Alice Costantini

Alice Costantini

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Alice Costantini

Alice Costantini

Publications by authors named "Alice Costantini"

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14Publications

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'Metaphyseal dysplasia without hypotrichosis' can present with late-onset extraskeletal manifestations.

J Med Genet 2020 01 14;57(1):18-22. Epub 2019 Aug 14.

New Children's Hospital, Pediatric Research Center and Institute of Genetics, University of Helsinki and HUS Helsinki University Hospital and Folkhälsan Research Center, Helsinki, Finland.

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http://dx.doi.org/10.1136/jmedgenet-2019-106131DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6929920PMC
January 2020

Biomarkers in WNT1 and PLS3 Osteoporosis: Altered Concentrations of DKK1 and FGF23.

J Bone Miner Res 2020 Jan 22. Epub 2020 Jan 22.

Faculty of Medicine, Folkhälsan Institute of Genetics and Research Program for Clinical and Molecular Metabolism, University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1002/jbmr.3959DOI Listing
January 2020

New Insights Into Monogenic Causes of Osteoporosis.

Front Endocrinol (Lausanne) 2019 25;10:70. Epub 2019 Feb 25.

Folkhälsan Institute of Genetics and University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.3389/fendo.2019.00070DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6397842PMC
February 2019

Expansion of the clinical spectrum of frontometaphyseal dysplasia 2 caused by the recurrent mutation p.Pro485Leu in MAP3K7.

Eur J Med Genet 2018 Oct 14;61(10):612-615. Epub 2018 Apr 14.

Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden; The Folkhälsan Institute of Genetics, Biomedicum, Helsinki, Finland; Children's Hospital, University of Helsinki, Helsinki University Hospital, Helsinki, Finland; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.

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https://linkinghub.elsevier.com/retrieve/pii/S17697212183003
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http://dx.doi.org/10.1016/j.ejmg.2018.04.004DOI Listing
October 2018

Autosomal Recessive Osteogenesis Imperfecta Caused by a Novel Homozygous COL1A2 Mutation.

Calcif Tissue Int 2018 09 23;103(3):353-358. Epub 2018 Mar 23.

Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.

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http://dx.doi.org/10.1007/s00223-018-0414-4DOI Listing
September 2018

A novel MYT1L mutation in a patient with severe early-onset obesity and intellectual disability.

Am J Med Genet A 2018 09 28;176(9):1972-1975. Epub 2018 Jul 28.

Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.

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http://dx.doi.org/10.1002/ajmg.a.40370DOI Listing
September 2018

A novel frameshift deletion in PLS3 causing severe primary osteoporosis.

J Hum Genet 2018 Aug 8;63(8):923-926. Epub 2018 Jun 8.

Department of Bone and Mineral Metabolism, Institute of Child Health, "Aghia Sophia" Children's Hospital, Athens, Greece.

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http://dx.doi.org/10.1038/s10038-018-0472-5DOI Listing
August 2018

Rare Copy Number Variants in Array-Based Comparative Genomic Hybridization in Early-Onset Skeletal Fragility.

Front Endocrinol (Lausanne) 2018 10;9:380. Epub 2018 Jul 10.

Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.

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http://dx.doi.org/10.3389/fendo.2018.00380DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6048219PMC
July 2018

PLS3 Deletions Lead to Severe Spinal Osteoporosis and Disturbed Bone Matrix Mineralization.

J Bone Miner Res 2017 Dec 6;32(12):2394-2404. Epub 2017 Sep 6.

Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.

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http://dx.doi.org/10.1002/jbmr.3233DOI Listing
December 2017

High bone mass due to novel LRP5 and AMER1 mutations.

Eur J Med Genet 2017 Dec 8;60(12):675-679. Epub 2017 Sep 8.

Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden; Folkhälsan Institute of Genetics, University of Helsinki, Helsinki, Finland; Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.

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http://dx.doi.org/10.1016/j.ejmg.2017.09.001DOI Listing
December 2017

CRTAP variants in early-onset osteoporosis and recurrent fractures.

Am J Med Genet A 2017 03 30;173(3):806-808. Epub 2016 Nov 30.

Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.

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http://dx.doi.org/10.1002/ajmg.a.38065DOI Listing
March 2017

Spondyloocular Syndrome: Novel Mutations in XYLT2 Gene and Expansion of the Phenotypic Spectrum.

J Bone Miner Res 2016 08 4;31(8):1577-85. Epub 2016 Apr 4.

Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.

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http://dx.doi.org/10.1002/jbmr.2834DOI Listing
August 2016

Value of rare low bone mass diseases for osteoporosis genetics.

Bonekey Rep 2016 6;5:773. Epub 2016 Jan 6.

Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden; Folkhälsan Institute of Genetics, Helsinki, Finland; Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.

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http://dx.doi.org/10.1038/bonekey.2015.143DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4704609PMC
January 2016