Zobrazeno 1 - 10
of 28
pro vyhledávání: '"Prasit, Phowthongkum"'
Publikováno v:
BMC Medical Genomics, Vol 17, Iss 1, Pp 1-10 (2024)
Abstract Background People with autosomal recessive disorders often were born without awareness of the carrier status of their parents. The American College of Medical Genetics and Genomics (ACMG) recommends screening 113 genes known to cause autosom
Externí odkaz:
https://doaj.org/article/954309c3d68644d588f3f763284e774b
Autor:
Sekh Thanprasertsuk, Prasit Phowthongkum, Thitipong Hopetrungraung, Chalalai Poorirerngpoom, Tikumphorn Sathirapatya, Patsorn Wichit, Onanong Phokaewvarangkul, Kornkiat Vongpaisarnsin, Saknan Bongsebandhu-Phubhakdi, Roongroj Bhidayasiri
Publikováno v:
PLoS ONE, Vol 18, Iss 10, p e0293516 (2023)
BackgroundWith the benefit of using next-generation sequencing (NGS), our aim was to examine the prevalence of known monogenic causes in early-onset Parkinson's disease (EOPD) patients in Thailand. The association between clinical features, such as l
Externí odkaz:
https://doaj.org/article/9a03937cf4da44dc89c3e50322cc5060
Publikováno v:
Clinical and Molecular Hepatology, Vol 25, Iss 4, Pp 412-416 (2019)
Externí odkaz:
https://doaj.org/article/018181d386824b16a6b1f17fd0c23dde
Publikováno v:
JAAD Case Reports, Vol 7, Iss , Pp 47-49 (2021)
Externí odkaz:
https://doaj.org/article/a0e7452ae1ef4bd8af44d89f111d8c9f
Autor:
Pattara Wiromrat, Prasit Phowthongkum, Vorasuk Shotelersuk, Wanna Chetruengchai, Chureerat Phokaew, Duangrurdee Wattanasirichaigoon, Chupong Ittiwut, Kitiwan Rojnueangnit, Mongkol Chanvanichtrakool, Ponghatai Boonsimma, Aayalida Buasong, Kanya Suphapeetiporn, Rungnapa Ittiwut, Chutima Phuaksaman, Adjima Assawapitaksakul, Chalurmpon Srichomthong, Wuttichart Kamolvisit, Chulaluck Kuptanon
Publikováno v:
Clinical Genetics. 100:100-105
The use of rapid DNA sequencing technology in severely ill children in developed countries can accurately identify diagnoses and positively impact patient outcomes. This study sought to evaluate the outcome of Thai children and adults with unknown et
Publikováno v:
Clinical and Molecular Hepatology, Vol 25, Iss 4, Pp 412-416 (2019)
Clinical and Molecular Hepatology
Clinical and Molecular Hepatology
Publikováno v:
World Journal of Clinical Oncology
BACKGROUND Genetic testing is widely recommended for all epithelial ovarian cancer (EOC) patients. However, an increased probability of identifying germline mutations has been reported in selected patients with risk factors such as a family history o
Autor:
Kitiwan Rojnueangnit, Chalurmpon Srichomthong, Aayalida Buasong, Kanya Suphapeetiporn, Rungnapa Ittiwut, Vorasuk Shotelersuk, Wanna Chetruengchai, Pattara Wiromrat, Chupong Ittiwut, Adjima Assawapitaksakul, Mongkol Chanvanichtrakool, Duangrurdee Wattanasirichaigoon, Prasit Phowthongkum, Chulaluck Kuptanon, Wuttichart Kamolvisit, Ponghatai Boonsimma, Chureerat Phokaew, Chutima Phuaksaman
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca44c37112de3b765e7e9afbe8b9e2f3
https://doi.org/10.1111/cge.13963/v2/response1
https://doi.org/10.1111/cge.13963/v2/response1
Publikováno v:
Asian Pacific Journal of Cancer Prevention : APJCP
Background Lynch syndrome increases lifetime risk of endometrial cancer to 40-60%. Screening with molecular tumor testing for mismatch repair (MMR) proteins have been recommended. This study aims to evaluate the incidence of MMR deficiency and germli
Autor:
Prasit Phowthongkum, Suporn Chuncharunee, Chantana Polprasert, Pimjai Niparuck, Panisinee Lawasut, Sunisa Kongkiatkamon, Arunrat Pirunsarn, June Takeda, Amornchai Suksusut, Kenichi Yoshida, Thanawat Rattanathammethee, Kritanan Songserm, Hideki Makishima, Ponlapat Rojnuckarin, Sirorat Kobbuaklee, Kitsada Wudhikarn, Udomsak Bunworasate, Seishi Ogawa, Yasuhito Nannya
Publikováno v:
International journal of hematology. 111(2)
Germline DDX41 mutations were recently reported to cause MDS/AML and donor-derived leukemia after transplantation. While previously described in Western countries, DDX41 variants have not been reported in a Southeast Asian population. We performed ta