Vorasuk Shotelersuk: search on Z-Library

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1

Discordance of oral-facial-digital syndrome type 1 in monozygotic twin girls

Shotelersuk, Vorasuk, Tifft, Cynthia J., Vacha, Scott, Peters, Kathryn F., Biesecker, Leslie G.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 589 KB

english, 1999

2

Severe craniofrontonasal syndrome in a male patient mosaic for a novel nonsense mutation in EFNB1

Shotelersuk, Varote, Kamolvisit, Wuttichart, Rojvachiranonda, Nond, Suphapeetiporn, Kanya, Porntaveetus, Thantrira, Shotelersuk, Vorasuk

Journal:

European Journal of Medical Genetics

Year:

2020

File:

PDF, 7.96 MB

2020

3

rs11567842 SNP in SLC13A2 gene associates with hypocitraturia in Thai patients with nephrolithiasis

Udomsilp, Pattarin, Saepoo, Sarawut, Ittiwut, Rungnapa, Shotelersuk, Vorasuk, Dissayabutra, Thasinas, Boonla, Chanchai, Tosukhowong, Piyaratana

Journal:

Genes & Genomics

Year:

2018

Language:

english

File:

PDF, 1.62 MB

english, 2018

4

Identification and Detection of the Common 65-kb Deletion Breakpoint in the Nephropathic Cystinosis Gene (CTNS)

Yair Anikster, Cynthia Lucero, Jeffrey W. Touchman, Marjan Huizing, Geraldine McDowell, Vorasuk Shotelersuk, Eric D. Green, William A. Gahl

Journal:

Molecular Genetics and Metabolism

Year:

1999

Language:

english

File:

PDF, 135 KB

english, 1999

5

A novel mutation in COL1A2 leads to osteogenesis imperfecta/Ehlers-Danlos overlap syndrome with brachydactyly

Budsamongkol, Thunyaporn, Intarak, Narin, Theerapanon, Thanakorn, Yodsanga, Somchai, Porntaveetus, Thantrira, Shotelersuk, Vorasuk

Journal:

Genes & Diseases

Year:

2019

Language:

english

File:

PDF, 3.38 MB

english, 2019

6

Cole-Carpenter syndrome in a patient from Thailand

Porntaveetus, Thantrira, Theerapanon, Thanakorn, Srichomthong, Chalurmpon, Shotelersuk, Vorasuk

Journal:

American Journal of Medical Genetics Part A

Year:

2018

Language:

english

File:

PDF, 1.03 MB

english, 2018

7

On the reported 8p22-p23.1 duplication in Kabuki make-up syndrome (KMS) and its absence in patients with typical KMS

Noriko Miyake, Naoki Harada, Osamu Shimokawa, Hirofumi Ohashi, Kenji Kurosawa, Tadashi Matsumoto, Yoshimitsu Fukushima, Toshiro Nagai, Vorasuk Shotelersuk, Ko-ichiro Yoshiura, Tohru Ohta, Tatsuya Kish

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 194 KB

english, 2004

8

Kabuki syndrome: Report of six Thai children and further phenotypic and genetic delineation

Vorasuk Shotelersuk, Rachaneekorn Punyashthiti, Sumarlee Srivuthana, Suttipong Wacharasindhu

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 236 KB

english, 2002

9

Primary hyperoxaluria type 1 and brachydactyly mental retardation syndrome caused by a novel mutation in AGXT and a terminal deletion of chromosome 2

Rachaneekorn Tammachote, Nelawat Kingsuwannapong, Siraprapa Tongkobpetch, Chalurmpon Srichomthong, Patra Yeetong, Pornchai Kingwatanakul, Carla G. Monico, Kanya Suphapeetiporn, Vorasuk Shotelersuk

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 231 KB

english, 2012

10

PDGFRa mutations in humans with isolated cleft palate

Rattanasopha, Sawitree, Tongkobpetch, Siraprapa, Srichomthong, Chalurmpon, Siriwan, Pichit, Suphapeetiporn, Kanya, Shotelersuk, Vorasuk

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 503 KB

english, 2012

11

Two novel CTNS mutations in cystinosis patients in Thailand

Patra Yeetong, Siraprapa Tongkobpetch, Pornchai Kingwatanakul, Tawatchai Deekajorndech, Isa M. Bernardini, Kanya Suphapeetiporn, William A. Gahl, Vorasuk Shotelersuk

