发布求助
文献互助 智能选刊 最新文献

Cassidy and Allanson's Management of Genetic Syndromes最新文献

筛选
英文 中文
TURNER SYNDROME 特纳综合征
Cassidy and Allanson's Management of Genetic Syndromes Pub Date : 2020-10-30 DOI: 10.1002/9781119432692.ch60
Angela E. Lin, Melissa L. Crenshaw
{"title":"TURNER SYNDROME","authors":"Angela E. Lin, Melissa L. Crenshaw","doi":"10.1002/9781119432692.ch60","DOIUrl":"https://doi.org/10.1002/9781119432692.ch60","url":null,"abstract":"","PeriodicalId":142022,"journal":{"name":"Cassidy and Allanson's Management of Genetic Syndromes","volume":"157 ","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2020-10-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"134092361","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
MARFAN SYNDROME 马凡氏综合症
Cassidy and Allanson's Management of Genetic Syndromes Pub Date : 2020-10-30 DOI: 10.1002/9781119432692.ch37
U. Francke
{"title":"MARFAN SYNDROME","authors":"U. Francke","doi":"10.1002/9781119432692.ch37","DOIUrl":"https://doi.org/10.1002/9781119432692.ch37","url":null,"abstract":"","PeriodicalId":142022,"journal":{"name":"Cassidy and Allanson's Management of Genetic Syndromes","volume":"8 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2020-10-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"130417294","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
VON HIPPEL–LINDAU SYNDROME
Cassidy and Allanson's Management of Genetic Syndromes Pub Date : 2020-10-30 DOI: 10.1002/9781119432692.ch62
Samantha Greenberg, Luke D. Maese, Benjamin L. Maughan
{"title":"VON HIPPEL–LINDAU SYNDROME","authors":"Samantha Greenberg, Luke D. Maese, Benjamin L. Maughan","doi":"10.1002/9781119432692.ch62","DOIUrl":"https://doi.org/10.1002/9781119432692.ch62","url":null,"abstract":"Tumors called hemangioblastomas are characteristic of von Hippel-Lindau syndrome. These growths are made of newly formed blood vessels. Although they are typically noncancerous, they can cause serious or life-threatening complications. Hemangioblastomas that develop in the brain and spinal cord can cause headaches, vomiting, weakness, and a loss of muscle coordination (ataxia). Hemangioblastomas can also occur in the light-sensitive tissue that lines the back of the eye (the retina). These tumors, which are also called retinal angiomas, may cause vision loss.","PeriodicalId":142022,"journal":{"name":"Cassidy and Allanson's Management of Genetic Syndromes","volume":"79 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2020-10-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"116179917","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 8
DELETION 4p 删除4 p
Cassidy and Allanson's Management of Genetic Syndromes Pub Date : 2020-10-30 DOI: 10.1002/9781119432692.ch19
A. Battaglia
{"title":"DELETION 4p","authors":"A. Battaglia","doi":"10.1002/9781119432692.ch19","DOIUrl":"https://doi.org/10.1002/9781119432692.ch19","url":null,"abstract":"","PeriodicalId":142022,"journal":{"name":"Cassidy and Allanson's Management of Genetic Syndromes","volume":"146 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2020-10-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"114642425","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
GORLIN SYNDROME 戈林综合症
Cassidy and Allanson's Management of Genetic Syndromes Pub Date : 2020-10-30 DOI: 10.1002/9781119432692.ch29
P. Farndon, D. Evans
{"title":"GORLIN SYNDROME","authors":"P. Farndon, D. Evans","doi":"10.1002/9781119432692.ch29","DOIUrl":"https://doi.org/10.1002/9781119432692.ch29","url":null,"abstract":"In people with Gorlin syndrome, the type of cancer diagnosed most often is basal cell carcinoma, which is the most common form of skin cancer. Individuals with Gorlin syndrome typically begin to develop basal cell carcinomas during adolescence or early adulthood. These cancers occur most often on the face, chest, and back. The number of basal cell carcinomas that develop during a person's lifetime varies among affected individuals. Some people with Gorlin syndrome never develop any basal cell carcinomas, while others may develop thousands of these cancers. Individuals with lighter skin are more likely to develop basal cell carcinomas than are people with darker skin. The number of carcinomas may be reduced with ongoing treatment.","PeriodicalId":142022,"journal":{"name":"Cassidy and Allanson's Management of Genetic Syndromes","volume":"1 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2020-10-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"129295730","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
