Literature DB >> 20425843

Cytogenetic and array-CGH characterization of a 6q27 deletion in a patient with developmental delay and features of Ehlers-Danlos syndrome.

A L Mosca1, P Callier, A Masurel-Paulet, C Thauvin-Robinet, N Marle, M Nouchy, F Huet, D Dipanda, A De Paepe, P Coucke, F Mugneret, L Faivre.   

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Year:  2010        PMID： 20425843     DOI： 10.1002/ajmg.a.33254

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


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  6 in total

1.  Defining the Critical Region for Intellectual Disability and Brain Malformations in 6q27 Microdeletions.

Authors:  Marcela D Hanna; Patricia N Moretti; Claudiner P de Oliveira; Maria T A Rosa; Beatriz R Versiani; Silviene F de Oliveira; Aline Pic-Taylor; Juliana F Mazzeu
Journal:  Mol Syndromol       Date:  2019-06-21

2.  The Effects of 6q26-q27 Terminal Deletion on Intellectual Disability & Brain Malformations and the Genotype/Phenotype Relationship: A Case Report.

Authors:  Veysel Özdağ; Yaşar Tanir
Journal:  Noro Psikiyatr Ars       Date:  2022-08-16       Impact factor: 1.066

3.  Genotype-Phenotype Correlations for Putative Haploinsufficient Genes in Deletions of 6q26-q27: Report of Eight Patients and Review of Literature.

Authors:  Xiaolei Xie; Hongyan Chai; Autumn DiAdamo; Brittany Grommisch; Jiadi Wen; Hui Zhang; Peining Li
Journal:  Glob Med Genet       Date:  2022-03-11

Review 4.  Neurological manifestations of Ehlers-Danlos syndrome(s): A review.

Authors:  Marco Castori; Nicol C Voermans
Journal:  Iran J Neurol       Date:  2014-10-06

5.  Developmental Coordination Disorder in a Patient with Mental Disability and a Mild Phenotype Carrying Terminal 6q26-qter Deletion.

Authors:  Marianna De Cinque; Orazio Palumbo; Ermelinda Mazzucco; Antonella Simone; Pietro Palumbo; Renata Ciavatta; Giuliana Maria; Rosangela Ferese; Stefano Gambardella; Antonella Angiolillo; Massimo Carella; Silvio Garofalo
Journal:  Front Genet       Date:  2017-12-06       Impact factor: 4.599

Review 6.  Delineation of candidate genes responsible for structural brain abnormalities in patients with terminal deletions of chromosome 6q27.

Authors:  Sirisha Peddibhotla; Sandesh C S Nagamani; Ayelet Erez; Jill V Hunter; J Lloyd Holder; Mary E Carlin; Patricia I Bader; Helene M F Perras; Judith E Allanson; Leslie Newman; Gayle Simpson; LaDonna Immken; Erin Powell; Aaron Mohanty; Sung-Hae L Kang; Pawel Stankiewicz; Carlos A Bacino; Weimin Bi; Ankita Patel; Sau W Cheung
Journal:  Eur J Hum Genet       Date:  2014-04-16       Impact factor: 4.246
  6 in total

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