Human Genome Epidemiology Literature Finder
Heart, Lung, Blood and Sleep Disorders
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Query Trace: Alpha-1 Antitrypsin Deficiency[original query] |
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Disease Status at Diagnosis in Danish Children with ? 1 -antitrypsin Deficiency. Journal of pediatric gastroenterology and nutrition 2022 9 75 (5): 629-634. Winther Christina Louise, Nyrann Sofie, Nielsen Rasmus Gaardskaer, Duno Morten, Johansen Klaus Birkelund, Helt Thora Wesenberg, Brix Christensen Vibe |
Unique and shared systemic biomarkers for emphysema in Alpha-1 Antitrypsin deficiency and chronic obstructive pulmonary disease. EBioMedicine 2022 9 84 104262. Serban K A, Pratte K A, Strange C, Sandhaus R A, Turner A M, Beiko T, Spittle D A, Maier L, Hamzeh N, Silverman E K, Hobbs B D, Hersh C P, DeMeo D L, Cho M H, Bowler R |
Disease progression in patients with PI*ZZ alpha-1 antitrypsin deficiency. European journal of gastroenterology & hepatology 2022 7 34 (8): 852-856. Shen Katie, Lyu Ruishen, Sengupta Shreya, Wakim-Fleming Jami |
Distribution of the Clinical Manifestations of Alpha 1 Antitrypsin Deficiency in Respiratory Outpatients from an Area of Northern Italy. Respiration; international review of thoracic diseases 2022 7 101 (9): 851-858. Aiello Marina, Marchi Laura, Ferrarotti Ilaria, Frizzelli Annalisa, Pisi Roberta, Calzetta Luigino, Manari Gaia, Pelà Giovanna, Russo Annalisa, Minerba Roberta, Aloe Rosalia, Ranzieri Silvia, Corradi Massimo, Chetta Alfre |
Identification of Pathogenic Variant Burden and Selection of Optimal Diagnostic Method Is a Way to Improve Carrier Screening for Autosomal Recessive Diseases. Journal of personalized medicine 2022 7 12 (7): . Sotnikova Evgeniia A, Kiseleva Anna V, Kutsenko Vladimir A, Zharikova Anastasia A, Ramensky Vasily E, Divashuk Mikhail G, Vyatkin Yuri V, Klimushina Marina V, Ershova Alexandra I, Revazyan Karina Z, Skirko Olga P, Zaicenoka Marija, Efimova Irina A, Pokrovskaya Maria S, Kopylova Oksana V, Glechan Anush M, Shalnova Svetlana A, Meshkov Alexey N, Drapkina Oxana |
Hepatic decompensation is accelerated in patients with cirrhosis and alpha-1 antitrypsin Pi?MZ genotype. JHEP reports : innovation in hepatology 2022 Jun 4 (6): 100483. Chen Vincent L, Burkholder Daniel A, Moran Isabel J, DiBattista Jacob V, Miller Matthew J, Chen Yanhua, Du Xiaomeng, Oliveri Antonino, Cushing Kelly C, Lok Anna S, Speliotes Elizabeth |
Thrombotic risk determined by rare and common SERPINA1 variants in a population-based cohort study. Journal of thrombosis and haemostasis : JTH 2022 3 20 (6): 1421-1427. Manderstedt Eric, Halldén Christer, Lind-Halldén Christina, Elf Johan, Svensson Peter J, Engström Gunnar, Melander Olle, Baras Aris, Lotta Luca A, Zöller Bengt, |
Frequency of alleles and genotypes associated with alpha-1 antitrypsin deficiency in clinical and general populations: Revelations about underdiagnosis. Pulmonology 2022 3 . Hernández-Pérez J M, Ramos-Díaz R, Vaquerizo-Pollino C, Pérez J |
