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FRAGILE X SYNDROME AND PREMUTATION‐ASSOCIATED DISORDERS 脆性x综合征和突变前相关疾病
Cassidy and Allanson's Management of Genetic Syndromes Pub Date : 2020-10-30 DOI: 10.1002/9780470893159.CH27
R. Hagerman
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引用次数: 3
OCULO‐AURICULO‐VERTEBRAL SPECTRUM
Cassidy and Allanson's Management of Genetic Syndromes Pub Date : 2020-10-30 DOI: 10.1002/9780470893159.CH39
K. Devriendt, L. Smet, I. Casteels
{"title":"OCULO‐AURICULO‐VERTEBRAL SPECTRUM","authors":"K. Devriendt, L. Smet, I. Casteels","doi":"10.1002/9780470893159.CH39","DOIUrl":"https://doi.org/10.1002/9780470893159.CH39","url":null,"abstract":"","PeriodicalId":142022,"journal":{"name":"Cassidy and Allanson's Management of Genetic Syndromes","volume":"61 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":"127212617","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
COSTELLO SYNDROME 科斯特洛综合征
Cassidy and Allanson's Management of Genetic Syndromes Pub Date : 2020-02-08 DOI: 10.1002/0471695998.mgs014
B. Kerr, K. Gripp, E. Wright
{"title":"COSTELLO SYNDROME","authors":"B. Kerr, K. Gripp, E. Wright","doi":"10.1002/0471695998.mgs014","DOIUrl":"https://doi.org/10.1002/0471695998.mgs014","url":null,"abstract":"In 1971, Costello described a new syndrome in 2 patients. The major clinical findings comprise short stature; redundant skin of the neck, palms, soles, and fingers; curly hair; relative macrocephaly; depressed nasal bridge; papillomata around the mouth and nares; distinct facial gestalt; hyperextensible joints; and mental retardation. We present a third patient and review the manifestations of this condition.","PeriodicalId":142022,"journal":{"name":"Cassidy and Allanson's Management of Genetic Syndromes","volume":"24 1","pages":"69-73"},"PeriodicalIF":0.0,"publicationDate":"2020-02-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"116411210","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: 98
AARSKOG SYNDROME
Cassidy and Allanson's Management of Genetic Syndromes Pub Date : 2020-02-02 DOI: 10.32388/k23c9r
R. Stevenson
{"title":"AARSKOG SYNDROME","authors":"R. Stevenson","doi":"10.32388/k23c9r","DOIUrl":"https://doi.org/10.32388/k23c9r","url":null,"abstract":"An X-linked condition associated in a subset of cases with mutation(s) in the FGD1 gene, encoding a complex signaling protein containing FYVE, RhoGEF, and PH domains. The condition is usually characterized by distinctive facial features, short stature, skeletal anomalies, shawl scrotum (altered anatomical relationship between the penis and the scrotum) cryptorchidism, and developmental delay.","PeriodicalId":142022,"journal":{"name":"Cassidy and Allanson's Management of Genetic Syndromes","volume":"8 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2020-02-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"132675245","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
INCONTINENTIA PIGMENTI
Cassidy and Allanson's Management of Genetic Syndromes Pub Date : 2019-11-20 DOI: 10.1002/9781119142812.ch136
Dian Donnai, Elizabeth A. Jones
{"title":"INCONTINENTIA PIGMENTI","authors":"Dian Donnai, Elizabeth A. Jones","doi":"10.1002/9781119142812.ch136","DOIUrl":"https://doi.org/10.1002/9781119142812.ch136","url":null,"abstract":"Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS). Qeios · Definition, February 10, 2020","PeriodicalId":142022,"journal":{"name":"Cassidy and Allanson's Management of Genetic Syndromes","volume":"10 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2019-11-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"131277078","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
ALBINISM 白化病
Cassidy and Allanson's Management of Genetic Syndromes Pub Date : 2019-02-13 DOI: 10.1002/9781119432692.ch4
C. Summers, D. Adams
{"title":"ALBINISM","authors":"C. Summers, D. Adams","doi":"10.1002/9781119432692.ch4","DOIUrl":"https://doi.org/10.1002/9781119432692.ch4","url":null,"abstract":"","PeriodicalId":142022,"journal":{"name":"Cassidy and Allanson's Management of Genetic Syndromes","volume":"23 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2019-02-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"133649176","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
PROTEUS SYNDROME 普罗透斯综合症
Cassidy and Allanson's Management of Genetic Syndromes Pub Date : 2019-02-01 DOI: 10.1093/med/9780190944896.003.0011
L. Biesecker