MYOTONIC DYSTROPHY TYPE 1 1型肌强直性营养不良
Cassidy and Allanson's Management of Genetic Syndromes Pub Date : 2020-10-30 DOI: 10.1002/9781119432692.ch39
I. B. Joosten, K. Okkersen, B. Engelen, C. Faber
{"title":"MYOTONIC DYSTROPHY TYPE 1","authors":"I. B. Joosten, K. Okkersen, B. Engelen, C. Faber","doi":"10.1002/9781119432692.ch39","DOIUrl":"https://doi.org/10.1002/9781119432692.ch39","url":null,"abstract":"","PeriodicalId":142022,"journal":{"name":"Cassidy and Allanson's Management of Genetic Syndromes","volume":"37 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2020-10-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"123178463","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
DELETION 22q11.2 (VELO‐CARDIO‐FACIAL SYNDROME/DIGEORGE SYNDROME) 缺失22q11.2 (VELO‐CARDIO‐FACIAL SYNDROME/DIGEORGE SYNDROME)
Cassidy and Allanson's Management of Genetic Syndromes Pub Date : 2020-10-30 DOI: 10.1002/9780470893159.CH20
D. McDonald-McGinn, Taisa J Kohut, E. Zackai
{"title":"DELETION 22q11.2 (VELO‐CARDIO‐FACIAL SYNDROME/DIGEORGE SYNDROME)","authors":"D. McDonald-McGinn, Taisa J Kohut, E. Zackai","doi":"10.1002/9780470893159.CH20","DOIUrl":"https://doi.org/10.1002/9780470893159.CH20","url":null,"abstract":"","PeriodicalId":142022,"journal":{"name":"Cassidy and Allanson's Management of Genetic Syndromes","volume":"18 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2020-10-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"114810300","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 3
KABUKI SYNDROME 歌舞伎综合症
Cassidy and Allanson's Management of Genetic Syndromes Pub Date : 2020-10-30 DOI: 10.1002/9781119432692.ch34
S. Dugan
{"title":"KABUKI SYNDROME","authors":"S. Dugan","doi":"10.1002/9781119432692.ch34","DOIUrl":"https://doi.org/10.1002/9781119432692.ch34","url":null,"abstract":"","PeriodicalId":142022,"journal":{"name":"Cassidy and Allanson's Management of Genetic Syndromes","volume":"4 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2020-10-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"125482276","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
DELETION 1p36 SYNDROME 缺失1p36综合征
Cassidy and Allanson's Management of Genetic Syndromes Pub Date : 2020-10-30 DOI: 10.1002/9780470893159.CH18
A. Battaglia
{"title":"DELETION 1p36 SYNDROME","authors":"A. Battaglia","doi":"10.1002/9780470893159.CH18","DOIUrl":"https://doi.org/10.1002/9780470893159.CH18","url":null,"abstract":"","PeriodicalId":142022,"journal":{"name":"Cassidy and Allanson's Management of Genetic Syndromes","volume":"169 7","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2020-10-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"134362231","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
HOLOPROSENCEPHALY 前脑无裂畸形
Cassidy and Allanson's Management of Genetic Syndromes Pub Date : 2020-10-30 DOI: 10.1002/0471695998.mgs025
P. Kruszka, A. Gropman, M. Muenke
{"title":"HOLOPROSENCEPHALY","authors":"P. Kruszka, A. Gropman, M. Muenke","doi":"10.1002/0471695998.mgs025","DOIUrl":"https://doi.org/10.1002/0471695998.mgs025","url":null,"abstract":"","PeriodicalId":142022,"journal":{"name":"Cassidy and Allanson's Management of Genetic Syndromes","volume":"24 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2020-10-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"133284967","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
首页 上一页 下一页 尾页
0
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整，为了账户安全，请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
×
提示
确定
请完成安全验证×
相关产品
×
本文献相关产品
联系我们：info@booksci.cn Book学术提供免费学术资源搜索服务，方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号：604180095
Book学术官方微信