the condition "tibial hemimelia-polysyndactyly-triphalangeal thumbs syndrome."..
Rapp-Hodgkin syndrome with palmoplantar keratoderma, glossy tongue, congenital absence of lingual frenum and of sublingual caruncles: newly recognized findingsP N Kantaputra
Department of Pediatric Dentistry, Faculty of Dentistry, Chiang Mai University, Thailand
Am J Med Genet 79:343-6. 1998..Overlapping findings of RHS ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC), and ankyloblepharon-ectodermal defects-cleft lip and palate syndrome (AEC) are discussed...
A novel homozygous Arg222Trp missense mutation in WNT7A in two sisters with severe Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndromePiranit N Kantaputra
Division of Pediatric Dentistry, Department of Orthodontics and Pediatric Dentistry Craniofacial Genetics Laboratory, Faculty of Dentistry, Chiang Mai University, Chiang Mai, Thailand
Am J Med Genet A 152:2832-7. 2010....