Journal:

Year:

2012

Language:

english

File:

PDF, 614 KB

english, 2012

12

Variants of the CDH1 (E-Cadherin) Gene Associated with Oral Clefts in the Thai Population

Ittiwut, Rungnapa, Ittiwut, Chupong, Siriwan, Pichit, Chichareon, Vichai, Suphapeetiporn, Kanya, Shotelersuk, Vorasuk

Journal:

Genetic Testing and Molecular Biomarkers

Year:

2016

Language:

english

File:

PDF, 249 KB

english, 2016

13

FGFR1 and FGFR2 Mutations in Pfeiffer Syndrome

Chokdeemboon, Chayanin, Mahatumarat, Charan, Rojvachiranonda, Nond, Tongkobpetch, Siraprapa, Suphapeetiporn, Kanya, Shotelersuk, Vorasuk

Journal:

Journal of Craniofacial Surgery

Year:

2013

Language:

english

File:

PDF, 1016 KB

english, 2013

14

A novel PCCB mutation in a Thai patient with propionic acidemia identified by exome sequencing

Porntaveetus, Thantrira, Srichomthong, Chalurmpon, Suphapeetiporn, Kanya, Shotelersuk, Vorasuk

Journal:

Human Genome Variation

Year:

2015

Language:

english

File:

PDF, 630 KB

english, 2015

15

Two novel compound heterozygousBMP1mutations in a patient with osteogenesis imperfecta: a case report

Sangsin, Apiruk, Kuptanon, Chulaluck, Srichomthong, Chalurmpon, Pongpanich, Monnat, Suphapeetiporn, Kanya, Shotelersuk, Vorasuk

Journal:

BMC Medical Genetics

Year:

2017

Language:

english

File:

PDF, 716 KB

english, 2017

16

Congenital myasthenic syndromes in the Thai population: Clinical findings and novel mutations

Pattrakornkul, Nalinee, Ittiwut, Chupong, Boonsimma, Ponghatai, Boonyapisit, Kanokwan, Khongkhatithum, Chaiyos, Sanmaneechai, Oranee, Suphapeetiporn, Kanya, Shotelersuk, Vorasuk

Journal:

Neuromuscular Disorders

Year:

2020

File:

PDF, 837 KB

2020

17

Tetralogy of Fallot with absent pulmonary valve in a de novo derivative chromosome 9 with duplication of 9p13 → 9pter and deletion of 9q34.3

Montakarn Tansatit, Narisorn Kongruttanachok, Walaiwan Kongnak, Suparp Arunpan, Pikul Maneeshote, Vanida Buasorn, Verayuth Praphanphoj, Vorasuk Shotelersuk

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 270 KB

english, 2006

18

HLAreporter: a tool for HLA typing from next generation sequencing data

Huang, Yazhi, Yang, Jing, Ying, Dingge, Zhang, Yan, Shotelersuk, Vorasuk, Hirankarn, Nattiya, Sham, Pak Chung, Lau, Yu Lung, Yang, Wanling

Journal:

Genome Medicine

Year:

2015

Language:

english

File:

PDF, 1.15 MB

english, 2015

19

Expressions of mammaglobins A and B are not different between nasal polyps with and without allergic rhinitis

Saengpanich, Supinda, Phannaso, Chuntima, Tongkobpetch, Siraprapa, Aeumjaturapat, Songklot, Poovorawan, Yong, Suphapeetiporn, Kanya, Shotelersuk, Vorasuk

Journal:

World Allergy Organization Journal

Year:

2007

Language:

english

File:

PDF, 135 KB

english, 2007

20

Hermansky-Pudlak Syndrome (HPS) as a Genetically Heterogeneous Disease: Clinical, Molecular, and Cell Biological Aspects

Gahl, William A, Shotelersuk, Vorasuk, Brantly, Mark, Huizing, Marjan, Dell'Angelica, Esteban C, Bonifacino, Juan S

Journal:

Pediatric Research

Year:

1999

File:

PDF, 70 KB

1999

21

Massive parallel sequencing as a new diagnostic approach for phenylketonuria and tetrahydrobiopterin-deficiency in Thailand

