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Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasia.
Mornet E, Taillandier A, Peyramaure S, Kaper F, Muller F, Brenner R, Bussière P, Freisinger P, Godard J, Le Merrer M, Oury JF, Plauchu H, Puddu R, Rival JM, Superti-Furga A, Touraine RL, Serre JL, Simon-Bouy B. Mornet E, et al. Among authors: freisinger p. Eur J Hum Genet. 1998 Jul-Aug;6(4):308-14. doi: 10.1038/sj.ejhg.5200190. Eur J Hum Genet. 1998. PMID: 9781036
Fifteen new mutations (-195C>T, L-12X, 298-2A>G, T117N, A159T, R229S, 997+2T>A, E274X, A331T, H364R, D389G, 1256delC, R433H, N461I, C472S) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with hypophosphatasia.
Taillandier A, Cozien E, Muller F, Merrien Y, Bonnin E, Fribourg C, Simon-Bouy B, Serre JL, Bieth E, Brenner R, Cordier MP, De Bie S, Fellmann F, Freisinger P, Hesse V, Hennekam RC, Josifova D, Kerzin-Storrar L, Leporrier N, Zabot MT, Mornet E. Taillandier A, et al. Among authors: freisinger p. Hum Mutat. 2000 Mar;15(3):293. doi: 10.1002/(SICI)1098-1004(200003)15:3<293::AID-HUMU11>3.0.CO;2-Q. Hum Mutat. 2000. PMID: 10679946
A molecular approach to dominance in hypophosphatasia.
Lia-Baldini AS, Muller F, Taillandier A, Gibrat JF, Mouchard M, Robin B, Simon-Bouy B, Serre JL, Aylsworth AS, Bieth E, Delanote S, Freisinger P, Hu JC, Krohn HP, Nunes ME, Mornet E. Lia-Baldini AS, et al. Among authors: freisinger p. Hum Genet. 2001 Jul;109(1):99-108. doi: 10.1007/s004390100546. Hum Genet. 2001. PMID: 11479741
Dominant carpotarsal osteochondromatosis.
Maroteaux P, Le Merrer M, Bensahel H, Freisinger P. Maroteaux P, et al. Among authors: freisinger p. J Med Genet. 1993 Aug;30(8):704-6. doi: 10.1136/jmg.30.8.704. J Med Genet. 1993. PMID: 8411062 Free PMC article.
Pachydysostosis of the fibula.
Maroteaux P, Freisinger P, Le Merrer M. Maroteaux P, et al. Among authors: freisinger p. J Bone Joint Surg Br. 1991 Sep;73(5):842-5. doi: 10.1302/0301-620X.73B5.1894679. J Bone Joint Surg Br. 1991. PMID: 1894679
Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis.
Ruiz-Perez VL, Ide SE, Strom TM, Lorenz B, Wilson D, Woods K, King L, Francomano C, Freisinger P, Spranger S, Marino B, Dallapiccola B, Wright M, Meitinger T, Polymeropoulos MH, Goodship J. Ruiz-Perez VL, et al. Among authors: freisinger p. Nat Genet. 2000 Mar;24(3):283-6. doi: 10.1038/73508. Nat Genet. 2000. PMID: 10700184
Cytochrome c oxidase deficiency due to mutations in SCO2, encoding a mitochondrial copper-binding protein, is rescued by copper in human myoblasts.
Jaksch M, Paret C, Stucka R, Horn N, Müller-Höcker J, Horvath R, Trepesch N, Stecker G, Freisinger P, Thirion C, Müller J, Lunkwitz R, Rödel G, Shoubridge EA, Lochmüller H. Jaksch M, et al. Among authors: freisinger p. Hum Mol Genet. 2001 Dec 15;10(26):3025-35. doi: 10.1093/hmg/10.26.3025. Hum Mol Genet. 2001. PMID: 11751685
An atypical form of mucolipidosis III.
Freisinger P, Padovani JC, Maroteaux P. Freisinger P, et al. J Med Genet. 1992 Nov;29(11):834-6. doi: 10.1136/jmg.29.11.834. J Med Genet. 1992. PMID: 1453439 Free PMC article.
Dysspondylochondromatosis.
Freisinger P, Finidori G, Maroteaux P. Freisinger P, et al. Am J Med Genet. 1993 Feb 15;45(4):460-4. doi: 10.1002/ajmg.1320450413. Am J Med Genet. 1993. PMID: 8465851
131 results