Kantaputra, Piranit N: search on Z-Library

The world's largest scientific articles store. 70,000,000+ articles for free.

1

Response to: Microcephalic osteodysplastic primordial dwarfism with severe microdontia and skin anomalies by Dr. Judith Hall

Piranit Nik Kantaputra, Pranoot Tanpaiboon

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 29 KB

english, 2005

2

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

Guven, Yeliz, Altunoglu, Umut, Aktoren, Oya, Uyguner, Zehra Oya, Kayserili, Hulya, Kaewkahya, Massupa, Kantaputra, Piranit Nik

Journal:

European Journal of Medical Genetics

Year:

2014

Language:

english

File:

PDF, 1.68 MB

english, 2014

3

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

Piranit N. Kantaputra

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 632 KB

english, 2002

4

Oral manifestations of 17 patients affected with mucopolysaccharidosis type VI

Kantaputra, Piranit Nik, Kayserili, Hülya, Güven, Yeliz, Kantaputra, Warissara, Balci, Mehmet C., Tanpaiboon, Pranoot, Uttarilli, Anusha, Dalal, Ashwin

Journal:

Journal of Inherited Metabolic Disease

Year:

2014

Language:

english

File:

PDF, 735 KB

english, 2014

5

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

Piranit N. Kantaputra, Yupa Sumitsawan, Brian C. Schutte, Chintana Tochareontanaphol

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 254 KB

english, 2002

6

Split hand-foot malformation and a novel WNT10B mutation

Kantaputra, Piranit Nik, Kapoor, Seema, Verma, Prashant, Intachai, Worrachet, Ketudat Cairns, James R.

Journal:

European Journal of Medical Genetics

Year:

2018

Language:

english

File:

PDF, 808 KB

english, 2018

7

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

Kantaputra, Piranit N., Pruksachatkunakorn, Chulabhorn, Vanittanakom, Pramote

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 141 KB

english, 1998

8

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

Piranit Nik Kantaputra, Saranya Thawanaphong, Witchapong Issarangporn, Phennapha Klangsinsirikul, Atsushi Ohazama, Paul Sharpe, Chayarop Supanchart

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 640 KB

english, 2012

9

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

Piranit N. Kantaputra, Jurairat Kunachaichote, Prapatsorn Patikulsila

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 347 KB

english, 2001

10

Thyroid dysfunction in a patient with aglossia

Piranit Kantaputra, Pranoot Tanpaiboon

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 155 KB

english, 2003

11

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

Piranit N. Kantaputra, Stefan Mundlos, Warissara Sripathomsawat

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 247 KB

english, 2010

12

A new syndrome of symphalangism, multiple frenula, postaxial polydactyly, dysplastic ears, dental anomalies, and exclusion of NOG and GDF5

Piranit N. Kantaputra, Yupada Pongprot, Oranud Praditsap, Theeraphong Pho-iam, Chanin Limwongse

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 183 KB

english, 2003

13

A newly recognized polyosteolysis/hyperostosis syndrome

Piranit N. Kantaputra, Chanin Limwongse, Ajchara Koolvisoot, Apichart Ausawamongkolkul, Somsiri Tayavitit

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 305 KB

english, 2006

14

Root dentin anomaly and a PLG mutation

Tananuvat, Napaporn, Charoenkwan, Pimlak, Ohazama, Atsushi, Ketuda Cairns, James R., Kaewgahya, Massupa, Kantaputra, Piranit Nik

Journal:

European Journal of Medical Genetics

Year:

2014

Language:

english

File:

PDF, 1.77 MB

english, 2014

15

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

Piranit Kantaputra, Pranoot Tanpaiboon, Thantrira Porntaveetus, Atsushi Ohazama, Paul Sharpe, Anita Rauch, Atiwat Hussadaloy, Christian T. Thiel

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 2.62 MB

english, 2011

16

Dentinogenesis imperfecta-associated syndromes

Piranit N. Kantaputra

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 252 KB

english, 2001

17

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

Piranit N. Kantaputra, Pakanart Eiumtrakul, Tada Matin, Saowaluk Opastirakul, Pannee Visrutaratna, Umnat Mevate

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 313 KB

english, 2001

18

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

Piranit N. Kantaputra, Sutti Malaivijitnond, Alexandre R. Vieira, Jan Heering, Volker Dötsch, Theerapong Khankasikum, Warissara Sripathomsawat

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 973 KB

english, 2011

19

Syndromes with supernumerary teeth

Lubinsky, Mark, Kantaputra, Piranit Nik

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 100 KB

english, 2016

20

TFAP2B mutation and dental anomalies

Tanasubsinn, Natchaya, Sittiwangkul, Rekwan, Pongprot, Yupada, Kawasaki, Katsushige, Ohazama, Atsushi, Sastraruji, Thanapat, Kaewgahya, Massupa, Kantaputra, Piranit Nik