Clinical and functional characteristics of individuals with alpha-1 antitrypsin deficiency: EARCO international registry. Respiratory research 2022 12 23 (1): 352. Miravitlles Marc, Turner Alice M, Torres-Duran María, Tanash Hanan, Rodríguez-García Carlota, López-Campos José Luis, Chlumsky Jan, Guimaraes Catarina, Rodríguez-Hermosa Juan Luis, Corsico Angelo, Martinez-González Cristina, Hernández-Pérez José María, Bustamante Ana, Parr David G, Casas-Maldonado Francisco, Hecimovic Ana, Janssens Wim, Lara Beatriz, Barrecheguren Miriam, González Cruz, Stolk Jan, Esquinas Cristina, Clarenbach Christian |
Frequency of alpha-1 antitrypsin deficiency and unexpected results in COPD patients in Turkey; rare variants are common. Turkish journal of medical sciences 2022 11 52 (5): 1478-1485. Çörtük Mustafa, Demirkol Bar??, Arslan Melih Akay, ?lhan Umut, Kalkan Yunus Emre, Turan Demet, Gül ?ule, Ç?narka Halit, Baydili Kür?ad Nuri, Çetinkaya Erdo? |
Genotypic Frequencies of Mutations Associated with Alpha-1 Antitrypsin Deficiency in Unrelated Bone Marrow Donors from the Murcia Region Donor Registry in the Southeast of Spain. Diagnostics (Basel, Switzerland) 2023 9 13 (17): . Irene Cuenca, Carmen Botella, María Rosa Moya-Quiles, Víctor Jimenez-Coll, José Antonio Galian, Helios Martinez-Banaclocha, Manuel Muro-Pérez, Alfredo Minguela, Isabel Legaz, Manuel Mu |
Liver disease progression in patients with alpha-1 antitrypsin deficiency and protease inhibitor ZZ genotype with or without lung disease. Alimentary pharmacology & therapeutics 2023 9 . Tiffany Wu, May Hagiwara, Esteban Gnass, Hannah Barman, David Sasson, William Treem, Kaili Ren, Ed G Marins, Chitra Karki, Harmeet Mal |
Population genetic testing and SERPINA1 sequencing identifies unidentified alpha-1 antitrypsin deficiency alleles and gene-environment interaction with hepatitis C infection. PloS one 2023 8 18 (8): e0286469. Bryce A Schuler, Lisa Bastarache, Janey Wang, Jing He, Sara L Van Driest, Joshua C Den |
Impact of PNPLA3 I148M on alpha-1 antitrypsin deficiency-dependent liver disease progression. Hepatology (Baltimore, Md.) 2023 8 . Ines Volkert, Malin Fromme, Carolin Schneider, Lena Candels, Cecilia Lindhauer, Huan Su, Katrine Thorhauge, Monica Pons, Mohamed Ramadan Mohamed, Kai Markus Schneider, Pavel Strnad, Christian Trautwe |
Prevalence of genetic mutations in alpha-1 antitrypsin deficiency (aatd) in patients with chronic obstructive pulmonary disease in Colombia. BMC pulmonary medicine 2023 5 23 (1): 156. Abraham Alí-Munive, Prada Leidy, Nadia Juliana Proaños, John Pedrozo-Pupo, Angela Giraldo, Diana Cano, Claudia Diaz-Bossa, Ricardo Mosquera, Hector Paul, Mauricio Gonzalez-García, Carlos Aguirre-Franco, José Luis López-Campos, Alejandro Casas-Herre |
Alpha-1 antitrypsin deficiency and Pi*S and Pi*Z SERPINA1 variants are associated with asthma exacerbations. Pulmonology 2023 5 . Elena Martín-González, José M Hernández-Pérez, José A Pérez Pérez, Javier Pérez-García, Esther Herrera-Luis, Ruperto González-Pérez, Orelvis González-González, Elena Mederos-Luis, Inmaculada Sánchez-Machín, Paloma Poza-Guedes, Olaia Sardón, Paula Corcuera, María J Cruz, Francisco J González-Barcala, Carlos Martínez-Rivera, Joaquim Mullol, Xavier Muñoz, José M Olaguibel, Vicente Plaza, Santiago Quirce, Antonio Valero, Joaquín Sastre, Javier Korta-Murua, Victoria Del Pozo, Fabián Lorenzo-Díaz, Jesús Villar, María Pino-Yanes, Mario A González-Carrace |
