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

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)

بواسطة Judith G. Hall, Piranit Nik Kantaputra, Pranoot Tanpaiboon
منشور في 2018

Two novel EBP mutations in Conradi-Hünermann-Happle syndrome

بواسطة Surasawadee Ausavarat, Pranoot Tanpaiboon, Siraprapa Tongkobpetch, Kanya Suphapeetiporn, Vorasuk Shotelersuk
منشور في 2018

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

بواسطة Pranoot Tanpaiboon, Rekwan Sittiwangkul, Prapai Dejkhamron, Metawee Srikummool, Warissara Sripathomsawat, Piranit Kantaputra
منشور في 2018

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

بواسطة Pranoot Tanpaiboon, Rekwan Sittiwangkul, Prapai Dejkhamron, Metawee Srikummool, Warissara Sripathomsawat, Piranit Kantaputra
منشور في 2018

Isolated methylmalonic acidemia with unusual presentation mimicking diabetic ketoacidosis

بواسطة Prapai Dejkhamron, Karn Wejapikul, Kevalee Unachak, Phannee Sawangareetrakul, Pranoot Tanpaiboon, Duangrurdee Wattanasirichaigoon
منشور في 2018

Isolated methylmalonic acidemia with unusual presentation mimicking diabetic ketoacidosis

بواسطة Prapai Dejkhamron, Karn Wejapikul, Kevalee Unachak, Phannee Sawangareetrakul, Pranoot Tanpaiboon, Duangrurdee Wattanasirichaigoon
منشور في 2018

Thyroid functions in children with Down's syndrome

بواسطة Kevalee Unachak, Pranoot Tanpaiboon, Yupada Pongprot, Rekwan Sittivangkul, Suchaya Silvilairat, Prapai Dejkhamron, Jutamas Sudasna
منشور في 2018

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

بواسطة Warissara Sripathomsawat, Pranoot Tanpaiboon, Jan Heering, Volker Dötsch, Raoul C M Hennekam, Piranit Kantaputra
منشور في 2018

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

بواسطة Piranit Kantaputra, Pranoot Tanpaiboon, Thantrira Porntaveetus, Atsushi Ohazama, Paul Sharpe, Anita Rauch, Atiwat Hussadaloy, Christian T. Thiel
منشور في 2018

Oral manifestations of 17 patients affected with mucopolysaccharidosis type VI

بواسطة Piranit Nik Kantaputra, Hülya Kayserili, Yeliz Güven, Warissara Kantaputra, Mehmet C. Balci, Pranoot Tanpaiboon, Anusha Uttarilli, Ashwin Dalal
منشور في 2018

Oral manifestations of 17 patients affected with mucopolysaccharidosis type VI

بواسطة Piranit Nik Kantaputra, Hülya Kayserili, Yeliz Güven, Warissara Kantaputra, Mehmet C. Balci, Pranoot Tanpaiboon, Anusha Uttarilli, Ashwin Dalal
منشور في 2018

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

بواسطة Piranit Nik Kantaputra, Hulya Kayserili, Yeliz Guven, Warissara Kantaputra, Mehmet C. Balci, Pranoot Tanpaiboon, Napaporn Tananuvat, Anusha Uttarilli, Ashwin Dalal
منشور في 2018

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

بواسطة Piranit Nik Kantaputra, Hulya Kayserili, Yeliz Guven, Warissara Kantaputra, Mehmet C. Balci, Pranoot Tanpaiboon, Napaporn Tananuvat, Anusha Uttarilli, Ashwin Dalal
منشور في 2018

Decreasing activity and altered protein processing of human iduronate-2-sulfatase mutations demonstrated by expression in COS7 cells

بواسطة Ratana Charoenwattanasatien, James R Ketudat Cairns, Siriporn Keeratichamroen, Phannee Sawangareetrakul, Pranoot Tanpaiboon, Duangrurdee Wattanasirichaigoon, Suthipong Pangkanon, Jisnuson Svasti, Voraratt Champattanachai
منشور في 2018

