Tyrosinemia type 1 and Angelman syndrome due to paternal uniparental isodisomy 15-Reference-Cited by-同舟云学术

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Tyrosinemia type 1 and Angelman syndrome due to paternal uniparental isodisomy 15

Published:2009-12 Issue:S1 Volume:32 Page:349-353
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Ferrer-Bolufer Irene,Dalmau Jaime,Quiroga Ramiro,Oltra Silvestre,Orellana Carmen,Monfort Sandra,Roselló Mónica,De La Osa Alberto,Martinez Francisco

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s10545-009-9014-9

Reference14 articles.

1. Chan CT, Clayton-Smith J, Cheng XJ, Buxton J, Webb T, Pembrey ME, Malcolm S (1993) Molecular mechanisms in Angelman syndrome: a survey of 93 patients. J Med Genet 30(11):895–902

2. Clayton-Smith J, Laan L (2003) Angelman syndrome: a review of the clinical and genetic aspects. J Med Genet 40(2):87–95

3. Engel E (1980) A new genetic concept: uniparental disomy and its potential effect, isodisomy. Am J Med Genet 6:137–143

4. Engel E (2006) A fascination with chromosome rescue in uniparental disomy: Mendelian recessive outlaws and imprinting copyrights infringements. Eur J Hum Genet 14(11):1158–1169

5. Hussain K, Flanagan SE, Smith VV et al (2008) An ABCC8 gene mutation and mosaic uniparental isodisomy resulting in atypical diffuse congenital hyperinsulinism. Diabetes 57(1):259–263

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1. Blended phenotype of combination of HERC2 and AP3B2 deficiency and Angelman syndrome caused by paternal isodisomy of chromosome 15;American Journal of Medical Genetics Part A;2021-05-27

2. Angelman syndrome and isovaleric acidemia: What is the link?;Molecular Genetics and Metabolism Reports;2015-06

3. A novel approach to determine the tyrosine concentration in human plasma by DART-MS/MS;Analytical Methods;2015

4. Mosaic maternal uniparental disomy of chromosome 15 in Prader-Willi syndrome: Utility of genome-wide SNP array;American Journal of Medical Genetics Part A;2012-12-07

5. New mechanisms involved in paternal 20q disomy associated with pseudohypoparathyroidism;European Journal of Endocrinology;2010-12

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