Human Genome Epidemiology Literature Finder
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Records 1 - 26 (of 26 Records) |
| Query Trace: Hypophosphatasia and ALPL[original query] |
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| Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound heterozygosity for severe and moderate alleles. BMC medical genetics 2009 10 (1): 51. Fauvert Delphine, Brun-Heath Isabelle, Lia-Baldini Anne-Sophie, Bellazi Linda, Taillandier Agnès, Serre Jean-Louis, de Mazancourt Philippe, Mornet Etien |
| Prevalence of c.1559delT in ALPL, a common mutation resulting in the perinatal (lethal) form of hypophosphatasia in Japanese and effects of the mutation on heterozygous carriers. Journal of human genetics 2011 Feb 56 (2): 166-8. Watanabe Atsushi, Karasugi Tatsuki, Sawai Hideaki, Naing Banyar Than, Ikegawa Shiro, Orimo Hideo, Shimada Takas |
| A molecular-based estimation of the prevalence of hypophosphatasia in the European population. Annals of human genetics 2011 May 75 (3): 439-45. Mornet Etienne, Yvard Alice, Taillandier Agnes, Fauvert Delphine, Simon-Bouy Brigit |
| A study of the association between serum bone-specific alkaline phosphatase and serum phosphorus concentration or dietary phosphorus intake. Journal of nutritional science and vitaminology 2012 58 (6): 442-5. Haraikawa Mayu, Tanabe Rieko, Sogabe Natsuko, Sugimoto Aoi, Kawamura Yuka, Michigami Toshimi, Hosoi Takayuki, Goseki-Sone Mas |
| Molecular Genetics of Hypophosphatasia and Phenotype-Genotype Correlations. Sub-cellular biochemistry 2015 76 25-43. Mornet Etien |
| Clinical, biochemical and genetic spectrum of low alkaline phosphatase levels in adults. European journal of internal medicine 2016 Jan . Riancho-Zarrabeitia Leyre, García-Unzueta Mayte, Tenorio Jair A, Gómez-Gerique Juan A, Ruiz Pérez Víctor L, Heath Karen E, Lapunzina Pablo, Riancho José |
| Genetic analysis of adults heterozygous for ALPL mutations. Journal of bone and mineral metabolism 2017 12 36 (6): 723-733. Taillandier Agnès, Domingues Christelle, Dufour Annika, Debiais Françoise, Guggenbuhl Pascal, Roux Christian, Cormier Catherine, Cortet Bernard, Porquet-Bordes Valérie, Coury Fabienne, Geneviève David, Chiesa Jean, Colin Thierry, Fletcher Elaine, Guichet Agnès, Javier Rose-Marie, Laroche Michel, Laurent Michael, Lausch Ekkehart, LeHeup Bruno, Lukas Cédric, Schwabe Georg, van der Burgt Ineke, Muti Christine, Simon-Bouy Brigitte, Mornet Etien |
| [Diagnostics and treatment of hypophosphatasia]. Ugeskrift for laeger 2018 8 180 (35): . Hepp Nicola, Frederiksen Anja Lisbeth, Khosravi Jalda, Jensen Jens-Erik Be |
| Rare Variants in the Gene ALPL That Cause Hypophosphatasia Are Strongly Associated With Ovarian and Uterine Disorders. The Journal of clinical endocrinology and metabolism 2018 4 103 (6): 2234-2243. Dahir Kathryn M, Tilden Daniel R, Warner Jeremy L, Bastarache Lisa, Smith Derek K, Gifford Aliya, Ramirez Andrea H, Simmons Jill S, Black Margo M, Newman John H, Denny Josh |
| Epidemiological, Clinical and Genetic Study of Hypophosphatasia in A Spanish Population: Identification of Two Novel Mutations in The Alpl Gene. Scientific reports 2019 7 9 (1): 9569. García-Fontana Cristina, Villa-Suárez Juan M, Andújar-Vera Francisco, González-Salvatierra Sheila, Martínez-Navajas Gonzalo, Real Pedro J, Gómez Vida José M, de Haro Tomás, García-Fontana Beatriz, Muñoz-Torres Manu |
| Hypophosphatasia: A Novel Mutation Associated with an Atypical Newborn Presentation. Journal of clinical research in pediatric endocrinology 2019 4 12 (1): 104-108. Esmel-Vilomara Roger, Hernández Susana, Campos-Martorell Ariadna, González-Roca Eva, Yeste Diego, Castillo Fél |
| Loss-of-Function Mutations in the ALPL Gene Presenting with Adult Onset Osteoporosis and Low Serum Concentrations of Total Alkaline Phosphatase. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2019 Dec . Alonso Nerea, Larraz-Prieto Beatriz, Berg Kathryn, Lambert Zoe, Redmond Paul, Harris Sarah E, Deary Ian J, Pugh Carys, Prendergast James, Ralston Stuart |
| Association of ALPL variants with serum alkaline phosphatase and bone traits in the general Japanese population: The Nagahama Study. Journal of human genetics 2019 12 65 (3): 337-343. Nagata Miho, Setoh Kazuya, Takahashi Meiko, Higasa Koichiro, Kawaguchi Takahisa, Kawasaki Hidenori, Wada Takahito, Watanabe Atsushi, Sawai Hideaki, Tabara Yasuharu, Yamada Takahiro, Matsuda Fumihiko, Kosugi Shin |
