Literature DB >> 18553512

A child with features of Goldenhar syndrome and a novel 1.12 Mb deletion in 22q11.2 by cytogenetics and oligonucleotide array CGH: is this a candidate region for the syndrome?

J Xu1, Y S Fan, V M Siu.   

Abstract

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Year:  2008        PMID： 18553512     DOI： 10.1002/ajmg.a.32359

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  9 in total

Review 1.  Microarray-Based Comparative Genomic Hybridization, Multiplex Ligation-Dependent Probe Amplification, and High-Resolution Karyotype for Differential Diagnosis Oculoauriculovertebral Spectrum: A Systematic Review.

Authors:  Andressa Barreto Glaeser; Bruna Lixinski Diniz; Desirée Deconte; Andressa Schneiders Santos; Rafael Fabiano Machado Rosa; Paulo Ricardo Gazzola Zen
Journal:  J Pediatr Genet       Date:  2020-05-27

2.  Deletion of TOP3B Is Associated with Cognitive Impairment and Facial Dysmorphism.

Authors:  Carolyn S Kaufman; Ann Genovese; Merlin G Butler
Journal:  Cytogenet Genome Res       Date:  2016-11-24       Impact factor: 1.636

3.  Three patients with oculo-auriculo-vertebral spectrum and microdeletion 22q11.2.

Authors:  M Cristina Digilio; Donna M McDonald-McGinn; Carrie Heike; Charles Catania; Bruno Dallapiccola; Bruno Marino; Elaine H Zackai
Journal:  Am J Med Genet A       Date:  2009-12       Impact factor: 2.802

4.  22q11.2 Distal Deletion Syndrome: Description of a New Case with Truncus Arteriosus Type 2 and Review.

Authors:  L Garavelli; S Rosato; A Wischmeijer; C Gelmini; A Esposito; L Mazzanti; F Franchi; A De Crescenzo; O Palumbo; M Carella; A Riccio
Journal:  Mol Syndromol       Date:  2011-12-05

5.  Numerical Processing Impairment in 22q11.2 (LCR22-4 to LCR22-5) Microdeletion: A Cognitive-Neuropsychological Case Study.

Authors:  Lívia de Fátima Silva Oliveira; Annelise Júlio-Costa; Fernanda Caroline Dos Santos; Maria Raquel Santos Carvalho; Vitor Geraldi Haase
Journal:  Front Psychol       Date:  2018-11-21

6.  Rare single-nucleotide variants in oculo-auriculo-vertebral spectrum (OAVS).

Authors:  Malú Zamariolli; Mileny Colovati; Mariana Moysés-Oliveira; Natália Nunes; Leonardo Caires Dos Santos; Ana B Alvarez Perez; Silvia Bragagnolo; Maria Isabel Melaragno
Journal:  Mol Genet Genomic Med       Date:  2019-08-30       Impact factor: 2.183

7.  Behavioral abnormalities are common and severe in patients with distal 22q11.2 microdeletions and microduplications.

Authors:  Valerie Lindgren; Anne McRae; Richard Dineen; Alexandria Saulsberry; George Hoganson; Michael Schrift
Journal:  Mol Genet Genomic Med       Date:  2015-04-16       Impact factor: 2.183

8.  PKA activation and endothelial claudin-5 breakdown in the schizophrenic prefrontal cortex.

Authors:  Keisuke Nishiura; Naoki Ichikawa-Tomikawa; Kotaro Sugimoto; Yasuto Kunii; Korehito Kashiwagi; Mizuko Tanaka; Yuichi Yokoyama; Mizuki Hino; Takashi Sugino; Hirooki Yabe; Hitoshi Takahashi; Akiyoshi Kakita; Tetsuya Imura; Hideki Chiba
Journal:  Oncotarget       Date:  2017-10-16

9.  Functional and genetic analyses of ZYG11B provide evidences for its involvement in OAVS.

Authors:  Angèle Tingaud-Sequeira; Aurélien Trimouille; Sandrine Marlin; Estelle Lopez; Marie Berenguer; Souad Gherbi; Benoit Arveiler; Didier Lacombe; Caroline Rooryck
Journal:  Mol Genet Genomic Med       Date:  2020-08-01       Impact factor: 2.183
  9 in total

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