지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2018.1
- 수록면
- 597 - 601 (5page)
이용수
초록· 키워드
오류제보하기
We studied a family with Gorlin-Goltz syndrome. The novel mutations of our cases were located on the 21st exon of the PTCH1 gene (c.3450C＞G). The father, who received a strategic 56-day vismodegib treatment for disease control, was the first patient with Gorlin syndrome treated with the hedgehog inhibitor in Taiwan. The lesions regressed gradually, with scar formation, and were subsequently removed via a wide excision. Further details are provided below.
목차
등록된 정보가 없습니다.
참고문헌 (12)
참고문헌 신청
Gorlin RJ / 1960 / Multiple nevoid basal-cell epithelioma, jaw cysts and bifid rib. A syndrome / N Engl J Med 262:908~912
Farndon PA / 1992 / Location of gene for Gorlin syndrome / Lancet 339:581~582
Hahn H / 1996 / Mutations of the human homolog of drosophila patched in the nevoid basal cell carcinoma syndrome / Cell 85:841~851
Smyth I / 1999 / Isolation and characterization of human patched 2 (PTCH2), a putative tumour suppressor gene inbasal cell carcinoma and medulloblastoma on chromosome 1p32 / Hum Mol Genet 8:291~297
Pastorino L / 2009 / Identification of a SUFU germline mutation in a family with Gorlin syndrome / Am J Med Genet A 149A:1539~1543
Farndon PA / 1992 / Location of gene for Gorlin syndrome / Lancet 339:581~582
Hahn H / 1996 / Mutations of the human homolog of drosophila patched in the nevoid basal cell carcinoma syndrome / Cell 85:841~851
Smyth I / 1999 / Isolation and characterization of human patched 2 (PTCH2), a putative tumour suppressor gene inbasal cell carcinoma and medulloblastoma on chromosome 1p32 / Hum Mol Genet 8:291~297
Pastorino L / 2009 / Identification of a SUFU germline mutation in a family with Gorlin syndrome / Am J Med Genet A 149A:1539~1543
함께 읽어보면 좋을 논문
논문 유사도에 따라 DBpia 가 추천하는 논문입니다. 함께 보면 좋을 연관 논문을 확인해보세요!
-
Novel PTCH1 Gene Mutation in a Patient with Gorlin‒Goltz Syndrome
Annals of Dermatology
2019 .01
-
PTCH2 유전자 변이에 의한 Gorlin-Goltz 증후군 진단을 Whole Exome Sequencing을 통해 밝힌 한국인에서의 첫 증례
Laboratory Medicine Online
2020 .01
-
Unusual Neurological Presentation of Nevoid Basal Cell Carcinoma Syndrome (Gorlin-Goltz Syndrome)
Journal of Clinical Neurology
2017 .01
-
Multidisciplinary approach to Gorlin-Goltz syndrome: from diagnosis to surgical treatment of jawbones
Maxillofacial Plastic Reconstructive Surgery
2022 .01
-
The Association of Acquired T790M Mutation with Clinical Characteristics after Resistance to First-Line Epidermal Growth Factor Receptor Tyrosine Kinase Inhibitor in Lung Adenocarcinoma
Cancer Research and Treatment
2018 .01
-
Concurrent SHORT syndrome and 3q duplication syndrome
Journal of genetic medicine
2019 .01
-
Vascular compression syndromes: a pictorial review
ULTRASONOGRAPHY
2022 .07
-
A case of CHARGE syndrome featuring immunodeficiency and hypocalcemia
Journal of genetic medicine
2015 .01
-
Correlation between EGFR Gene Mutations and Lung Cancer: a Hospital-Based Study
Asian Pacific journal of cancer prevention : APJCP
2015 .01
-
Congenital hypothyroidism due to thyroglobulin deficiency: a case report with a novel mutation in TG gene
Annals of Pediatirc Endocrinology & Metabolism
2019 .01
-
Molecular and Clinicopathological Features of Gastrointestinal Stromal Tumors in Vietnamese Patients
Journal of Pathology and Translational Medicine
2019 .01
-
Clinical Outcomes of EGFR Exon 20 Insertion Mutations in Advanced Non-small Cell Lung Cancer in Korea
Cancer Research and Treatment
2019 .01
-
Novel Germline Mutations of BRCA1 and BRCA2 in Korean Familial Breast Cancer Patients
전남의대학술지
2019 .01
-
Myelodysplastic syndromes and overlap syndromes
Blood Research
2021 .04
-
Myelodysplastic syndromes and overlap syndromes
Blood Research
2021 .01
-
Efficacy of Stiripentol in Dravet Syndrome with or without SCN1A Mutations
Journal of Clinical Neurology
2018 .01
-
辨證論治와 病證辨治 장단점의 비교고찰 - 고혈압과 두통의 예를 중심으로 -
대한예방한의학회지
2017 .01
-
On the Severity of Carpal Tunnel Syndrome: Diabetes or Metabolic Syndrome
Journal of Clinical Neurology
2015 .01
-
Detection of Germline Mutations in Breast Cancer Patients with Clinical Features of Hereditary Cancer Syndrome Using a Multi-Gene Panel Test
Cancer Research and Treatment
2020 .01
-
Genetic Syndromes Associated with Craniosynostosis
대한신경외과학회지
2016 .01
이 논문의 저자 정보
최근 본 자료
댓글(0)
0