Literature DB >> 28553688

Clinical Features in Patients with Microdeletion at 6q14.1-q15.

Qing Zhou1, Xiao-Hui Wu1, Yi-Can Yang1, Chao-Chun Zou2.   

Abstract

Entities:  

Mesh：

Year:  2017        PMID： 28553688     DOI： 10.1007/s12098-017-2369-2

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


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  5 in total

Review 1.  Genetics of autism spectrum disorder.

Authors:  Sabine M Klauck
Journal:  Eur J Hum Genet       Date:  2006-06       Impact factor: 4.246

Review 2.  New insights into the phenotypes of 6q deletions.

Authors:  R J Hopkin; E Schorry; M Bofinger; A Milatovich; H J Stern; C Jayne; H M Saal
Journal:  Am J Med Genet       Date:  1997-06-27

3.  Characterization of an interstitial deletion 6q13-q14.1 in a female with mild mental retardation, language delay and minor dysmorphisms.

Authors:  James Lespinasse; Stefania Gimelli; Frédérique Béna; Stylianos E Antonarakis; François Ansermet; Ariane Paoloni-Giacobino
Journal:  Eur J Med Genet       Date:  2008-10-21       Impact factor: 2.708

4.  Strong association of de novo copy number mutations with autism.

Authors:  Jonathan Sebat; B Lakshmi; Dheeraj Malhotra; Jennifer Troge; Christa Lese-Martin; Tom Walsh; Boris Yamrom; Seungtai Yoon; Alex Krasnitz; Jude Kendall; Anthony Leotta; Deepa Pai; Ray Zhang; Yoon-Ha Lee; James Hicks; Sarah J Spence; Annette T Lee; Kaija Puura; Terho Lehtimäki; David Ledbetter; Peter K Gregersen; Joel Bregman; James S Sutcliffe; Vaidehi Jobanputra; Wendy Chung; Dorothy Warburton; Mary-Claire King; David Skuse; Daniel H Geschwind; T Conrad Gilliam; Kenny Ye; Michael Wigler
Journal:  Science       Date:  2007-03-15       Impact factor: 47.728

Review 5.  Further delineation of interstitial chromosome 6 deletion syndrome and review of the literature.

Authors:  Monica M Zherebtsov; Rachel T Klein; Hana Aviv; Gokce A Toruner; Nazeeh N Hanna; Susan Sklower Brooks
Journal:  Clin Dysmorphol       Date:  2007-07       Impact factor: 0.816
  5 in total
  1 in total

1.  Interstitial deletions in the proximal regions of 6q: 12 original cases and a literature review.

Authors:  Osamu Machida; Keiko Yamamoto Shimojima; Takashi Shiihara; Satoshi Akamine; Ryutaro Kira; Yuiko Hasegawa; Eriko Nishi; Nobuhiko Okamoto; Satoru Nagata; Toshiyuki Yamamoto
Journal:  Intractable Rare Dis Res       Date:  2022-08
  1 in total

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