Literature DB >> 25772942

Williams Syndrome with Infantile Spasms.

İpek Polat1, Pakize Karaoglu, Muge Ayanoglu, Uluc Yis, Semra Hiz.   

Abstract

Entities:  

Mesh：

Year:  2015        PMID： 25772942     DOI： 10.1007/s12098-015-1740-4

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN： 0019-5456            Impact factor:   1.967


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  6 in total

1.  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

2.  Infantile ictal apneas in a child with williams-beuren syndrome.

Authors:  Kenneth A Myers; D Ross McLeod; Luis Bello-Espinosa
Journal:  Pediatr Neurol       Date:  2013-02       Impact factor: 3.372

3.  Infantile spasms in a patient with williams syndrome and craniosynostosis.

Authors:  Masafumi Morimoto; Byongmun An; Aya Ogami; Noriko Shin; Yuriko Sugino; Yasuko Sawai; Tomohiro Usuku; Masayuki Tanaka; Kiyoshi Hirai; Akira Nishimura; Koh Hasegawa; Tohru Sugimoto
Journal:  Epilepsia       Date:  2003-11       Impact factor: 5.864

4.  Interstitial deletion of chromosome 7q in a patient with Williams syndrome and infantile spasms.

Authors:  K Mizugishi; K Yamanaka; K Kuwajima; I Kondo
Journal:  J Hum Genet       Date:  1998       Impact factor: 3.172

5.  Smaller and larger deletions of the Williams Beuren syndrome region implicate genes involved in mild facial phenotype, epilepsy and autistic traits.

Authors:  Carmela Fusco; Lucia Micale; Bartolomeo Augello; Maria Teresa Pellico; Deny Menghini; Paolo Alfieri; Maria Cristina Digilio; Barbara Mandriani; Massimo Carella; Orazio Palumbo; Stefano Vicari; Giuseppe Merla
Journal:  Eur J Hum Genet       Date:  2013-06-12       Impact factor: 4.246

6.  Deletion of 7q11.21-q11.23 and infantile spasms without deletion of MAGI2.

Authors:  Benno Röthlisberger; Irène Hoigné; Andreas R Huber; Wolfgang Brunschwiler; Andrea Capone Mori
Journal:  Am J Med Genet A       Date:  2010-02       Impact factor: 2.802
  6 in total

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