Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 59 Records) |
Query Trace: ALPL[original query] |
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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 |
ALPL mutations in adults with rheumatologic disorders and low serum alkaline phosphatase activity. Journal of bone and mineral metabolism 2019 2 37 (5): 893-899. Rauch Frank, Bardai Ghalib, Rockman-Greenberg Cher |
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 |
The rs1256328 (ALPL) and rs12654812 (RGS14) Polymorphisms are Associated with Susceptibility to Calcium Nephrolithiasis in a Taiwanese population. Scientific reports 2019 Nov 9 (1): 17296. Chen Wei-Chiao, Chou Wan-Hsuan, Chu Hou-Wei, Huang Chi-Chen, Liu Xiao, Chang Wei-Pin, Chou Yii-Her, Chang Wei-Chi |
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 |
Gene coexpression network analysis revealed biomarkers correlated with blast cells and survival in acute myeloid leukemia. Molecular and clinical oncology 2020 4 12 (5): 475-484. Pan Yuming, Zhang Qiaoxia, Deng Xiaopeng, An Na, Du Xin, Liu Jiaj |
Genetic Association Analyses Highlight IL6, ALPL, and NAV1 As 3 New Susceptibility Genes Underlying Calcific Aortic Valve Stenosis.
Circulation. Genomic and precision medicine 2019 10 12 (10): e002617. Thériault Sébastien, Dina Christian, Messika-Zeitoun David, Le Scouarnec Solena, Capoulade Romain, Gaudreault Nathalie, Rigade Sidwell, Li Zhonglin, Simonet Floriane, Lamontagne Maxime, Clavel Marie-Annick, Arsenault Benoit J, Boureau Anne-Sophie, Lecointe Simon, Baron Estelle, Bonnaud Stéphanie, Karakachoff Matilde, Charpentier Eric, Fellah Imen, Roussel Jean-Christian, Philippe Verhoye Jean, Baufreton Christophe, Probst Vincent, Roussel Ronan, , Redon Richard, Dagenais François, Pibarot Philippe, Mathieu Patrick, Le Tourneau Thierry, Bossé Yohan, Schott Jean-Jacqu |
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 |
Genetic polymorphisms in CLDN14 (rs219780) and ALP (rs1256328) genes are associated with risk of nephrolithiasis in Egyptian children. Turkish journal of urology 2020 Oct . Elshamaa Manal F, Fadel Fatina I, Kamel Soal, Farouk Hebatallah, Alahmady Mostafa, Ramadan Yas |
Genetic variants in the folate metabolic pathway genes predict cutaneous melanoma-specific survival. The British journal of dermatology 2020 Jan . Dai W, Liu H, Liu Y, Xu X, Qian D, Luo S, Cho E, Zhu D, Amos C I, Fang S, Lee J E, Li X, Nan H, Li C, Wei |
Clinical, biochemical and genetic findings in adult patients with chronic hypophosphatasemia. Journal of endocrinological investigation 2021 7 45 (1): 125-137. Guarnieri V, Sileri F, Indirli R, Guabello G, Longhi M, Dito G, Verdelli C, Corbetta |
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 |
Association of CASR, CALCR, and ORAI1 Genes Polymorphisms With the Calcium Urolithiasis Development in Russian Population. Frontiers in genetics 2021 12 621049. Litvinova Maria M, Khafizov Kamil, Korchagin Vitaly I, Speranskaya Anna S, Asanov Aliy Yu, Matsvay Alina D, Kiselev Daniil A, Svetlichnaya Diana V, Nuralieva Sevda Z, Moskalev Alexey A, Filippova Tamara |
Clinical and Genetic Characterization of Craniosynostosis in Saudi Arabia. Frontiers in pediatrics 2021 5 9 582816. Alghamdi Malak, Alhumsi Taghreed R, Altweijri Ikhlass, Alkhamis Waleed H, Barasain Omar, Cardona-Londoño Kelly J, Ramakrishnan Reshmi, Guzmán-Vega Francisco J, Arold Stefan T, Ali Ghaida, Adly Nouran, Ali Hebatallah, Basudan Ahmed, Bakhrebah Muhammed |
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 |
Whole exome sequencing reveals potentially pathogenic variants in a small subset of premenopausal women with idiopathic osteoporosis. Bone 2021 11 154 116253. Cohen Adi, Hostyk Joseph, Baugh Evan H, Buchovecky Christie M, Aggarwal Vimla S, Recker Robert R, Lappe Joan M, Dempster David W, Zhou Hua, Kamanda-Kosseh Mafo, Bucovsky Mariana, Stubby Julie, Goldstein David B, Shane Elizabe |
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 Variants Involved in the Crystallization Pathway Are Associated with Calcium Nephrolithiasis in the Chinese Han Population. Genes 2022 May 13 (6): . Wang Lujia, Lin Xiaoling, Zhou Zijian, Yang Yuanyuan, Gao Peng, Wu Zho |
Identifying selection signatures and runs of homozygosity for spine curvature in Chinese indigenous pigs. Animal genetics 2022 5 53 (4): 513-517. Jiayuan Mo, Yujie Lu, Kuirong Chen, Siran Zhu, Wenjing Qi, Lingli Feng, Xiaoxiao Liu, Liang Liang, Ganqiu Lan, Jing Lia |
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 |
The effect of ALPL gene polymorphism on the development of urolithiasis in the Turkish population. Urolithiasis 2022 12 51 (1): 23. ?brahim Altundag, Esra Guzel Tanoglu, Burcu Genc Yavuz, Burhanettin Yalcinkaya, Emrah Yürek, ?ahin Çol |
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 |
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- Page last updated:Apr 22, 2024
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