Clinical improvement of renal amyloidosis in a patient with systemic-onset juvenile idiopathic arthritis who received tocilizumab treatment: a case report and literature review

по Chantarogh, Songkiat, Vilaiyuk, Soamarat, Tim-Aroon, Thipwimol, Worawichawong, Suchin
Опубликовано в: BMC Nephrol (2017)

AB085. Diagnosis of Prader-Willi syndrome using computer-aided facial dysmorphism analysis in Thai patients

по Tim-Aroon, Thipwimol, Mongkollarp, Nantiya, Khunin, Waraphorn, Wattanasirichaigoon, Duangrurdee
Опубликовано в: Ann Transl Med (2017)

AB083. Social media with cartoon characters as a powerful tool for expanding medical education and raising awareness of rare genetic diseases

по Tim-Aroon, Thipwimol, Leklab, Suphatcharee, Satawiriya, Marin, Ketsuwan, Sirima, Wattanasirichaigoon, Duangrurdee
Опубликовано в: Ann Transl Med (2017)

Correction to: Perspectives of adults with Klinefelter syndrome, unaffected adolescent males, and parents of affected children toward diagnosis disclosure: a Thai experience

по Suwannachat, Sukrit, Wattanasirichaigoon, Duangrurdee, Arunakul, Jiraporn, Chirdkiatgumchai, Vilawan, Tim-Aroon, Thipwimol
Опубликовано в: J Community Genet (2019)

Perspectives of adults with Klinefelter syndrome, unaffected adolescent males, and parents of affected children toward diagnosis disclosure: a Thai experience

по Suwannachat, Sukrit, Wattanasirichaigoon, Duangrurdee, Arunakul, Jiraporn, Chirdkiatgumchai, Vilawan, Tim-Aroon, Thipwimol
Опубликовано в: J Community Genet (2019)

Growth charts for Thai children with Prader-Willi syndrome aged 0–18 years

по Mongkollarp, Nantiya, Tim-Aroon, Thipwimol, Okascharoen, Chusak, Wichajarn, Khunton, Phosuwattanakul, Jeeraparn, Chongviriyaphan, Nalinee, Wattanasirichaigoon, Duangrurdee
Опубликовано в: Orphanet J Rare Dis (2020)

Etiologies, Prognostic Factors, and Outcomes of Pediatric Acute Liver Failure in Thailand

по Getsuwan, Songpon, Lertudomphonwanit, Chatmanee, Tanpowpong, Pornthep, Thirapattaraphan, Chollasak, Tim-Aroon, Thipwimol, Wattanasirichaigoon, Duangrurdee, Treepongkaruna, Suporn
Опубликовано в: Pediatr Gastroenterol Hepatol Nutr (2020)

Comparison of 24-Hour Recall and 3-Day Food Records during the Complementary Feeding Period in Thai Infants and Evaluation of Plasma Amino Acids as Markers of Protein Intake

по Kittisakmontri, Kulnipa, Lanigan, Julie, Sangcakul, Areeporn, Tim-Aroon, Thipwimol, Meemaew, Pornchai, Wangaueattachon, Kanticha, Fewtrell, Mary
Опубликовано в: Nutrients (2021)

Molecular analysis of the novel IDS allele in a Thai family with mucopolysaccharidosis type II: The c.928C>T (p.Gln310*) transcript is sensitive to nonsense-mediated mRNA decay

по Ngiwsara, Lukana, Rojnueangnit, Kitiwan, Wattanasirichaigoon, Duangrurdee, Tim-Aroon, Thipwimol, Sawangareetrakul, Phannee, Champattanachai, Voraratt, Ketudat-Cairns, James R., Svasti, Jisnuson
Опубликовано в: Exp Ther Med (2017)

Klinefelter Syndrome Mosaicism 46,XX/47,XXY: A New Case and Literature Review

по Tangshewinsirikul, Chayada, Dulyaphat, Wirada, Tim-Aroon, Thipwimol, Parinayok, Rachanee, Chareonsirisuthigul, Takol, Korkiatsakul, Veerawat, Waisayarat, Jariya, Sirisreetreerux, Pokket, Tingthanatikul, Yada, Wattanasirichaigoon, Duangrurdee
Опубликовано в: J Pediatr Genet (2020)

