P. Kantaputra

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Syndromes with supernumerary teeth

M. Lubinsky, P. Kantaputra, 2016, American journal of medical genetics. Part A.

ΔNp63 knockdown mice: A mouse model for AEC syndrome

B. Marinari, A. Costanzo, D. Roop, 2009, American journal of medical genetics. Part A.

Congenital Genetic Disorders and Syndromes

P. Kantaputra, R. Slayton, 2019, Pediatric Dentistry.

Mutation in SAM domain of TP63 is associated with nonsyndromic cleft lip and palate and cleft palate

V. Dötsch, P. Kantaputra, A. R. Vieira, 2011, American journal of medical genetics. Part A.

Marked female predilection in some syndromes associated with facial hemangiomas.

J. Mulliken, R. Gorlin, P. Kantaputra, 1994, American journal of medical genetics.

Dominant mesomelic dysplasia, ankle, carpal, and tarsal synostosis type: a new autosomal dominant bone disorder.

R. Gorlin, P. Kantaputra, L. Langer, 1992, American journal of medical genetics.

Dentin Dysplasia in Notum Knockout Mice

D. Powell, G. Hansen, B. Zambrowicz, 2016, Veterinary pathology.

WNT1-associated osteogenesis imperfecta with atrophic frontal lobes and arachnoid cysts

P. Visrutaratna, Jatupol Kampuansai, P. Kantaputra, 2019, Journal of Human Genetics.

TFAP2B mutation and dental anomalies

R. Sittiwangkul, A. Ohazama, K. Kawasaki, 2017, Journal of Human Genetics.

Making extra teeth: Lessons from a TRPS1 mutation

M. Lubinsky, P. Kantaputra, Worawan Kunotai, 2017, American journal of medical genetics. Part A.

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?

N. Niikawa, A. Kinoshita, P. Kantaputra, 2002, American journal of medical genetics.

Al-Awadi-Raas-Rothschild syndrome with dental anomalies and a novel WNT7A mutation.

S. Kapoor, A. Ohazama, K. Kawasaki, 2017, European journal of medical genetics.

Tricho‐odonto‐onycho‐dermal dysplasia and WNT10A mutations

P. Kantaputra, D. Jotikasthira, M. Kaewgahya, 2014, American journal of medical genetics. Part A.

The smallest teeth in the world are caused by mutations in the PCNT gene

P. Tanpaiboon, C. Thiel, A. Rauch, 2011, American journal of medical genetics. Part A.

Phenotypic analysis of Arg227 mutations of TP63 with emphasis on dental phenotype and micturition difficulties in EEC syndrome

R. Hennekam, V. Dötsch, P. Tanpaiboon, 2011, American journal of medical genetics. Part A.

A novel homozygous Arg222Trp missense mutation in WNT7A in two sisters with severe Al‐Awadi/Raas‐Rothschild/Schinzel phocomelia syndrome

S. Mundlos, P. Kantaputra, Warissara Sripathomsawat, 2010, American journal of medical genetics. Part A.

Thyroid dysfunction in a patient with aglossia

P. Tanpaiboon, P. Kantaputra, 2003, American journal of medical genetics. Part A.

Rapp-Hodgkin syndrome with palmoplantar keratoderma, glossy tongue, congenital absence of lingual frenum and of sublingual caruncles: newly recognized findings.

P. Kantaputra, P. Vanittanakom, C. Pruksachatkunakorn, 1998, American journal of medical genetics.

Twins with hereditary sensory and autonomic neuropathy type IV with preserved periodontal sensation.

H. Kayserili, P. Kantaputra, U. Altunoğlu, 2014, European journal of medical genetics.

Cutis laxa with pulmonary emphysema, conjunctivochalasis, nasolacrimal duct obstruction, abnormal hair, and a novel FBLN5 mutation

R. Sittiwangkul, A. Iamaroon, P. Kantaputra, 2014, American journal of medical genetics. Part A.

Dyschromatosis symmetrica hereditaria with long hair on the forearms, hypo/hyperpigmented hair, and dental anomalies: Report of a novel ADAR1 mutation

A. Ohazama, P. Kantaputra, M. Kono, 2012, American journal of medical genetics. Part A.

Expanding genotypic and phenotypic spectrums of LTBP3 variants in dental anomalies and short stature syndrome

Chumpol Ngamphiw, S. Tongsima, A. Tucker, 2022, Clinical genetics.

