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343 related items for PubMed ID: 12416636
1. Severe hypophosphatasia due to mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene. Stoll C, Fischbach M, Terzic J, Alembik Y, Vuillemin MO, Mornet E. Genet Couns; 2002; 13(3):289-95. PubMed ID: 12416636 [Abstract] [Full Text] [Related]
2. Missense mutations of the tissue-nonspecific alkaline phosphatase gene in hypophosphatasia. Henthorn PS, Whyte MP. Clin Chem; 1992 Dec; 38(12):2501-5. PubMed ID: 1360878 [Abstract] [Full Text] [Related]
3. [Childhood hypophosphatasia: a case report due to a novel mutation]. Draguet C, Gillerot Y, Mornet E. Arch Pediatr; 2004 May; 11(5):440-3. PubMed ID: 15135428 [Abstract] [Full Text] [Related]
4. Denaturing gradient gel electrophoresis analysis of the tissue nonspecific alkaline phosphatase isoenzyme gene in hypophosphatasia. Mumm S, Jones J, Finnegan P, Henthorn PS, Podgornik MN, Whyte MP. Mol Genet Metab; 2002 Feb; 75(2):143-53. PubMed ID: 11855933 [Abstract] [Full Text] [Related]
5. Glycosylation-deficient mutations in tissue-nonspecific alkaline phosphatase impair its structure and function and are linked to infantile hypophosphatasia. Komaru K, Satou Y, Al-Shawafi HA, Numa-Kinjoh N, Sohda M, Oda K. FEBS J; 2016 Mar; 283(6):1168-79. PubMed ID: 26797772 [Abstract] [Full Text] [Related]
6. Hypophosphatasia: the mutations in the tissue-nonspecific alkaline phosphatase gene. Mornet E. Hum Mutat; 2000 Mar; 15(4):309-15. PubMed ID: 10737975 [Abstract] [Full Text] [Related]
7. Hypophosphatasia: phenotypic variability and possible Croatian origin of the c.1402g>A mutation of TNSALP gene. Petković Ramadza D, Stipoljev F, Sarnavka V, Begović D, Potocki K, Fumić K, Mornet E, Barić I. Coll Antropol; 2009 Dec; 33(4):1255-8. PubMed ID: 20102078 [Abstract] [Full Text] [Related]
8. Perinatal hypophosphatasia: radiology, pathology and molecular biology studies in a family harboring a splicing mutation (648+1A) and a novel missense mutation (N400S) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene. Sergi C, Mornet E, Troeger J, Voigtlaender T. Am J Med Genet; 2001 Oct 15; 103(3):235-40. PubMed ID: 11745997 [Abstract] [Full Text] [Related]
9. 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. Hum Mutat; 2000 Mar 15; 15(3):293. PubMed ID: 10679946 [Abstract] [Full Text] [Related]
11. Twelve novel mutations in the tissue-nonspecific alkaline phosphatase gene (ALPL) in patients with various forms of hypophosphatasia. Taillandier A, Lia-Baldini AS, Mouchard M, Robin B, Muller F, Simon-Bouy B, Serre JL, Bera-Louville A, Bonduelle M, Eckhardt J, Gaillard D, Myhre AG, Körtge-Jung S, Larget-Piet L, Malou E, Sillence D, Temple IK, Viot G, Mornet E. Hum Mutat; 2001 Apr 15; 18(1):83-4. PubMed ID: 11438998 [Abstract] [Full Text] [Related]
12. [Tissue-nonspecific alkaline phosphatase and hypophosphatasia]. Oda K, Kinjoh NN, Sohda M, Komaru K, Amizuka N. Clin Calcium; 2014 Feb 15; 24(2):233-9. PubMed ID: 24473356 [Abstract] [Full Text] [Related]
13. Evidence of a founder effect for the tissue-nonspecific alkaline phosphatase (TNSALP) gene E174K mutation in hypophosphatasia patients. Hérasse M, Spentchian M, Taillandier A, Mornet E. Eur J Hum Genet; 2002 Oct 15; 10(10):666-8. PubMed ID: 12357339 [Abstract] [Full Text] [Related]
14. Hypophosphatasia: validation and expansion of the clinical nosology for children from 25 years experience with 173 pediatric patients. Whyte MP, Zhang F, Wenkert D, McAlister WH, Mack KE, Benigno MC, Coburn SP, Wagy S, Griffin DM, Ericson KL, Mumm S. Bone; 2015 Jun 15; 75():229-39. PubMed ID: 25731960 [Abstract] [Full Text] [Related]
15. Molecular phenotype of tissue-nonspecific alkaline phosphatase with a proline (108) to leucine substitution associated with dominant odontohypophosphatasia. Numa-Kinjoh N, Komaru K, Ishida Y, Sohda M, Oda K. Mol Genet Metab; 2015 Aug 15; 115(4):180-5. PubMed ID: 25982064 [Abstract] [Full Text] [Related]
16. Characterization of eleven novel mutations (M45L, R119H, 544delG, G145V, H154Y, C184Y, D289V, 862+5A, 1172delC, R411X, E459K) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with severe hypophosphatasia. Mutations in brief no. 217. Online. Taillandier A, Zurutuza L, Muller F, Simon-Bouy B, Serre JL, Bird L, Brenner R, Boute O, Cousin J, Gaillard D, Heidemann PH, Steinmann B, Wallot M, Mornet E. Hum Mutat; 1999 Aug 15; 13(2):171-2. PubMed ID: 10094560 [Abstract] [Full Text] [Related]
17. Pyridoxine-responsive seizures as the first symptom of infantile hypophosphatasia caused by two novel missense mutations (c.677T>C, p.M226T; c.1112C>T, p.T371I) of the tissue-nonspecific alkaline phosphatase gene. Baumgartner-Sigl S, Haberlandt E, Mumm S, Scholl-Bürgi S, Sergi C, Ryan L, Ericson KL, Whyte MP, Högler W. Bone; 2007 Jun 15; 40(6):1655-61. PubMed ID: 17395561 [Abstract] [Full Text] [Related]
18. Molecular characterization of tissue-nonspecific alkaline phosphatase with an Ala to Thr substitution at position 116 associated with dominantly inherited hypophosphatasia. Ishida Y, Komaru K, Oda K. Biochim Biophys Acta; 2011 Mar 15; 1812(3):326-32. PubMed ID: 21168482 [Abstract] [Full Text] [Related]
19. A novel missense mutation of the tissue-nonspecific alkaline phosphatase gene detected in a patient with hypophosphatasia. Sugimoto N, Iwamoto S, Hoshino Y, Kajii E. J Hum Genet; 1998 Mar 15; 43(3):160-4. PubMed ID: 9747027 [Abstract] [Full Text] [Related]
20. A dimerization defect caused by a glycine substitution at position 420 by serine in tissue-nonspecific alkaline phosphatase associated with perinatal hypophosphatasia. Makita S, Al-Shawafi HA, Sultana S, Sohda M, Nomura S, Oda K. FEBS J; 2012 Dec 15; 279(23):4327-37. PubMed ID: 23039266 [Abstract] [Full Text] [Related] Page: [Next] [New Search]