Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 77 Records) |
Query Trace: Abnormalities and SET[original query] |
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c-MET Overexpression as a Poor Predictor of MET Amplifications or Exon 14 Mutations in Lung Sarcomatoid Carcinomas. Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer 2018 8 13 (12): 1962-1967. Mignard Xavier, Ruppert Anne-Marie, Antoine Martine, Vasseur Julie, Girard Nicolas, Mazières Julien, Moro-Sibilot Denis, Fallet Vincent, Rabbe Nathalie, Thivolet-Bejui Françoise, Rouquette Isabelle, Lantuejoul Sylvie, Cortot Alexis, Saffroy Raphaël, Cadranel Jacques, Lemoine Antoinette, Wislez Mar |
Contributions of rare coding variants in hypotension syndrome genes to population blood pressure variation. Medicine 2018 Aug 97 (33): e11865. Nandakumar Priyanka, Morrison Alanna C, Grove Megan L, Boerwinkle Eric, Chakravarti Aravin |
Genetic variation in 117 myelination-related genes in schizophrenia: Replication of association to lipid biosynthesis genes. Scientific reports 2018 May 8 (1): 6915. Stokowy Tomasz, Polushina Tatiana, Sønderby Ida E, Karlsson Robert, Giddaluru Sudheer, Le Hellard Stephanie, Bergen Sarah E, Sullivan Patrick F, Andreassen Ole A, Djurovic Srdjan, Hultman Christina M, Steen Vidar |
Association between single nucleotide polymorphisms in estrogen receptor 1/2 genes and symptomatic severity of autism spectrum disorder. Research in developmental disabilities 2018 Mar . Doi Hirokazu, Fujisawa Takashi X, Iwanaga Ryoichiro, Matsuzaki Junko, Kawasaki Chisato, Tochigi Mamoru, Sasaki Tsukasa, Kato Nobumasa, Shinohara Kazuyu |
Thrombophilia-Associated Factors in Patients with Spontaneous Osteonecrosis of the Knee. Cartilage 2018 1 10 (1): 53-60. Marom Niv, Koch Jonathan Ej, Beer Yiftah, Ellis Martin, Ganot Gil, Nyska Meir, Maoz Guy, Hetsroni Ifta |
Associations between the components of metabolic syndrome and the polymorphisms in the peroxisome proliferator-activated receptor gamma (PPAR-?), the fat mass and obesity-associated (FTO), and the melanocortin-4 receptor (MC4R) genes. Aging 2018 Jan . Szkup Ma?gorzata, Owczarek Aleksander Jerzy, Schneider-Matyka Daria, Brodowski Jacek, ?ój Beata, Grochans El?bie |
Genetic Characterization and Prognostic Relevance of Acquired Uniparental Disomies in Cytogenetically Normal Acute Myeloid Leukemia. Clinical cancer research : an official journal of the American Association for Cancer Research 2019 8 25 (21): 6524-6531. Walker Christopher J, Kohlschmidt Jessica, Eisfeld Ann-Kathrin, Mrózek Krzysztof, Liyanarachchi Sandya, Song Chi, Nicolet Deedra, Blachly James S, Bill Marius, Papaioannou Dimitrios, Oakes Christopher C, Giacopelli Brian, Genutis Luke K, Maharry Sophia E, Orwick Shelley, Archer Kellie J, Powell Bayard L, Kolitz Jonathan E, Uy Geoffrey L, Wang Eunice S, Carroll Andrew J, Stone Richard M, Byrd John C, de la Chapelle Albert, Bloomfield Clara |
Circulating tumor DNA detection is correlated to histologic types in patients with early-stage non-small-cell lung cancer. Lung cancer (Amsterdam, Netherlands) 2019 7 134 108-116. Zhang Bin, Niu Xueliang, Zhang Qiang, Wang Chunli, Liu Bo, Yue Dongsheng, Li Chenguang, Giaccone Giuseppe, Li Shiyong, Gao Liuwei, Zhang Hua, Wang Jian, Yang Huanming, Wu Renhua, Ni Peixiang, Wang Changli, Ye Mingzhi, Liu Weir |
A parsimonious 3-gene signature predicts clinical outcomes in an acute myeloid leukemia multicohort study. Blood advances 2019 4 3 (8): 1330-1346. Wagner Sarah, Vadakekolathu Jayakumar, Tasian Sarah K, Altmann Heidi, Bornhäuser Martin, Pockley A Graham, Ball Graham R, Rutella Serg |
