Williams syndrome: an update on clinical and molecular aspects.
作者信息
Metcalfe K
机构信息
Department of Clinical Genetics St Mary's Hospital Manchester M13 0JH, UK.
出版信息
Arch Dis Child. 1999 Sep;81(3):198-200. doi: 10.1136/adc.81.3.198.
Abstract
摘要
相似文献
1
Williams syndrome: an update on clinical and molecular aspects.
Arch Dis Child. 1999 Sep;81(3):198-200. doi: 10.1136/adc.81.3.198.
2
Behavioural phenotypes and family stress in three mental retardation syndromes.
Eur Child Adolesc Psychiatry. 1997 Mar;6(1):26-31. doi: 10.1007/BF00573637.
3
Genetics of childhood disorders: XXVI. Williams syndrome and brain-behavior relationships.
J Am Acad Child Adolesc Psychiatry. 2001 May;40(5):606-9. doi: 10.1097/00004583-200105000-00022.
4
Temperament in Williams syndrome.
Genet Couns. 1996;7(1):41-6.
5
Behavioral phenotypes in genetic syndromes: genetic clues to human behavior.
Adv Pediatr. 2002;49:59-86.
6
Family contexts, parental behaviour, and personality profiles of children and adolescents with Prader-Willi, fragile-X, or Williams syndrome.
J Child Psychol Psychiatry. 1998 Jul;39(5):699-710.
7
Longitudinal course of behavioral and emotional problems in Williams syndrome.
Am J Ment Retard. 2001 Jan;106(1):73-81. doi: 10.1352/0895-8017(2001)106<0073:LCOBAE>2.0.CO;2.
8
Clinical manifestations and molecular investigation of 50 patients with Williams syndrome in the Greek population.
Pediatr Res. 2005 Jun;57(6):789-95. doi: 10.1203/01.PDR.0000157675.06850.68. Epub 2005 Mar 17.
9
Behavioral features of Williams Beuren syndrome compared to Fragile X syndrome and subjects with intellectual disability without defined etiology.
Res Dev Disabil. 2011 Mar-Apr;32(2):643-52. doi: 10.1016/j.ridd.2010.12.005. Epub 2011 Jan 5.
10
[Williams syndrome: its clinical aspects and molecular bases].
Rev Neurol. 2006 Jan 7;42 Suppl 1:S69-75.
引用本文的文献
1
[Williams-Beuren syndrome: a retrospective study of a series of 11 cases at the Mohammed VI University Hospital in Marrakech].
Pan Afr Med J. 2023 Dec 1;46:94. doi: 10.11604/pamj.2023.46.94.29604. eCollection 2023.
2
MRI assessment of superior temporal gyrus in Williams syndrome.
Cogn Behav Neurol. 2008 Sep;21(3):150-6. doi: 10.1097/WNN.0b013e31817720e4.
3
Genetic contributions to human gyrification: sulcal morphometry in Williams syndrome.
J Neurosci. 2005 Aug 24;25(34):7840-6. doi: 10.1523/JNEUROSCI.1722-05.2005.
本文引用的文献
1
THE SYNDROME OF SUPRAVALVULAR AORTIC STENOSIS, PERIPHERAL PULMONARY STENOSIS, MENTAL RETARDATION AND SIMILAR FACIAL APPEARANCE.
Am J Cardiol. 1964 Apr;13:471-83. doi: 10.1016/0002-9149(64)90154-7.
2
Supravalvular aortic stenosis.
Circulation. 1961 Dec;24:1311-8. doi: 10.1161/01.cir.24.6.1311.
3
Supravalvular aortic stenosis in association with mental retardation and a certain facial appearance.
Circulation. 1962 Dec;26:1235-40. doi: 10.1161/01.cir.26.6.1235.
4
Williams syndrome: use of chromosomal microdeletions as a tool to dissect cognitive and physical phenotypes.
Am J Hum Genet. 1999 Jan;64(1):118-25. doi: 10.1086/302214.
5
Complete physical map of the common deletion region in Williams syndrome and identification and characterization of three novel genes.
Hum Genet. 1998 Nov;103(5):590-9. doi: 10.1007/s004390050874.
6
A novel human gene, WSTF, is deleted in Williams syndrome.
Genomics. 1998 Dec 1;54(2):241-9. doi: 10.1006/geno.1998.5578.
7
A novel human gene FKBP6 is deleted in Williams syndrome.
Genomics. 1998 Sep 1;52(2):130-7. doi: 10.1006/geno.1998.5412.
8
A duplicated gene in the breakpoint regions of the 7q11.23 Williams-Beuren syndrome deletion encodes the initiator binding protein TFII-I and BAP-135, a phosphorylation target of BTK.
Hum Mol Genet. 1998 Mar;7(3):325-34. doi: 10.1093/hmg/7.3.325.
9
PMS2-related genes flank the rearrangement breakpoints associated with Williams syndrome and other diseases on human chromosome 7.
Genomics. 1997 Oct 15;45(2):402-6. doi: 10.1006/geno.1997.4923.
10
A novel human homologue of the Drosophila frizzled wnt receptor gene binds wingless protein and is in the Williams syndrome deletion at 7q11.23.
Hum Mol Genet. 1997 Mar;6(3):465-72. doi: 10.1093/hmg/6.3.465.
Zotero 插件