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Literature DB >> 20683992

Microdeletion of 16p11.2 associated with endocardial fibroelastosis.

Surasak Puvabanditsin¹, Michael S Nagar, Meera Joshi, George Lambert, Eugene Garrow, Erik Brandsma.

Abstract

Entities: Disease

Mesh：

Year: 2010 PMID： 20683992 DOI： 10.1002/ajmg.a.33562

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

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Cited

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8 in total

1. 16p11.2 Deletion Syndrome Mice Display Sensory and Ultrasonic Vocalization Deficits During Social Interactions.

Authors: Mu Yang; Elena J Mahrt; Freeman Lewis; Gillian Foley; Thomas Portmann; Ricardo E Dolmetsch; Christine V Portfors; Jacqueline N Crawley
Journal: Autism Res Date: 2015-02-07 Impact factor: 5.216

Review 2. Genetic diagnosis of autism spectrum disorders: the opportunity and challenge in the genomics era.

Authors: Yong-Hui Jiang; Yi Wang; Xu Xiu; Kwong Wai Choy; Amber Nolen Pursley; Sau W Cheung
Journal: Crit Rev Clin Lab Sci Date: 2014-05-30 Impact factor: 6.250

3. A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders.

Authors: Flore Zufferey; Elliott H Sherr; Noam D Beckmann; Ellen Hanson; Anne M Maillard; Loyse Hippolyte; Aurélien Macé; Carina Ferrari; Zoltán Kutalik; Joris Andrieux; Elizabeth Aylward; Mandy Barker; Raphael Bernier; Sonia Bouquillon; Philippe Conus; Bruno Delobel; W Andrew Faucett; Robin P Goin-Kochel; Ellen Grant; Louise Harewood; Jill V Hunter; Sébastien Lebon; David H Ledbetter; Christa Lese Martin; Katrin Männik; Danielle Martinet; Pratik Mukherjee; Melissa B Ramocki; Sarah J Spence; Kyle J Steinman; Jennifer Tjernagel; John E Spiro; Alexandre Reymond; Jacques S Beckmann; Wendy K Chung; Sébastien Jacquemont
Journal: J Med Genet Date: 2012-10 Impact factor: 6.318

4. Cytogenomic Evaluation of Subjects with Syndromic and Nonsyndromic Conotruncal Heart Defects.

Authors: Karen Regina de Souza; Rafaella Mergener; Janaina Huber; Lucia Campos Pellanda; Mariluce Riegel
Journal: Biomed Res Int Date: 2015-06-07 Impact factor: 3.411

5. Zebrafish homologs of genes within 16p11.2, a genomic region associated with brain disorders, are active during brain development, and include two deletion dosage sensor genes.

Authors: Alicia Blaker-Lee; Sunny Gupta; Jasmine M McCammon; Gianluca De Rienzo; Hazel Sive
Journal: Dis Model Mech Date: 2012-05-01 Impact factor: 5.758

Microdeletion of 16p11.2 associated with endocardial fibroelastosis.

1. 16p11.2 Deletion Syndrome Mice Display Sensory and Ultrasonic Vocalization Deficits During Social Interactions.

Review 2. Genetic diagnosis of autism spectrum disorders: the opportunity and challenge in the genomics era.

3. A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders.

4. Cytogenomic Evaluation of Subjects with Syndromic and Nonsyndromic Conotruncal Heart Defects.

5. Zebrafish homologs of genes within 16p11.2, a genomic region associated with brain disorders, are active during brain development, and include two deletion dosage sensor genes.

6. Modulation of mu attenuation to social stimuli in children and adults with 16p11.2 deletions and duplications.

7. 16p11.2 Deletion mice display cognitive deficits in touchscreen learning and novelty recognition tasks.

8. Longitudinal report of child with de novo 16p11.2 triplication.