Literature DB >> 36262789

A Rare Case of Dysmorphism with Duplication in Chromosome 22.

Mln Deepika1, Sunitha Tella1, Srilekha Avvari1, Nallari Pratibha1, Venkateshwari Ananthapur1.   

Abstract

Entities:  

Year:  2021        PMID： 36262789      PMCID： PMC9573841          DOI： 10.1007/s12291-020-00945-y

Source DB:  PubMed          Journal:  Indian J Clin Biochem        ISSN： 0970-1915


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  11 in total

1.  Chromosome preparations of leukocytes cultured from human peripheral blood.

Authors:  P S MOORHEAD; P C NOWELL; W J MELLMAN; D M BATTIPS; D A HUNGERFORD
Journal:  Exp Cell Res       Date:  1960-09       Impact factor: 3.905

2.  22q12.3 microduplication overlapping the LARGE gene as a male-only affected loci responsible for increasing the risk of autism spectrum disorder.

Authors:  Xuan Huang; Yingjun Xie; Qun Fang
Journal:  Biomed Rep       Date:  2017-06-07

3.  A rapid banding technique for human chromosomes.

Authors:  M Seabright
Journal:  Lancet       Date:  1971-10-30       Impact factor: 79.321

Review 4.  Cryptic duplication of the distal segment of 22q due to a translocation (21;22): three case reports and a review of the literature.

Authors:  I Feenstra; D A Koolen; J Van der Pas; B C J Hamel; H Mieloo; D F C M Smeets; C M A Van Ravenswaaij
Journal:  Eur J Med Genet       Date:  2006-02-09       Impact factor: 2.708

5.  The 22q13.3 Deletion Syndrome (Phelan-McDermid Syndrome).

Authors:  K Phelan; H E McDermid
Journal:  Mol Syndromol       Date:  2011-11-22

6.  A 7 Mb duplication at 22q13 in a girl with bipolar disorder and hippocampal malformation.

Authors:  Tiziano Pramparo; Manuela de Gregori; Stefania Gimelli; Roberto Ciccone; Domenico Frondizi; Thomas Liehr; Simona Pellacani; Gabriele Masi; Paola Brovedani; Orsetta Zuffardi; Renzo Guerrini
Journal:  Am J Med Genet A       Date:  2008-07-01       Impact factor: 2.802

7.  22q13 Microduplication in two patients with common clinical manifestations: a recognizable syndrome?

Authors:  Nobuhiko Okamoto; Takeo Kubota; Yutaka Nakamura; Ryusuke Murakami; Toshiya Nishikubo; Ichiro Tanaka; Yukihiro Takahashi; Shin Hayashi; Issei Imoto; Johji Inazawa; Noboru Hosokai; Shinichi Kohsaka; Shigeo Uchino
Journal:  Am J Med Genet A       Date:  2007-12-01       Impact factor: 2.802

Review 8.  Detection of a subtle rearrangement of chromosome 22 using molecular techniques.

Authors:  L G Biesecker; M Rosenberg; L Dziadzio; D H Ledbetter; Y Ning; C Sarneso; K Rosenbaum
Journal:  Am J Med Genet       Date:  1995-09-25

Review 9.  Neurexins and neuroligins: recent insights from invertebrates.

Authors:  David Knight; Wei Xie; Gabrielle L Boulianne
Journal:  Mol Neurobiol       Date:  2011-10-30       Impact factor: 5.590

10.  SNP array and FISH analysis of a proband with a 22q13.2- 22qter duplication shed light on the molecular origin of the rearrangement.

Authors:  Chiara Magri; Eleonora Marchina; Valeria Bertini; Michele Traversa; Giulia Savio; Alba Pilotta; Giovanna Piovani
Journal:  BMC Med Genet       Date:  2015-07-07       Impact factor: 2.103
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