Aida M Bertoli-Avella

Summary

Affiliation: Erasmus MC
Country: The Netherlands

Publications

  1. ncbi request reprint A new syndrome with noncompaction cardiomyopathy, bradycardia, pulmonary stenosis, atrial septal defect and heterotaxy with suggestive linkage to chromosome 6p
    Marja W Wessels
    Departments of Clinical Genetics, Erasmus Medical Centre, Westzeedijk 112, 3016 AH, Rotterdam, The Netherlands
    Hum Genet 122:595-603. 2008
  2. pmc Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissections
    Aida M Bertoli-Avella
    Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, the Netherlands Center of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium Department of Cardiology, Erasmus University Medical Center, Rotterdam, The Netherlands Electronic address
    J Am Coll Cardiol 65:1324-36. 2015
  3. pmc Identification of RNA binding motif proteins essential for cardiovascular development
    Samantha Maragh
    Biochemical Science Division, National Institute of Standards and Technology, Gaithersburg, MD 20899, USA
    BMC Dev Biol 11:62. 2011
  4. ncbi request reprint Suggestive linkage to chromosome 19 in a large Cuban family with late-onset Parkinson's disease
    Aida M Bertoli-Avella
    Department of Epidemiology and Biostatistics, Erasmus Medical Center, Rotterdam, The Netherlands
    Mov Disord 18:1240-9. 2003
  5. ncbi request reprint Chasing genes in Alzheimer's and Parkinson's disease
    Aida M Bertoli-Avella
    Genetic Epidemiology Unit, Department of Clinical Genetics, Erasmus MC, P O Box 1738, 3000 DR, Rotterdam, The Netherlands
    Hum Genet 114:413-38. 2004
  6. ncbi request reprint Evidence for novel loci for late-onset Parkinson's disease in a genetic isolate from the Netherlands
    Aida M Bertoli-Avella
    Genetic Epidemiologic Unit, Department of Clinical Genetics and Department of Epidemiology and Biostatistics, Erasmus MC Rotterdam, PO Box 1738, 3000 DR, Rotterdam, The Netherlands
    Hum Genet 119:51-60. 2006
  7. pmc ROBO2 gene variants are associated with familial vesicoureteral reflux
    Aida M Bertoli-Avella
    Department of Clinical Genetics, Erasmus MC Rotterdam, P O Box 2040, 3000 CA, Rotterdam, Netherlands
    J Am Soc Nephrol 19:825-31. 2008
  8. doi request reprint Aggressive cardiovascular phenotype of aneurysms-osteoarthritis syndrome caused by pathogenic SMAD3 variants
    Denise van der Linde
    Department of Cardiology, Erasmus Medical Center, Rotterdam, The Netherlands
    J Am Coll Cardiol 60:397-403. 2012
  9. pmc A genome search for primary vesicoureteral reflux shows further evidence for genetic heterogeneity
    Maria Luisa Conte
    Department of Clinical Genetics, Erasmus MC Rotterdam, Rotterdam, The Netherlands
    Pediatr Nephrol 23:587-95. 2008
  10. ncbi request reprint [Patients with aneurysms and osteoarthritis: Marfan syndrome ruled out, so what is it?]
    Denise van der Linde
    Erasmus MC, afd Cardiologie, Rotterdam, The Netherlands
    Ned Tijdschr Geneeskd 157:A5588. 2013