Chaiyasap, Pongsathorn, Ittiwut, Chupong, Srichomthong, Chalurmpon, Sangsin, Apiruk, Suphapeetiporn, Kanya, Shotelersuk, Vorasuk

Journal:

BMC Medical Genetics

Year:

2017

Language:

english

File:

PDF, 931 KB

english, 2017

22

TTTCA repeat insertions in an intron of YEATS2 in benign adult familial myoclonic epilepsy type 4

Yeetong, Patra, Pongpanich, Monnat, Srichomthong, Chalurmpon, Assawapitaksakul, Adjima, Shotelersuk, Varote, Tantirukdham, Nithiphut, Chunharas, Chaipat, Suphapeetiporn, Kanya, Shotelersuk, Vorasuk

Journal:

Year:

2019

Language:

english

File:

PDF, 572 KB

english, 2019

23

Tooth ultrastructure of a novel COL1A2 mutation expanding its genotypic and phenotypic spectra

Intarak, Narin, Budsamongkol, Thunyaporn, Theerapanon, Thanakorn, Chanamuangkon, Theerapat, Srijunbarl, Anucharte, Boonprakong, Lawan, Porntaveetus, Thantrira, Shotelersuk, Vorasuk

Journal:

Year:

2020

File:

PDF, 2.33 MB

2020

24

Distinct craniofacial-skeletal-dermatological dysplasia in a patient with W290C mutation in FGFR2

Vorasuk Shotelersuk, Chupong Ittiwut, Sumarlee Srivuthana, Charan Mahatumarat, Sukalaya Lerdlum, Suthipong Wacharasindhu

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 166 KB

english, 2002

25

Heterozygous nonsense mutation SATB2 associated with cleft palate, osteoporosis, and cognitive defects

Petcharat Leoyklang, Kanya Suphapeetiporn, Pichit Siriwan, Tayard Desudchit, Pattraporn Chaowanapanja, William A Gahl, Vorasuk Shotelersuk

Journal:

Year:

2007

Language:

english

File:

PDF, 358 KB

english, 2007

26

Carbamazepine and phenytoin induced Stevens-Johnson syndrome is associated with HLA-B*1502 allele in Thai population

Chaichon Locharernkul, Jakrin Loplumlert, Chusak Limotai, Wiwat Korkij, Tayard Desudchit, Siraprapa Tongkobpetch, Oratai Kangwanshiratada, Nattiya Hirankarn, Kanya Suphapeetiporn, Vorasuk Shotelersuk

Journal:

Year:

2008

Language:

english

File:

PDF, 66 KB

english, 2008

27

In vitro Correction of a Novel Splicing Alteration in theBTKGene by Using Antisense Morpholino Oligonucleotides

Rattanachartnarong, Natthakorn, Tongkobpetch, Siraprapa, Chatchatee, Pantipa, Daengsuwan, Tassalapa, Ittiwut, Chupong, Suphapeetiporn, Kanya, Shotelersuk, Vorasuk

Journal:

Archivum Immunologiae et Therapiae Experimentalis

Year:

2014

Language:

english

File:

PDF, 698 KB

english, 2014

28

Novel mutations of the SRD5A2 and AR genes in Thai patients with 46, XY disorders of sex development

Ittiwut, Chupong, Pratuangdejkul, Jaturong, Supornsilchai, Vichit, Muensri, Sasipa, Hiranras, Yodporn, Sahakitrungruang, Taninee, Watcharasindhu, Suttipong, Suphapeetiporn, Kanya, Shotelersuk, Vorasuk

Journal:

Journal of Pediatric Endocrinology and Metabolism

Year:

2017

Language:

english

File:

PDF, 3.14 MB

english, 2017

29

Breakpoint Identification, Detection and Frequency of the 65-kb Deletion in the Cystinosis Gene, CTNS

Anikster, Yair, Lucero, Cynthia, Touchman, Jeffrey W, Huizing, Marjan, McDowel, Geraldine, Shotelersuk, Vorasuk, Green, Eric D, Gahl, William A

Journal:

Pediatric Research

Year:

1999

File:

