Works matching AU Srichomthong, Chalurmpon

Results: 34

Intronic hexanucleotide repeat expansion in TYMS in monozygotic twins with congenital progressive universal melanosis.

Published in:

Biomedical Reports, 2025, v. 23, n. 2, p. N.PAG, doi. 10.3892/br.2025.2016

By:

Kanchanasutthiyakorn, Sunisa;
Chaiyamahapurk, Sakchai;
Tongkobpetch, Siraprapa;
Santawong, Kanokwan;
Srichomthong, Chalurmpon;
Klomchan, Tippayakarn;
Virochsangaroon, Chaiyaporn;
Pongpanich, Monnat;
Warnnissorn, Prateep;
Pongcharoen, Sutatip;
Shotelersuk, Vorasuk

Publication type:

Article

Unraveling the molecular diagnosis of metaphyseal enchondromatosis with D‐2‐hydroxyglutaric aciduria: A 22‐year quest.

Published in:

American Journal of Medical Genetics. Part A, 2024, v. 194, n. 6, p. 1, doi. 10.1002/ajmg.a.63557

By:

Rattanapornsompong, Khanti;
Chetruengchai, Wanna;
Srichomthong, Chalurmpon;
Theerapanon, Thanakorn;
Porntaveetus, Thantrira;
Shotelersuk, Vorasuk

Publication type:

Article

Whole-Exome Sequencing Solved over 2-Decade Kidney Disease Enigma.

Published in:

Nephron, 2021, v. 145, n. 3, p. 311, doi. 10.1159/000514293

By:

Isaranuwatchai, Suramath;
Chanakul, Ankanee;
Ittiwut, Chupong;
Srichomthong, Chalurmpon;
Shotelersuk, Vorasuk;
Praditpornsilpa, Kearkiat;
Suphapeetiporn, Kanya

Publication type:

Article

De novo genome assembly and transcriptome sequencing in foot and mantle tissues of Megaustenia siamensis reveals components of adhesive substances.

Published in:

Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-64425-6

By:

Chetruengchai, Wanna;
Jirapatrasilp, Parin;
Srichomthong, Chalurmpon;
Assawapitaksakul, Adjima;
Pholyotha, Arthit;
Tongkerd, Piyoros;
Shotelersuk, Vorasuk;
Panha, Somsak

Publication type:

Article

A novel BAG5 variant impairs the ER stress response pathway, causing dilated cardiomyopathy and arrhythmia.

Published in:

Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-62764-y

By:

Wongong, Rutairat;
Kijtawornrat, Anusak;
Srichomthong, Chalurmpon;
Tongkobpeth, Siraprapa;
Od-Ek, Phichittra;
Assawapitaksakul, Adjima;
Caengprasath, Natarin;
Khongphatthanayothin, Apichai;
Porntaveetus, Thantrira;
Shotelersuk, Vorasuk

Publication type:

Article

Comprehensive genome assembly reveals genetic diversity and carcass consumption insights in critically endangered Asian king vultures.

Published in:

Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-59990-9

By:

Buthasane, Wannapol;
Shotelersuk, Vorasuk;
Chetruengchai, Wanna;
Srichomthong, Chalurmpon;
Assawapitaksakul, Adjima;
Tangphatsornruang, Sithichoke;
Pootakham, Wirulda;
Sonthirod, Chutima;
Tongsima, Sissades;
Wangkumhang, Pongsakorn;
Wilantho, Alisa;
Thongphakdee, Ampika;
Sanannu, Saowaphang;
Poksawat, Chaianan;
Nipanunt, Tarasak;
Kasorndorkbua, Chaiyan;
Koepfli, Klaus-Peter;
Pukazhenthi, Budhan S.;
Suriyaphol, Prapat;
Wongsurawat, Thidathip

Publication type:

Article

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

Published in:

Journal of Human Genetics, 2014, v. 59, n. 8, p. 467, doi. 10.1038/jhg.2014.50

By:

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

Publication type:

Article

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

Published in:

Journal of Human Genetics, 2013, v. 58, n. 9, p. 594, doi. 10.1038/jhg.2013.60

By:

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

Publication type:

Article

Novel BMP1, CRTAP, and SERPINF1 variants causing autosomal recessive osteogenesis imperfecta.

