Literature DB >> 11331709

American Academy of Pediatrics: Health care supervision for children with Williams syndrome.

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Abstract

This set of guidelines is designed to assist the pediatrician to care for children with Williams syndrome diagnosed by clinical features and with regional chromosomal microdeletion confirmed by fluorescence in situ hybridization.

Entities:  

Mesh：

Year:  2001        PMID： 11331709

Source DB:  PubMed          Journal:  Pediatrics        ISSN： 0031-4005            Impact factor:   7.124


  52 in total

1.  Incidence of diverticular disease and complicated diverticular disease in young patients with Williams syndrome.

Authors:  Stefano Stagi; Elisabetta Lapi; Francesco Chiarelli; Maurizio de Martino
Journal:  Pediatr Surg Int       Date:  2010-07-22       Impact factor: 1.827

2.  High prevalence of diabetes and pre-diabetes in adults with Williams syndrome.

Authors:  B R Pober; E Wang; S Caprio; K F Petersen; C Brandt; T Stanley; L R Osborne; J Dzuria; B Gulanski
Journal:  Am J Med Genet C Semin Med Genet       Date:  2010-05-15       Impact factor: 3.908

Review 3.  CHD associated with syndromic diagnoses: peri-operative risk factors and early outcomes.

Authors:  Benjamin J Landis; David S Cooper; Robert B Hinton
Journal:  Cardiol Young       Date:  2015-09-08       Impact factor: 1.093

Review 4.  Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association.

Authors:  Mary Ella Pierpont; Martina Brueckner; Wendy K Chung; Vidu Garg; Ronald V Lacro; Amy L McGuire; Seema Mital; James R Priest; William T Pu; Amy Roberts; Stephanie M Ware; Bruce D Gelb; Mark W Russell
Journal:  Circulation       Date:  2018-11-20       Impact factor: 29.690

Review 5.  Bridging the gene-behavior divide through neuroimaging deletion syndromes: Velocardiofacial (22q11.2 Deletion) and Williams (7q11.23 Deletion) syndromes.

Authors:  Daniel Paul Eisenberg; Mbemba Jabbi; Karen Faith Berman
Journal:  Neuroimage       Date:  2010-03-03       Impact factor: 6.556

6.  Challenges in clinical diagnosis of williams-beuren syndrome in sub-saharan africans: case reports from cameroon.

Authors:  Cedrik Tekendo-Ngongang; Sophie Dahoun; Seraphin Nguefack; Stefania Gimelli; Frédérique Sloan-Béna; Ambroise Wonkam
Journal:  Mol Syndromol       Date:  2014-11-29

Review 7.  Copy number variants at Williams-Beuren syndrome 7q11.23 region.

Authors:  Giuseppe Merla; Nicola Brunetti-Pierri; Lucia Micale; Carmela Fusco
Journal:  Hum Genet       Date:  2010-05-01       Impact factor: 4.132

8.  Clinical utility gene card for: Williams-Beuren Syndrome [7q11.23].

Authors:  Udo Koehler; Brigitte Pabst; Barbara Pober; Beth Kozel
Journal:  Eur J Hum Genet       Date:  2014-02-26       Impact factor: 4.246

9.  Williams-Beuren Syndrome: The Role of Cardiac CT in Diagnosis.

Authors:  Puneeth Kumar; Khaled Abdelrahman; Bharath Das; Suman Tp; Amit Kumar Dey
Journal:  Methodist Debakey Cardiovasc J       Date:  2020 Jan-Mar

10.  Hypercalcemia in Patients with Williams-Beuren Syndrome.

Authors:  Sampat Sindhar; Michael Lugo; Mark D Levin; Joshua R Danback; Benjamin D Brink; Eric Yu; Dennis J Dietzen; Amy L Clark; Carolyn A Purgert; Jessica L Waxler; Robert W Elder; Barbara R Pober; Beth A Kozel
Journal:  J Pediatr       Date:  2016-08-26       Impact factor: 4.406
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