PDF, 70 KB

1999

30

CTNS mutations in patients with cystinosis

Yair Anikster, Vorasuk Shotelersuk, William A. Gahl

Journal:

Year:

1999

Language:

english

File:

PDF, 210 KB

english, 1999

31

Prenatal diagnosis of Pompe disease by electron microscopy

Vorapong Phupong, Shanop Shuangshoti, Piriya Sutthiruangwong, Supang Maneesri, Penpan Nuayboonma, Vorasuk Shotelersuk

Journal:

Archives of Gynecology and Obstetrics

Year:

2005

Language:

english

File:

PDF, 239 KB

english, 2005

32

MSX1mutations contribute to nonsyndromic cleft lip in a Thai population

Siraprapa Tongkobpetch, Pichit Siriwan, Vorasuk Shotelersuk

Journal:

Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 229 KB

english, 2006

33

NovelCYP11B2mutation causing aldosterone synthase (P450c11AS) deficiency

Klomchan, Tippayakarn, Supornsilchai, Vichit, Wacharasindhu, Suttipong, Shotelersuk, Vorasuk, Sahakitrungruang, Taninee

Journal:

European Journal of Pediatrics

Year:

2012

Language:

english

File:

PDF, 166 KB

english, 2012

34

Germline and Somatic DICER1 Mutations in a Pituitary Blastoma Causing Infantile-Onset Cushing's Disease

Sahakitrungruang, Taninee, Srichomthong, Chalurmpon, Pornkunwilai, Sopon, Amornfa, Jiraporn, Shuangshoti, Shanop, Kulawonganunchai, Supasak, Suphapeetiporn, Kanya, Shotelersuk, Vorasuk

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2014

Language:

english

File:

PDF, 236 KB

english, 2014

35

Mutation analysis and prenatal diagnosis of a family with Griscelli syndrome type 2: two novel mutations in the RAB27A gene

Yeetong, Patra, Suphapeetiporn, Kanya, Shotelersuk, Vorasuk

Journal:

World Journal of Pediatrics

Year:

2017

Language:

english

File:

PDF, 474 KB

english, 2017

36

An Economic Evaluation of Neonatal Screening for Inborn Errors of Metabolism Using Tandem Mass Spectrometry in Thailand

Thiboonboon, Kittiphong, Leelahavarong, Pattara, Wattanasirichaigoon, Duangrurdee, Vatanavicharn, Nithiwat, Wasant, Pornswan, Shotelersuk, Vorasuk, Pangkanon, Suthipong, Kuptanon, Chulaluck, Chaisomch

Journal:

Year:

2015

Language:

english

File:

PDF, 1.59 MB

english, 2015

37

CTNS Mutations in African American Patients with Cystinosis

Robert Kleta, Yair Anikster, Cynthia Lucero, Vorasuk Shotelersuk, Marjan Huizing, Isa Bernardini, Margaret Park, Jess Thoene, Jerry Schneider, William A. Gahl

Journal:

Molecular Genetics and Metabolism

Year:

2001

Language:

english

File:

PDF, 282 KB

english, 2001

38

A novel mutation, 1234del(C), of the IRF6 in a Thai family with Van der Woude syndrome

Shotelersuk, Vorasuk, Srichomthong, Chalurmpon, Yoshiura, Koh-Ichiro, Niikawa, Norio

Journal:

International Journal of Molecular Medicine

Year:

2003

Language:

english

File:

PDF, 712 KB

english, 2003

39

Whole exome sequencing revealed mutations in FBXL4, UNC80, and ADKin Thai patients with severe intellectual disabilities

Kuptanon, Chulaluck, Srichomthong, Chalurmpon, Ittiwut, Chupong, Wechapinan, Thanin, Sri-Udomkajorn, Somjit, Iamopas, Orawan, Phokaew, Chureerat, Suphapeetiporn, Kanya, Shotelersuk, Vorasuk

Journal:

Year:

2019

Language:

english

File:

PDF, 3.96 MB

english, 2019

40

Identification of two novelaquaporin-2mutations in a Thai girl with congenital nephrogenic diabetes insipidus

Taninee Sahakitrungruang, Suttipong Wacharasindhu, Thivaratana Sinthuwiwat, Vichit Supornsilchai, Kanya Suphapeetiporn, Vorasuk Shotelersuk

