Unusual 4p16.3 deletions suggest an additional chromosome region for the Wolf-Hirschhorn syndrome-associated seizures disorder-Reference-Cited by-同舟云学术

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Unusual 4p16.3 deletions suggest an additional chromosome region for the Wolf-Hirschhorn syndrome-associated seizures disorder

Published:2014-04-16 Issue:6 Volume:55 Page:849-857
ISSN:0013-9580
Container-title:Epilepsia
language:en
Short-container-title:Epilepsia

Author:

Zollino Marcella¹,Orteschi Daniela¹,Ruiter Mariken²,Pfundt Rolph²,Steindl Katharina³,Cafiero Concetta¹,Ricciardi Stefania¹,Contaldo Ilaria⁴,Chieffo Daniela⁴,Ranalli Domiziana⁴,Acquafondata Celeste⁵,Murdolo Marina¹,Marangi Giuseppe¹,Asaro Alessia¹,Battaglia Domenica⁴

Affiliation:

1. Institute of Medical Genetics; Catholic University; University Hospital A. Gemelli; Roma Italy

2. Department of Human Genetics; Radboud University Nijmegen Medical Centre; Nijmegen The Netherlands

3. Institute of Medical Genetics; University of Zurich; Zurich Switzerland

4. Department of Pediatric Neurology; Catholic University; University Hospital A. Gemelli; Roma Italy

5. Institute Santa Caterina; Francavilla (Chieti) Italy

Funder

Italian Association Wolf-Hirschhorn syndrome

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/epi.12617/fullpdf

Reference28 articles.

1. Update on the clinical features and natural history of Wolf-Hirschhorn (4p-) syndrome: experience with 87 patients and recommendations for routine health supervision;Battaglia;Am J Med Genet,2008

2. Genotype-phenotype correlation in 21 patients with Wolf-Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH);Maas;J Med Genet,2008

3. On the nosology and pathogenesis of Wolf-Hirschhorn syndrome: genotype-phenotype correlation analysis of 80 patients and literature review;Zollino;Am J Med Genet,2008

4. Mapping the Wolf-Hirschhorn syndrome phenotype outside the currently accepted WHS critical region and defining a new critical region, WHSCR-2;Zollino;Am J Hum Genet,2003

5. The LETM1/YOL027 gene family encodes a factor of the mitochondrial K+ homeostasis with a potential role in the Wolf-Hirschhorn syndrome;Nowikovsky;J Biol Chem,2004

Cited by 30 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A Familial Chromosome 4p16.3 Terminal Microdeletion That Does Not Cause Wolf-Hirschhorn (4p-) syndrome;2024-07-16

2. Epilepsy and congenital cerebral palsy: Parallels between the location of genome anomalies and clinical manifestations;Russian Journal of Child Neurology;2024-04-07

3. Detection of 4p16.3 deletion and 11p15.5p15.4 gain in a boy by comparative genomic hybridization array: A case report;World Journal of Clinical Cases;2024-03-16

4. Genome-wide CRISPR-Cas9 screen analyzed by SLIDER identifies network of repressor complexes that regulate TRIM24;iScience;2023-07

5. Genotype-phenotype correlation of deletions and duplications of 4p: case reports and literature review;Frontiers in Genetics;2023-06-14

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