Literature DB >> 22140086

Does the 1.5 Mb microduplication in chromosome band Xp22.31 have a pathogenetic role? New contribution and a review of the literature.

Flavio Faletra, Adamo Pio D'Adamo, Maria Santa Rocca, Marco Carrozzi, Maria Dolores Perrone, Vanna Pecile, Paolo Gasparini.   

Abstract

Mesh：

Substances：

Year:  2011        PMID： 22140086     DOI： 10.1002/ajmg.a.34398

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


× No keyword cloud information.
  11 in total

1.  Sex chromosome aneuploidies and copy-number variants: a further explanation for neurodevelopmental prognosis variability?

Authors:  Jessica Le Gall; Mathilde Nizon; Olivier Pichon; Joris Andrieux; Séverine Audebert-Bellanger; Sabine Baron; Claire Beneteau; Frédéric Bilan; Odile Boute; Tiffany Busa; Valérie Cormier-Daire; Claude Ferec; Mélanie Fradin; Brigitte Gilbert-Dussardier; Sylvie Jaillard; Aia Jønch; Dominique Martin-Coignard; Sandra Mercier; Sébastien Moutton; Caroline Rooryck; Elise Schaefer; Marie Vincent; Damien Sanlaville; Cédric Le Caignec; Sébastien Jacquemont; Albert David; Bertrand Isidor
Journal:  Eur J Hum Genet       Date:  2017-06-14       Impact factor: 4.246

2.  Microcephaly/Trigonocephaly, Intellectual Disability, Autism Spectrum Disorder, and Atypical Dysmorphic Features in a Boy with Xp22.31 Duplication.

Authors:  Piero Pavone; Giovanni Corsello; Silvia Marino; Martino Ruggieri; Raffaele Falsaperla
Journal:  Mol Syndromol       Date:  2018-10-02

3.  Severe Neurological Phenotype in a Girl with Xp22.31 Triplication.

Authors:  Antonio Polo-Antúnez; Ignacio Arroyo-Carrera
Journal:  Mol Syndromol       Date:  2017-05-18

4.  Copy number variation plays an important role in clinical epilepsy.

Authors:  Heather Olson; Yiping Shen; Jennifer Avallone; Beth R Sheidley; Rebecca Pinsky; Ann M Bergin; Gerard T Berry; Frank H Duffy; Yaman Eksioglu; David J Harris; Fuki M Hisama; Eugenia Ho; Mira Irons; Christina M Jacobsen; Philip James; Sanjeev Kothare; Omar Khwaja; Jonathan Lipton; Tobias Loddenkemper; Jennifer Markowitz; Kiran Maski; J Thomas Megerian; Edward Neilan; Peter C Raffalli; Michael Robbins; Amy Roberts; Eugene Roe; Caitlin Rollins; Mustafa Sahin; Dean Sarco; Alison Schonwald; Sharon E Smith; Janet Soul; Joan M Stoler; Masanori Takeoka; Wen-Han Tan; Alcy R Torres; Peter Tsai; David K Urion; Laura Weissman; Robert Wolff; Bai-Lin Wu; David T Miller; Annapurna Poduri
Journal:  Ann Neurol       Date:  2014-06-13       Impact factor: 10.422

5.  A 6q14.1-q15 microdeletion in a male patient with severe autistic disorder, lack of oral language, and dysmorphic features with concomitant presence of a maternally inherited Xp22.31 copy number gain.

Authors:  Ines Quintela; Montse Fernandez-Prieto; Lorena Gomez-Guerrero; Mariela Resches; Jesus Eiris; Francisco Barros; Angel Carracedo
Journal:  Clin Case Rep       Date:  2015-04-09

6.  Angelman Syndrome due to familial translocation: unexpected additional results characterized by Microarray-based Comparative Genomic Hybridization.

Authors:  Emiy Yokoyama-Rebollar; Adriana Ruiz-Herrera; Esther Lieberman-Hernández; Victoria Del Castillo-Ruiz; Silvia Sánchez-Sandoval; Silvia M Ávila-Flores; José Luis Castrillo
Journal:  Mol Cytogenet       Date:  2015-04-09       Impact factor: 2.009

7.  Microduplication of Xp22.31 and MECP2 Pathogenic Variant in a Girl with Rett Syndrome: A Case Report.

Authors:  Estephania Candelo; Diana Ramirez-Montaño; Harry Pachajoa
Journal:  Iran J Med Sci       Date:  2019-07

8.  A prenatal diagnosis and genetics study of five pedigrees in the Chinese population with Xp22.31 microduplication.

Authors:  Jianlong Zhuang; Yuanbai Wang; Shuhong Zeng; Chunling Lv; Yiming Lin; Yuying Jiang
Journal:  Mol Cytogenet       Date:  2019-12-11       Impact factor: 2.009

9.  Medical and neurobehavioural phenotypes in male and female carriers of Xp22.31 duplications in the UK Biobank.

Authors:  Samuel J A Gubb; Lucija Brcic; Jack F G Underwood; Kimberley M Kendall; Xavier Caseras; George Kirov; William Davies
Journal:  Hum Mol Genet       Date:  2020-10-10       Impact factor: 6.150

10.  A genomic copy number variant analysis implicates the MBD5 and HNRNPU genes in Chinese children with infantile spasms and expands the clinical spectrum of 2q23.1 deletion.

Authors:  Xiaonan Du; Yu An; Lifei Yu; Renchao Liu; Yanrong Qin; Xiaohong Guo; Daokan Sun; Shuizhen Zhou; Bailin Wu; Yong-Hui Jiang; Yi Wang
Journal:  BMC Med Genet       Date:  2014-05-29       Impact factor: 2.103
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.