{"title":"PROTEUS SYNDROME","authors":"L. Biesecker","doi":"10.1093/med/9780190944896.003.0011","DOIUrl":"https://doi.org/10.1093/med/9780190944896.003.0011","url":null,"abstract":"Proteus syndrome is an exceedingly rare disorder, perhaps the least common of all overgrowth syndromes but one of the most distinctive because of its segmental nature and unrelenting progression. Proteus syndrome occurs sporadically and was the first of the segmental overgrowth syndromes found to be caused by somatic mosaicism. The discovery of an activating mutation in AKT1 by Les Biesecker and colleagues at the National Institutes of Health provided the initial molecular proof for somatic mosaicism in Proteus syndrome. Overgrowth in Proteus syndrome can involve nearly any tissue or part of the body. Presumably a germline mutation that would affect all tissues of the body would be lethal. Overgrowth of a tissue or a body part is the distinctive manifestation of Proteus syndrome but in most cases will be accompanied by other cutaneous, skeletal, vascular, or soft tissue findings. Although the possibility of an increased risk for developing neoplastic disease is a concern in any overgrowth disorder, this has not been demonstrated in Proteus syndrome.","PeriodicalId":142022,"journal":{"name":"Cassidy and Allanson's Management of Genetic Syndromes","volume":"4 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2019-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"124122075","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
CORNELIA DE LANGE SYNDROME
Cassidy and Allanson's Management of Genetic Syndromes Pub Date : 2016-01-28 DOI: 10.1016/B978-008045046-9.01491-1
Matthew A. Deardorff, Sarah E. Noon, Ian D. Krantz
{"title":"CORNELIA DE LANGE SYNDROME","authors":"Matthew A. Deardorff, Sarah E. Noon, Ian D. Krantz","doi":"10.1016/B978-008045046-9.01491-1","DOIUrl":"https://doi.org/10.1016/B978-008045046-9.01491-1","url":null,"abstract":"","PeriodicalId":142022,"journal":{"name":"Cassidy and Allanson's Management of Genetic Syndromes","volume":"25 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2016-01-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"129694278","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: 4
CARDIO‐FACIO‐CUTANEOUS SYNDROME 有氧运动还是FACIO皮肤综合症
Cassidy and Allanson's Management of Genetic Syndromes Pub Date : 2010-05-17 DOI: 10.1002/9780470893159.CH11
M. I. Kavamura, G. Neri
{"title":"CARDIO‐FACIO‐CUTANEOUS SYNDROME","authors":"M. I. Kavamura, G. Neri","doi":"10.1002/9780470893159.CH11","DOIUrl":"https://doi.org/10.1002/9780470893159.CH11","url":null,"abstract":"","PeriodicalId":142022,"journal":{"name":"Cassidy and Allanson's Management of Genetic Syndromes","volume":"5 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2010-05-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"115432533","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: 2
SMITH–LEMLI–OPITZ SYNDROME SMITH-LEMLI-OPITZ综合症
Cassidy and Allanson's Management of Genetic Syndromes Pub Date : 2005-01-14 DOI: 10.1002/9780470893159.CH49
C. Cunniff
{"title":"SMITH–LEMLI–OPITZ SYNDROME","authors":"C. Cunniff","doi":"10.1002/9780470893159.CH49","DOIUrl":"https://doi.org/10.1002/9780470893159.CH49","url":null,"abstract":"The cardinal features of Smith-Lemli-Opitz syndrome areprenatal growth deficiency, microcephaly, developmental delay, characteristic facial features, cleft palate, cardiac defects, hypospadias, polydactyly, and 2–3 toe syndactyly. Almost all affected individuals have developmental delay or mental retardation. The facial appearance is characterized by narrow bifrontal diameter, ptosis, down-slanting palpebral fissures, and a short nose with a depressed nasal bridge and anteverted nares. Retrognathia is common. This is an autosomal-recessive trait with widely variable expression. It is caused by deficiency of the enzyme 7-dehydrocholesterol reductase, the final step of the cholesterol biogenesis pathway. The minimum incidence is 1 in 60,000 giving a carrier frequency of 1 in 122. \u0000 \u0000 \u0000Keywords: \u0000 \u0000Smith-Lemli-Opitz syndrome; \u0000RSH syndrome; \u00007-dehydrocholesterol reductase; \u0000growth retardation; \u0000microcephaly; \u0000developmental delay; \u0000characteristic facial features; \u0000cleft palate; \u0000hypospadias; \u0000polydactyly; \u00002–3 toe syndactyly","PeriodicalId":142022,"journal":{"name":"Cassidy and Allanson's Management of Genetic Syndromes","volume":"73 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2005-01-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"127335179","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
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