ADAMTSL1 and mandibular prognathism

Chumpol Ngamphiw, S. Tongsima, A. Ohazama, 2019, Clinical genetics.

A novel mutation in CDKN1C in sibs with Beckwith–Wiedemann syndrome and cleft palate, sensorineural hearing loss, and supernumerary flexion creases

P. Lapunzina, R. Sittiwangkul, P. Kantaputra, 2013, American journal of medical genetics. Part A.

A dominantly inherited malformation syndrome with short stature, upper limb anomaly, minor craniofacial anomalies, and absence of TBX5 mutations: report of a Thai family.

N. Niikawa, T. Ishida, T. Kishino, 2002, American journal of medical genetics.

Clinical Correlate: CLCN7‐Associated Autosomal Recessive Osteopetrosis

P. Kantaputra, 2013 .

Mutations in LRP6 highlight the role of WNT signaling in oral exostoses and dental anomalies.

Chumpol Ngamphiw, S. Tongsima, A. Tucker, 2022, Archives of oral biology.

Novel Dental Anomaly–associated Mutations in WNT10A Protein Binding Sites

Chumpol Ngamphiw, S. Tongsima, P. Kantaputra, 2022, International dental journal.

GREMLIN 2 Mutations and Dental Anomalies

A. Ohazama, K. Kawasaki, P. Kantaputra, 2015, Journal of dental research.

Clinical and Genetic Studies of the First Monozygotic Twins with Pfeiffer Syndrome

K. Katanyuwong, Chumpol Ngamphiw, S. Tongsima, 2022, Genes.

WNT1-associated osteogenesis imperfecta with atrophic frontal lobes and arachnoid cysts

P. Visrutaratna, Jatupol Kampuansai, P. Kantaputra, 2019, Journal of Human Genetics.

Mutations in LRP5 and BMP4 are associated with mesiodens, tooth agenesis, root malformation, and oral exostoses

Chumpol Ngamphiw, S. Tongsima, P. Kantaputra, 2022, Clinical genetics.

WNT10A mutations also associated with agenesis of the maxillary permanent canines, a separate entity

P. Kantaputra, M. Kaewgahya, W. Kantaputra, 2014, American journal of medical genetics. Part A.

WNT10A and isolated hypodontia

P. Kantaputra, Warissara Sripathomsawat, 2011, American journal of medical genetics. Part A.

The Thai reference exome (T‐REx) variant database

V. Praphanphoj, D. Wichadakul, J. Piriyapongsa, 2021, Clinical genetics.

Periodontal disease and FAM20A mutations

M. Lubinsky, P. Kantaputra, S. Pata, 2017, Journal of Human Genetics.

Enamel‐renal‐gingival syndrome and FAM20A mutations

V. Thongboonkerd, A. Iamaroon, P. Kantaputra, 2014, American journal of medical genetics. Part A.

WNT10A, dermatology and dentistry

J. McGrath, A. Onoufriadis, P. Kantaputra, 2021, The British journal of dermatology.

Harboyan syndrome: novel SLC4A11 mutation, clinical manifestations, and outcome of corneal transplantation

B. Olsen, Jatupol Kampuansai, P. Kantaputra, 2020, Journal of human genetics.

Cryptophthalmos, dental and oral abnormalities, and brachymesophalangy of second toes: new syndrome or Fraser syndrome?

P. Visrutaratna, P. Kantaputra, S. Opastirakul, 2001, American journal of medical genetics.

Harboyan syndrome: novel SLC4A11 mutation, clinical manifestations, and outcome of corneal transplantation

Jatupol Kampuansai, P. Kantaputra, M. Srikummool, 2020, Journal of Human Genetics.

All enamel is not created equal:Supports from a novel FAM83H mutation

P. Kantaputra, P. Auychai, W. Intachai, 2016, American journal of medical genetics. Part A.

Split hand‐split foot‐ectodermal dysplasia and amelogenesis imperfecta with a TP63 mutation

O. Matangkasombut, P. Kantaputra, Warissara Sripathomsawat, 2012, American journal of medical genetics. Part A.

Preaxial polydactyly associated with a MSX1 mutation and report of two novel mutations

P. Kantaputra, Onnida Wattanarat, 2016, American journal of medical genetics. Part A.

Tricho-Rhino-Phalangeal Syndrome with Supernumerary Teeth

R. Shivdasani, V. Praphanphoj, P. T. Sharpe, 2008, Journal of dental research.

Laurin-Sandrow syndrome with additional associated manifestations.

