Human Genome Epidemiology Literature Finder
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Records 1 - 29 (of 29 Records) |
| Query Trace: Disease and ALPL[original query] |
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Genome-wide association study of vitamin B6, vitamin B12, folate, and homocysteine blood concentrations.
American journal of human genetics 2009 Mar . Tanaka T, Scheet P, Giusti B, Bandinelli S, Piras MG, Usala G, Lai S, Mulas A, Corsi AM, Vestrini A, Sofi F, Gori AM, Abbate R, Guralnik J, Singleton A, Abecasis GR, Schlessinger D, Uda M, Ferrucci L |
| 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 |
| Common and rare variants associated with kidney stones and biochemical traits.
Nature communications 2015 6 7975. Oddsson Asmundur, Sulem Patrick, Helgason Hannes, Edvardsson Vidar O, Thorleifsson Gudmar, Sveinbjörnsson Gardar, Haraldsdottir Eik, Eyjolfsson Gudmundur I, Sigurdardottir Olof, Olafsson Isleifur, Masson Gisli, Holm Hilma, Gudbjartsson Daniel F, Thorsteinsdottir Unnur, Indridason Olafur S, Palsson Runolfur, Stefansson Ka |
| Molecular Genetics of Hypophosphatasia and Phenotype-Genotype Correlations. Sub-cellular biochemistry 2015 76 25-43. Mornet Etien |
| Pharmacogenetic analysis of cinacalcet response in secondary hyperparathyroidism patients. Drug design, development and therapy 2016 10 2211-25. Jeong Sohyun, Kim In-Wha, Oh Kook-Hwan, Han Nayoung, Joo Kwon Wook, Kim Hyo Jin, Oh Jung |
| A Genetic Variant in FIGN Gene Reduces the Risk of Congenital Heart Disease in Han Chinese Populations. Pediatric cardiology 2017 May . Wang Dan, Chu Maoping, Wang Feng, Zhou Aihua, Ruan Miaohua, Chen Yimi |
| 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 |
| 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 |
| Common Variants in ALPL Gene Contribute to the Risk of Kidney Stones in the Han Chinese Population. Genetic testing and molecular biomarkers 2018 Feb . Li Xiaoming, Dang Xingbo, Cheng Yongyi, Zhang Duping, Zhang Xinyu, Zou Tiejun, Xing Junpi |
| 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 |
| 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 |
| 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 |
| 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 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 |
| 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 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 |
| 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 |
| Whole genome sequencing in adults with clinical hallmarks of hypophosphatasia negative for ALPL variants. Molecular biology reports 2024 9 51 (1): 984. Lothar Seefried, Anna Petryk, Guillermo Del Angel, Felix Reder, Peter Bau |
| Vascular calcification in chronic kidney disease associated with pathogenic variants in ABCC6. Gene 2024 6 927 148731. Clara Schott, Allison A Dilliott, Jian Wang, Adam D McIntyre, Surim Son, Samantha Colaiacovo, Cadence Baker, Lakshman Gunaratnam, Andrew A House, Shih-Han Susan Huang, Hariharan Iyer, John Johnson, Khaled Lotfy, Mario Masellis, Douglas P Munoz, Faisal Rehman, Pavel S Roshanov, Richard H Swartz, Matthew A Weir, Robert A Hegele, Dervla M Connaught |
| Elucidating the role of liver enzymes as markers and regulators in ovarian cancer: a synergistic approach using Mendelian randomization, single-cell analysis, and clinical evidence. Human genomics 2024 6 18 (1): 71. Yinxing Zhu, Min Jiang, Zihan Gu, Hongyu Shang, Caiyin Tang, Ting G |
| New insights into the landscape of ALPL gene variants in patients with hypophosphatasia from the Global HPP Registry. American journal of medical genetics. Part A 2024 6 e63781. Priya S Kishnani, Lothar Seefried, Kathryn M Dahir, Gabriel Ángel Martos-Moreno, Agnès Linglart, Anna Petryk, William R Mowrey, Shona Fang, Keiichi Ozono, Wolfgang Högler, Cheryl Rockman-Greenbe |
| CASR, CLDN 14, ALPL & SLC34A1 genes are associated with the risk of nephrolithiasis in Egyptian children. Journal of pediatric urology 2025 1 . Fatina I Fadel, Manal F Elshamaa, Mervat Ismail, Alaa Rashad, Ashraf Galal, Solaf Kamel, Eman Awadallah, Rasha Nazeeh, Eman Mahmoud, Yasmin Ramad |
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