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1.	Spentchian, M, et al. (author) Severe hypophosphatasia: Characterization of fifteen novel mutations in the ALPL gene 2003 In: Human Mutation. - : Hindawi Limited. - 1059-7794. ; 22:1, s. 105-106 Journal article (peer-reviewed)abstract Hypophosphatasia is an inherited disorder characterized by defective bone mineralization and deficiency of serum and tissue liver/bone/kidney alkaline phosphatase (L/B/K ALP) activity. We report the characterization of ALPL gene mutations in a series of 11 families from various origins affected by perinatal and infantile hypophosphatasia. Sixteen distinct mutations were found, fifteen of them not previously reported: M45V, G46R, 388-391delGTAA, 389delT, T131I, G145S, D172E, 662delG, G203A, R255L, 876-881delAGGGGA, 962delG, E294K, E435K, and A451T. This confirms that severe hypophosphatasia is due to a large spectrum of mutations in Caucasian populations.
2.	Radio, FC, et al. (author) SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females 2021 In: American journal of human genetics. - : Elsevier BV. - 1537-6605 .- 0002-9297. ; 108:3, s. 502-516 Journal article (peer-reviewed)
3.	Radio, FC, et al. (author) SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females 2022 In: EUROPEAN JOURNAL OF HUMAN GENETICS. - 1018-4813. ; 30:SUPPL 1, s. 25-26 Conference paper (other academic/artistic)
4.	Thery, C, et al. (author) Minimal information for studies of extracellular vesicles 2018 (MISEV2018): a position statement of the International Society for Extracellular Vesicles and update of the MISEV2014 guidelines 2018 In: Journal of extracellular vesicles. - : Wiley. - 2001-3078. ; 7:1, s. 1535750- Journal article (peer-reviewed)

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Type of publication: journal article (3); conference paper (1)

Type of content: peer-reviewed (3); other academic/artistic (1)

Author/Editor: Wang, TY (2); de Boer, E (2); Jackson, A (2); Graham, JM (2); Barakat, TS (2); Mcwalter, K (2); show more...; Amor, DJ (2); Anderlid, BM (2); Faivre, L. (2); Tartaglia, M (2); Banka, S (2); Weiss, K (2); Lindstrom, K. (2); Scott, DA (2); Ciolfi, A (2); Dallapiccola, B (2); Iascone, M (2); Chandler, KE (2); Vissers, LELM (2); Radio, FC (2); Sawyer, SL (2); Madan-Khetarpal, S (2); Tenconi, R (2); Steindl, K (2); Selicorni, A. (2); Faletra, F. (2); Sadikovic, B (2); Pang, KF (2); Levy, MA (2); Pedace, L (2); Stellacci, E (2); Lo Cicero, S (2); Dentici, ML (2); Sanchez-Lara, PA (2); MacKenzie, JJ (2); Monteleone, B (2); Zhou, DH (2); Monteiro, FP (2); Macke, EL (2); Stals, K (2); Cabet, S (2); Castle, AMR (2); Kalsner, L (2); Sheehan, W (2); Shinde, DN (2); Goodloe, D (2); Bluske, K (2); Musante, L (2); Kurtz-Nelson, EC (2); Priolo, M (2); show less...

University: Karolinska Institutet (3); Lund University (2); University of Gothenburg (1)

Language: English (4)

Research subject (UKÄ/SCB): Medical and Health Sciences (2); Natural sciences (1)

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