Publications by authors named "Aida M Bertoli-Avella"

55Publications

Biallelic Pathogenic Variants Cause Autosomal Recessive Bilateral Renal Agenesis.

J Am Soc Nephrol 2020 10 5. Epub 2020 Oct 5.

Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India

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http://dx.doi.org/10.1681/ASN.2020040478DOI Listing
October 2020

Acute liver failure in a male patient with NGLY1-congenital disorder of deglycosylation.

Eur J Med Genet 2020 Aug 15;63(8):103952. Epub 2020 May 15.

Service of Genetics and Cytogenetics Unit, Division of Pediatrics, 'Dr. Juan I. Menchaca' Civil Hospital of Guadalajara, Mexico; University of Guadalajara, Health Sciences University Center, Department of Molecular Biology and Genomics, 'Dr. Enrique Corona-Rivera' Institute of Human Genetics, Guadalajara, Jalisco, Mexico. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2020.103952DOI Listing
August 2020

Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases.

Acta Neuropathol 2020 03 9;139(3):415-442. Epub 2019 Dec 9.

Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1007/s00401-019-02109-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7035241PMC
March 2020

A comprehensive global genotype-phenotype database for rare diseases.

Mol Genet Genomic Med 2017 Jan 23;5(1):66-75. Epub 2016 Nov 23.

Centogene AGRostockGermany; Albrecht-Kossel-Institute for NeuroregenerationMedical University RostockRostockGermany.

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http://dx.doi.org/10.1002/mgg3.262DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5241210PMC
January 2017

Frequent users of the emergency department services in the largest academic hospital in the Netherlands: a 5-year report.

Eur J Emerg Med 2017 Apr;24(2):130-135

aDepartment of Emergency Medicine bDepartment of Public Health, Erasmus University Medical Centre, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1097/MEJ.0000000000000314DOI Listing
April 2017

Systematic review of frequent users of emergency departments in non-US hospitals: state of the art.

Eur J Emerg Med 2015 Oct;22(5):306-15

Departments of aEmergency Medicine bPublic Health, Erasmus University Medical Centre, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1097/MEJ.0000000000000242DOI Listing
October 2015

[Patients with aneurysms and osteoarthritis: Marfan syndrome ruled out, so what is it?].

Ned Tijdschr Geneeskd 2013 ;157(21):A5588

Erasmus MC, Afd. Cardiologie, Rotterdam, the Netherlands.

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July 2013

A novel 16p locus associated with BSCL2 hereditary motor neuronopathy: a genetic modifier?

Neurogenetics 2009 Oct 24;10(4):289-97. Epub 2009 Apr 24.

Department of Neurology, Erasmus MC University Medical Center, P.O. Box 2040, 3000 CA, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1007/s10048-009-0193-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2758216PMC
October 2009

A genomewide screen for late-onset Alzheimer disease in a genetically isolated Dutch population.

Am J Hum Genet 2007 Jul 29;81(1):17-31. Epub 2007 May 29.

Genetic Epidemiology Unit, Department of Epidemiology and Biostatistics and Clinical Genetics, Erasmus Medical Center Rotterdam, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1086/518720DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1950931PMC
July 2007

Evidence for novel loci for late-onset Parkinson's disease in a genetic isolate from the Netherlands.

Hum Genet 2006 Mar 14;119(1-2):51-60. Epub 2005 Dec 14.

Genetic-Epidemiologic Unit, Department of Clinical Genetics and Department of Epidemiology & Biostatistics, Erasmus MC Rotterdam, PO Box 1738, 3000 DR, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1007/s00439-005-0108-7DOI Listing
March 2006

ACE gene is associated with Alzheimer's disease and atrophy of hippocampus and amygdala.

Neurobiol Aging 2005 Aug-Sep;26(8):1153-9. Epub 2004 Nov 24.

Department of Epidemiology and Biostatistics, Erasmus Medical Center, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.neurobiolaging.2004.09.011DOI Listing
August 2005

Linkage disequilibrium in young genetically isolated Dutch population.

Eur J Hum Genet 2004 Jul;12(7):527-34

Department of Epidemiology and Biostatistics, Erasmus Medical Center Rotterdam, The Netherlands.

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http://dx.doi.org/10.1038/sj.ejhg.5201188DOI Listing
July 2004

Chasing genes in Alzheimer's and Parkinson's disease.

Hum Genet 2004 Apr 4;114(5):413-38. Epub 2004 Mar 4.

Genetic Epidemiology Unit, Department of Clinical Genetics, Erasmus MC, P.O. Box 1738, 3000 DR, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1007/s00439-004-1097-7DOI Listing
April 2004

Suggestive linkage to chromosome 19 in a large Cuban family with late-onset Parkinson's disease.

Mov Disord 2003 Nov;18(11):1240-9

Department of Epidemiology and Biostatistics, Erasmus Medical Center, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1002/mds.10534DOI Listing
November 2003

A new locus for postaxial polydactyly type A/B on chromosome 7q21-q34.

Eur J Hum Genet 2003 May;11(5):409-15

Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1038/sj.ejhg.5200982DOI Listing
May 2003