Literature DB >> 10636739

A case of Williams syndrome with a large, visible cytogenetic deletion.

Y Q Wu, E Nickerson, L G Shaffer, K Keppler-Noreuil, A Muilenburg.   

Abstract

Entities:  

Mesh：

Year:  1999        PMID： 10636739      PMCID： PMC1734274     

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


× No keyword cloud information.
  8 in total

1.  Recurrent distal 7q11.23 deletion including HIP1 and YWHAG identified in patients with intellectual disabilities, epilepsy, and neurobehavioral problems.

Authors:  Melissa B Ramocki; Magdalena Bartnik; Przemyslaw Szafranski; Katarzyna E Kołodziejska; Zhilian Xia; Jaclyn Bravo; G Steve Miller; Diana L Rodriguez; Charles A Williams; Patricia I Bader; Elżbieta Szczepanik; Tomasz Mazurczak; Dorota Antczak-Marach; James G Coldwell; Cigdem I Akman; Karen McAlmon; Melinda P Cohen; James McGrath; Elizabeth Roeder; Jennifer Mueller; Sung-Hae L Kang; Carlos A Bacino; Ankita Patel; Ewa Bocian; Chad A Shaw; Sau Wai Cheung; Tadeusz Mazurczak; Paweł Stankiewicz
Journal:  Am J Hum Genet       Date:  2010-11-25       Impact factor: 11.025

2.  Cardiovascular manifestations in 75 patients with Williams syndrome.

Authors:  M Eronen; M Peippo; A Hiippala; M Raatikka; M Arvio; R Johansson; M Kähkönen
Journal:  J Med Genet       Date:  2002-08       Impact factor: 6.318

3.  Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11.

Authors:  Christian R Marshall; Edwin J Young; Ariel M Pani; Mary-Louise Freckmann; Yves Lacassie; Cédric Howald; Kristi K Fitzgerald; Maarit Peippo; Colleen A Morris; Kate Shane; Manuela Priolo; Masafumi Morimoto; Ikuko Kondo; Esra Manguoglu; Sibel Berker-Karauzum; Patrick Edery; Holly H Hobart; Carolyn B Mervis; Orsetta Zuffardi; Alexandre Reymond; Paige Kaplan; May Tassabehji; Ronald G Gregg; Stephen W Scherer; Lucy R Osborne
Journal:  Am J Hum Genet       Date:  2008-06-19       Impact factor: 11.025

4.  Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities.

Authors:  Lisenka E L M Vissers; Bert B A de Vries; Kazutoyo Osoegawa; Irene M Janssen; Ton Feuth; Chik On Choy; Huub Straatman; Walter van der Vliet; Erik H L P G Huys; Anke van Rijk; Dominique Smeets; Conny M A van Ravenswaaij-Arts; Nine V Knoers; Ineke van der Burgt; Pieter J de Jong; Han G Brunner; Ad Geurts van Kessel; Eric F P M Schoenmakers; Joris A Veltman
Journal:  Am J Hum Genet       Date:  2003-11-18       Impact factor: 11.025

5.  Objective differential diagnosis of Noonan and Williams-Beuren syndromes in diverse populations using quantitative facial phenotyping.

Authors:  Antonio R Porras; Marshal Summar; Marius George Linguraru
Journal:  Mol Genet Genomic Med       Date:  2021-03-27       Impact factor: 2.183

6.  Genetic Generalized Epilepsy and Intrafamilial Phenotypic Variability with Distal 7q11.23 Deletion.

Authors:  Veronica Birca; Kenneth A Myers
Journal:  Child Neurol Open       Date:  2022-04-21

7.  Disorders caused by chromosome abnormalities.

Authors:  Aaron Theisen; Lisa G Shaffer
Journal:  Appl Clin Genet       Date:  2010-12-10

8.  Genome wide array-CGH and qPCR analysis for the identification of genome defects in Williams' syndrome patients in Saudi Arabia.

Authors:  A Magbooli; E Huwait; A Chaudhary; R Bader; M Gari; F Ashgan; M Alquaiti; A Abuzenadah; M AlQahtani; I R Hussein
Journal:  Mol Cytogenet       Date:  2016-08-12       Impact factor: 2.009
  8 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.