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1

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

2

A discordant of blood glucose analysed by Glucometer and the Central lab method in an infant with Galactosemia

Siripunthana, Sukumarn, Sahakitrungruang, Taninee, Washarasindhu, Suttipong, Suphapeetiporn, Kanya, Supornsilchai, Vichit

Journal:

International Journal of Pediatric Endocrinology

Year:

2013

Language:

english

File:

PDF, 322 KB

english, 2013

3

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

4

Integrated genome-wide Alu methylation and transcriptome profiling analyses reveal novel epigenetic regulatory networks associated with autism spectrum disorder

Saeliw, Thanit, Tangsuwansri, Chayanin, Thongkorn, Surangrat, Chonchaiya, Weerasak, Suphapeetiporn, Kanya, Mutirangura, Apiwat, Tencomnao, Tewin, Hu, Valerie W., Sarachana, Tewarit

Journal:

Molecular Autism

Year:

2018

Language:

english

File:

PDF, 2.84 MB

english, 2018

5

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

6

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

7

MEN1 tumor-suppressor protein localizes to telomeres during meiosis

Kanya Suphapeetiporn, John M. Greally, Deepika Walpita, Terry Ashley, Allen E. Bale

Journal:

Genes, Chromosomes and Cancer

Year:

2002

Language:

english

File:

PDF, 810 KB

english, 2002

8

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

9

PTPRFis disrupted in a patient with syndromic amastia

Surasawadee Ausavarat, Siraprapa Tongkobpetch, Verayuth Praphanphoj, Charan Mahatumarat, Nond Rojvachiranonda, Thiti Snabboon, Thomas C Markello, William A Gahl, Kanya Suphapeetiporn, Vorasuk Shoteler

Journal:

BMC Medical Genetics

Year:

2011

Language:

english

File:

PDF, 960 KB

english, 2011

10

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

11

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

12

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

13

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

14

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

15

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

16

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

17

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

18

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

19

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

20

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

21

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

22

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

23

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

24

ASSOCIATION OF CYTOKINE-RELATED GENE EXPRESSION WITH DENGUE INFECTION SEVERITY

Waidab, W., Suphapeetiporn, K., Srichomthong, C., Tongkobpetch, S., Pancharoen, C., Shotelersuk, V., Thisyakorn, U.

Journal:

Year:

2008

Language:

english

File:

PDF, 235 KB

english, 2008

25

Clinical and Molecular Characteristics of Thai Families with Autosomal Recessive Chronic Granulomatous Disease

Voraphani, N., Chatchatee, P., Ngamphaiboon, J., Tongkobpetch, S., Suphapeetiporn, K., Shotelersuk, V.

Journal:

Journal of Allergy and Clinical Immunology

Year:

2009

Language:

english

File:

PDF, 44 KB

english, 2009

26

Clinical and Molecular Characterization of Thai Patients with Wiskott-Aldrich Syndrome

Amarinthnukrowh, P., Ittiporn, S., Tongkobpetch, S., Chatchatee, P., Sosothikul, D., Shotelersuk, V., Suphapeetiporn, K.

Journal:

Scandinavian Journal of Immunology

Year:

2013

Language:

english

File:

PDF, 137 KB

english, 2013

27

Prenatal diagnosis of a novel mutation, c.529C>T (p.Q177X), in theBCKDHAgene in a family with maple syrup urine disease

Tammachote, R., Tongkobpetch, S., Desudchit, T., Suphapeetiporn, K., Shotelersuk, V.

Journal:

Journal of Inherited Metabolic Disease

Year:

2009

Language:

english

File:

PDF, 111 KB

english, 2009

28

Disorders with similar clinical phenotypes reveal underlying genetic interaction: SATB2 acts as an activator of theUPF3Bgene

Leoyklang, Petcharat, Suphapeetiporn, Kanya, Srichomthong, Chalurmpon, Tongkobpetch, Siraprapa, Fietze, Stefanie, Dorward, Heidi, Cullinane, Andrew R., Gahl, William A., Huizing, Marjan, Shotelersuk,

Journal:

Year:

2013

Language:

english

File:

PDF, 471 KB

english, 2013

29

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

30

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

31

Novel CTSK mutation resulting in an entire exon 2 skipping in a Thai girl with pycnodysostosis

Utokpat, Pattarapa, Panmontha, Wipa, Tongkobpetch, Siraprapa, Suphapeetiporn, Kanya, Shotelersuk, Vorasuk

Journal:

Pediatrics International

Year:

2013

Language:

english

File:

PDF, 673 KB

english, 2013

32

A common and two novel GBA mutations in Thai patients with Gaucher disease

Tammachote, Rachaneekorn, Tongkobpetch, Siraprapa, Srichomthong, Chalurmpon, Phipatthanananti, Kampon, Pungkanon, Suthipong, Wattanasirichaigoon, Duangrurdee, Suphapeetiporn, Kanya, Shotelersuk, Voras

Journal:

Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 1.11 MB

english, 2013

33

p.D645E of Acid α-Glucosidase Is the Most Common Mutation in Thai Patients with Infantile-Onset Pompe Disease

Amarinthnukrowh, Pramuk, Tongkobpetch, Siraprapa, Kongpatanayothin, Apichai, Suphapeetiporn, Kanya, Shotelersuk, Vorasuk

Journal:

Genetic Testing and Molecular Biomarkers

Year:

2010

Language:

english

File:

PDF, 75 KB

english, 2010

34

Two novel mutations including a large deletion of the SLC4A11 gene causing autosomal recessive hereditary endothelial dystrophy

Puangsricharern, V., Yeetong, P., Charumalai, C., Suphapeetiporn, K., Shotelersuk, V.