The clinical, histologic, and genotypic spectrum of SEPN1-related myopathy: A case series. Neurology 2020 8 95 (11): e1512-e1527. Villar-Quiles Rocio N, von der Hagen Maja, Métay Corinne, Gonzalez Victoria, Donkervoort Sandra, Bertini Enrico, Castiglioni Claudia, Chaigne Denys, Colomer Jaume, Cuadrado Maria Luz, de Visser Marianne, Desguerre Isabelle, Eymard Bruno, Goemans Nathalie, Kaindl Angela, Lagrue Emmanuelle, Lütschg Jürg, Malfatti Edoardo, Mayer Michèle, Merlini Luciano, Orlikowski David, Reuner Ulrike, Salih Mustafa A, Schlotter-Weigel Beate, Stoetter Mechthild, Straub Volker, Topaloglu Haluk, Urtizberea J Andoni, van der Kooi Anneke, Wilichowski Ekkehard, Romero Norma B, Fardeau Michel, Bönnemann Carsten G, Estournet Brigitte, Richard Pascale, Quijano-Roy Susana, Schara Ulrike, Ferreiro A |
Use of Multimodal Imaging and Clinical Biomarkers in Presymptomatic Carriers of C9orf72 Repeat Expansion. JAMA neurology 2020 5 77 (8): 1008-1017. De Vocht Joke, Blommaert Jeroen, Devrome Martijn, Radwan Ahmed, Van Weehaeghe Donatienne, De Schaepdryver Maxim, Ceccarini Jenny, Rezaei Ahmadreza, Schramm Georg, van Aalst June, Chiò Adriano, Pagani Marco, Stam Daphne, Van Esch Hilde, Lamaire Nikita, Verhaegen Marianne, Mertens Nathalie, Poesen Koen, van den Berg Leonard H, van Es Michael A, Vandenberghe Rik, Vandenbulcke Mathieu, Van den Stock Jan, Koole Michel, Dupont Patrick, Van Laere Koen, Van Damme Phil |
Evaluation of T cell cytokines and their role in recurrent miscarriage. International immunopharmacology 2020 3 82 106347. Ali Shafat, Majid Sabhiya, Niamat Ali Md, Taing Shahn |
Targeted next-generation sequencing identifies genomic abnormalities potentially driving the prognosis of early-stage invasive lobular breast carcinoma patients stratified according to a validated clinico-pathological model. Breast (Edinburgh, Scotland) 2020 2 50 56-63. Carbognin Luisa, Simbolo Michele, Caliò Anna, Vicentini Caterina, Delfino Pietro, Sperduti Isabella, Fassan Matteo, Schettini Francesco, Dieci Maria Vittoria, Griguolo Gaia, Pilotto Sara, Fiorio Elena, Arpino Grazia, Guarneri Valentina, De Placido Sabino, Conte Pierfranco, Manfrin Erminia, Brunelli Matteo, Scambia Giovanni, Scarpa Aldo, Tortora Giampaolo, Bria Emil |
A novel DNAH5 variant in a Tunisian patient with primary ciliary dyskinesia. Journal of genetics 2020 2 99 . Mani Rahma, Bouguila JihèNe, Ameur Salma Ben, Hachicha Mongia, Soua Zohra, Mabrouk Im |
An emerging spectrum of variants and clinical features in KCNMA1-linked channelopathy. Channels (Austin, Tex.) 2021 7 15 (1): 447-464. Miller Jacob P, Moldenhauer Hans J, Keros Sotirios, Meredith Andrea |
The landscape of gene co-expression modules correlating with prognostic genetic abnormalities in AML. Journal of translational medicine 2021 5 19 (1): 228. Guo Chao, Gao Ya-Yue, Ju Qian-Qian, Zhang Chun-Xia, Gong Ming, Li Zhen-Li |
[Clinical and genetic analysis of a child with 2q37 deletion syndrome resulting from a translocation involving chromosome satellite]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2021 4 38 (4): 373-375. Zhang Zhenhua, Zhao Shaoli, Song Jijun, Li Rui, Zhang Yaodong, Li Dongxi |
Novel ultra-rare exonic variants identified in a founder population implicate cadherins in schizophrenia. Neuron 2021 3 109 (9): 1465-1478.e4. Lencz Todd, Yu Jin, Khan Raiyan Rashid, Flaherty Erin, Carmi Shai, Lam Max, Ben-Avraham Danny, Barzilai Nir, Bressman Susan, Darvasi Ariel, Cho Judy H, Clark Lorraine N, Gümü? Zeynep H, Vijai Joseph, Klein Robert J, Lipkin Steven, Offit Kenneth, Ostrer Harry, Ozelius Laurie J, Peter Inga, Malhotra Anil K, Maniatis Tom, Atzmon Gil, Pe'er Its |
Real-life experience with CPX-351 and impact on the outcome of high-risk AML patients: a multicentric French cohort. Blood advances 2021 Jan 5 (1): 176-184. Chiche Edmond, Rahmé Ramy, Bertoli Sarah, Dumas Pierre-Yves, Micol Jean-Baptiste, Hicheri Yosr, Pasquier Florence, Peterlin Pierre, Chevallier Patrice, Thomas Xavier, Loschi Michael, Genthon Alexis, Legrand Ollivier, Mohty Mohamad, Raffoux Emmanuel, Auberger Patrick, Caulier Alexis, Joris Magalie, Bonmati Caroline, Roth-Guepin Gabrielle, Lejeune Caroline, Pigneux Arnaud, Vey Norbert, Recher Christian, Ades Lionel, Cluzeau Thom |
