Search Results - "Shotelersuk, V"

A novel PITX2 mutation in non‐syndromic orodental anomalies by Intarak, N, Theerapanon, T, Ittiwut, C, Suphapeetiporn, K, Porntaveetus, T, Shotelersuk, V

“…Objective To identify orodental characteristics and genetic aetiology of a family affected with non‐syndromic orodental anomalies. Subjects and Methods…”
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A novel de novo mutation substantiates KDF1 as a gene causing ectodermal dysplasia by Manaspon, C., Thaweesapphithak, S., Osathanon, T., Suphapeetiporn, K., Porntaveetus, T., Shotelersuk, V.

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A novel GJA1 mutation in oculodentodigital dysplasia with extensive loss of enamel by Porntaveetus, T, Srichomthong, C, Ohazama, A, Suphapeetiporn, K, Shotelersuk, V

“…Objective To characterize clinical features and identify genetic causes of a patient with oculodentodigital dysplasia (ODDD). Subjects and methods Clinical,…”
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Novel compound heterozygous mutations in KREMEN1 confirm it as a disease gene for ectodermal dysplasia by Intarak, N., Theerapanon, T., Srijunbarl, A., Suphapeetiporn, K., Porntaveetus, T., Shotelersuk, V.

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Dental properties, ultrastructure, and pulp cells associated with a novel DSPP mutation by Porntaveetus, T, Osathanon, T, Nowwarote, N, Pavasant, P, Srichomthong, C, Suphapeetiporn, K, Shotelersuk, V

“…Objective To investigate physical characteristics and behaviours of dental pulp cells of teeth isolated from a dentinogenesis imperfecta (DGI) patient with a…”
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Whole genome sequencing identifies a homozygous nonsense mutation in the JPH2 gene in Shih Tzu dogs with progressive retinal atrophy by Urkasemsin, G., Pongpanich, M., Sariya, L., Kongcharoen, A., Buddhirongawatr, R., Rungarunlert, S., Ferreira, J. N., Chetruengchai, W., Phokaew, C., Srichomthong, C., Shotelersuk, V.

“…Summary Progressive retinal atrophy (PRA), common autosomal recessive disorder affecting several dog breeds including Shih Tzu, is characterized by…”
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A mutation of the p63 gene in non-syndromic cleft lip by Leoyklang, P, Siriwan, P, Shotelersuk, V

“…Mutations in the p63 gene (TP63) underlie several monogenic malformation syndromes manifesting cleft lip with or without cleft palate (CL/P). We investigated…”
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SETBP1 mutations in two Thai patients with Schinzel-Giedion syndrome by Suphapeetiporn, K, Srichomthong, C, Shotelersuk, V

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Three novel mutations in the PORCN gene underlying focal dermal hypoplasia by Leoyklang, P, Suphapeetiporn, K, Wananukul, S, Shotelersuk, V

“…Focal dermal hypoplasia (FDH) is an X‐linked dominant disorder characterized by patchy dermal hypoplasia with digital, ocular and dental abnormalities. Very…”
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TBX22 mutations are a frequent cause of non-syndromic cleft palate in the Thai population by Suphapeetiporn, K, Tongkobpetch, S, Siriwan, P, Shotelersuk, V

“…Mutations in the TBX22 gene underlie an X‐linked malformation syndrome with cleft palate (CP) and ankyloglossia. Its mutations also result in non‐syndromic CP…”
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Novel mutations in the FUCA1 gene that cause fucosidosis by Panmontha, W, Amarinthnukrowh, P, Damrongphol, P, Desudchit, T, Suphapeetiporn, K, Shotelersuk, V

“…Fucosidosis is a rare lysosomal storage disorder inherited in an autosomal recessive manner. Its estimated frequency is below 1 in 200,000 live births. Its…”
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Significant association between IRF6 820G→A and non-syndromic cleft lip with or without cleft palate in the Thai population by Srichomthong, C, Siriwan, P, Shotelersuk, V

“…Background: Previous data have shown an association between DNA sequence variants in the IRF6 gene and an increased risk of non-syndromic cleft lip with or…”
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Severe Hyperammonemic Encephalopathy Requiring Dialysis Aggravated by Prolonged Fasting and Intermittent High Fat Load in a Ramadan Fasting Month in a Patient with CPTII Homozygous Mutation by Phowthongkum, P., Ittiwut, C., Shotelersuk, V.

“…Background: Carnitine palmitoyltransferase II (CPTII) deficiency is a mitochondrial fatty acid oxidation disorder that can present antenatally as congenital…”
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Whole-exome sequencing reveals a novel COL2A1 mutation in a patient with spondyloepiphyseal dysplasia congenita by Sangsin, A, Srichomthong, C, Pongpanich, M, Suphapeetiporn, K, Shotelersuk, V

“…Skeletal dysplasia is a group of disorders with more than 450 entities, many of which cannot be differentiated, especially during infancy, but could lead to…”
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NGS for rare diseases by Shotelersuk, V.

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Whole-exome sequencing reveals a novel COL2A1 mutation in a patient with spondylo-epiphyseal dysplasia congenita by Sangsin, A, Srichomthong, C, Pongpanich, M, Suphapeetiporn, K, Shotelersuk, V

“…Skeletal dysplasia is a group of disorders with more than 450 entities, many of which cannot be differentiated, especially during infancy, but could lead to…”
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Pyridoxal 5'-phosphate-responsive epilepsy with novel mutations in the PNPO gene: a case report by Veeravigrom, M, Damrongphol, P, Ittiwut, R, Ittiwut, C, Suphapeetiporn, K, Shotelersuk, V

“…Pyridoxal 5'-phosphate (PLP)-responsive epilepsy is a rare autosomal recessive epileptic disorder caused by deficiency of pyridox(am)-ne 5'-phosphate oxidase…”
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Maternal 677CT/1298AC genotype of the MTHFR gene as a risk factor for cleft lip by Shotelersuk, V, Ittiwut, C, Siriwan, P, Angspatt, A

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Holocarboxylase synthetase deficiency: novel clinical and molecular findings by Tammachote, R, Janklat, S, Tongkobpetch, S, Suphapeetiporn, K, Shotelersuk, V

“…Tammachote R, Janklat S, Tongkobpetch S, Suphapeetiporn K and Shotelersuk V. Holocarboxylase synthetase deficiency: novel clinical and molecular findings…”
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Clinical and Molecular Characterization of Thai Patients with Wiskott–Aldrich Syndrome by Amarinthnukrowh, P., Ittiporn, S., Tongkobpetch, S., Chatchatee, P., Sosothikul, D., Shotelersuk, V., Suphapeetiporn, K.

“…Wiskott–Aldrich syndrome (WAS) is an X‐linked recessive primary immunodeficiency disorder caused by mutations in the gene encoding the WAS protein (WASP)…”
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