P. Kantaputra, 2001, American journal of medical genetics.

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.

P. Kantaputra, P. Chalidapong, P. Chalidapong, 2000, American journal of medical genetics.

Are dental anomalies associated with Tietz syndrome?

B. Olsen, P. Kantaputra, J. R. Ketudat Cairns, 2020, European Journal of Dermatology.

Severe plexiform facial neurofibromatosis, type 1 with underdeveloped eyes and a novel NF1 mutation

A. V. D. van den Ouweland, P. Kantaputra, C. Limwongse, 2012, American journal of medical genetics. Part A.

Robinow (fetal face) syndrome: report of a boy with dominant type and an infant with recessive type.

R. Gorlin, P. Kantaputra, J. Sudasna, 1999, American journal of medical genetics.

Clinical Spectrum and Tumour Risk Analysis in Patients with Beckwith-Wiedemann Syndrome Due to CDKN1C Pathogenic Variants

P. Lapunzina, J. Nevado, N. Gallego, 2022, Cancers.

Mutations in the WLS are associated with dental anomalies, torus palatinus, and torus mandibularis.

S. Tongsima, P. Kantaputra, J. R. Ketudat Cairns, 2022, European journal of orthodontics.

Cleft Lip with Cleft Palate, Ankyloglossia, and Hypodontia are Associated with TBX22 Mutations

M. Lees, M. McEntagart, P. Stanier, 2011, Journal of dental research.

Oral manifestations of 17 patients affected with mucopolysaccharidosis type VI

H. Kayserili, P. Tanpaiboon, A. Dalal, 2014, Journal of Inherited Metabolic Disease.

c. 595‐596 insC of FOXC2 underlies lymphedema, distichiasis, ptosis, ankyloglossia, and Robin sequence in a Thai patient

P. Tanpaiboon, W. Piyamongkol, P. Kantaputra, 2010, American journal of medical genetics. Part A.

Long‐term survival in infantile malignant autosomal recessive osteopetrosis secondary to homozygous p.Arg526Gln mutation in CLCN7

C. Supanchart, P. Sharpe, A. Ohazama, 2012, American journal of medical genetics. Part A.

TBX22 Mutation Associated with Cleft Lip/Palate, Hypodontia, and Limb Anomaly

P. Kantaputra, S. Malaivijitnond, D. Jotikasthira, 2012, The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association.

Genetic Variants in Protein Tyrosine Phosphatase Non-Receptor Type 23 Are Responsible for Mesiodens Formation

S. Eliason, S. Arold, S. Tongsima, 2023, Biology.

Dental Anomalies in Ciliopathies: Lessons from Patients with BBS2, BBS7, and EVC2 Mutations

K. Katanyuwong, P. Beales, S. Tongsima, 2022, Genes.

Cryptophthalmos, dental anomalies, oral vestibule defect, and a novel FREM2 mutation

S. Tongsima, A. Tucker, P. Kantaputra, 2021, Journal of Human Genetics.

Cryptophthalmos, dental anomalies, oral vestibule defect, and a novel FREM2 mutation

S. Tongsima, A. Tucker, P. Kantaputra, 2021, Journal of human genetics.

Mesomelic dysplasia Kantaputra type is associated with duplications of the HOXD locus on chromosome 2q

S. Mundlos, V. Praphanphoj, B. P. Hennig, 2010, European Journal of Human Genetics.

Genetic regulatory pathways of split‐hand/foot malformation

P. Kantaputra, B. Carlson, 2018, Clinical genetics.

Heterozygous Mutation in the SAM Domain of p63 Underlies Rapp-Hodgkin Ectodermal Dysplasia

J. McGrath, P. Kantaputra, T. Hamada, 2003, Journal of dental research.

A Mutation in CACNA1S Is Associated with Multiple Supernumerary Cusps and Root Maldevelopment

S. Tongsima, A. Ohazama, N. Quarto, 2023, Diagnostics.

Osteogenesis imperfecta with ectopic mineralizations in dentin and cementum and aCOL1A2mutation

S. Tongsima, P. Kantaputra, Y. Sirirungruangsarn, 2018, Journal of Human Genetics.

WNT10B mutations associated with isolated dental anomalies

C. Leethanakul, A. Tolun, P. Kantaputra, 2018, Clinical genetics.

Split hand-foot malformation and a novel WNT10B mutation.

