Costantini A - Search Results

1

Novel RPL13 Variants and Variable Clinical Expressivity in a Human Ribosomopathy With Spondyloepimetaphyseal Dysplasia.

Costantini A, Alm JJ, Tonelli F, Valta H, Huber C, Tran AN, Daponte V, Kirova N, Kwon YU, Bae JY, Chung WY, Tan S, Sznajer Y, Nishimura G, Näreoja T, Warren AJ, Cormier-Daire V, Kim OH, Forlino A, Cho TJ, Mäkitie O. Costantini A, et al. J Bone Miner Res. 2021 Feb;36(2):283-297. doi: 10.1002/jbmr.4177. Epub 2020 Oct 13. J Bone Miner Res. 2021. PMID: 32916022 Free PMC article.

2

Value of rare low bone mass diseases for osteoporosis genetics.

Costantini A, Mäkitie O. Costantini A, et al. Bonekey Rep. 2016 Jan 6;5:773. doi: 10.1038/bonekey.2015.143. eCollection 2016. Bonekey Rep. 2016. PMID: 26793304 Free PMC article. Review.

3

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

Taylan F, Costantini A, Coles N, Pekkinen M, Héon E, Şıklar Z, Berberoğlu M, Kämpe A, Kıykım E, Grigelioniene G, Tüysüz B, Mäkitie O. Taylan F, et al. Among authors: costantini a. J Bone Miner Res. 2016 Aug;31(8):1577-85. doi: 10.1002/jbmr.2834. Epub 2016 Apr 4. J Bone Miner Res. 2016. PMID: 26987875 Free article.

4

CRTAP variants in early-onset osteoporosis and recurrent fractures.

Costantini A, Vuorimies I, Mäkitie R, Mäyränpää MK, Becker J, Pekkinen M, Valta H, Netzer C, Kämpe A, Taylan F, Jiao H, Mäkitie O. Costantini A, et al. Am J Med Genet A. 2017 Mar;173(3):806-808. doi: 10.1002/ajmg.a.38065. Epub 2016 Nov 30. Am J Med Genet A. 2017. PMID: 27901313 No abstract available.

5

PLS3 sequencing in childhood-onset primary osteoporosis identifies two novel disease-causing variants.

Kämpe AJ, Costantini A, Mäkitie RE, Jäntti N, Valta H, Mäyränpää M, Kröger H, Pekkinen M, Taylan F, Jiao H, Mäkitie O. Kämpe AJ, et al. Among authors: costantini a. Osteoporos Int. 2017 Oct;28(10):3023-3032. doi: 10.1007/s00198-017-4150-9. Epub 2017 Jul 26. Osteoporos Int. 2017. PMID: 28748388 Free PMC article.

6

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

Kämpe AJ, Costantini A, Levy-Shraga Y, Zeitlin L, Roschger P, Taylan F, Lindstrand A, Paschalis EP, Gamsjaeger S, Raas-Rothschild A, Hövel M, Jiao H, Klaushofer K, Grasemann C, Mäkitie O. Kämpe AJ, et al. Among authors: costantini a. J Bone Miner Res. 2017 Dec;32(12):2394-2404. doi: 10.1002/jbmr.3233. Epub 2017 Sep 6. J Bone Miner Res. 2017. PMID: 28777485 Free article.

7

High bone mass due to novel LRP5 and AMER1 mutations.

Costantini A, Kekäläinen P, Mäkitie RE, Mäkitie O. Costantini A, et al. Eur J Med Genet. 2017 Dec;60(12):675-679. doi: 10.1016/j.ejmg.2017.09.001. Epub 2017 Sep 8. Eur J Med Genet. 2017. PMID: 28893644

8

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

Costantini A, Tournis S, Kämpe A, Ul Ain N, Taylan F, Doulgeraki A, Mäkitie O. Costantini A, et al. Calcif Tissue Int. 2018 Sep;103(3):353-358. doi: 10.1007/s00223-018-0414-4. Epub 2018 Mar 23. Calcif Tissue Int. 2018. PMID: 29572562

9

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

Costantini A, Wallgren-Pettersson C, Mäkitie O. Costantini A, et al. Eur J Med Genet. 2018 Oct;61(10):612-615. doi: 10.1016/j.ejmg.2018.04.004. Epub 2018 Apr 14. Eur J Med Genet. 2018. PMID: 29660408

10

A novel frameshift deletion in PLS3 causing severe primary osteoporosis.

Costantini A, Krallis PΝ, Kämpe A, Karavitakis EM, Taylan F, Mäkitie O, Doulgeraki A. Costantini A, et al. J Hum Genet. 2018 Aug;63(8):923-926. doi: 10.1038/s10038-018-0472-5. Epub 2018 Jun 8. J Hum Genet. 2018. PMID: 29884797

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