Microcephaly, epilepsy, and neonatal diabetes due to compound heterozygous mutations inIER3IP1: insights into the natural history of a rare disorder-Reference-Cited by-同舟云学术

Microcephaly, epilepsy, and neonatal diabetes due to compound heterozygous mutations inIER3IP1: insights into the natural history of a rare disorder

Published:2013-10-21 Issue:3 Volume:15 Page:252-256
ISSN:1399-543X
Container-title:Pediatric Diabetes
language:en
Short-container-title:Pediatr Diabetes

Author:

Shalev Stavit A¹,Tenenbaum-Rakover Yardena²,Horovitz Yoseph³,Paz Veronica P⁴,Ye Honggang⁴,Carmody David⁴,Highland Heather M⁵,Boerwinkle Eric⁵⁶,Hanis Craig L⁵,Muzny Donna M⁶,Gibbs Richard A⁶,Bell Graeme I⁴,Philipson Louis H⁴,Greeley Siri Atma W⁴

Affiliation:

1. The Genetic Institute; Emek Medical Center, Afula, and Rapapport Faculty of Medicine, Technion; Haifa Israel

2. Pediatric Endocrinology Unit; Emek Medical Center, Afula, and Rapapport Faculty of Medicine, Technion; Haifa Israel

3. Pediatric Department; Emek Medical Center, Afula, and Rapapport Faculty of Medicine, Technion; Haifa Israel

4. Section of Adult and Pediatric Endocrinology, Diabetes, & Metabolism; The University of Chicago; 5841 South Maryland Avenue, MC 1027 Chicago IL 60637 USA

5. Human Genetics Center; The University of Texas Health Science Center at Houston; P. O. Box 20186 Houston TX 77225 USA

6. Human Genome Sequencing Center; Baylor College of Medicine; One Baylor Plaza Houston TX 77030 USA

Publisher

Wiley

Subject

Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology, and Child Health,Internal Medicine

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/pedi.12086/fullpdf

Reference10 articles.

1. Neonatal diabetes: an expanding list of genes allows for improved diagnosis and treatment;Greeley;Curr Diab Rep,2011

2. Microcephaly with simplified gyration, epilepsy, and infantile diabetes linked to inappropriate apoptosis of neural progenitors;Poulton;Am J Hum Genet,2011

3. A homozygous IER3IP1 mutation causes microcephaly with simplified gyral pattern, epilepsy, and permanent neonatal diabetes syndrome (MEDS);Abdel-Salam;Am J Med Genet,2012

4. Fast and accurate short read alignment with Burrows-Wheeler transform;Li;Bioinformatics,2009

5. An integrative variant analysis suite for whole exome next-generation sequencing data;Challis;BMC Bioinformatics,2012

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1. IER3IP1-mutations cause microcephaly by selective inhibition of ER-Golgi transport;Cellular and Molecular Life Sciences;2024-08-08

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3. IER3IP1-mutations cause microcephaly by selective inhibition of ER-Golgi transport;2024-01-17

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5. Essential requirement for IER3IP1 in B cell development;Proceedings of the National Academy of Sciences;2023-11-07