Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 45 Records) |
Query Trace: Syndrome and FAS[original query] |
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Genetic and immune predictors for hypersensitivity syndrome to antiepileptic drugs. Translational research : the journal of laboratory and clinical medicine 2012 May 159 (5): 397-406. Neuman Manuela G, Cohen Lawrence, Nanau Radu M, Hwang Paul |
The -346T polymorphism of the SH2D1A gene is a risk factor for development of autoimmunity/lymphoproliferation in males with defective Fas function. Human immunology 2012 May 73 (5): 585-92. Boggio Elena, Melensi Matteo, Bocca Sara, Chiocchetti Annalisa, Comi Cristoforo, Clemente Nausicaa, Orilieri Elisabetta, Soluri Maria Felicia, D'Alfonso Sandra, Mechelli Rosella, Gentile Giovanna, Poggi Alessandro, Salvetti Marco, Ramenghi Ugo, Dianzani Umber |
Associations between the FAS -670 A/G and -1,377 G/A polymorphisms and susceptibility to autoimmune rheumatic diseases: a meta-analysis. Molecular biology reports 2012 Dec 39 (12): 10671-9. Lee Young Ho, Bae Sang-Cheol, Choi Sung Jae, Ji Jong Dae, Song Gwan G |
Sequential decisions on FAS sequencing guided by biomarkers in patients with lymphoproliferation and autoimmune cytopenia. Haematologica 2013 Dec 98 (12): 1948-55. Rensing-Ehl Anne, Janda Ales, Lorenz Myriam R, Gladstone Beryl P, Fuchs Ilka, Abinun Mario, Albert Michael, Butler Karina, Cant Andrew, Cseh Anna-Maria, Ebinger Martin, Goldacker Sigune, Hambleton Sophie, Hebart Holger, Houet Leonora, Kentouche Karim, Kühnle Ingrid, Lehmberg Kai, Mejstrikova Ester, Niemeyer Charlotte, Minkov Milen, Neth Olaf, Dückers Gregor, Owens Stephan, Rösler Joachim, Schilling Freimut H, Schuster Volker, Seidel Markus G, Smisek Petr, Sukova Martina, Svec Peter, Wiesel Thomas, Gathmann Benjamin, Schwarz Klaus, Vach Werner, Ehl Stephan, Speckmann Carst |
Variations of the UNC13D gene in patients with autoimmune lymphoproliferative syndrome. PloS one 2013 8 (7): e68045. Aricò Maurizio, Boggio Elena, Cetica Valentina, Melensi Matteo, Orilieri Elisabetta, Clemente Nausicaa, Cappellano Giuseppe, Buttini Sara, Soluri Maria Felicia, Comi Cristoforo, Dufour Carlo, Pende Daniela, Dianzani Irma, Ellis Steven R, Pagliano Sara, Marcenaro Stefania, Ramenghi Ugo, Chiocchetti Annalisa, Dianzani Umber |
FAS -670A>G promoter polymorphism is associated with soluble Fas levels in primary Sjögren's syndrome. Genetics and molecular research : GMR 2014 13 (3): 4831-8. Treviño-Talavera B A, Palafox-Sánchez C A, Muñoz-Valle J F, Orozco-Barocio G, Navarro-Hernández R E, Vázquez-Del Mercado M, García de la Torre I, Oregon-Romero |
Association of ABCB1, CYP3A4, EPHX1, FAS, SCN1A, MICA, and BAG6 polymorphisms with the risk of carbamazepine-induced Stevens-Johnson syndrome/toxic epidermal necrolysis in Chinese Han patients with epilepsy. Epilepsia 2014 Aug 55 (8): 1301-6. He Xiao-Jing, Jian Ling-Yan, He Xiao-Lin, Tang Man, Wu Yan, Xu Yuan-Yuan, Sun Xiao-Jie, Zhao Li-M |
FAS Gene Copy Numbers are Associated with Susceptibility to Behçet Disease and VKH Syndrome in Han Chinese. Human mutation 2015 Jul . Yu Hongsong, Luo Le, Wu Lili, Zheng Minming, Zhang Lijun, Liu Yunjia, Li Hua, Cao Qingfeng, Kijlstra Aize, Yang Peize |
Associations between single nucleotide polymorphisms in the FAS pathway and acute kidney injury. Critical care (London, England) 2015 19 368. Bhatraju Pavan, Hsu Christine, Mukherjee Paramita, Glavan Bradford J, Burt Amber, Mikacenic Carmen, Himmelfarb Jonathan, Wurfel Ma |
High Frequency of GBA Gene Mutations in Dementia With Lewy Bodies Among Ashkenazi Jews. JAMA neurology 2016 Oct . Shiner Tamara, Mirelman Anat, Gana Weisz Mali, Bar-Shira Anat, Ash Elissa, Cialic Ron, Nevler Naomi, Gurevich Tanya, Bregman Noa, Orr-Urtreger Avi, Giladi N |
Genetic predisposition to fetal alcohol syndrome: association with congenital disorders of N-glycosylation. Pediatric research 2018 01 83 (1-1): 119-127. de la Morena-Barrio María E, Ballesta-Martínez María J, López-Gálvez Raquel, Antón Ana I, López-González Vanessa, Martínez-Ribot Laia, Padilla José, Miñano Antonia, García-Algar Oscar, Del Campo Miguel, Corral Javier, Guillén-Navarro Encarna, Vicente Vicen |
Discovery and fine-mapping of loci associated with MUFAs through trans-ethnic meta-analysis in Chinese and European populations.
