Literature DB >> 30406597

13q22.1-q32.1 Microdeletion Syndrome.

Ming-Wei Li1,2, Xin-Yi Zou3, Chao-Chun Zou4.   

Abstract

Mesh：

Year:  2018        PMID： 30406597     DOI： 10.1007/s12098-018-2789-7

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


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  5 in total

1.  Interstitial deletion of distal 13q associated with Hirschsprung's disease.

Authors:  M A Lamont; M Fitchett; N R Dennis
Journal:  J Med Genet       Date:  1989-02       Impact factor: 6.318

2.  21 Mb deletion in chromosome band 13q22.2q32.1 associated with mild/moderate psychomotor retardation, growth hormone insufficiency, short neck, micrognathia, hypotonia, dysplastic ears and other dysmorphic features.

Authors:  Panagiota Grigori; Elena Panayiotou; Carolina Sismani; George Koumbaris; Marios Ioannides; Christos Costalos; Zoe Kosmaidou-Aravidou; Ludmila Kousoulidou; Philippos C Patsalis
Journal:  Eur J Med Genet       Date:  2011-02-24       Impact factor: 2.708

3.  22.5 MB DELETION OF 13q31.1-q34 ASSOCIATED WITH HPE, DWM, AND HSCR: A CASE REPORT AND REDEFINING THE SMALLEST DELETED REGIONS.

Authors:  M Y Alp; A H Çebi; S Seyhan; A Cansu; H Aydin; M Ikbal
Journal:  Genet Couns       Date:  2016

Review 4.  Preliminary definition of a "critical region" of chromosome 13 in q32: report of 14 cases with 13q deletions and review of the literature.

Authors:  S Brown; S Gersen; K Anyane-Yeboa; D Warburton
Journal:  Am J Med Genet       Date:  1993-01-01

5.  Phenotype and 244k array-CGH characterization of chromosome 13q deletions: an update of the phenotypic map of 13q21.1-qter.

Authors:  Maria Kirchhoff; Anne-Marie Bisgaard; Radka Stoeva; Boyan Dimitrov; Gabriele Gillessen-Kaesbach; Jean-Pierre Fryns; Hanne Rose; Liliana Grozdanova; Ivan Ivanov; Kathelijn Keymolen; Christina Fagerberg; Lisbeth Tranebjaerg; Flemming Skovby; Margarita Stefanova
Journal:  Am J Med Genet A       Date:  2009-05       Impact factor: 2.802
  5 in total

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