Alice Costantini

Publication Activity (10 Years)

Years Active: 2018-2022
Publications (10 Years): 12

Top Topics

Dna Methylation

Bone Regeneration

Top Venues

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research

Journal of medical genetics

American journal of medical genetics. Part A

This page only lists publications with an associated author ORCID identifier.

Publications

Alice Costantini, Riikka E Makitie, Markus A Hartmann, Nadja Fratzl-Zelman, M Carola Zillikens, Uwe Kornak, Kent Søe, Outimaija Mäkitie
Early-Onset Osteoporosis: Rare Monogenic Forms Elucidate the Complexity of Disease Pathogenesis Beyond Type I Collagen. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 37 (9) (2022)
Mari Muurinen, Fulya Taylan, Symeon Tournis, Jesper Eisfeldt, Alexia Balanika, Heleni Vastardis, Sirpa Ala-Mello, Outimaija Mäkitie, Alice Costantini
Mosaic Deletions of Known Genes Explain Skeletal Dysplasias With High and Low Bone Mass. JBMR plus 6 (8) (2022)
Riikka E Makitie, Petra Henning, Yaming Jiu, Anders Kämpe, Konstantin Kogan, Alice Costantini, Ville-Valtteri Välimäki, Carolina Medina-Gomez, Minna Pekkinen, Isidro B Salusky, Camilla Schalin-Jäntti, Maria K Haanpää, Fernando Rivadeneira, John H Duncan Bassett, Graham R Williams, Ulf H Lerner, Renata C Pereira, Pekka Lappalainen, Outimaija Mäkitie
An ARHGAP25 variant links aberrant Rac1 function to early-onset skeletal fragility. JBMR plus 5 (7) (2021)
Riikka E Makitie, Matthias Hackl, Moritz Weigl, Amelie Frischer, Anders Kämpe, Alice Costantini, Johannes Grillari, Outimaija Mäkitie
Unique, Gender-Dependent Serum microRNA Profile in PLS3 Gene-Related Osteoporosis. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 35 (10) (2020)
Sini Skarp, Ji-Han Xia, Qin Zhang, Marika Löija, Alice Costantini, Lloyd W Ruddock, Outimaija Mäkitie, Gong-Hong Wei, Minna Männikkö
Exome Sequencing Reveals a Phenotype Modifying Variant in ZNF528 in Primary Osteoporosis With a COL1A2 Deletion. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 35 (12) (2020)
Alice Costantini, Jessica J Alm, Francesca Tonelli, Helena Valta, Céline Huber, Anh N Tran, Valentina Daponte, Nadi Kirova, Yong-Uk Kwon, Jung Yun Bae, Woo Yeong Chung, Shengjiang Tan, Yves Sznajer, Gen Nishimura, Tuomas Näreoja, Alan J Warren, Valerie Cormier-Daire, Ok-Hwa Kim, Antonella Forlino, Tae-Joon Cho, Outimaija Mäkitie
Novel RPL13 Variants and Variable Clinical Expressivity in a Human Ribosomopathy With Spondyloepimetaphyseal Dysplasia. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 36 (2) (2020)
Riikka E Makitie, Anders Kämpe, Alice Costantini, Jessica J Alm, Per Magnusson, Outimaija Mäkitie
Biomarkers in WNT1 and PLS3 Osteoporosis: Altered Concentrations of DKK1 and FGF23. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 35 (5) (2020)
Noor Ul Ain, Marta Baroncelli, Alice Costantini, Tayyaba Ishaq, Fulya Taylan, Ola Nilsson, Outi Mäkitie, Sadaf Naz
Novel form of rhizomelic skeletal dysplasia associated with a homozygous variant in GNPNAT1. Journal of medical genetics 58 (5) (2020)
Svetlana Vakkilainen, Alice Costantini, Mervi Taskinen, Ulla Wartiovaara-Kautto, Outi Mäkitie
'Metaphyseal dysplasia without hypotrichosis' can present with late-onset extraskeletal manifestations. Journal of medical genetics 57 (1) (2019)
Petra Loid, Riikka Mäkitie, Alice Costantini, Heli Viljakainen, Minna Pekkinen, Outimaija Mäkitie
A novel MYT1L mutation in a patient with severe early-onset obesity and intellectual disability. American journal of medical genetics. Part A 176 (9) (2018)
Alice Costantini, Panagiotis Ν Krallis, Anders Kämpe, Emmanouil M Karavitakis, Fulya Taylan, Outi Mäkitie, Artemis Doulgeraki
A novel frameshift deletion in PLS3 causing severe primary osteoporosis. Journal of human genetics 63 (8) (2018)
Alice Costantini, Symeon Tournis, Anders Kämpe, Noor Ul Ain, Fulya Taylan, Artemis Doulgeraki, Outi Mäkitie
Autosomal Recessive Osteogenesis Imperfecta Caused by a Novel Homozygous COL1A2 Mutation. Calcified tissue international 103 (3) (2018)