![]() Journal of lipid research 2017 May 58 (5): 974-981. Hu Yao, Tanaka Toshiko, Zhu Jingwen, Guan Weihua, Wu Jason H Y, Psaty Bruce M, McKnight Barbara, King Irena B, Sun Qi, Richard Melissa, Manichaikul Ani, Frazier-Wood Alexis C, Kabagambe Edmond K, Hopkins Paul N, Ordovas Jose M, Ferrucci Luigi, Bandinelli Stefania, Arnett Donna K, Chen Yii-Der I, Liang Shuang, Siscovick David S, Tsai Michael Y, Rich Stephen S, Fornage Myriam, Hu Frank B, Rimm Eric B, Jensen Majken K, Lemaitre Rozenn N, Mozaffarian Dariush, Steffen Lyn M, Morris Andrew P, Li Huaixing, Lin |
FAS A-670G and Fas ligand IVS2nt A 124G polymorphisms are significantly increased in women with pre-eclampsia and may contribute to HELLP syndrome: a case-controlled study. BJOG : an international journal of obstetrics and gynaecology 2018 Aug . Raguema N, Zitouni H, Ben Ali Gannoun M, Benletaifa D, Almawi W Y, Mahjoub T, Lavoie J |
Modulation of Apoptosis by Cytotoxic Mediators and Cell-Survival Molecules in Sjögren's Syndrome. International journal of molecular sciences 2018 8 19 (8): . Nakamura Hideki, Horai Yoshiro, Shimizu Toshimasa, Kawakami Atsus |
FAS promoter polymorphisms and serum sFas level are associated with increased risk of nerve damage in Bangladeshi patients with Guillain-Barré syndrome. PloS one 2018 13 (2): e0192703. Islam Zhahirul, Jahan Israt, Ahammad Rijwan U, Shahnaij Mohammad, Nahar Shamsun, Mohammad Quazi |
Reductions in Corpus Callosum Volume Partially Mediate Effects of Prenatal Alcohol Exposure on IQ. Frontiers in neuroanatomy 2018 1 11 132. Biffen Stevie C, Warton Christopher M R, Lindinger Nadine M, Randall Steven R, Lewis Catherine E, Molteno Christopher D, Jacobson Joseph L, Jacobson Sandra W, Meintjes Ernesta |
Pediatric-onset Evans syndrome: Heterogeneous presentation and high frequency of monogenic disorders including LRBA and CTLA4 mutations. Clinical immunology (Orlando, Fla.) 2018 1 188 52-57. Besnard Caroline, Levy Eva, Aladjidi Nathalie, Stolzenberg Marie-Claude, Magerus-Chatinet Aude, Alibeu Olivier, Nitschke Patrick, Blanche Stéphane, Hermine Olivier, Jeziorski Eric, Landman-Parker Judith, Leverger Guy, Mahlaoui Nizar, Michel Gérard, Pellier Isabelle, Suarez Felipe, Thuret Isabelle, de Saint-Basile Geneviève, Picard Capucine, Fischer Alain, Neven Bénédicte, Rieux-Laucat Frédéric, Quartier Pierre, |
Prenatal alcohol exposure and facial morphology in a UK cohort. Drug and alcohol dependence 2019 2 197 42-47. Howe Laurence J, Sharp Gemma C, Hemani Gibran, Zuccolo Luisa, Richmond Stephen, Lewis Sarah |
Metabolic syndrome in postmenopausal women is associated with lower erythrocyte PUFA/MUFA and n-3/n-6 ratio: A case-control study. Prostaglandins, leukotrienes, and essential fatty acids 2020 Jun 159 102155. Muzsik Agata, Jele? Henryk H, Chmurzynska Aga |
Autoimmune Lymphoproliferative Syndrome in Children with Nonmalignant Organomegaly, Chronic Immune Cytopenia, and Newly Diagnosed Lymphoma. Turkish journal of haematology : official journal of Turkish Society of Haematology 2020 12 38 (2): 145-150. Kaya Zühre, I??k Melek, Oruklu Nihan, Kirkiz Serap, Ba?r?aç?k Emin Ümit, Allende Luis M., Díaz-Madroñero María J., Ruiz-García Raquel, P?narl? Faruk Güçlü, Göçün Uyar P?nar, Koçak Ülk |
Genetic polymorphisms associated with polycystic ovary syndrome among Iranian women. International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics 2020 Dec . Jamshidi Mohammad, Mohammadi Pour Somayeh, Bahadoram Mohammad, Mahmoudian-Sani Mohammad-Reza, Saeedi Boroujeni A |
Clinical, immunological, and genetic features in 780 patients with autoimmune lymphoproliferative syndrome (ALPS) and ALPS-like diseases: A systematic review. Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology 2021 5 32 (7): 1519-1532. Hafezi Nasim, Zaki-Dizaji Majid, Nirouei Matineh, Asadi Gelayol, Sharifinejad Niusha, Jamee Mahnaz, Erfan Rasouli Seyed, Hamedifar Haleh, Sabzevari Araz, Chavoshzadeh Zahra, Yazdani Reza, Abolhassani Hassan, Aghamohammadi Asghar, Azizi Gholamre |
