논문KCI 등재
A novel neurofibromatosis type 1 (NF1) mutation in a patient with NF1 and pheochromocytoma
2
조회
0
다운로드
0
인용
0
참고문헌
키워드
주제분류내과학
참고문헌 (5)
- Zinnamosca L, "Neurofibromatosis type 1 (NF1) and pheochromocytoma: prevalence, clinical and cardiovascular aspects", Arch Dermatol Res, 303, pp.317~325 (2011)[DOI]
- National Institutes of Health Consensus Development Conference, "Neurofibromatosis. Conference statement", Arch Neurol, 45, pp.575~578 (1988)[DOI]
- Alkindy A, "Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1 splice-site mutations", Hum Genomics, 6, pp.12~ (2012)[DOI]
- Relles D, "Periampullary and duodenal neoplasms in neurofibromatosis type 1: two cases and an updated 20-year review of the literature yielding 76 cases", J Gastrointest Surg, 14, pp.1052~1061 (2010)[DOI]
- Jett K, "Clinical and genetic aspects of neurofibromatosis 1", Genet Med, 12, pp.1~11 (2010)
관련 논문AI추천
Novel Pathogenic Missense NF1-Variant Associated With Cognitive ImpairmentAparna Somaraj, Ashwin Prasad, Faheem Arshad, Gautham Arunachal Udupi, Subasree Ramakrishnan, Suvarna Alladi대한치매학회 · Dementia and Neurocognitive Disorders(대한치매학회지)2024 · 제23권 제1호Mutation of the NF1 Gene and the Associated Clinical Features in Family Members with Neurofibromatosis Type 1김은숙, 문성대, 서유림, 정연정, 최규은, 한유민, 한제호대한내과학회 · 대한내과학회지2016 · 제90권 제5호Germline Mutations and Phenotypic Associations in Korean Patients With Pheochromocytoma and Paraganglioma: A Multicenter Study and Literature Review김은숙, 손장원, 윤재승, 이승옥, 이승환, 임동준, Han Je Ho, Jang Yi Sun, Jo Kwan Hoon, Kim Hoon Seok, Kim Myungshin, Kwon Hyuk-Sang, Lee Jaewoong, Moon Sungdae, Yoo Jaeeun, Yoo Soon Jib대한진단검사의학회 · Annals of Laboratory Medicine2024 · 제44권 제6호Novel PTCH1 Gene Mutation in a Patient with Gorlin‒Goltz SyndromeAyse Serap Karadag, Emin Ozlu, Gozde Yesil, Ibrahim Akalın, Ilkin Zindancı, Necmettin Akdeniz, Sarenur Yılmaz, Seyma Ozkanlı, Tugba Kevser Uzuncakmak대한피부과학회 · Annals of Dermatology2019 · 제31권 제1호Malignant Peripheral Nerve Sheath Tumor in Neurofibromatosis Type I : Unusual Presentation of Intraabdominal or Intrathoracic Mass손상균, Dong Hwan Kim, jong Gwang Kim, Kyu Bo Lee, Woo Jin Sung, Young Hwan Kim대한내과학회 · The Korean Journal of Internal Medicine2005 · 제20권 제1호Piebaldism with Neurofibromatosis Type I: A Familial Case김현정, 박상연, 안성구대한피부과학회 · Annals of Dermatology2014 · 제26권 제2호
이 간행물의 다른 논문 (28건)
Updated treatment strategies for intestinal Behçet’s diseaseYong Eun Park, 천재희pp. 1-19Novel treatments for inflammatory bowel diseaseHyo Sun Lee, Dong Il Park, Soo-Kyung Parkpp. 20-27Changing treatment paradigms for the management of inflammatory bowel diseaseJong Pil Im, You Sun Kim, Byong Duk Ye, Joo Sung Kimpp. 28-35Present status and perspectives of endosonography 2017 in gastroenterologyChristoph F. Dietrich, Barbara Braden, Christian Jenssen, Michael Hockepp. 36-63Non-alcoholic fatty liver disease and lifestyle modifications, focusing on physical activityMin-Sun Kwak, Donghee Kimpp. 64-74
