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

بواسطة Piranit N. Kantaputra, Pranoot Tanpaiboon
منشور في 2018

Genetic regulatory pathways of split-hand/foot malformation

بواسطة Piranit N. Kantaputra, Bruce M. Carlson
منشور في 2018

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

بواسطة Piranit N. Kantaputra, Stefan Mundlos, Warissara Sripathomsawat
منشور في 2018

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

بواسطة Piranit N. Kantaputra, Oranart Matangkasombut, Warissara Sripathomsawat
منشور في 2018

A newly recognized polyosteolysis/hyperostosis syndrome

بواسطة Piranit N. Kantaputra, Chanin Limwongse, Ajchara Koolvisoot, Apichart Ausawamongkolkul, Somsiri Tayavitit
منشور في 2018

Obesity Syndrome, MOMES caused by deletion-duplication (4q35.1 del and 5p14.3 dup)

بواسطة Mieke M. Van Haelst, Rubin Wang, Piranit N. Kantaputra, Rodger Palmer, Philip Beales
منشور في 2018

Obesity Syndrome, MOMES caused by deletion-duplication (4q35.1 del and 5p14.3 dup)

بواسطة Mieke M. Van Haelst, Rubin Wang, Piranit N. Kantaputra, Rodger Palmer, Philip Beales
منشور في 2018

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))

بواسطة Mieke M. Van Haelst, Rubin Wang, Piranit N. Kantaputra, Rodger Palmer, Philip Beales
منشور في 2018

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

بواسطة Piranit N. Kantaputra, Chanin Limwongse, Chintana Tochareontanaphol, Apiwat Mutirangura, Umnat Mevatee, Verayuth Praphanphoj
منشور في 2018

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

بواسطة Piranit N. Kantaputra, Chanin Limwongse, Chintana Tochareontanaphol, Apiwat Mutirangura, Umnat Mevatee, Verayuth Praphanphoj
منشور في 2018

ΔNp63 knockdown mice: A mouse model for AEC syndrome

بواسطة Maranke I. Koster, Barbara Marinari, Aimee S. Payne, Piranit N. Kantaputra, Antonio Costanzo, Dennis R. Roop
منشور في 2018

ΔNp63 knockdown mice: A mouse model for AEC syndrome

بواسطة Maranke I. Koster, Barbara Marinari, Aimee S. Payne, Piranit N. Kantaputra, Antonio Costanzo, Dennis R. Roop
منشور في 2018

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

بواسطة Piranit N. Kantaputra, Sutti Malaivijitnond, Alexandre R. Vieira, Jan Heering, Volker Dötsch, Theerapong Khankasikum, Warissara Sripathomsawat
منشور في 2018

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

بواسطة Piranit N. Kantaputra, Eva Klopocki, Bianca P. Hennig, Verayuth Praphanphoj, Cédric Le Caignec, Bertrand Isidor, Mei L. Kwee, Deborah J. Shears, Stefan Mundlos
منشور في 2018

ADAMTSL1 and mandibular prognathism

بواسطة Piranit N. Kantaputra, Apitchaya Pruksametanan, Nattapol Phondee, Athiwat Hutsadaloi, Worrachet Intachai, Katsushig Kawasaki, Atsushi Ohazama, Chumpol Ngamphiw, Sissades Tongsima, James R. Ketudat Cairns, Polbhat Tripuwabhrut
منشور في 2019

Oral manifestations in patients and dogs with mucopolysaccharidosis Type VII

بواسطة Piranit N. Kantaputra, Lachlan J. Smith, Margret L. Casal, Chulaluck Kuptanon, Yu Cheng Chang, Sheela Nampoothiri, Apichai Paiyarom, Thanat Veerasakulwong, Objoon Trachoo, James R. Ketudat Cairns, Wannapa Chinadet, Pranoot Tanpaiboon
منشور في 2019

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

بواسطة Lord J.J. Gowans, Sophia Cameron-Christie, Rebecca L. Slayton, Tamara Busch, Miguel Romero-Bustillos, Steven Eliason, Mason Sweat, Nara Sobreira, Wenjie Yu, Piranit N. Kantaputra, Elizabeth Wohler, Wasiu Lanre Adeyemo, Salil A. Lachke, Deepti Anand, Collen Campbell, Bernadette K. Drummond, David M. Markie, W. Jansen van Vuuren, L. Jansen van Vuuren, Paul S. Casamassimo, Ronald Ettinger, Arwa Owais, I. van Staden, Brad A. Amendt, Adebowale A. Adeyemo, Jeffrey C. Murray, Stephen P. Robertson, Azeez Butali
منشور في 2020