Next Generation Sequencing for Detecting Somatic FAS Mutations in Patients With Autoimmune Lymphoproliferative Syndrome. Frontiers in immunology 2021 5 12 656356. López-Nevado Marta, Docampo-Cordeiro Jorge, Ramos José T, Rodríguez-Pena Rebeca, Gil-López Celia, Sánchez-Ramón Silvia, Gil-Herrera Juana, Díaz-Madroñero María J, Delgado-Martín María A, Morales-Pérez Pablo, Paz-Artal Estela, Magerus Aude, Rieux-Laucat Frederic, Allende Luis |
Case Report: A Novel Pathogenic Missense Mutation in FAS: A Multi-Generational Case Series of Autoimmune Lymphoproliferative Syndrome. Frontiers in pediatrics 2021 4 9 624116. Gaefke Claudia L, Metts Jonathan, Imanirad Donya, Nieves Daime, Terranova Paola, Dell'Orso Gianluca, Gambineri Eleonora, Miano Maurizio, Lockey Richard F, Walter Jolan Eszter, Westermann-Clark Em |
Influence of cytochrome P450 2D6 polymorphism on hippocampal white matter and treatment response in schizophrenia. NPJ schizophrenia 2021 Jan 7 (1): 5. Shin Wonsuk, Bang Minji, Kim Anhye, Cho Doo-Yeoun, Lee Sang-Hy |
Case report: Neonatal autoimmune lymphoproliferative syndrome with a novel pathogenic homozygous FAS variant effectively treated with sirolimus. Frontiers in pediatrics 2023 5 11 1150179. Fawzia M Elgharbawy, Mohammed Yousuf Karim, Dina Sameh Soliman, Amel Siddik Hassan, Anoop Sudarsanan, Ashraf G |
Abnormal biomarkers predict complex FAS or FADD defects missed by exome sequencing. The Journal of allergy and clinical immunology 2023 11 . Anne Rensing-Ehl, Myriam Ricarda Lorenz, Marita Führer, Wolfgang Willenbacher, Ella Willenbacher, Sieghart Sopper, Mario Abinun, Maria Elena Maccari, Christoph König, Pauline Haegele, Sebastian Fuchs, Carla Castro, Patrick Kury, Olivier Pelle, Christian Klemann, Maximilian Heeg, Julian Thalhammer, Oliver Wegehaupt, Marco Fischer, Sigune Goldacker, Björn Schulte, Saskia Biskup, Philippe Chatelain, Volker Schuster, Klaus Warnatz, Bodo Grimbacher, Andrea Meinhardt, Dirk Holzinger, Prasad Thomas Oommen, Tanja Hinze, Holger Hebart, Karlheinz Seeger, Kai Lehmberg, Timothy Ronan Leahy, Alexander Claviez, Simon Vieth, Freimut H Schilling, Ilka Fuchs, Miriam Groß, Frederic Rieux-Laucat, Aude Magerus, Carsten Speckmann, Klaus Schwarz, Stephan Ehl, |
Revisiting autoimmune lymphoproliferative syndrome caused by Fas ligand mutations. The Journal of allergy and clinical immunology 2023 1 . Maccari Maria Elena, Schneider Pascal, Smulski Cristian Roberto, Meinhardt Andrea, Pinto Fernando, Gonzalez-Granado Luis Ignacio, Schuetz Catharina, Sica Mauricio Pablo, Gross Miriam, Fuchs Ilka, Kury Patrick, Heeg Maximilian, Vocat Tatjana, Willen Laure, Thomas Caroline, Hühn Regina, Magerus Aude, Lorenz Myriam, Schwarz Klaus, Rieux-Laucat Frederic, Ehl Stephan, Rensing-Ehl An |
Analysis of alcohol-metabolizing enzymes genetic variants and RAR/RXR expression in patients diagnosed with fetal alcohol syndrome: a case-control study. BMC genomics 2024 6 25 (1): 610. Melina Vieiros, Elisabet Navarro-Tapia, Anna Ramos-Triguero, Àgueda García-Meseguer, Leopoldo Martínez, Óscar García-Algar, Vicente Andreu-Fernánd |
Study of the potential role of CASPASE-10 mutations in the development of autoimmune lymphoproliferative syndrome. Cell death & disease 2024 5 15 (5): 315. Filippo Consonni, Solange Moreno, Blanca Vinuales Colell, Marie-Claude Stolzenberg, Alicia Fernandes, Mélanie Parisot, Cécile Masson, Nathalie Neveux, Jérémie Rosain, Sarah Bamberger, Marie-Gabrielle Vigue, Marion Malphettes, Pierre Quartier, Capucine Picard, Frédéric Rieux-Laucat, Aude Mager |
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