185 related articles for article (PubMed ID: 21638016)
1. Novel heterozygous tissue-nonspecific alkaline phosphatase (TNAP) gene mutations causing lethal perinatal hypophosphatasia.
Chang KC; Lin PH; Su YN; Peng SS; Lee NC; Chou HC; Chen CY; Hsieh WS; Tsao PN
J Bone Miner Metab; 2012 Jan; 30(1):109-13. PubMed ID: 21638016
[TBL] [Abstract][Full Text] [Related]
2. Lethal perinatal hypophosphatasia caused by a novel compound heterozygous mutation: a case report.
Yu F; Wang J; Xu X
BMC Pediatr; 2019 Apr; 19(1):109. PubMed ID: 30979366
[TBL] [Abstract][Full Text] [Related]
3. Tissue non-specific alkaline phosphatase activity and mineralization capacity of bi-allelic mutations from severe perinatal and asymptomatic hypophosphatasia phenotypes: Results from an in vitro mutagenesis model.
Uday S; Matsumura T; Saraff V; Saito S; Orimo H; Högler W
Bone; 2019 Oct; 127():9-16. PubMed ID: 31146036
[TBL] [Abstract][Full Text] [Related]
4. Compound heterozygosity of two functional null mutations in the ALPL gene associated with deleterious neurological outcome in an infant with hypophosphatasia.
Hofmann C; Liese J; Schwarz T; Kunzmann S; Wirbelauer J; Nowak J; Hamann J; Girschick H; Graser S; Dietz K; Zeck S; Jakob F; Mentrup B
Bone; 2013 Jul; 55(1):150-7. PubMed ID: 23454488
[TBL] [Abstract][Full Text] [Related]
5. Severe perinatal hypophosphatasia due to homozygous deletion of T at nucleotide 1559 in the tissue nonspecific alkaline phosphatase gene.
Sawai H; Kanazawa N; Tsukahara Y; Koike K; Udagawa H; Koyama K; Mornet E
Prenat Diagn; 2003 Sep; 23(9):743-6. PubMed ID: 12975786
[TBL] [Abstract][Full Text] [Related]
6. 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; 103(3):235-40. PubMed ID: 11745997
[TBL] [Abstract][Full Text] [Related]
7. 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; 18(1):83-4. PubMed ID: 11438998
[TBL] [Abstract][Full Text] [Related]
8. 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
[TBL] [Abstract][Full Text] [Related]
9. A case of lethal hypophosphatasia providing new insights into the perinatal benign form of hypophosphatasia and expression of the ALPL gene.
Brun-Heath I; Chabrol E; Fox M; Drexler K; Petit C; Taillandier A; De Mazancourt P; Serre JL; Mornet E
Clin Genet; 2008 Mar; 73(3):245-50. PubMed ID: 17922851
[TBL] [Abstract][Full Text] [Related]
10. Different missense mutations at the tissue-nonspecific alkaline phosphatase gene locus in autosomal recessively inherited forms of mild and severe hypophosphatasia.
Henthorn PS; Raducha M; Fedde KN; Lafferty MA; Whyte MP
Proc Natl Acad Sci U S A; 1992 Oct; 89(20):9924-8. PubMed ID: 1409720
[TBL] [Abstract][Full Text] [Related]
11. Intrafamilial phenotypic distinction of hypophosphatasia with identical tissue nonspecific alkaline phosphatase gene mutation: a family report.
Kato M; Hattori T; Shimizu T; Ninagawa K; Izumihara R; Nomoto H; Tanimura K; Atsumi T
J Bone Miner Metab; 2020 Nov; 38(6):903-907. PubMed ID: 32772198
[TBL] [Abstract][Full Text] [Related]
12. A missense mutation in the human liver/bone/kidney alkaline phosphatase gene causing a lethal form of hypophosphatasia.
Weiss MJ; Cole DE; Ray K; Whyte MP; Lafferty MA; Mulivor RA; Harris H
Proc Natl Acad Sci U S A; 1988 Oct; 85(20):7666-9. PubMed ID: 3174660
[TBL] [Abstract][Full Text] [Related]
13. Perinatal hypophosphatasia caused by uniparental isodisomy.
Watanabe A; Satoh S; Fujita A; Naing BT; Orimo H; Shimada T
Bone; 2014 Mar; 60():93-7. PubMed ID: 24334170
[TBL] [Abstract][Full Text] [Related]
14. Hypophosphatasia: the mutations in the tissue-nonspecific alkaline phosphatase gene.
Mornet E
Hum Mutat; 2000; 15(4):309-15. PubMed ID: 10737975
[TBL] [Abstract][Full Text] [Related]
15. 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
[TBL] [Abstract][Full Text] [Related]
16. Mutations of the tissue non-specific alkaline phosphatase gene (TNAP) causing a non-lethal case of perinatal hypophosphatasia.
Peach CA; Zhang Y; Wordsworth BP
Rheumatology (Oxford); 2007 Jun; 46(6):1037-40. PubMed ID: 17409132
[No Abstract] [Full Text] [Related]
17. Identification of the mutations in the tissue-nonspecific alkaline phosphatase gene in two Chinese families with hypophosphatasia.
Zhang H; Ke YH; Wang C; Yue H; Hu WW; Gu JM; Zhang ZL
Arch Med Res; 2012 Jan; 43(1):21-30. PubMed ID: 22300680
[TBL] [Abstract][Full Text] [Related]
18. Novel ALPL genetic alteration associated with an odontohypophosphatasia phenotype.
Martins L; Rodrigues TL; Ribeiro MM; Saito MT; Giorgetti AP; Casati MZ; Sallum EA; Foster BL; Somerman MJ; Nociti FH
Bone; 2013 Oct; 56(2):390-7. PubMed ID: 23791648
[TBL] [Abstract][Full Text] [Related]
19. Characterization of six missense mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in Chinese children with hypophosphatasia.
Yang H; Wang L; Geng J; Yu T; Yao RE; Shen Y; Yin L; Ying D; Huang R; Zhou Y; Chen H; Liu L; Mo X; Shen Y; Fu Q; Yu Y
Cell Physiol Biochem; 2013; 32(3):635-44. PubMed ID: 24022022
[TBL] [Abstract][Full Text] [Related]
20. Asp361Val Mutant of alkaline phosphatase found in patients with dominantly inherited hypophosphatasia inhibits the activity of the wild-type enzyme.
Müller HL; Yamazaki M; Michigami T; Kageyama T; Schönau E; Schneider P; Ozono K
J Clin Endocrinol Metab; 2000 Feb; 85(2):743-7. PubMed ID: 10690885
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]