S. Kapoor, P. Kantaputra, J. R. Ketudat Cairns, 2018, European journal of medical genetics.

Oral manifestations in patients and dogs with mucopolysaccharidosis Type VII

P. Tanpaiboon, S. Nampoothiri, Lachlan J. Smith, 2019, American journal of medical genetics. Part A.

Clinical manifestations of 17 patients affected with mucopolysaccharidosis type VI and eight novel ARSB mutations

H. Kayserili, P. Tanpaiboon, A. Dalal, 2014, American journal of medical genetics. Part A.

Multiple supernumerary molars, anterior openbite, and large ear lobules in mucopolysaccharidosis type VI patient

H. Kayserili, P. Kantaputra, 2012, American journal of medical genetics. Part A.

Clouston syndrome with pili canaliculi, pili torti, overgrown hyponychium, onycholysis, taurodontism and absence of palmoplantar keratoderma

A. Ohazama, N. Quarto, K. Kawasaki, 2020, The Journal of dermatology.

Clouston syndrome with dental anomalies, micropores of hair shafts and absence of palmoplantar keratoderma

P. Kantaputra, Bruce M. Carlson, C. Pruksachatkunakorn, 2020, The Journal of dermatology.

A newly recognized polyosteolysis/hyperostosis syndrome

P. Kantaputra, C. Limwongse, A. Koolvisoot, 2006, American journal of medical genetics. Part A.

A novel gene is disrupted at a 14q13 breakpoint of t(2;14) in a patient with mirror-image polydactyly of hands and feet

Y. Fukushima, N. Niikawa, K. Yoshiura, 2002, Journal of Human Genetics.

Enamel–Renal–Gingival syndrome, hypodontia, and a novel FAM20A mutation

H. Kayserili, A. Ohazama, P. Kantaputra, 2014, American journal of medical genetics. Part A.

Distal renal tubular acidosis, autoimmune thyroiditis, enamel hypomaturation, and tooth agenesis caused by homozygosity of a novel double-nucleotide substitution in SLC4A4.

S. Tongsima, P. Kantaputra, Cezmi Doğan, 2022, Journal of the American Dental Association.

A newly recognized syndrome involving limbs, pelvis, and genital organs or a variant of Al‐Awadi/Raas‐Rothschild syndrome?

P. Tanpaiboon, P. Kantaputra, 2005, American journal of medical genetics. Part A.

Contiguous gene syndrome of holoprosencephaly and hypotrichosis simplex: Association with an 18p11.3 deletion

V. Praphanphoj, A. Mutirangura, P. Kantaputra, 2006, American journal of medical genetics. Part A.

BCOR mutations and unstoppable root growth: a commentary on oculofaciocardiodental syndrome: novel BCOR mutations and expression in dental cells

P. Kantaputra, 2014, Journal of Human Genetics.

Missense Pathogenic variants in KIF4A Affect Dental Morphogenesis Resulting in X-linked Taurodontism, Microdontia and Dens-Invaginatus

A. Adeyemo, S. Robertson, S. Eliason, 2019, Front. Genet..

Double dens invaginatus of molarized maxillary central incisors, premolarization of maxillary lateral incisors, multituberculism of the mandibular incisors, canines and first premolar, and sensorineural hearing loss.

R. Gorlin, P. Kantaputra, 1992, Clinical dysmorphology.

Mental retardation, obesity, mandibular prognathism with eye and skin anomalies (MOMES syndrome): a newly recognized autosomal recessive syndrome.

P. Kantaputra, P. Patikulsila, J. Kunachaichote, 2001, American journal of medical genetics.

Impaired dentin mineralization, supernumerary teeth, hypoplastic mandibular condyles with long condylar necks, and a TRPS1 mutation.

W. Tan, P. Kantaputra, S. Coury, 2020, Archives of oral biology.

SERPINA1, generalized pustular psoriasis, and adult‐onset immunodeficiency

J. McGrath, S. Tongsima, N. Quarto, 2021, The Journal of dermatology.

A newly recognized syndrome of skeletal dysplasia with opalescent and rootless teeth.