Journal:

Endocrine (Springer)

Year:

2008

Language:

english

File:

PDF, 275 KB

english, 2008

41

A new variant of Hermansky-Pudlak syndrome due to mutations in a gene responsible for vesicle formation

Vorasuk Shotelersuk, Esteban C Dell’Angelica, Lisa Hartnell, Juan S Bonifacino, William A Gahl

Journal:

The American Journal of Medicine

Year:

2000

Language:

english

File:

PDF, 242 KB

english, 2000

42

FOXE1 mutations in Thai patients with oral clefts

SRICHOMTHONG, CHALURMPON, ITTIWUT, RUNGNAPA, SIRIWAN, PICHIT, SUPHAPEETIPORN, KANYA, SHOTELERSUK, VORASUK

Journal:

Genetics Research

Year:

2013

Language:

english

File:

PDF, 164 KB

english, 2013

43

Dental Properties, Ultrastructure, and Pulp Cells Associated With a Novel DSPP Mutation

Porntaveetus, Thantrira, Osathanon, Thanaphum, Nowwarote, Nunthawan, Pavasant, Prasit, Srichomthong, Chalurmpon, Suphapeetiporn, Kanya, Shotelersuk, Vorasuk

Journal:

Year:

2017

Language:

english

File:

PDF, 1.05 MB

english, 2017

44

Clinical and molecular characteristics of Thai patients with ELANE- related neutropaenia

Ittiwut, Rungnapa, Sengpanich, Kunlapat, Lauhasurayotin, Supanun, Ittiwut, Chupong, Shotelersuk, Vorasuk, Sosothikul, Darintr, Suphapeetiporn, Kanya

Journal:

Journal of Clinical Pathology

Year:

2020

File:

PDF, 1.16 MB

2020

45

Novel mutations in a Thai patient with methylmalonic acidemia

Voraratt Champattanachai, James R Ketudat Cairns, Vorasuk Shotelersuk, Siriporn Keeratichamroen, Phannee Sawangareetrakul, Chantragan Srisomsap, Verachai Kaewpaluek, Jisnuson Svasti

Journal:

Molecular Genetics and Metabolism

Year:

2003

Language:

english

File:

PDF, 85 KB

english, 2003

46

ASA E382K disrupts a potential exonic splicing enhancer and causes exon skipping, but missense mutations in ASA are not associated with ESEs.

Shotelersuk, Vorasuk, Desudchit, Tayard, Tongkobpetch, Siraprapa

Journal:

International Journal of Molecular Medicine

Year:

2004

Language:

english

File:

PDF, 1.65 MB

english, 2004

47

Down syndrome in diverse populations

Kruszka, Paul, Porras, Antonio R., Sobering, Andrew K., Ikolo, Felicia A., La Qua, Samantha, Shotelersuk, Vorasuk, Chung, Brian H. Y., Mok, Gary T. K., Uwineza, Annette, Mutesa, Leon, Moresco, Angélic

Journal:

American Journal of Medical Genetics Part A

Year:

2017

Language:

english

File:

PDF, 2.73 MB

english, 2017

48

Human asparagine synthetase associates with the mitotic spindle

Noree, Chalongrat, Monfort, Elena, Shotelersuk, Vorasuk

Journal:

Year:

2018

Language:

english

File:

PDF, 4.24 MB

english, 2018

49

A Novel GNAS Mutation Causing Isolated Infantile Cushing’s Syndrome

Dejkhamron, Prapai, Ittiwut, Chupong, TangNgam, Hataitip, Sunkonkit, Kanokkarn, Natesirinilkul, Rungrote, Suphapeetiporn, Kanya, Shotelersuk, Vorasuk

Journal:

Hormone Research in Paediatrics

Year:

2019

File:

PDF, 418 KB

2019

50

Novel AQP2 mutation causing congenital nephrogenic diabetes insipidus: challenges in management during infancy

Rugpolmuang, Rottanat, Deeb, Asma, Hassan, Yousef, Deekajorndech, Tawatchai, Shotelersuk, Vorasuk, Sahakitrungruang, Taninee

Journal:

Journal of Pediatric Endocrinology and Metabolism

Year:

2014

Language:

english

File:

PDF, 741 KB

english, 2014

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