Impact of Bronchiectasis on COPD Severity and Alpha-1 Antitrypsin Deficiency as a Risk Factor in Individuals with a Heavy Smoking History. Chronic obstructive pulmonary diseases (Miami, Fla.) 2023 5 . Manuel Izquierdo, Chad R Marion, Frank Genese, John D Newell, Wanda K O'Neal, Xingnan Li, Gregory A Hawkins, Igor Barjaktarevic, R Graham Barr, Stephanie Christenson, Christopher B Cooper, David Couper, Jeffrey Curtis, Meilan K Han, Nadia N Hansel, Richard E Kanner, Fernando J Martinez, Robert Paine, Vickram Tejwani, Prescott G Woodruff, Joe G Zein, Eric A Hoffman, Stephen P Peters, Deborah A Meyers, Eugene R Bleecker, Victor E Ortega, |
Meta-analysis: Prevalence of significant or advanced fibrosis in adults with alpha-1-antitrypsin deficiency. Alimentary pharmacology & therapeutics 2023 4 . Daniel Q Huang, Kai En Chan, Caitlyn Tan, Rebecca Wenling Zeng, Benjamin Koh, Elden Yen Hng Ong, Charlotte Chung Hui Ong, Christen En Ya Ong, Darren J H Tan, Wen Hui Lim, Elina Cho, Eunice X X Tan, Margaret L P Teng, Cheng Han Ng, Benjamin Nah, Mei Chin Lim, Mark Muthiah, Virginia C Clark, Rohit Loom |
Comprehensive Clinical Diagnostic Pipelines Reveal New Variants in Alpha-1-Antitrypsin Deficiency. American journal of respiratory cell and molecular biology 0 . Ottaviani Stefania, Bartoli Giulia, Carroll Tomás P, Gangemi Fabrizio, Balderacchi Alice M, Barzon Valentina, Corino Alessandra, Piloni Davide, McElvaney Noel G, Corsico Angelo G, Irving James A, Fra Annamaria, Ferrarotti Ilar |
Estimated Worldwide Prevalence of the PI*ZZ Alpha-1 Antitrypsin Genotype in Subjects With Chronic Obstructive Pulmonary Disease. Archivos de bronconeumologia 2023 4 . Blanco Ignacio, Diego Isidro, Castañón César, Bueno Patricia, Miravitlles Ma |
Comparison of COVID-19 Outcomes With Alpha-1 Antitrypsin Deficiency Prevalence in Europe: A Cross-Sectional Study. Cureus 2023 3 15 (1): e34293. Sezgin Y?lmaz, Becel Sinan, Kaplan A?k?n |
An Alpha-1 Antitrypsin Deficiency Screening Study in Patients with Chronic Obstructive Pulmonary Disease, Bronchiectasis, or Asthma in Turkey. International journal of chronic obstructive pulmonary disease 2023 12 18 2785-2794. Seda Tural Onur, Antonino Natoli, Bettina Dreger, Sibel Ar?nç, Nurhan Sar?o?lu, Mustafa Çörtük, Dilek Karado?an, Abdurrahman ?enyi?it, Birsen P?nar Y?ld?z, Nurdan Köktürk, Serap Argun Bar?s, Sümeyye Kodalak Cengiz, Mehmet Polat |
Characteristics of Patients With Alpha-1 Antitrypsin Deficiency From Rural Appalachia: A Retrospective Single-Center Study. Cureus 2024 4 16 (3): e56395. Sandhya Kolagatla, Dedeepya Gullapalli, Avinash Vangara, Regina Chan, Derek Jernigan, Nagabhishek Moka, Subramanya Shyam Gan |
- Page last reviewed:Feb 1, 2024
- Page last updated:Jun 17, 2024
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