Alessandra Maugeri

Alessandra Maugeri

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Alessandra Maugeri

Alessandra Maugeri

Publications by authors named "Alessandra Maugeri"

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25Publications

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The first family with adult osteogenesis imperfecta caused by a novel homozygous mutation in CREB3L1.

Mol Genet Genomic Med 2019 08 17;7(8):e823. Epub 2019 Jun 17.

Department of Clinical Genetics, Amsterdam Movement Sciences, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/mgg3.823DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6687637PMC
August 2019

Autosomal dominant Marfan syndrome caused by a previously reported recessive FBN1 variant.

Mol Genet Genomic Med 2019 02 28;7(2):e00518. Epub 2018 Nov 28.

Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/mgg3.518DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6393656PMC
February 2019

Ehlers Danlos syndrome, kyphoscoliotic type due to Lysyl Hydroxylase 1 deficiency in two children without congenital or early onset kyphoscoliosis.

Eur J Med Genet 2017 Oct 27;60(10):536-540. Epub 2017 Jul 27.

Department of Pediatrics, Emma Children's Hospital, Academic Medical Center, Amsterdam, The Netherlands; Department of Medical Genetics, St George's University of London, London, UK.

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http://dx.doi.org/10.1016/j.ejmg.2017.07.011DOI Listing
October 2017

SMAD2 Mutations Are Associated with Arterial Aneurysms and Dissections.

Hum Mutat 2015 Dec 10;36(12):1145-9. Epub 2015 Sep 10.

Department of Clinical Genetics, Center for Connective Tissue Research, VU University Medical Center, Amsterdam, 1007, MB, The Netherlands.

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http://dx.doi.org/10.1002/humu.22854DOI Listing
December 2015

Beneficial Outcome of Losartan Therapy Depends on Type of FBN1 Mutation in Marfan Syndrome.

Circ Cardiovasc Genet 2015 Apr 22;8(2):383-8. Epub 2015 Jan 22.

From the Departments of Cardiology (R.F., A.W.d.H., M.G., B.J.M.M.), Radiology (M.G.), Clinical Epidemiology and Biostatistics (A.H.Z.), and Medical Biochemistry (V.d.W.), Academic Medical Center Amsterdam, Amsterdam; Interuniversity Cardiology Institute of the Netherlands, Utrecht (R.F., A.W.d.H., M.G., B.J.M.M.); Departments of Pathology (T.R.) and Clinical Genetics (D.M., A.M., F.S.v.D., H.E.M.-H., G.P.), VU University Medical Center, Amsterdam; Department of Cardiology, Radboud University Nijmegen Medical Center, Nijmegen (J.T.); Department of Cardiology, Leiden University Medical Center, Leiden (A.J.S.); and Department of Cardiology, University Medical Center Groningen, Groningen, the Netherlands (M.P.v.d.B.).

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http://dx.doi.org/10.1161/CIRCGENETICS.114.000950DOI Listing
April 2015

Clinical utility gene card for: osteogenesis imperfecta.

Eur J Hum Genet 2013 Jun 26;21(6). Epub 2012 Sep 26.

Department of Clinical Genetics, Center for Connective Tissue Disorders, VU University Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1038/ejhg.2012.210DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3658202PMC
June 2013

Identification of a novel FBN1 gene mutation in a large Pakistani family with Marfan syndrome.

Mol Vis 2012 18;18:1918-26. Epub 2012 Jul 18.

Department of Biosciences, COMSATS Institute of Information Technology, Islamabad, Pakistan.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3413445PMC
December 2012

[Osteogenesis imperfecta: clinical and genetic heterogeneity].

Ned Tijdschr Geneeskd 2012 ;156(21):A4585

VU medisch centrum, afd. Klinische Genetica, Amsterdam.

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July 2012

EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta.

Eur J Hum Genet 2012 Jan 10;20(1):11-9. Epub 2011 Aug 10.

Department of Clinical Genetics, VU University Medical Centre, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1038/ejhg.2011.141DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3234509PMC
January 2012

The spectrum of retinal phenotypes caused by mutations in the ABCA4 gene.

Graefes Arch Clin Exp Ophthalmol 2005 Feb 22;243(2):90-100. Epub 2004 Dec 22.

Department of Ophthalmology, University Medical Centre Nijmegen, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1007/s00417-004-1079-4DOI Listing
February 2005

A novel mutation in the ELOVL4 gene causes autosomal dominant Stargardt-like macular dystrophy.

Invest Ophthalmol Vis Sci 2004 Dec;45(12):4263-7

Department of Human Genetics, Radboud University Nijmegen Medical Centre, Geert Grooteplein 10, PO Box 9101, 6500 HB Nijmegen, The Netherlands.

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http://dx.doi.org/10.1167/iovs.04-0078DOI Listing
December 2004

Three families displaying the combination of Stargardt's disease with cone-rod dystrophy or retinitis pigmentosa.

Ophthalmology 2004 Mar;111(3):546-53

Department of Ophthalmology, University Medical Centre Nijmegen, PO Box 9101, 6500 HB Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.ophtha.2003.06.010DOI Listing
March 2004

Autosomal dominant rhegmatogenous retinal detachment associated with an Arg453Ter mutation in the COL2A1 gene.

Invest Ophthalmol Vis Sci 2003 Sep;44(9):4035-43

Department of Ophthalmology, University Medical Centre Nijmegen, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1167/iovs.02-0736DOI Listing
September 2003

Phenotypic spectrum of autosomal recessive cone-rod dystrophies caused by mutations in the ABCA4 (ABCR) gene.

Invest Ophthalmol Vis Sci 2002 Jun;43(6):1980-5

Department of Ophthalmology, University Medical Centre Nijmegen, Nijmegen, The Netherlands.

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June 2002