| Hypophosphatasia in Japan: ALPL Mutation Analysis in 98 Unrelated Patients. Calcified tissue international 2019 11 106 (3): 221-231. Michigami Toshimi, Tachikawa Kanako, Yamazaki Miwa, Kawai Masanobu, Kubota Takuo, Ozono Keiic |
| Identification of a novel homozygous variant in the alkaline phosphate (ALPL) gene associated with hypophosphatasia. Clinical case reports 2020 9 8 (9): 1719-1721. Bisgin Atil, Boga Ibrahim, Cetin Cihan, Buyukkurt Sel |
| Phenotypic Profiling in Subjects Heterozygous for 1 of 2 Rare Variants in the Hypophosphatasia Gene (ALPL). Journal of the Endocrine Society 2020 8 4 (8): bvaa084. Tilden Daniel R, Sheehan Jonathan H, Newman John H, Meiler Jens, Capra John A, Ramirez Andrea, Simmons Jill, Dahir Kathr |
| Clinical Significance of Hypophosphatasemia in Children. Calcified tissue international 2020 Feb . Bayramli Rana, Cevlik Tulay, Guran Tulay, Atay Zeynep, Bas Serpil, Haklar Goncagul, Bereket Abdullah, Turan Ser |
| Genotype-Phenotype Associations in 72 Adults with Suspected ALPL-Associated Hypophosphatasia. Calcified tissue international 2020 11 108 (3): 288-301. Jandl Nico Maximilian, Schmidt Tobias, Rolvien Tim, Stürznickel Julian, Chrysostomou Konstantin, von Vopelius Emil, Volk Alexander E, Schinke Thorsten, Kubisch Christian, Amling Michael, Barvencik Flori |
| Polymorphic variants of alkaline phosphatase gene correlate with clinical signs of adult hypophosphatasia? Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA 2021 6 32 (12): 2461-2472. Masi L, Marini F, Franceschelli F, Leoncini G, Cianferotti L, Cioppi F, Giusti F, Marcucci G, Gronchi G, Brandi M |
| Clinical and molecular findings in children and young adults with persistent low alkaline phosphatase concentrations. Annals of clinical biochemistry 2021 2 58 (4): 335-341. Araci Mehmet Bilal, Akgun Bilcag, Atik Tahir, Isik Esra, Ak Gunes, Barutcuoglu Burcu, Ozkinay Fer |
| ALPL Genotypes in Patients With Atypical Femur Fractures or Other Biochemical and Clinical Signs of Hypophosphatasia. The Journal of clinical endocrinology and metabolism 2021 12 107 (5): e2087-e2094. Marini Francesca, Masi Laura, Giusti Francesca, Cianferotti Luisella, Cioppi Federica, Marcucci Gemma, Ciuffi Simone, Biver Emmanuel, Toro Giuseppe, Iolascon Giovanni, Iantomasi Teresa, Brandi Maria Lui |
| Prevalence of low alkaline phosphatase activity in laboratory assessment: Is hypophosphatasia an underdiagnosed disease? Orphanet journal of rare diseases 2021 10 16 (1): 452. Schmidt Tobias, Schmidt Constantin, Amling Michael, Kramer Jan, Barvencik Flori |
| Genetic Diagnostics in Routine Osteological Assessment of Adult Low Bone Mass Disorders. The Journal of clinical endocrinology and metabolism 2022 3 107 (7): e3048-e3057. Oheim Ralf, Tsourdi Elena, Seefried Lothar, Beller Gisela, Schubach Max, Vettorazzi Eik, Stürznickel Julian, Rolvien Tim, Ehmke Nadja, Delsmann Alena, Genest Franca, Krüger Ulrike, Zemojtel Tomasz, Barvencik Florian, Schinke Thorsten, Jakob Franz, Hofbauer Lorenz C, Mundlos Stefan, Kornak U |
| Osteoporosis related to WNT1 variants: a not infrequent cause of osteoporosis. Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA 2022 11 34 (2): 405-411. Peris Pilar, Monegal Ana, Mäkitie Riikka E, Guañabens Nuria, González-Roca E |
| Clinical and Genetic Characteristics of Pediatric Patients with Hypophosphatasia in the Russian Population. International journal of molecular sciences 2022 11 23 (21): . Glotov Oleg S, Savostyanov Kirill V, Nagornova Tatyana S, Chernov Alexandr N, Fedyakov Mikhail A, Raspopova Aleksandra N, Krasnoukhov Konstantin N, Danilov Lavrentii G, Moiseeva Nadegda V, Kalinin Roman S, Tsai Victoria V, Eismont Yuri A, Voinova Victoria Y, Vitebskaya Alisa V, Gurkina Elena Y, Kuzenkova Ludmila M, Sosnina Irina B, Pushkov Alexander A, Zhanin Ilya S, Zakharova Ekaterina |
| Clinical and Genetic Characteristics of Hypophosphatasia in Chinese Adults. Genes 2023 4 14 (4): . Xiang Li, Na Ren, Ziyuan Wang, Ya Wang, Yunqiu Hu, Weiwei Hu, Jiemei Gu, Wei Hong, Zhenlin Zhang, Chun Wa |
- Page last reviewed:Feb 1, 2023
- Page last updated:Jun 02, 2023
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