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

Infantile onset Sandhoff disease: clinical manifestation and a novel common mutation in Thai patients

بواسطة Thipwimol Tim-Aroon, Khunton Wichajarn, Kamornwan Katanyuwong, Pranoot Tanpaiboon, Nithiwat Vatanavicharn, Kullasate Sakpichaisakul, Arthaporn Kongkrapan, Jakris Eu-ahsunthornwattana, Supranee Thongpradit, Kanya Moolsuwan, Nusara Satproedprai, Surakameth Mahasirimongkol, Tassanee Lerksuthirat, Bhoom Suktitipat, Natini Jinawath, Duangrurdee Wattanasirichaigoon
منشور في 2022

Loss of function in ROBO1 is associated with tetralogy of Fallot and septal defects

بواسطة Paul Kruszka, Pranoot Tanpaiboon, Katherine Neas, Kathleen Crosby, Seth I. Berger, Ariel F. Martinez, Yonit A. Addissie, Yupada Pongprot, Rekwan Sittiwangkul, Suchaya Silvilairat, Krit Makonkawkeyoon, Lan Yu, Julia Wynn, James T. Bennett, Heather C. Mefford, William T. Reynolds, Xiaoqin Liu, Mathilda T.M. Mommersteeg, Wendy K. Chung, Cecilia W. Lo, Maximilian Muenke
منشور في 2018

Loss of function in ROBO1 is associated with tetralogy of Fallot and septal defects

بواسطة Paul Kruszka, Pranoot Tanpaiboon, Katherine Neas, Kathleen Crosby, Seth I. Berger, Ariel F. Martinez, Yonit A. Addissie, Yupada Pongprot, Rekwan Sittiwangkul, Suchaya Silvilairat, Krit Makonkawkeyoon, Lan Yu, Julia Wynn, James T. Bennett, Heather C. Mefford, William T. Reynolds, Xiaoqin Liu, Mathilda T.M. Mommersteeg, Wendy K. Chung, Cecilia W. Lo, Maximilian Muenke
منشور في 2018

Noonan syndrome in diverse populations

بواسطة Paul Kruszka, Antonio R. Porras, Yonit A. Addissie, Angélica Moresco, Sofia Medrano, Gary T.K. Mok, Gordon K.C. Leung, Cedrik Tekendo-Ngongang, Annette Uwineza, Meow Keong Thong, Premala Muthukumarasamy, Engela Honey, Ekanem N. Ekure, Ogochukwu J. Sokunbi, Nnenna Kalu, Kelly L. Jones, Julie D. Kaplan, Omar A. Abdul-Rahman, Lisa M. Vincent, Amber Love, Khadija Belhassan, Karim Ouldim, Ihssane El Bouchikhi, Anju Shukla, Katta M. Girisha, Siddaramappa J. Patil, Nirmala D. Sirisena, Vajira H.W. Dissanayake, C. Sampath Paththinige, Rupesh Mishra, Eva Klein-Zighelboim, Bertha E. Gallardo Jugo, Miguel Chávez Pastor, Hugo H. Abarca-Barriga, Steven A. Skinner, Eloise J. Prijoles, Eben Badoe, Ashleigh D. Gill, Vorasuk Shotelersuk, Patroula Smpokou, Monisha S. Kisling, Carlos R. Ferreira, Leon Mutesa, Andre Megarbane, Antonie D. Kline, Amy Kimball, Emmy Okello, Peter Lwabi, Twalib Aliku, Emmanuel Tenywa, Nonglak Boonchooduang, Pranoot Tanpaiboon, Antonio Richieri-Costa, Ambroise Wonkam, Brian H.Y. Chung, Roger E. Stevenson, Marshall Summar, Kausik Mandal, Shubha R. Phadke, María G. Obregon, Marius G. Linguraru, Maximilian Muenke
منشور في 2018