Published in:

Clinical Genetics, 2022, v. 102, n. 3, p. 242, doi. 10.1111/cge.14172

By:

Kuptanon, Chulaluck;
Thamkunanon, Verasak;
Srichomthong, Chalurmpon;
Theerapanon, Thanakorn;
Suphapeetiporn, Kanya;
Porntaveetus, Thantrira;
Shotelersuk, Vorasuk

Publication type:

Article

The Thai reference exome (T‐REx) variant database.

Published in:

Clinical Genetics, 2021, v. 100, n. 6, p. 703, doi. 10.1111/cge.14060

By:

Shotelersuk, Vorasuk;
Wichadakul, Duangdao;
Ngamphiw, Chumpol;
Srichomthong, Chalurmpon;
Phokaew, Chureerat;
Wilantho, Alisa;
Pakchuen, Sujiraporn;
Nakhonsri, Vorthunju;
Shaw, Philip James;
Wasitthankasem, Rujipat;
Piriyapongsa, Jittima;
Wangkumhang, Pongsakorn;
Assawapitaksakul, Adjima;
Chetruengchai, Wanna;
Lapphra, Keswadee;
Khuninthong, Athiphat;
Makarawate, Pattarapong;
Suphapeetiporn, Kanya;
Mahasirimongkol, Surakameth;
Satproedprai, Nusara

Publication type:

Article

Rapid exome sequencing as the first‐tier investigation for diagnosis of acutely and severely ill children and adults in Thailand.

Published in:

Clinical Genetics, 2021, v. 100, n. 1, p. 100, doi. 10.1111/cge.13963

By:

Kamolvisit, Wuttichart;
Phowthongkum, Prasit;
Boonsimma, Ponghatai;
Kuptanon, Chulaluck;
Rojnueangnit, Kitiwan;
Wattanasirichaigoon, Duangrurdee;
Chanvanichtrakool, Mongkol;
Phuaksaman, Chutima;
Wiromrat, Pattara;
Srichomthong, Chalurmpon;
Ittiwut, Chupong;
Phokaew, Chureerat;
Ittiwut, Rungnapa;
Assawapitaksakul, Adjima;
Chetruengchai, Wanna;
Buasong, Aayalida;
Suphapeetiporn, Kanya;
Shotelersuk, Vorasuk

Publication type:

Article

PDGFRa mutations in humans with isolated cleft palate.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 10, p. 1058, doi. 10.1038/ejhg.2012.55

By:

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

Publication type:

Article

A Frameshift Mutation in PEN-2 Causes Familial Comedones Syndrome.

Published in:

Dermatology (10188665), 2015, v. 231, n. 1, p. 77, doi. 10.1159/000382122

By:

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

Publication type:

Article

Identification and Functional Analysis of Six DAX1 Mutations in Patients With X-Linked Adrenal Hypoplasia Congenita.

Published in:

Journal of the Endocrine Society, 2019, v. 3, n. 1, p. 171, doi. 10.1210/js.2018-00270

By:

Suthiworachai, Chanisara;
Tammachote, Rachaneekorn;
Srichomthong, Chalurmpon;
Ittiwut, Rungnapa;
Suphapeetiporn, Kanya;
Sahakitrungruang, Taninee;
Shotelersuk, Vorasuk

Publication type:

Article

Pathogenic variant detection rate by whole exome sequencing in Thai patients with biopsy-proven focal segmental glomerulosclerosis.

Published in:

Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-022-26291-y

By:

Isaranuwatchai, Suramath;
Chanakul, Ankanee;
Ittiwut, Chupong;
Ittiwut, Rungnapa;
Srichomthong, Chalurmpon;
Shotelersuk, Vorasuk;
Suphapeetiporn, Kanya;
Praditpornsilpa, Kearkiat

Publication type:

Article

A LILRB1 variant with a decreased ability to phosphorylate SHP-1 leads to autoimmune diseases.