MITF variants cause nonsyndromic sensorineural hearing loss with autosomal recessive inheritance

по Thongpradit, Supranee, Jinawath, Natini, Javed, Asif, Noojarern, Saisuda, Khongkraparn, Arthaporn, Tim-Aroon, Thipwimol, Lertsukprasert, Krisna, Suktitipat, Bhoom, Jensen, Laran T., Wattanasirichaigoon, Duangrurdee
Опубликовано в: Sci Rep (2020)

Clinical delineation of 18q11‐q12 microdeletion: Intellectual disability, speech and behavioral disorders, and conotruncal heart defects

по Rojnueangnit, Kitiwan, Charalsawadi, Chariyawan, Thammachote, Weerin, Pradabmuksiri, Ariya, Tim‐Aroon, Thipwimol, Novelli, Antonio, Loddo, Sara, Briuglia, Silvana, Concetta, Cutrupi M., Wattanasirichaigoon, Duangrurdee, Jinawath, Natini
Опубликовано в: Mol Genet Genomic Med (2019)

Novel SOX10 Mutations in Waardenburg Syndrome: Functional Characterization and Genotype-Phenotype Analysis

по Thongpradit, Supranee, Jinawath, Natini, Javed, Asif, Jensen, Laran T., Chunsuwan, Issarapa, Rojnueangnit, Kitiwan, Tim-Aroon, Thipwimol, Lertsukprasert, Krisna, Shiao, Meng-Shin, Sirachainan, Nongnuch, Wattanasirichaigoon, Duangrurdee
Опубликовано в: Front Genet (2020)

Chromosomal microarray analysis in a cohort of underrepresented population identifies SERINC2 as a novel candidate gene for autism spectrum disorder

по Hnoonual, Areerat, Thammachote, Weerin, Tim-Aroon, Thipwimol, Rojnueangnit, Kitiwan, Hansakunachai, Tippawan, Sombuntham, Tasanawat, Roongpraiwan, Rawiwan, Worachotekamjorn, Juthamas, Chuthapisith, Jariya, Fucharoen, Suthat, Wattanasirichaigoon, Duangrurdee, Ruangdaraganon, Nichara, Limprasert, Pornprot, Jinawath, Natini
Опубликовано в: Sci Rep (2017)

Clinical course, mutations and its functional characteristics of infantile-onset Pompe disease in Thailand

по Ngiwsara, Lukana, Wattanasirichaigoon, Duangrurdee, Tim-Aroon, Thipwimol, Rojnueangnit, Kitiwan, Noojaroen, Saisuda, Khongkraparn, Arthaporn, Sawangareetrakul, Phannee, Ketudat-Cairns, James R., Charoenwattanasatien, Ratana, Champattanachai, Voraratt, Kuptanon, Chulaluck, Pangkanon, Suthipong, Svasti, Jisnuson
Опубликовано в: BMC Med Genet (2019)

DUOX2 variants are a frequent cause of congenital primary hypothyroidism in Thai patients

по Sorapipatcharoen, Kinnaree, Tim-Aroon, Thipwimol, Mahachoklertwattana, Pat, Chantratita, Wasun, Iemwimangsa, Nareenart, Sensorn, Insee, Panthan, Bhakbhoom, Jiaranai, Poramate, Noojarern, Saisuda, Khlairit, Patcharin, Pongratanakul, Sarunyu, Suprasongsin, Chittiwat, Korwutthikulrangsri, Manassawee, Sriphrapradang, Chutintorn, Poomthavorn, Preamrudee
Опубликовано в: Endocr Connect (2020)

Infantile onset Sandhoff disease: clinical manifestation and a novel common mutation in Thai patients

по Tim-Aroon, Thipwimol, Wichajarn, Khunton, Katanyuwong, Kamornwan, Tanpaiboon, Pranoot, Vatanavicharn, Nithiwat, Sakpichaisakul, Kullasate, Kongkrapan, Arthaporn, Eu-ahsunthornwattana, Jakris, Thongpradit, Supranee, Moolsuwan, Kanya, Satproedprai, Nusara, Mahasirimongkol, Surakameth, Lerksuthirat, Tassanee, Suktitipat, Bhoom, Jinawath, Natini, Wattanasirichaigoon, Duangrurdee
Опубликовано в: BMC Pediatr (2021)