Journal:

Journal of Human Genetics

Year:

2017

Language:

english

File:

PDF, 2.66 MB

english, 2017

21

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

Piranit N. Kantaputra, Pranoot Tanpaiboon

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 139 KB

english, 2005

22

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

Kantaputra, Piranit Nik, Chinadet, Wannapa, Intachai, Worrachet, Ngamphiw, Chumpol, Ketudat Cairns, James R., Tongsima, Sissades

Journal:

American Journal of Medical Genetics Part A

Year:

2018

Language:

english

File:

PDF, 1.32 MB

english, 2018

23

ADAMTSL1 and mandibular prognathism

Kantaputra, Piranit Nik, Pruksametanan, Apitchaya, Phondee, Nattapol, Hutsadaloi, Athiwat, Intachai, Worrachet, Kawasaki, Katsushig, Ohazama, Atsushi, Ngamphiw, Chumpol, Tongsima, Sissades, Ketudat Ca

Journal:

Clinical Genetics

Year:

2019

Language:

english

File:

PDF, 1.90 MB

english, 2019

24

Periodontal disease and FAM20A mutations

Kantaputra, Piranit Nik, Bongkochwilawan, Chotika, Lubinsky, Mark, Pata, Supansa, Kaewgahya, Massupa, Tong, Huei Jinn, Ketudat Cairns, James R, Guven, Yeliz, Chaisrisookumporn, Nipon

Journal:

Journal of Human Genetics

Year:

2017

Language:

english

File:

PDF, 2.31 MB

english, 2017

25

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

Kantaputra, Piranit Nik, Coury, Stephanie A., Tan, Wen-Hann

Journal:

Archives of Oral Biology

Year:

2020

File:

PDF, 2.61 MB

2020

26

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

Piranit N. Kantaputra, Robert J. Gorlin, Leonard O. Langer Jr.

Journal:

American Journal of Medical Genetics Part A

Year:

1992

Language:

english

File:

PDF, 855 KB

english, 1992

27

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

Pranoot Tanpaiboon, Piranit Kantaputra, Karn Wejathikul, Wirawit Piyamongkol

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 142 KB

english, 2010

28

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

Pranoot Tanpaiboon, Rekwan Sittiwangkul, Prapai Dejkhamron, Metawee Srikummool, Warissara Sripathomsawat, Piranit Kantaputra

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 160 KB

english, 2009

29

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

Kantaputra, Piranit Nik, Sittiwangkul, Rekwan, Sonsuwan, Nuntigar, Romanelli, Valeria, Tenorio, Jair, Lapunzina, Pablo

Journal:

American Journal of Medical Genetics Part A

Year:

2013

Language:

english

File:

PDF, 369 KB

english, 2013

30

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

Kaewkhampa, Arunee, Jotikasthira, Dhirawat, Malaivijitnond, Sutti, Kantaputra, Piranit

Journal:

The Cleft Palate-Craniofacial Journal

Year:

2012

Language:

english

File:

PDF, 2.94 MB

english, 2012

31

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

Kantaputra, Piranit Nik, Kapoor, Seema, Verma, Prashant, Kaewgahya, Massupa, Kawasaki, Katsushige, Ohazama, Atsushi, Ketudat Cairns, James R.

Journal:

European Journal of Medical Genetics

Year:

2017

Language:

english

File:

PDF, 1.21 MB

english, 2017

32

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

Kantaputra, Piranit N, Klopocki, Eva, Hennig, Bianca P, Praphanphoj, Verayuth, Le Caignec, Cédric, Isidor, Bertrand, Kwee, Mei L, Shears, Deborah J, Mundlos, Stefan

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 305 KB

english, 2010

33

Genetic regulatory pathways of split hand-foot malformation

Kantaputra, Piranit Nik, Carlson, Bruce M.

