Literature DB >> 15371121

Williams syndrome associated with Crohn disease, multiple infections, and chronic granulomatous disease.

Enid Gilbert-Barness1, Terry Fox, Grant Morrow, Mark Luquette, Herbert H Pomerance.   

Abstract

Entities:  

Mesh：

Year:  2004        PMID： 15371121     DOI： 10.1080/15227950490423016

Source DB:  PubMed          Journal:  Fetal Pediatr Pathol        ISSN： 1551-3815            Impact factor:   0.958


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  5 in total

1.  Functional and genetic characterization of two extremely rare cases of Williams-Beuren syndrome associated with chronic granulomatous disease.

Authors:  Marie J Stasia; Michèle Mollin; Cécile Martel; Véronique Satre; Charles Coutton; Florence Amblard; Gaëlle Vieville; Joris M van Montfrans; Jaap J Boelens; Hermine E Veenstra-Knol; Karen van Leeuwen; Martin de Boer; Jean-Paul Brion; Dirk Roos
Journal:  Eur J Hum Genet       Date:  2013-01-23       Impact factor: 4.246

Review 2.  NADPH Oxidase Deficiency: A Multisystem Approach.

Authors:  Giuliana Giardino; Maria Pia Cicalese; Ottavia Delmonte; Maddalena Migliavacca; Boaz Palterer; Lorenzo Loffredo; Emilia Cirillo; Vera Gallo; Francesco Violi; Claudio Pignata
Journal:  Oxid Med Cell Longev       Date:  2017-12-21       Impact factor: 6.543

3.  Genetic Diagnostic Elucidation of a Patient With Multiorgan Granulomas, Facial Peculiarities, and Psychomotor Retardation.

Authors:  Daniel Soukup; Alma Kuechler; Joachim Roesler; Leopold Pichlmaier; Maximillian Eckerland; Margarete Olivier; Florian Stehling
Journal:  Front Genet       Date:  2018-09-27       Impact factor: 4.599

4.  Revealing Chronic Granulomatous Disease in a Patient With Williams-Beuren Syndrome Using Whole Exome Sequencing.

Authors:  Adiratna Mat Ripen; Mei Yee Chiow; Prakash Rao Rama Rao; Saharuddin Bin Mohamad
Journal:  Front Immunol       Date:  2021-11-04       Impact factor: 7.561

Review 5.  Genetic disorders coupled to ROS deficiency.

Authors:  Sharon O'Neill; Julie Brault; Marie-Jose Stasia; Ulla G Knaus
Journal:  Redox Biol       Date:  2015-07-17       Impact factor: 11.799
  5 in total

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