Literature DB >> 9823500

A case of Brachman de Lange syndrome with cerebellar vermis hypoplasia.

F Ozkinay, O Cogulu, C Gündüz, E Levent, C Ozkinay.   

Abstract

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Year:  1998        PMID： 9823500     DOI： 10.1097/00019605-199810000-00013

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN： 0962-8827            Impact factor:   0.816


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  8 in total

1.  Cornelia de Lange syndrome: Correlation of brain MRI findings with behavioral assessment.

Authors:  Tamanna R Roshan Lal; Mark A Kliewer; Thelma Lopes; Susan L Rebsamen; Julia O'Connor; Marco A Grados; Amy Kimball; Julia Clemens; Antonie D Kline
Journal:  Am J Med Genet C Semin Med Genet       Date:  2016-05-10       Impact factor: 3.908

2.  Neuroimaging features of Cornelia de Lange syndrome.

Authors:  Matthew T Whitehead; Usha D Nagaraj; Phillip L Pearl
Journal:  Pediatr Radiol       Date:  2015-02-21

Review 3.  Cohesin and human disease.

Authors:  Jinglan Liu; Ian D Krantz
Journal:  Annu Rev Genomics Hum Genet       Date:  2008       Impact factor: 8.929

Review 4.  Using mouse and zebrafish models to understand the etiology of developmental defects in Cornelia de Lange Syndrome.

Authors:  Shimako Kawauchi; Rosaysela Santos; Akihiko Muto; Martha E Lopez-Burks; Thomas F Schilling; Arthur D Lander; Anne L Calof
Journal:  Am J Med Genet C Semin Med Genet       Date:  2016-04-27       Impact factor: 3.908

Review 5.  Natural history of aging in Cornelia de Lange syndrome.

Authors:  Antonie D Kline; Marco Grados; Paul Sponseller; Howard P Levy; Natalie Blagowidow; Christianne Schoedel; Joni Rampolla; Douglas K Clemens; Ian Krantz; Amy Kimball; Carmen Pichard; David Tuchman
Journal:  Am J Med Genet C Semin Med Genet       Date:  2007-08-15       Impact factor: 3.908

6.  Rare cerebrovascular anomalies in a patient with Cornelia De Lange Syndrome.

Authors:  Jesse Jones; Gary Duckwiler; Satoshi Tateshima
Journal:  Surg Neurol Int       Date:  2015-05-08

7.  Multiple organ system defects and transcriptional dysregulation in the Nipbl(+/-) mouse, a model of Cornelia de Lange Syndrome.

Authors:  Shimako Kawauchi; Anne L Calof; Rosaysela Santos; Martha E Lopez-Burks; Clint M Young; Michelle P Hoang; Abigail Chua; Taotao Lao; Mark S Lechner; Jeremy A Daniel; Andre Nussenzweig; Leonard Kitzes; Kyoko Yokomori; Benedikt Hallgrimsson; Arthur D Lander
Journal:  PLoS Genet       Date:  2009-09-18       Impact factor: 5.917

Review 8.  Integrating molecular and structural findings: Wnt as a possible actor in shaping cognitive impairment in Cornelia de Lange syndrome.

Authors:  Laura Avagliano; Paolo Grazioli; Milena Mariani; Gaetano P Bulfamante; Angelo Selicorni; Valentina Massa
Journal:  Orphanet J Rare Dis       Date:  2017-11-21       Impact factor: 4.123
  8 in total

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