Journal:

Clinical Genetics

Year:

2018

Language:

english

File:

PDF, 787 KB

english, 2018

34

TRPS1 mutation associated with trichorhinophalangeal syndrome type 1 with 15 supernumerary teeth, hypoplastic mandibular condyles with slender condylar necks and unique hair morphology

Nik Kantaputra, Piranit, Jotikasthira, Dhirawat, Carlson, Bruce, Wongmaneerung, Teerapat, Quarto, Natalina, Khankasikum, Theerapong, Powcharoen, Warit, Intachai, Worrachet, Tripuwabhrut, Kanich

Journal:

The Journal of Dermatology

Year:

2020

File:

PDF, 1.32 MB

2020

35

Marked female predilection in some syndromes associated with facial hemangiomas

Robert J. Gorlin, Piranit Kantaputra, David J. Aughton, John B. Mulliken

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 609 KB

english, 1994

36

Enamel-renal-gingival syndrome and FAM20A mutations

Kantaputra, Piranit Nik, Kaewgahya, Massupa, Khemaleelakul, Udomrat, Dejkhamron, Prapai, Sutthimethakorn, Suchitra, Thongboonkerd, Visith, Iamaroon, Anak

Journal:

American Journal of Medical Genetics Part A

Year:

2014

Language:

english

File:

PDF, 1.70 MB

english, 2014

37

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

Kantaputra, Piranit Nik, Bongkochwilawan, Chotika, Kaewgahya, Massupa, Ohazama, Atsushi, Kayserili, Hulya, Erdem, Arzu Pinar, Aktoren, Oya, Guven, Yeliz

Journal:

American Journal of Medical Genetics Part A

Year:

2014

Language:

english

File:

PDF, 1.01 MB

english, 2014

38

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

Kantaputra, Piranit Nik, Dejkhamron, Prapai, Tongsima, Sissades, Ngamphiw, Chumpol, Intachai, Worrachet, Ngiwsara, Lukana, Sawangareetrakul, Phannee, Svasti, Jisnuson, Olsen, Bjorn, Cairns, James R. K

Journal:

Archives of Oral Biology

Year:

2020

File:

PDF, 13.65 MB

2020

39

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

Wattanarat, Onnida, Kantaputra, Piranit Nik

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 448 KB

english, 2016

40

WNT10A and isolated hypodontia

Piranit Kantaputra, Warissara Sripathomsawat

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 190 KB

english, 2011

41

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

Piranit N. Kantaputra, Oranart Matangkasombut, Warissara Sripathomsawat

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 565 KB

english, 2012

42

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

Hülya Kayserili, Piranit Nik Kantaputra

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 154 KB

english, 2012

43

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

Kantaputra, Piranit Nik, Kaewgahya, Massupa, Wiwatwongwana, Atchareeya, Wiwatwongwana, Damrong, Sittiwangkul, Rekwan, Iamaroon, Anak, Dejkhamron, Prapai

Journal:

American Journal of Medical Genetics Part A

Year:

2014

Language:

english

File:

PDF, 2.33 MB

english, 2014

44

Making extra teeth: Lessons from a TRPS1 mutation

Kunotai, Worawan, Ananpornruedee, Panjit, Lubinsky, Mark, Pruksametanan, Apitchaya, Kantaputra, Piranit Nik

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 1.54 MB

english, 2016

45

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

Piranit N. Kantaputra, Kentaro Yamasaki, Takafumi Ishida, Tatsuya Kishino, Norio Niikawa

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 279 KB

english, 2002

46

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

Kantaputra, Piranit, Intachai, Worrachet, Kawasaki, Katsushige, Ohazama, Atsushi, Carlson, Bruce, Quarto, Natalina, Pruksachatkun, Chulabhorn, Chuamanochan, Mati

Journal:

The Journal of Dermatology

Year:

2020

File:

PDF, 532 KB

2020

47

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

Piranit N. Kantaputra, Chanin Limwongse, Chintana Tochareontanaphol, Apiwat Mutirangura, Umnat Mevatee, Verayuth Praphanphoj

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 292 KB

english, 2006

48

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

Piranit Nik Kantaputra, Ans van den Ouweland, Tumtip Sangruchi, Chanin Limwongse

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 264 KB

english, 2012

49

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

Kantaputra, Piranit Nik, Intachai, Worrachet, Auychai, Prim

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 746 KB

english, 2016

50

ΔNp63 knockdown mice: A mouse model for AEC syndrome

Maranke I. Koster, Barbara Marinari, Aimee S. Payne, Piranit N. Kantaputra, Antonio Costanzo, Dennis R. Roop

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 441 KB

english, 2009

To build up a library is to create a life. It’s never just a random collection of books.

— Carlos María Domínguez

Official channel

Z-Library Desktop Launcher

Z-Library Since 2009 support@1delivery.pm

EnglishРусскийEspañolItalianoελληνικάاللغة العربيةBahasa IndonesiaBahasa Malaysiaहिन्दीDeutschFrançaisPortuguêsУкраїнськаPolski中文繁體中文日本語Tiếng ViệtAzərbaycan DiliՀայոց լեզուภาษาไทยTürk Diliქართველიবাংলাپښتوతెలుగుاردو한국어SrpskiБългарски