Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 12 (of 12 Records) |
Query Trace: Aicardi-goutieres Syndrome[original query] |
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Evaluation of the TREX1 gene in a large multi-ancestral lupus cohort. Genes and immunity 2011 Jun 12 (4): 270-9. Namjou B, Kothari P H, Kelly J A, Glenn S B, Ojwang J O, Adler A, Alarcón-Riquelme M E, Gallant C J, Boackle S A, Criswell L A, Kimberly R P, Brown E, Edberg J, Stevens A M, Jacob C O, Tsao B P, Gilkeson G S, Kamen D L, Merrill J T, Petri M, Goldman R R, Vila L M, Anaya J-M, Niewold T B, Martin J, Pons-Estel B A, Sabio J M, Callejas J L, Vyse T J, Bae S-C, Perrino F W, Freedman B I, Scofield R H, Moser K L, Gaffney P M, James J A, Langefeld C D, Kaufman K M, Harley J B, Atkinson J |
Polymorphisms of the SAMHD1 gene are not associated with the infection and natural control of HIV type 1 in Europeans and African-Americans. AIDS research and human retroviruses 2012 Dec 28 (12): 1565-73. Coon Sirena, Wang Danxin, Wu |
Typing TREX1 gene in patients with systemic lupus erythematosus. Reumatismo 2015 67 (1): 1-7. Fredi M, Bianchi M, Andreoli L, Greco G, Olivieri I, Orcesi S, Fazzi E, Cereda C, Tincani |
Genetic analysis of leukocyte type-I interferon production and risk of coronary artery disease. Arteriosclerosis, thrombosis, and vascular biology 2015 Jun 35 (6): 1456-62. Nelson Christopher P, Schunkert Heribert, Samani Nilesh J, Erridge Cle |
Rare ADAR and RNASEH2B variants and a type I interferon signature in glioma and prostate carcinoma risk and tumorigenesis. Acta neuropathologica 2017 Oct . Beyer Ulrike, Brand Frank, Martens Helge, Weder Julia, Christians Arne, Elyan Natalie, Hentschel Bettina, Westphal Manfred, Schackert Gabriele, Pietsch Torsten, Hong Bujung, Krauss Joachim K, Samii Amir, Raab Peter, Das Anibh, Dumitru Claudia A, Sandalcioglu I Erol, Hakenberg Oliver W, Erbersdobler Andreas, Lehmann Ulrich, Reifenberger Guido, Weller Michael, Reijns Martin A M, Preller Matthias, Wiese Bettina, Hartmann Christian, Weber Ruthild |
Combination of exome sequencing and immune testing confirms Aicardi-Goutières syndrome type 5 in a challenging pediatric neurology case. Cold Spring Harbor molecular case studies 2018 10 4 (5): . Haskell Gloria T, Mori Mari, Powell Cynthia, Amrhein Timothy J, Rice Gillian I, Bailey Lauren, Strande Natasha, Weck Karen E, Evans James P, Berg Jonathan S, Kishnani Pri |
TREX1 variants in Sjogren's syndrome related lymphomagenesis. Cytokine 2019 Jul 154781. Nezos Adrianos, Makri Panagiota, Gandolfo Saviana, De Vita Salvatore, Voulgarelis Michael, Crow Mary K, Mavragani Clio |
Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature Review. Journal of clinical medicine 2019 5 8 (5): . Garau Jessica, Cavallera Vanessa, Valente Marialuisa, Tonduti Davide, Sproviero Daisy, Zucca Susanna, Battaglia Domenica, Battini Roberta, Bertini Enrico, Cappanera Silvia, Chiapparini Luisa, Crasà Camilla, Crichiutti Giovanni, Dalla Giustina Elvio, D'Arrigo Stefano, De Giorgis Valentina, De Simone Micaela, Galli Jessica, La Piana Roberta, Messana Tullio, Moroni Isabella, Nardocci Nardo, Panteghini Celeste, Parazzini Cecilia, Pichiecchio Anna, Pini Antonella, Ricci Federica, Saletti Veronica, Salvatici Elisabetta, Santorelli Filippo M, Sartori Stefano, Tinelli Francesca, Uggetti Carla, Veneselli Edvige, Zorzi Giovanna, Garavaglia Barbara, Fazzi Elisa, Orcesi Simona, Cereda Cristi |
SAMHD1-deficient fibroblasts from Aicardi-Goutières Syndrome patients can escape senescence and accumulate mutations. FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2020 1 34 (1): 631-647. Franzolin Elisa, Coletta Sara, Ferraro Paola, Pontarin Giovanna, D'Aronco Giulia, Stevanoni Martina, Palumbo Elisa, Cagnin Stefano, Bertoldi Loris, Feltrin Erika, Valle Giorgio, Russo Antonella, Bianchi Vera, Rampazzo Chia |
DNASE1L3 deficiency, new phenotypes, and evidence for a transient type I IFN signaling. Journal of clinical immunology 2022 6 42 (6): 1310-1320. Tusseau Maud, Lovšin Ema, Samaille Charlotte, Pescarmona Rémi, Mathieu Anne-Laure, Maggio Maria-Cristina, Selmanovi? Velma, Debeljak Marusa, Dachy Angelique, Novljan Gregor, Janin Alexandre, Januel Louis, Gibier Jean-Baptiste, Chopin Emilie, Rouvet Isabelle, Goncalves David, Fabien Nicole, Rice Gillian I, Lesca Gaétan, Labalme Audrey, Romagnani Paola, Walzer Thierry, Viel Sebastien, Perret Magali, Crow Yanick J, Av?in Tadej, Cimaz Rolando, Belot Alexand |
Whole-exome sequencing in 415,422 individuals identifies rare variants associated with mitochondrial DNA copy number.
HGG advances 2022 10 4 (1): 100147. Pillalamarri Vamsee, Shi Wen, Say Conrad, Yang Stephanie, Lane John, Guallar Eliseo, Pankratz Nathan, Arking Dan |
Clinical exome sequencing uncovers a high frequency of Mendelian disorders in infants with stroke: A retrospective analysis. American journal of medical genetics. Part A 2022 Sep . Kumar Runjun D, Meng Linyan, Liu Pengfei, Miyake Christina Y, Worley Kim C, Bi Weimin, Lalani Seema |
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- Page last updated:May 13, 2024
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