Detail Information

Publications30

  1. ncbi request reprint A new syndrome with noncompaction cardiomyopathy, bradycardia, pulmonary stenosis, atrial septal defect and heterotaxy with suggestive linkage to chromosome 6p
    Marja W Wessels
    Departments of Clinical Genetics, Erasmus Medical Centre, Westzeedijk 112, 3016 AH, Rotterdam, The Netherlands
    Hum Genet 122:595-603. 2008
    ..Taken together, the genomic region could be reduced to 9.4 cM (12 Mb) containing several functional candidate genes for this complex heterotaxy phenotype...
  2. pmc Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissections
    Aida M Bertoli-Avella
    Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, the Netherlands Center of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium Department of Cardiology, Erasmus University Medical Center, Rotterdam, The Netherlands Electronic address
    J Am Coll Cardiol 65:1324-36. 2015
    ....
  3. pmc Identification of RNA binding motif proteins essential for cardiovascular development
    Samantha Maragh
    Biochemical Science Division, National Institute of Standards and Technology, Gaithersburg, MD 20899, USA
    BMC Dev Biol 11:62. 2011
    ....
  4. ncbi request reprint Suggestive linkage to chromosome 19 in a large Cuban family with late-onset Parkinson's disease
    Aida M Bertoli-Avella
    Department of Epidemiology and Biostatistics, Erasmus Medical Center, Rotterdam, The Netherlands
    Mov Disord 18:1240-9. 2003
    ....
  5. ncbi request reprint Chasing genes in Alzheimer's and Parkinson's disease
    Aida M Bertoli-Avella
    Genetic Epidemiology Unit, Department of Clinical Genetics, Erasmus MC, P O Box 1738, 3000 DR, Rotterdam, The Netherlands
    Hum Genet 114:413-38. 2004
    ..Their imbricate features point to a spectrum of neurodegeneration (tauopathies, synucleinopathies, amyloidopathies) that need further intense investigation to find the missing links...
  6. ncbi request reprint Evidence for novel loci for late-onset Parkinson's disease in a genetic isolate from the Netherlands
    Aida M Bertoli-Avella
    Genetic Epidemiologic Unit, Department of Clinical Genetics and Department of Epidemiology and Biostatistics, Erasmus MC Rotterdam, PO Box 1738, 3000 DR, Rotterdam, The Netherlands
    Hum Genet 119:51-60. 2006
    ..7-6.1, P < 0.001). Moreover, a common haplotype with excess of sharing among late-onset PD cases was observed on both regions. Our results suggest the existence of two loci influencing PD susceptibility on chromosome 9q and 14q...
  7. pmc ROBO2 gene variants are associated with familial vesicoureteral reflux
    Aida M Bertoli-Avella
    Department of Clinical Genetics, Erasmus MC Rotterdam, P O Box 2040, 3000 CA, Rotterdam, Netherlands
    J Am Soc Nephrol 19:825-31. 2008
    ..In conclusion, a relatively high frequency of ROBO2 variants (5.1%) was found in familial cases; however, functional studies and validation in other cohorts are warranted...
  8. doi request reprint Aggressive cardiovascular phenotype of aneurysms-osteoarthritis syndrome caused by pathogenic SMAD3 variants
    Denise van der Linde
    Department of Cardiology, Erasmus Medical Center, Rotterdam, The Netherlands
    J Am Coll Cardiol 60:397-403. 2012
    ..The purpose of this study was describe the cardiovascular phenotype of the aneurysms-osteoarthritis syndrome (AOS) and to provide clinical recommendations...
  9. pmc A genome search for primary vesicoureteral reflux shows further evidence for genetic heterogeneity
    Maria Luisa Conte
    Department of Clinical Genetics, Erasmus MC Rotterdam, Rotterdam, The Netherlands
    Pediatr Nephrol 23:587-95. 2008
    ..Our results suggest the presence of several novel loci for primary VUR, giving further evidence for the genetic heterogeneity of this disorder...
  10. ncbi request reprint [Patients with aneurysms and osteoarthritis: Marfan syndrome ruled out, so what is it?]
    Denise van der Linde
    Erasmus MC, afd Cardiologie, Rotterdam, The Netherlands
    Ned Tijdschr Geneeskd 157:A5588. 2013