Published in:

Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-19334-x

By:

Sinthuwiwat, Thivaratana;
Buranapraditkun, Supranee;
Kamolvisit, Wuttichart;
Tongkobpetch, Siraprapa;
Chetruengchai, Wanna;
Srichomthong, Chalurmpon;
Assawapitaksakul, Adjima;
Phokaew, Chureerat;
Kueanjinda, Patipark;
Palaga, Tanapat;
Boonpiyathad, Tadech;
Suphapeetiporn, Kanya;
Hirankarn, Nattiya;
Shotelersuk, Vorasuk

Publication type:

Article

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

Published in:

2014

By:

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

Publication type:

Journal Article

Four novel mutations of FAM20A in amelogenesis imperfecta type IG and review of literature for its genotype and phenotype spectra.

Published in:

Molecular Genetics & Genomics, 2020, v. 295, n. 4, p. 923, doi. 10.1007/s00438-020-01668-8

By:

Nitayavardhana, Issree;
Theerapanon, Thanakorn;
Srichomthong, Chalurmpon;
Piwluang, Sakkayaphab;
Wichadakul, Duangdao;
Porntaveetus, Thantrira;
Shotelersuk, Vorasuk

Publication type:

Article

MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta.

Published in:

Nature Communications, 2016, v. 7, n. 7, p. 11920, doi. 10.1038/ncomms11920

By:

Lindert, Uschi;
Cabral, Wayne A.;
Ausavarat, Surasawadee;
Tongkobpetch, Siraprapa;
Ludin, Katja;
Barnes, Aileen M.;
Yeetong, Patra;
Weis, Maryann;
Krabichler, Birgit;
Srichomthong, Chalurmpon;
Makareeva, Elena N.;
Janecke, Andreas R.;
Leikin, Sergey;
Röthlisberger, Benno;
Rohrbach, Marianne;
Kennerknecht, Ingo;
Eyre, David R.;
Suphapeetiporn, Kanya;
Giunta, Cecilia;
Marini, Joan C.

Publication type:

Article

Disorders with similar clinical phenotypes reveal underlying genetic interaction: SATB2 acts as an activator of the <i>UPF3B</i> gene.

Published in:

Human Genetics, 2013, v. 132, n. 12, p. 1383, doi. 10.1007/s00439-013-1345-9

By:

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

Publication type:

Article

HLA-B46:01:01:01 and HLA-DRB109:01:02:01 are associated with anti-rHuEPO-induced pure red cell aplasia.

Published in:

Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-50211-3

By:

Suttichet, Thitima Benjachat;
Chamnanphon, Monpat;
Pongpanich, Monnat;
Chokyakorn, Sarun;
Kupatawintu, Pawinee;
Srichomthong, Chalurmpon;
Chetruengchai, Wanna;
Chuntakaruk, Hathaichanok;
Rungrotmongkol, Thanyada;
Chariyavilaskul, Pajaree;
Shotelersuk, Vorasuk;
Praditpornsilpa, Kearkiat

Publication type:

Article

Comparative genomics and genome-wide SNPs of endangered Eld's deer provide breeder selection for inbreeding avoidance.

Published in:

Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-47014-x

By:

Pumpitakkul, Vichayanee;
Chetruengchai, Wanna;
Srichomthong, Chalurmpon;
Phokaew, Chureerat;
Pootakham, Wirulda;
Sonthirod, Chutima;
Nawae, Wanapinun;
Tongsima, Sissades;
Wangkumhang, Pongsakorn;
Wilantho, Alisa;
Utara, Yongchai;
Thongpakdee, Ampika;
Sanannu, Saowaphang;
Maikaew, Umaporn;
Khuntawee, Suphattharaphonnaphan;
Changpetch, Wirongrong;
Phromwat, Phairot;
Raschasin, Kacharin;
Sarnkhaeveerakul, Phunyaphat;
Supapannachart, Pannawat

Publication type:

Article

Cole‐Carpenter syndrome in a patient from Thailand.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 8, p. 1706, doi. 10.1002/ajmg.a.40358

By:

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

Publication type:

Article

Monoallelic FGFR3 and Biallelic ALPL mutations in a Thai girl with hypochondroplasia and hypophosphatasia.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2747, doi. 10.1002/ajmg.a.38370

By:

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

Publication type:

Article

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

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2124, doi. 10.1002/ajmg.a.35495

By:

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

Publication type:

Article

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

Published in:

2019

By:

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

Publication type:

journal article

Whole Genome and Exome Sequencing of Monozygotic Twins with Trisomy 21, Discordant for a Congenital Heart Defect and Epilepsy.

