These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
84. Hypophosphatasia: an overview of the disease and its treatment. Bianchi ML Osteoporos Int; 2015 Dec; 26(12):2743-57. PubMed ID: 26245849 [TBL] [Abstract][Full Text] [Related]
85. Correlations of genotype and phenotype in hypophosphatasia. Zurutuza L; Muller F; Gibrat JF; Taillandier A; Simon-Bouy B; Serre JL; Mornet E Hum Mol Genet; 1999 Jun; 8(6):1039-46. PubMed ID: 10332035 [TBL] [Abstract][Full Text] [Related]
86. [Infantile hypophosphatasia due to mutations in the tissue-nonspecific alkaline phosphatase gene]. Zhao Z; Xia WB; Xing XP; Li M; Wang O; Jiang Y; Xu LJ; Li N Zhonghua Nei Ke Za Zhi; 2013 Oct; 52(10):824-8. PubMed ID: 24378058 [TBL] [Abstract][Full Text] [Related]
88. Monoallelic FGFR3 and Biallelic ALPL mutations in a Thai girl with hypochondroplasia and hypophosphatasia. Porntaveetus T; Srichomthong C; Suphapeetiporn K; Shotelersuk V Am J Med Genet A; 2017 Oct; 173(10):2747-2752. PubMed ID: 28763161 [TBL] [Abstract][Full Text] [Related]
89. Early prenatal sonographic diagnosis of congenital hypophosphatasia. Tongsong T; Pongsatha S Ultrasound Obstet Gynecol; 2000 Mar; 15(3):252-5. PubMed ID: 10846783 [TBL] [Abstract][Full Text] [Related]
90. Isoenzymes of alkaline phosphatase in infantile hypophosphatasia. Mueller HD; Stinson RA; Mohyuddin F; Milne JK J Lab Clin Med; 1983 Jul; 102(1):24-30. PubMed ID: 6854132 [TBL] [Abstract][Full Text] [Related]
91. Carrier diagnosis by RFLP analysis in a family affected with infantile hypophosphatasia: case report. Akane A; Shiono H; Matsubara K; Nakamura H; Hasegawa M; Kagawa M; Kobayashi A; Mori C Jinrui Idengaku Zasshi; 1991 Dec; 36(4):335-9. PubMed ID: 1687418 [No Abstract] [Full Text] [Related]
92. [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 [TBL] [Abstract][Full Text] [Related]
93. Novel missense and frameshift mutations in the tissue-nonspecific alkaline phosphatase gene in a Japanese patient with hypophosphatasia. Orimo H; Hayashi Z; Watanabe A; Hirayama T; Hirayama T; Shimada T Hum Mol Genet; 1994 Sep; 3(9):1683-4. PubMed ID: 7833929 [No Abstract] [Full Text] [Related]
94. 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; 13(2):171-2. PubMed ID: 10094560 [TBL] [Abstract][Full Text] [Related]
95. A novel point mutation (C571T) in the tissue-non-specific alkaline phosphatase gene in a case of adult-type hypophosphatasia. Watanabe H; Hashimoto-Uoshima M; Goseki-Sone M; Orimo H; Ishikawa I Oral Dis; 2001 Nov; 7(6):331-5. PubMed ID: 11834095 [TBL] [Abstract][Full Text] [Related]
96. Prenatal presentation and postnatal evolution of a patient with Jansen metaphyseal dysplasia with a novel missense mutation in PTH1R. Savoldi G; Izzi C; Signorelli M; Bondioni MP; Romani C; Lanzi G; Moratto D; Verdoni L; Pinotti M; Prefumo F; Superti-Furga A; Pilotta A Am J Med Genet A; 2013 Oct; 161A(10):2614-9. PubMed ID: 23950054 [TBL] [Abstract][Full Text] [Related]
98. Molecular diagnosis for 55 fetuses with skeletal dysplasias by whole-exome sequencing: A retrospective cohort study. Zhang L; Pan L; Teng Y; Liang D; Li Z; Wu L Clin Genet; 2021 Aug; 100(2):219-226. PubMed ID: 33942288 [TBL] [Abstract][Full Text] [Related]