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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

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

3

Three novel mutations in the PORCN gene underlying focal dermal hypoplasia

P Leoyklang, K Suphapeetiporn, S Wananukul, V Shotelersuk

Journal:

Clinical Genetics

Year:

2008

Language:

english

File:

PDF, 430 KB

english, 2008

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

Preoperative radiation in large angiomatosis of the breast, attempting breast conserving surgery: multidisciplinary approach

Chulakadabba, A, Denariyakoon, S, Chakkabat, P, Shotelersuk, K, Sampatanukul, P, Boonjunwetwat, D, Chatamra, K

Journal:

Journal of Surgical Case Reports

Year:

2018

Language:

english

File:

PDF, 598 KB

english, 2018

6

Novel compound heterozygous mutations in KREMEN1 confirm it as a disease gene for ectodermal dysplasia

Intarak, N., Theerapanon, T., Srijunbarl, A., Suphapeetiporn, K., Porntaveetus, T., Shotelersuk, V.

Journal:

British Journal of Dermatology

Year:

2018

Language:

english

File:

PDF, 1.63 MB

english, 2018

7

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

8

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

9

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

10

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

11

Normal brain myelination in a patient homozygous for a mutation that encodes a severely truncated methionine adenosyltransferase I/III

Hazelwood, Senator, Bernardini, Isa, Shotelersuk, Vorasuk, Tangerman, Albert, Guo, Juanru, Mudd, Harvey, Gahl, William A.

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 110 KB

english, 1998

12

CTNS mutations in patients with cystinosis

Yair Anikster, Vorasuk Shotelersuk, William A. Gahl

Journal:

Year:

1999

Language:

english

File:

PDF, 210 KB

english, 1999

13

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

14

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

15

Postnatal growth failure, microcephaly, mental retardation, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy

Vorasuk Shotelersuk, Tayard Desudchit, Nitaya Suwanwela

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 244 KB

english, 2003

16

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

17

Three novel mutations of the IRF6 gene with one associated with an unusual feature in Van der Woude syndrome

Patra Yeetong, Charan Mahatumarat, Pichit Siriwan, Nond Rojvachiranonda, Kanya Suphapeetiporn, Vorasuk Shotelersuk

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 155 KB

english, 2009

18

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

19

Polymeric immunoglobulin receptor polymorphisms and risk of nasopharyngeal cancer

Rungnapa Hirunsatit, Narisorn Kongruttanachok, Kanjana Shotelersuk, Pakpoom Supiyaphun, Narin Voravud, Anavaj Sakuntabhai, Apiwat Mutirangura

Journal:

Year:

2003

Language:

english

File:

PDF, 688 KB

english, 2003

20

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

21

Prenatal exclusion of subtelomeric deletion 1p by fluorescent in situ hybridization

Vorapong Phupong, Verayuth Praphanphoj, Vorasuk Shotelersuk

Journal:

Archives of Gynecology and Obstetrics

Year:

2007

Language:

english

File:

PDF, 258 KB

english, 2007

22

Bilateral pheochromocytoma during the postpartum period

Lalita Wattanachanya, Udomsak Bunworasate, Wanee Plengpanich, Natnicha Houngngam, Patinut Buranasupkajorn, Sarat Sunthornyothin, Vorasuk Shotelersuk, Thiti Snabboon

Journal:

Archives of Gynecology and Obstetrics

Year:

2009

Language:

english

File:

PDF, 279 KB

english, 2009

23

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

24

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

25

Concurrent bilateral pheochromocytoma and thoracic paraganglioma during pregnancy

Thiti Snabboon, Wanee Plengpanich, Natnicha Houngngam, Patinut Buranasupkajorn, Nattachet Plengvidhya, Wisan Sereepapong, Sarat Sunthornyothin, Vorasuk Shotelersuk

Journal:

Endocrine (Springer)

Year:

2010

Language:

english

File:

PDF, 249 KB

english, 2010

26

Two siblings with a novel nonsense mutation, p.R50X, in thevitamin D receptorgene

Vichit Supornsilchai, Yodporn Hiranras, Suttipong Wacharasindhu, Atchara Mahayosnond, Kanya Suphapeetiporn, Vorasuk Shotelersuk

Journal:

Endocrine (Springer)

Year:

2011

Language:

english

File:

PDF, 261 KB

english, 2011

27

Phase III randomized trial comparing LDR and HDR brachytherapy in treatment of cervical carcinoma

Prasert Lertsanguansinchai, Chawalit Lertbutsayanukul, Kanjana Shotelersuk, Chonlakiet Khorprasert, Prayuth Rojpornpradit, Taywin Chottetanaprasith, Apiradee Srisuthep, Sivalee Suriyapee, Chotika Jump

Journal:

International Journal of Radiation Oncology*Biology*Physics

Year:

2004

Language:

english

File:

PDF, 106 KB

english, 2004

28

De novo missense mutation, S541Y, in the p63 gene underlying Rapp–Hodgkin ectodermal dysplasia syndrome

V. Shotelersuk, S. Janklat, P. Siriwan, S. Tongkobpetch

Journal:

Clinical and Experimental Dermatology

Year:

2005

Language:

english

File:

PDF, 231 KB

english, 2005

29

Two novel frameshift mutations of the EBP gene in two unrelated Thai girls with Conradi–Hünermann–Happle syndrome

V. Shotelersuk, S. Tongkobpetch

Journal:

Clinical and Experimental Dermatology

Year:

2005

Language:

english

File:

PDF, 168 KB

english, 2005

30

Expanding clinical spectrum of non-autoimmune hyperthyroidism due to an activating germline mutation, p.M453T, in the thyrotropin receptor gene

Vichit Supornsilchai, Taninee Sahakitrungruang, Nattakarn Wongjitrat, Suttipong Wacharasindhu, Kanya Suphapeetiporn, Vorasuk Shotelersuk

Journal:

Clinical Endocrinology

Year:

2009

Language:

english

File:

PDF, 155 KB

english, 2009

31

Expanding the phenotypic spectrum of Caffey disease

K Suphapeetiporn, S Tongkobpetch, A Mahayosnond, V Shotelersuk

Journal:

Clinical Genetics

Year:

2007

Language:

english

File:

PDF, 246 KB

english, 2007

32

TBX22 mutations are a frequent cause of non-syndromic cleft palate in the Thai population

K Suphapeetiporn, S Tongkobpetch, P Siriwan, V Shotelersuk

Journal:

Clinical Genetics

Year:

2007

Language:

english

File:

PDF, 301 KB

english, 2007

33

Holocarboxylase synthetase deficiency: novel clinical and molecular findings

R Tammachote, S Janklat, S Tongkobpetch, K Suphapeetiporn, V Shotelersuk

Journal:

Clinical Genetics

Year:

2010

Language:

english

File:

PDF, 634 KB

english, 2010

34

SETBP1 mutations in two Thai patients with Schinzel–Giedion syndrome

K Suphapeetiporn, C Srichomthong, V Shotelersuk

Journal:

Clinical Genetics

Year:

2011

Language:

english

File:

PDF, 710 KB

english, 2011

35

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

36

HLA-B* 1502 screening: Time to clinical practice

Chaichon Locharernkul, Vorasuk Shotelersuk, Nattiya Hirankarn

Journal:

Year:

2010

Language:

english

File:

PDF, 279 KB

english, 2010

37

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

38

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

39

Phase II trial of capecitabine plus cisplatin as first-line therapy in patients with metastatic nasopharyngeal cancer

Daniel T. T. Chua, Harry Ho-Yin Yiu, Kasan Seetalarom, Alice Wan-Ying Ng, Johan Kurnianda, Kanjana Shotelersuk, Gopala Krishnan, Ruey-Long Hong, Muh-Hwa Yang, Cheng-Hsu Wang, Wing-Kin Sze, Wai-Tong Ng

Journal:

Year:

2012

Language:

english

File:

PDF, 175 KB

english, 2012

40

Risk factors associated with the occurrence of frontoethmoidal encephalomeningocele

Kanya Suphapeetiporn, Charan Mahatumarat, Nond Rojvachiranonda, Chopiew Taecholarn, Pichit Siriwan, Sumarlee Srivuthana, Vorasuk Shotelersuk

Journal:

European Journal of Paediatric Neurology

Year:

2008

Language:

english

File:

PDF, 680 KB

english, 2008

41

Promoter hypermethylation of CCNA1, RARRES1, and HRASLS3 in nasopharyngeal carcinoma

Pattamawadee Yanatatsaneejit, Thep Chalermchai, Veerachai Kerekhanjanarong, Kanjana Shotelersuk, Pakpoom Supiyaphun, Apiwat Mutirangura, Virote Sriuranpong

Journal:

Year:

2008

Language:

english

File:

PDF, 556 KB

english, 2008

42

Subdural empyema secondary to odontogenic masticator space abscess: Detection by indium-111-labeled white cell scan

Voravan Shotelersuk, Manish Goyal, John N Rauchenstein, Orhan Konez

Journal:

Clinical Imaging

Year:

2001

Language:

english

File:

PDF, 267 KB

english, 2001

43

Human papillomavirus DNA in plasma of patients with cervical cancer

Wichai Pornthanakasem, Kanjana Shotelersuk, Wichai Termrungruanglert, Narin Voravud, Somchai Niruthisard, Apiwat Mutirangura

Journal:

Year:

2001

Language:

english

File:

PDF, 401 KB

english, 2001

44

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

45

Three New Mutations in a Gene Causing Hermansky–Pudlak Syndrome: Clinical Correlations

Vorasuk Shotelersuk, Senator Hazelwood, David Larson, Fumino Iwata, Muriel I. Kaiser-Kupfer, Ernest Kuehl, Isa Bernardini, William A. Gahl

Journal:

Molecular Genetics and Metabolism

Year:

1998

Language:

english

File:

PDF, 1.14 MB

english, 1998

46

Hermansky-Pudlak Syndrome: Models for Intracellular Vesicle Formation

Vorasuk Shotelersuk, William A. Gahl

Journal:

Molecular Genetics and Metabolism

Year:

1998

Language:

english

File:

PDF, 397 KB

english, 1998

47

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

48

Identification of mutations in the SRD5A2 gene in Thai patients with male pseudohermaphroditism

Taninee Sahakitrungruang, Suttipong Wacharasindhu, Patra Yeetong, Thiti Snabboon, Kanya Suphapeetiporn, Vorasuk Shotelersuk

Journal:

Fertility and Sterility

Year:

2008

Language:

english

File:

PDF, 226 KB

english, 2008

49

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

50

Study of the poliovirus receptor related-1 gene in Thai patients with non-syndromic cleft lip with or without cleft palate

S. Tongkobpetch, K. Suphapeetiporn, P. Siriwan, V. Shotelersuk

Journal:

International Journal of Oral & Maxillofacial Surgery

Year:

2008

Language:

english

File:

PDF, 350 KB

english, 2008

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