Published in:

PLoS ONE, 2014, v. 9, n. 6, p. 1, doi. 10.1371/journal.pone.0100191

By:

Chaiyasap, Pongsathorn;
Kulawonganunchai, Supasak;
Srichomthong, Chalurmpon;
Tongsima, Sissades;
Suphapeetiporn, Kanya;
Shotelersuk, Vorasuk

Publication type:

Article

The most 5′ truncating homozygous mutation of WNT1 in siblings with osteogenesis imperfecta with a variable degree of brain anomalies: a case report.

Published in:

BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0639-0

By:

Kuptanon, Chulaluck;
Srichomthong, Chalurmpon;
Sangsin, Apiruk;
Kovitvanitcha, Dool;
Suphapeetiporn, Kanya;
Shotelersuk, Vorasuk

Publication type:

Article

Pentanucleotide Repeat Insertions in RAI1 Cause Benign Adult Familial Myoclonic Epilepsy Type 8.

Published in:

Movement Disorders, 2024, v. 39, n. 1, p. 164, doi. 10.1002/mds.29654

By:

Yeetong, Patra;
Dembélé, Mohamed E.;
Pongpanich, Monnat;
Cissé, Lassana;
Srichomthong, Chalurmpon;
Maiga, Alassane B.;
Dembélé, Kékouta;
Assawapitaksakul, Adjima;
Bamba, Salia;
Yalcouyé, Abdoulaye;
Diarra, Salimata;
Mefoung, Samuel Ephrata;
Rakwongkhachon, Supphakorn;
Traoré, Oumou;
Tongkobpetch, Siraprapa;
Fischbeck, Kenneth H.;
Gahl, William A.;
Guinto, Cheick O.;
Shotelersuk, Vorasuk;
Landouré, Guida

Publication type:

Article

Adaptive immune defects in a patient with leukocyte adhesion deficiency type III with a novel mutation in FERMT3.

Published in:

Pediatric Allergy & Immunology, 2016, v. 27, n. 2, p. 214, doi. 10.1111/pai.12485

By:

Suratannon, Narissara;
Yeetong, Patra;
Srichomthong, Chalurmpon;
Amarinthnukrowh, Pramuk;
Chatchatee, Pantipa;
Sosothikul, Darintr;
Hagen, P. Martin;
Burg, Mirjam;
Wentink, Marjolein;
Driessen, Gertjan J.;
Suphapeetiporn, Kanya;
Shotelersuk, Vorasuk

Publication type:

Article

Long-read Amplicon Sequencing of the CYP21A2 in 48 Thai Patients With Steroid 21-Hydroxylase Deficiency.

Published in:

Journal of Clinical Endocrinology & Metabolism, 2022, v. 107, n. 7, p. 1939, doi. 10.1210/clinem/dgac187

By:

Tantirukdham, Nithiphut;
Sahakitrungruang, Taninee;
Chaisiwamongkol, Ratikorn;
Pongpanich, Monnat;
Srichomthong, Chalurmpon;
Assawapitaksakul, Adjima;
Buasong, Aayalida;
Tongkobpetch, Siraprapa;
Yeetong, Patra;
Shotelersuk, Vorasuk

Publication type:

Article

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

Published in:

BMC Medical Genetics, 2017, v. 18, p. 1, doi. 10.1186/s12881-017-0464-x

By:

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

Publication type:

Article

Two novel compound heterozygous BMP1 mutations in a patient with osteogenesis imperfecta: a case report.

Published in:

2017

By:

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

Publication type:

Case Study

Short stature, platyspondyly, hip dysplasia, and retinal detachment: an atypical type II collagenopathy caused by a novel mutation in the C-propeptide region of COL2A1: a case report.

Published in:

2016

By:

Apiruk Sangsin;
Chalurmpon Srichomthong;
Monnat Pongpanich;
Kanya Suphapeetiporn;
Vorasuk Shotelersuk

Publication type:

Case Study