Literature DB >> 11305686

Williams (Williams Beuren) syndrome: a distinct neurobehavioral disorder.

P Kaplan1, P P Wang, U Francke.   

Abstract

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Year:  2001        PMID： 11305686     DOI： 10.1177/088307380101600305

Source DB:  PubMed          Journal:  J Child Neurol        ISSN： 0883-0738            Impact factor:   1.987


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  9 in total

1.  A physical map, including a BAC/PAC clone contig, of the Williams-Beuren syndrome--deletion region at 7q11.23.

Authors:  R Peoples; Y Franke; Y K Wang; L Pérez-Jurado; T Paperna; M Cisco; U Francke
Journal:  Am J Hum Genet       Date:  2000-01       Impact factor: 11.025

Review 2.  Syndromes with aortic involvement: pictorial review.

Authors:  Evan J Zucker
Journal:  Cardiovasc Diagn Ther       Date:  2018-04

3.  Rare copy number variants in a population-based investigation of hypoplastic right heart syndrome.

Authors:  Aggeliki Dimopoulos; Robert J Sicko; Denise M Kay; Shannon L Rigler; Charlotte M Druschel; Michele Caggana; Marilyn L Browne; Ruzong Fan; Paul A Romitti; Lawrence C Brody; James L Mills
Journal:  Birth Defects Res       Date:  2017-01-20       Impact factor: 2.344

Review 4.  Williams-Beuren syndrome: computed tomography imaging review.

Authors:  Karuna M Das; Tarek S Momenah; Sven G Larsson; Shehla Jadoon; Abdullah S Aldosary; Edward Y Lee
Journal:  Pediatr Cardiol       Date:  2014-08-20       Impact factor: 1.655

5.  Stenosis of the thoracic aorta in Williams syndrome.

Authors:  R Thomas Collins; Paige Kaplan; Jonathan J Rome
Journal:  Pediatr Cardiol       Date:  2010-04-22       Impact factor: 1.655

6.  Williams syndrome: a surprising deficit in oromotor praxis in a population with proficient language production.

Authors:  Saloni Krishnan; Lina Bergström; Katherine J Alcock; Frederic Dick; Annette Karmiloff-Smith
Journal:  Neuropsychologia       Date:  2014-11-27       Impact factor: 3.139

7.  Efficacy of denosumab therapy for a 12-year-old female patient with Williams syndrome with osteoporosis and history of fractures: a case report.

Authors:  Masashi Uehara; Yukio Nakamura; Takako Suzuki; Noriko Sakai; Jun Takahashi
Journal:  J Med Case Rep       Date:  2021-12-15

8.  Induced chromosome deletions cause hypersociability and other features of Williams-Beuren syndrome in mice.

Authors:  Hong Hua Li; Madhuri Roy; Unsal Kuscuoglu; Corinne M Spencer; Birgit Halm; Katharine C Harrison; Joseph H Bayle; Alessandra Splendore; Feng Ding; Leslie A Meltzer; Elena Wright; Richard Paylor; Karl Deisseroth; Uta Francke
Journal:  EMBO Mol Med       Date:  2009-04       Impact factor: 12.137

Review 9.  Diagnosis and Management of Genetic Causes of Middle Aortic Syndrome in Children: A Comprehensive Literature Review.

Authors:  Cecilia Lazea; Camelia Al-Khzouz; Crina Sufana; Diana Miclea; Carmen Asavoaie; Ioana Filimon; Otilia Fufezan
Journal:  Ther Clin Risk Manag       Date:  2022-03-16       Impact factor: 2.423
  9 in total

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