Literature DB >> 21107783

A new case of duplication of the MDS region identified by high-density SNP arrays and a review of the literature.

Flavio Faletra1, Raffaella Devescovi, Vanna Pecile, Antonella Fabretto, Marco Carrozzi, Paolo Gasparini.   

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Year:  2010        PMID： 21107783     DOI： 10.1007/s13353-010-0004-2

Source DB:  PubMed          Journal:  J Appl Genet        ISSN： 1234-1983            Impact factor:   3.240


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  11 in total

1.  Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes.

Authors:  Damien L Bruno; Britt-Marie Anderlid; Anna Lindstrand; Conny van Ravenswaaij-Arts; Devika Ganesamoorthy; Johanna Lundin; Christa Lese Martin; Jessica Douglas; Catherine Nowak; Margaret P Adam; R Frank Kooy; Nathalie Van der Aa; Edwin Reyniers; Geert Vandeweyer; Irene Stolte-Dijkstra; Trijnie Dijkhuizen; Alison Yeung; Martin Delatycki; Birgit Borgström; Lena Thelin; Carlos Cardoso; Bregje van Bon; Rolph Pfundt; Bert B A de Vries; Anders Wallin; David J Amor; Paul A James; Howard R Slater; Jacqueline Schoumans
Journal:  J Med Genet       Date:  2010-05       Impact factor: 6.318

2.  Listen carefully: LIS1 and DCX MLPA in lissencephaly and subcortical band heterotopia.

Authors:  Martin B Delatycki; Richard J Leventer
Journal:  Eur J Hum Genet       Date:  2008-12-03       Impact factor: 4.246

3.  Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3.

Authors:  Carlos Cardoso; Richard J Leventer; Heather L Ward; Kazuhito Toyo-Oka; June Chung; Alyssa Gross; Christa L Martin; Judith Allanson; Daniela T Pilz; Ann H Olney; Osvaldo M Mutchinick; Shinji Hirotsune; Anthony Wynshaw-Boris; William B Dobyns; David H Ledbetter
Journal:  Am J Hum Genet       Date:  2003-03-05       Impact factor: 11.025

4.  LIS1-related isolated lissencephaly: spectrum of mutations and relationships with malformation severity.

Authors:  Yoann Saillour; Nathalie Carion; Chloé Quelin; Pierre-Louis Leger; Nathalie Boddaert; Caroline Elie; Annick Toutain; Sandra Mercier; Marie Anne Barthez; Mathieu Milh; Sylvie Joriot; Vincent des Portes; Nicole Philip; Dominique Broglin; Agathe Roubertie; Gaelle Pitelet; Marie Laure Moutard; Jean Marc Pinard; Claude Cances; Anna Kaminska; Jamel Chelly; Chérif Beldjord; Nadia Bahi-Buisson
Journal:  Arch Neurol       Date:  2009-08

5.  High frequency of genomic deletions--and a duplication--in the LIS1 gene in lissencephaly: implications for molecular diagnosis.

Authors:  D Mei; R Lewis; E Parrini; L P Lazarou; C Marini; D T Pilz; R Guerrini
Journal:  J Med Genet       Date:  2008-02-19       Impact factor: 6.318

6.  Intragenic deletions and duplications of the LIS1 and DCX genes: a major disease-causing mechanism in lissencephaly and subcortical band heterotopia.

Authors:  Eden V Haverfield; Amanda J Whited; Kristin S Petras; William B Dobyns; Soma Das
Journal:  Eur J Hum Genet       Date:  2008-12-03       Impact factor: 4.246

Review 7.  CNV and nervous system diseases--what's new?

Authors:  W Gu; J R Lupski
Journal:  Cytogenet Genome Res       Date:  2009-03-11       Impact factor: 1.636

8.  Increased LIS1 expression affects human and mouse brain development.

Authors:  Weimin Bi; Tamar Sapir; Oleg A Shchelochkov; Feng Zhang; Marjorie A Withers; Jill V Hunter; Talia Levy; Vera Shinder; Daniel A Peiffer; Kevin L Gunderson; Marjan M Nezarati; Vern Ann Shotts; Stephen S Amato; Sarah K Savage; David J Harris; Debra-Lynn Day-Salvatore; Michele Horner; Xin-Yan Lu; Trilochan Sahoo; Yuchio Yanagawa; Arthur L Beaudet; Sau Wai Cheung; Salvador Martinez; James R Lupski; Orly Reiner
Journal:  Nat Genet       Date:  2009-01-11       Impact factor: 38.330

Review 9.  Neuronal migration disorders: clinical, neuroradiologic and genetics aspects.

Authors:  Alberto Spalice; Pasquale Parisi; Francesco Nicita; Giorgia Pizzardi; Francesca Del Balzo; Paola Iannetti
Journal:  Acta Paediatr       Date:  2008-12-16       Impact factor: 2.299

10.  A new microduplication syndrome encompassing the region of the Miller-Dieker (17p13 deletion) syndrome.

Authors:  L Roos; A E Jønch; S Kjaergaard; K Taudorf; H Simonsen; B Hamborg-Petersen; K Brøndum-Nielsen; M Kirchhoff
Journal:  J Med Genet       Date:  2009-06-10       Impact factor: 6.318
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  1 in total

1.  Duplication of the Miller-Dieker Critical Region in a Patient with a Subtelomeric Unbalanced Translocation t(10;17)(p15.3;p13.3).

Authors:  R Ruiz Esparza-Garrido; A C Velázquez-Wong; M A Araujo-Solís; J C Huicochea-Montiel; M Á Velázquez-Flores; F Salamanca-Gómez; D J Arenas-Aranda
Journal:  Mol Syndromol       Date:  2012-07-10
  1 in total

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