Journal:

British Journal of Ophthalmology

Year:

2014

Language:

english

File:

PDF, 2.60 MB

english, 2014

35

Prevention of bone loss in children receiving long-term glucocorticoids with calcium and alfacalcidol or menatetrenone

Rianthavorn, Pornpimol, Pisutikul, Kantima, Deekajorndech, Tawatchai, Tepmongkol, Supatporn, Suphapeetiporn, Kanya

Journal:

Journal of Pediatric Endocrinology and Metabolism

Year:

2012

Language:

english

File:

PDF, 405 KB

english, 2012

36

Risk factors for autism spectrum disorder in the Thai population

Khaiman, Chusana, Onnuam, Kanchana, Photchanakaew, Siripraphar, Chonchaiya, Weerasak, Suphapeetiporn, Kanya

Journal:

European Journal of Pediatrics

Year:

2015

Language:

english

File:

PDF, 186 KB

english, 2015

37

Interleukin-10 promoter polymorphisms and expression in Thai children with juvenile systemic lupus erythematosus

Rianthavorn, P., Chokedeemeeboon, C., Deekajorndech, T., Suphapeetiporn, K.

Journal:

Year:

2013

Language:

english

File:

PDF, 115 KB

english, 2013

38

Functional Characterization of Vasopressin Receptor 2 Mutations Causing Partial and Complete Congenital Nephrogenic Diabetes Insipidus in Thai Families

Sahakitrungruang, Taninee, Tee, Meng Kian, Rattanachartnarong, Natthakorn, Shotelersuk, Vorasuk, Suphapeetiporn, Kanya, Miller, Walter L.

Journal:

Hormone Research in Paediatrics

Year:

2010

Language:

english

File:

PDF, 331 KB

english, 2010

39

An exceptionally low percentage of Thai expectant mothers and medical personnel with folic acid knowledge and peri-conceptional consumption urges an urgent education program and/or food fortification

Vilaiphan, Prapaporn, Suphapeetiporn, Kanya, Phupong, Vorapong, Shotelersuk, Vorasuk

Journal:

International Journal of Food Sciences and Nutrition

Year:

2007

Language:

english

File:

PDF, 67 KB

english, 2007

40

A Frameshift Mutation in PEN-2 Causes Familial Comedones Syndrome

Panmontha, Wipa, Rerknimitr, Pawinee, Yeetong, Patra, Srichomthong, Chalurmpon, Suphapeetiporn, Kanya, Shotelersuk, Vorasuk

Journal:

Year:

2015

Language:

english

File:

PDF, 297 KB

english, 2015

41

A newly identified locus for benign adult familial myoclonic epilepsy on chromosome 3q26.32-3q28

Yeetong, Patra, Ausavarat, Surasawadee, Bhidayasiri, Roongroj, Piravej, Krisna, Pasutharnchat, Nath, Desudchit, Tayard, Chunharas, Chaipat, Loplumlert, Jakrin, Limotai, Chusak, Suphapeetiporn, Kanya,

Journal:

European Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 1.99 MB

english, 2013

42

Absent expression of the osteoblast-specific maternally imprinted genes, DLX5 and DLX6, causes split hand/split foot malformation type I

Rattanasopha, S., Tongkobpetch, S., Srichomthong, C., Kitidumrongsook, P., Suphapeetiporn, K., Shotelersuk, V.

Journal:

Journal of Medical Genetics

Year:

2014

Language:

english

File:

PDF, 3.58 MB

english, 2014

43

ZRS 406A>G mutation in patients with tibial hypoplasia, polydactyly and triphalangeal first fingers

Norbnop, Phatchara, Srichomthong, Chalurmpon, Suphapeetiporn, Kanya, Shotelersuk, Vorasuk

Journal:

Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 1.14 MB

english, 2014

44

Pathogenesis of dengue hemorrhagic fever: From immune to genetics

Waidab, Woraman, Suphapeetiporn, Kanya, Thisyakorn, Usa

Journal:

Journal of Pediatric Infectious Diseases

Year:

2015

Language:

english

File:

PDF, 54 KB

english, 2015

45

NUDT15 c.415C>T increases risk of 6-mercaptopurine induced myelosuppression during maintenance therapy in children with acute lymphoblastic leukemia

Chiengthong, K., Ittiwut, C., Muensri, S., Sophonphan, J., Sosothikul, D., Seksan, P., Suppipat, K., Suphapeetiporn, K., Shotelersuk, V.

Journal:

Year:

2016

Language:

english

File:

PDF, 372 KB

english, 2016

46

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

47

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

48

Expression of mammaglobins A and B in nasal polyps is similar in patients with and without allergic rhinitis

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

Journal:

American Journal of Rhinology

Year:

2008

Language:

english

File:

PDF, 592 KB

english, 2008

49

Pharmacogenetic Testing Can Identify Patients Taking Atazanavir at Risk for Hyperbilirubinemia

Avihingsanon, Anchalee, Tongkobpetch, Siraprapa, Kerr, Stephen J., Punyawudho, Baralee, Suphapeetiporn, Kanya, Gorowara, Meena, Ruxrungtham, Kiat, Shotelersuk, Vorasuk

Journal:

JAIDS Journal of Acquired Immune Deficiency Syndromes

Year:

2015

Language:

english

File:

PDF, 64 KB

english, 2015

50

Clinical and molecular characteristics of Thai families with X-linked chronic granulomatous disease

Vilaiphan, Prapaporn, Chatchatee, Pantipa, Ngamphaiboon, Jarungchit, Tongkobpetch, Siraprapa, Suphapeetiporn, Kanya, Shotelersuk, Vorasuk

Journal:

World Allergy Organization Journal

Year:

2007

Language:

english

File:

PDF, 128 KB

english, 2007