Periventricular nodular heterotopia and transverse limb reduction defect in a woman with interstitial 11q24 deletion in the Jacobsen syndrome region-Reference-Cited by-同舟云学术

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Periventricular nodular heterotopia and transverse limb reduction defect in a woman with interstitial 11q24 deletion in the Jacobsen syndrome region

Published:2013-12-05 Issue:2 Volume:164 Page:511-515
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

So Joyce¹²,Stockley Tracy²³,Stavropoulos Dimitri J.²³

Affiliation:

1. Department of Clinical Genetics; Lakeridge Health Oshawa; Oshawa Ontario Canada

2. Department of Laboratory Medicine and Pathobiology; University of Toronto; Toronto Ontario Canada

3. Department of Pediatric Laboratory Medicine; The Hospital for Sick Children; Toronto Ontario Canada

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36292/fullpdf

Reference19 articles.

1. Mutations in CDON, encoding a Hedgehog receptor, result in holoprosencephaly and defective interactions with other Hedgehog receptors;Bae;Am J Hum Genet,2011

2. Alterations in CDH15 and KIRREL3 in patients with mild to severe intellectual disability;Bhalla;Am J Hum Genet,2008

3. Periventricular nodular heterotopia and distal limb deficiency: A recurrent association;de Wit;Am J Med Genet Part A,2010

4. Transverse limb defect in a patient with Jacobsen syndrome: Concurrence of malformation and disruption;Fujita;Am J Med Genet Part A,2010

5. Ets-1 is essential for connective tissue growth factor (CTGF/CCN2) induction by TGF-b1 in osteoblasts;Geisinger;PLoS ONE,2012

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1. Periventricular Heterotopias: Neuroependymal Abnormalities;Journal of Pediatric Neurology;2024-05-29

2. Jacobsen’s syndrome: case report;Allergology and Immunology in Paediatrics;2024-05-05

3. Impact of Genetic Disorders in the Surgical Management of Congenital Heart Disease;World Journal for Pediatric and Congenital Heart Surgery;2023-03

4. First Report of Jacobsen Syndrome with Dextrocardia Diagnosed with del(11)(q24q25);Molecular Syndromology;2022

5. Investigation of Genetic Alterations in Congenital Heart Diseases in Prenatal Period;Global Medical Genetics;2021-11-09

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