    ..These case descriptions emphasize the importance of timely recognition of aneurysms-osteoarthritis syndrome, as this syndrome causes more aggressive and widespread cardiovascular disease than Marfan syndrome...
  11. doi request reprint Progression rate and early surgical experience in the new aggressive aneurysms-osteoarthritis syndrome
    Denise van der Linde
    Department of Cardiology, Erasmus Medical Center, Rotterdam, The Netherlands
    Ann Thorac Surg 95:563-9. 2013
    ..The objective of the present study was to evaluate progression rate of aortic dilation and surgical outcome in AOS patients...
  12. ncbi request reprint Polymorphisms in the prion protein gene and in the doppel gene increase susceptibility for Creutzfeldt-Jakob disease
    Esther A Croes
    Department of Epidemiology and Biostatistics, Erasmus MC, Rotterdam, The Netherlands
    Eur J Hum Genet 12:389-94. 2004
    ....
  13. ncbi request reprint Linkage disequilibrium in young genetically isolated Dutch population
    Yurii S Aulchenko
    Department of Epidemiology and Biostatistics, Erasmus Medical Center Rotterdam, The Netherlands
    Eur J Hum Genet 12:527-34. 2004
    ..In these populations, a similar degree of LD is expected and thus they may be effectively used for linkage or LD mapping...
  14. pmc A genomewide screen for late-onset Alzheimer disease in a genetically isolated Dutch population
    Fan Liu
    Genetic Epidemiology Unit, Department of Epidemiology and Biostatistics and Clinical Genetics, Erasmus Medical Center Rotterdam, Rotterdam, The Netherlands
    Am J Hum Genet 81:17-31. 2007
    ..For this region, our analysis identified the NMNAT3 and CLSTN2 genes. Our findings confirm linkage to chromosome 11q25. We were unable to confirm SORL1; instead, our analysis points to the OPCML and HNT genes...
  15. doi request reprint Phenotypic spectrum of the SMAD3-related aneurysms-osteoarthritis syndrome
    Ingrid M B H van de Laar
    Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands
    J Med Genet 49:47-57. 2012
    ..AOS is caused by mutations in the SMAD3 gene...
  16. pmc NPHP4 variants are associated with pleiotropic heart malformations
    Vanessa M French
    Department of Clinical Genetics, Erasmus MC Rotterdam, PO Box 2040, 3000 CA, Rotterdam, The Netherlands
    Circ Res 110:1564-74. 2012
    ..Failure to establish normal left-right (L-R) asymmetry often results in cardiovascular malformations and other laterality defects of visceral organs...
  17. pmc Genome-wide linkage analysis in a Dutch multigenerational family with attention deficit hyperactivity disorder
    Rinus Vegt
    Department of Psychiatry, Erasmus Medical Centre, Rotterdam, The Netherlands
    Eur J Hum Genet 18:206-11. 2010
    ..Hopefully, the genome-wide association studies in ADHD will help to highlight specific polymorphisms and genes within the broad areas detected by our, as well as other, linkage studies...
  18. pmc Microcephaly with simplified gyration, epilepsy, and infantile diabetes linked to inappropriate apoptosis of neural progenitors
    Cathryn J Poulton
    Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands
    Am J Hum Genet 89:265-76. 2011
    ..This directly implicates IER3IP1 in the regulation of cell survival. Identification of IER3IP1 mutations sheds light on the mechanisms of brain development and on the pathogenesis of infantile epilepsy and early-onset permanent diabetes...
  19. ncbi request reprint ACE gene is associated with Alzheimer's disease and atrophy of hippocampus and amygdala
    Kristel Sleegers
    Department of Epidemiology and Biostatistics, Erasmus Medical Center, Rotterdam, The Netherlands
    Neurobiol Aging 26:1153-9. 2005
    ..Vascular pathology was not significantly associated with ACE. This suggests a modest but significant increase in risk of AD and early AD pathology in women homozygous for the ACE I-allele independent of vascular factors...
  20. ncbi request reprint Novel parkin mutations detected in patients with early-onset Parkinson's disease
    Aida M Bertoli-Avella
    Genetic Epidemiologic Unit, Department of Clinical Genetics and Department of Epidemiology and Biostatistics, Erasmus MC Rotterdam, The Netherlands
    Mov Disord 20:424-31. 2005