P. Kantaputra, 2001, Oral surgery, oral medicine, oral pathology, oral radiology, and endodontics.

Apparently new osteodysplastic and primordial short stature with severe microdontia, opalescent teeth, and rootless molars in two siblings.

P. Kantaputra, 2002, American journal of medical genetics.

Expanding the phenotypic spectrum of acro‐cardio‐facial syndrome (ACFS): Exclusion of P63 mutation

P. Tanpaiboon, R. Sittiwangkul, P. Kantaputra, 2009, American journal of medical genetics. Part A.

WNT10A variant and severe scoliosis?

J. McGrath, P. Kantaputra, B. Olsen, 2022, The Journal of dermatology.

Subtotal parathyroidectomy successfully controls calcium levels of patients with neonatal severe hyperparathyroidism carrying a novel CASR mutation.

S. Tongsima, P. Kantaputra, J. Khorana, 2023, Hormone Research in Paediatrics.

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.

B. Schutte, Y. Sumitsawan, P. Kantaputra, 2002, American journal of medical genetics.

The gene for mesomelic dysplasia Kantaputra type is mapped to chromosome 2q24-q32

M. D'urso, T. Takagi, Yusuke Nakamura, 1998, Journal of Human Genetics.

Root dentin anomaly and a PLG mutation.

P. Charoenkwan, A. Ohazama, P. Kantaputra, 2014, European journal of medical genetics.

Dentinogenesis imperfecta-associated syndromes.

P. Kantaputra, 2001, American journal of medical genetics.

Isolated dentinogenesis imperfecta with glass‐like enamel caused by COL1A2 mutation

S. Tongsima, P. Kantaputra, J. R. Ketudat Cairns, 2018, American journal of medical genetics. Part A.

Digitotalar dysmorphism with craniofacial and other new associated abnormalities.

P. Visrutaratna, P. Kantaputra, P. Chalidapong, 2001, Clinical dysmorphology.

Rare Genetic Variants in Human APC Are Implicated in Mesiodens and Isolated Supernumerary Teeth

S. Tongsima, T. Cox, P. Kantaputra, 2023, International journal of molecular sciences.

Microcephalic osteodysplastic primordial dwarfism with severe microdontia and skin anomalies: Confirmation of a new syndrome

V. Praphanphoj, P. Tanpaiboon, P. Kantaputra, 2004, American journal of medical genetics. Part A.

Treacher Collins syndrome: A novel TCOF1 mutation and monopodial stapes

S. Tongsima, N. Quarto, P. Kantaputra, 2020, Clinical otolaryngology : official journal of ENT-UK ; official journal of Netherlands Society for Oto-Rhino-Laryngology & Cervico-Facial Surgery.

Dental Anomalies in Ciliopathies: Lessons from Patients with BBS2, BBS7, and EVC2 Mutations

P. Kitcher, K. Katanyuwong, S. Tongsima, 2022, Genes.

Loss of Function TGFBR2 Variant as a Contributing Factor in Generalized Pustular Psoriasis and Adult-Onset Immunodeficiency

S. Tongsima, T. Cox, Jatupol Kampuansai, 2022, Genes.

Children's attitudes toward behavior management techniques used by dentists.

P. Kantaputra, A. Aramrattana, P. Malikaew, 2007, Journal of dentistry for children.

Juberg-Hayward syndrome and Roberts syndrome are allelic, caused by mutations in ESCO2.

B. Olsen, S. Tongsima, L. Ngiwsara, 2020, Archives of oral biology.

Core promoter in TNBC is highly mutated with rich ethnic signature

S. Tongsima, S. Wang, P. Kantaputra, 2022, Briefings in functional genomics.

Tricho‐odonto‐onycho‐dermal dysplasia and WNT10A mutations

P. Kantaputra, D. Jotikasthira, M. Kaewgahya, 2014, American journal of medical genetics. Part A.

Preaxial polydactyly associated with a MSX1 mutation and report of two novel mutations

P. Kantaputra, Onnida Wattanarat, 2016, American Journal of Medical Genetics. Part A.

SERPINB3, Adult-Onset Immunodeficiency, and Generalized Pustular Psoriasis

P. Pontisso, S. Tongsima, T. Cox, 2023, Genes.

Clinical manifestations of 17 patients affected with mucopolysaccharidosis type VI and eight novel ARSB mutations

H. Kayserili, P. Tanpaiboon, A. Dalal, 2014, American journal of medical genetics. Part A.