Loeys-Dietz and Shprintzen-Goldberg syndromes: analysis of TGF-?-opathies with craniofacial manifestations using an innovative multimodality method. Journal of medical genetics 2021 12 59 (10): 938-946. Almpani Konstantinia, Liberton Denise K, Jani Priyam, Keyvanfar Cyrus, Mishra Rashmi, Curry Natasha, Orzechowski Pamela, Frischmeyer-Guerrerio Pamela A, Lee Janice |
Deciphering genes associated with diffuse large B-cell lymphoma with lymphomatous effusions: A mutational accumulation scoring approach. Biomarker research 2021 10 9 (1): 74. Abdollahi Sina, Dehghanian Seyedeh Zahra, Hung Liang-Yi, Yang Shiang-Jie, Chen Dao-Peng, Medeiros L Jeffrey, Chiang Jung-Hsien, Chang Kung-Ch |
Association and epistatic analysis of white matter related genes across the continuum schizophrenia and autism spectrum disorders: The joint effect of NRG1-ErbB genes. The world journal of biological psychiatry : the official journal of the World Federation of Societies of Biological Psychiatry 2021 Aug 1-11. Prats C, Fatjó-Vilas M, Penzol M J, Kebir O, Pina-Camacho L, Demontis D, Crespo-Facorro B, Peralta V, González-Pinto A, Pomarol-Clotet E, Papiol S, Parellada M, Krebs M O, Fañanás |
Identification of novel susceptibility genes for non-syndromic cleft lip with or without cleft palate using NGS-based multigene panel testing. Molecular genetics and genomics : MGG 2022 Jul . D?browska Justyna, Biedziak Barbara, Szponar-?urowska Anna, Budner Margareta, Jagodzi?ski Pawe? P, P?oski Rafa?, Mostowska Adrian |
Deciphering the Increased Prevalence of TP53 Mutations in Metastatic Prostate Cancer. Cancer informatics 2022 4 21 11769351221087046. Zhang Wensheng, Dong Yan, Sartor Oliver, Zhang K |
Phenotypic and genotypic correlation evaluation of 148 pediatric patients with Fanconi anemia in a Chinese rare disease cohort. Clinica chimica acta; international journal of clinical chemistry 2022 12 539 41-49. Chang Lixian, Zhang Li, An Wenbin, Wan Yang, Cai Yuli, Lan Yang, Zhang Aoli, Liu Lipeng, Ruan Min, Liu Xiaoming, Guo Ye, Yang Wenyu, Chen Xiaojuan, Chen Yumei, Wang Shuchun, Zou Yao, Yuan Weiping, Zhu Xiaof |
Genome-wide analysis of copy number variants and normal facial variation in a large cohort of Bantu Africans. HGG advances 2022 Jan 3 (1): 100082. Null Megan, Yilmaz Feyza, Astling David, Yu Hung-Chun, Cole Joanne B, Hallgrímsson Benedikt, Santorico Stephanie A, Spritz Richard A, Shaikh Tamim H, Hendricks Audrey |
Genome-wide association study of metabolic dysfunction-associated fatty liver disease in a Korean population. Scientific reports 2024 4 14 (1): 9753. Young Lee, Eun Ju Cho, Eun Kyung Choe, Min-Sun Kwak, Jong In Yang, Seung-Won Oh, Jeong Yoon Yim, Goh Eun Chu |
A nomogram based on clinical features and molecular abnormalities for predicting the prognosis of patients with acute myeloid leukemia. Translational cancer research 2024 1 12 (12): 3432-3442. Yuancheng Guo, Yujie Niu, Haiping Liang, Xiaoxiao Yang, Jinli Jian, Xiao Tang, Bei L |
First report on chromosomal abnormalities in Eastern Morocco: Identification of a new case of a de novo partial trisomy 13q using single-nucleotide polymorphism array. Archives de pediatrie : organe officiel de la Societe francaise de pediatrie 2024 1 . Manal Elidrissi Errahhali, Mounia Elidrissi Errahhali, Sara Ramdani, Saida Lhousni, Noufissa Benajiba, Maria Rkain, Abdeladim Babakhouya, Aziza Elouali, Ayad Ghanam, Rim Amrani, Sahar Messaoudi, Anass Ayyad, Bouchra Oneib, Ahmed Mimouni, Hanane Saadi, Sanae Allaoui, Meryem Ouarzane, Agnès Guichet, Majida Charif, Redouane Boulouiz, Mohammed Bellao |
Identification of circulating autoantibodies to non-modified proteins associated with ACPA status in early rheumatoid arthritis. Rheumatology (Oxford, England) 2024 1 . Lucía Lourido, Vijay Joshua, Monika Hansson, Ronald Sjöberg, Elisa Pin, Cristina Ruiz-Romero, Peter Nilsson, Lars Alfredsson, Lars Klareskog, Francisco J Blan |
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- Page last updated:May 06, 2024
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