    ..This study confirms the frequent involvement of parkin and the importance of genetic testing in the diagnostic work-up of EOP...
  21. doi request reprint Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis
    Ingrid M B H van de Laar
    Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands
    Nat Genet 43:121-6. 2011
    ..Our findings endorse the TGF-β pathway as the primary pharmacological target for the development of new treatments for aortic aneurysms and osteoarthritis...
  22. pmc A novel 16p locus associated with BSCL2 hereditary motor neuronopathy: a genetic modifier?
    Esther Brusse
    Department of Neurology, Erasmus MC University Medical Center, P O Box 2040, 3000 CA, Rotterdam, The Netherlands
    Neurogenetics 10:289-97. 2009
    ..These results expand the clinical spectrum of HMN and suggest a digenic inheritance of HMN in this family with a BSCL2 mutation and a chromosome 16 locus likely contributing to the phenotype...
  23. pmc Congenital dyserythropoietic anemia type II: molecular analysis and expression of the SEC23B gene
    Francesca Punzo
    Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands
    Orphanet J Rare Dis 6:89. 2011
    ..The aim of this study was to characterize molecular genomic SEC23B defects in 16 unrelated patients affected by CDAII and correlate the identified genetic alterations with SEC23B transcript and protein levels in erythroid precursors...
  24. doi request reprint First locus for primary pulmonary vein stenosis maps to chromosome 2q
    Ingrid Van de Laar
    Department of Clinical Genetics, Erasmus Medical Center, 3000 CA Rotterdam, The Netherlands
    Eur Heart J 30:2485-92. 2009
    ..We describe a consanguineous Turkish family with four affected siblings with primary PVS in association with prenatal lymphatic abnormalities. We aimed to map the first gene for primary PVS...
  25. doi request reprint Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutations
    Marlies J Valstar
    Department of Clinical Genetics, Erasmus University Medical Center, Dr Molewaterplein 50, Rotterdam, The Netherlands
    Hum Mutat 31:E1348-60. 2010
    ..They include the first missense mutations and a relatively high proportion of large rearrangements, which warrants the inclusion of quantitative techniques in routine mutation screening of the GNS gene...
  26. ncbi request reprint A new locus for postaxial polydactyly type A/B on chromosome 7q21-q34
    Robert Jan H Galjaard
    Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands
    Eur J Hum Genet 11:409-15. 2003
    ..We performed a whole-genome search and found linkage between PAP and markers on chromosome 7q. The highest LOD score was 3.34 obtained at D7S1799 and D7S500 with multipoint analysis...
  27. pmc Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems
    Alice S Brooks
    Department of Clinical Genetics, Sophia Children s Hospital, Erasmus MC, Rotterdam, The Netherlands
    Am J Hum Genet 77:120-6. 2005
    ....
  28. doi request reprint Broadening the phenotypic spectrum of pathogenic LARP7 variants: two cases with intellectual disability, variable growth retardation and distinct facial features
    Iris H I M Hollink
    Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands
    J Hum Genet 61:229-33. 2016
    ..This study is an independent confirmation of the syndrome due to LARP7 depletion. Our cases broaden the associated clinical features of the syndrome and contribute to the delineation of the phenotypic spectrum of LARP7 mutations. ..
  29. doi request reprint Autosomal dominant inheritance of cardiac valves anomalies in two families: extended spectrum of left-ventricular outflow tract obstruction
    Marja W Wessels
    Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands
    Am J Med Genet A 149:216-25. 2009
    ..These families might be instrumental in identifying genes involved in cardiac valve morphogenesis and malformation...
  30. pmc Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy
    Annemieke J M H Verkerk
    Department of Bioinformatics, Erasmus Medical Center, 3015 GE Rotterdam, The Netherlands
    Am J Hum Genet 85:40-52. 2009
    ....