HuGE Literature Finder
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| Contribution of single-gene defects to congenital cardiac left-sided lesions in the prenatal setting. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2019 Oct . Sun Hairui, Yi Tong, Hao Xiaoyan, Yan He, Wang Jianbin, Li Qiong, Gu Xiaoyan, Zhou Xiaoxue, Wang Siyu, Wang Xin, Wan Peng, Han Lu, Chen Jian, Zhu Haogang, Zhang Hongjia, He Yih |
| Genetic variation across RNA metabolism and cell death gene networks is implicated in the semantic variant of primary progressive aphasia. Scientific reports 2019 Jul 9 (1): 10854. Bonham Luke W, Steele Natasha Z R, Karch Celeste M, Broce Iris, Geier Ethan G, Wen Natalie L, Momeni Parastoo, Hardy John, Miller Zachary A, Gorno-Tempini Maria Luisa, Hess Christopher P, Lewis Patrick, Miller Bruce L, Seeley William W, Manzoni Claudia, Desikan Rahul S, Baranzini Sergio E, Ferrari Raffaele, Yokoyama Jennifer S, |
| Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot. Circulation research 2019 Feb 124 (4): 553-563. Page Donna J, Miossec Matthieu J, Williams Simon G, Monaghan Richard M, Fotiou Elisavet, Cordell Heather J, Sutcliffe Louise, Topf Ana, Bourgey Mathieu, Bourque Guillaume, Eveleigh Robert, Dunwoodie Sally L, Winlaw David S, Bhattacharya Shoumo, Breckpot Jeroen, Devriendt Koenraad, Gewillig Marc, Brook J David, Setchfield Kerry J, Bu'Lock Frances A, O'Sullivan John, Stuart Graham, Bezzina Connie R, Mulder Barbara J M, Postma Alex V, Bentham James R, Baron Martin, Bhaskar Sanjeev S, Black Graeme C, Newman William G, Hentges Kathryn E, Lathrop G Mark, Santibanez-Koref Mauro, Keavney Bernard |
| Loss of function, missense, and intronic variants in NOTCH1 confer different risks for left ventricular outflow tract obstructive heart defects in two European cohorts. Genetic epidemiology 2019 03 43 (2): 215-226. Helle Emmi, Córdova-Palomera Aldo, Ojala Tiina, Saha Priyanka, Potiny Praneetha, Gustafsson Stefan, Ingelsson Erik, Bamshad Michael, Nickerson Deborah, Chong Jessica X, , Ashley Euan, Priest James |
| Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort. Human mutation 2018 Jun . Meester Josephina A N, Sukalo Maja, Schröder Kim C, Schanze Denny, Baynam Gareth, Borck Guntram, Bramswig Nuria C, Duman Duygu, Gilbert-Dussardier Brigitte, Holder-Espinasse Muriel, Itin Peter, Johnson Diana S, Joss Shelagh, Koillinen Hannele, McKenzie Fiona, Morton Jenny, Nelle Heike, Reardon Willie, Roll Claudia, Salih Mustafa A, Savarirayan Ravi, Scurr Ingrid, Splitt Miranda, Thompson Elizabeth, Titheradge Hannah, Travers Colm P, Van Maldergem Lionel, Whiteford Margo, Wieczorek Dagmar, Vandeweyer Geert, Trembath Richard, Van Laer Lut, Loeys Bart L, Zenker Martin, Southgate Laura, Wuyts W |
| Correlation Between Single-Nucleotide Polymorphisms Within miR-30a and Related Target Genes and Risk or Prognosis of Nephrotic Syndrome. DNA and cell biology 2018 Jan . Yang Ruiheng, Hong Hong, Wang Mengjun, Ma Zhongch |
| Bicuspid Aortic Valve: Role of Multiple Gene Variants in Influencing the Clinical Phenotype. BioMed research international 2018 2018 8386123. Sticchi Elena, De Cario Rosina, Magi Alberto, Giglio Sabrina, Provenzano Aldesia, Nistri Stefano, Pepe Guglielmina, Giusti Bet |
| Clinicopathological analysis of ATRX, DAXX and NOTCH receptor expression in angiosarcomas. Histopathology 2017 Aug . Panse Gauri, Chrisinger John S A, Leung Cheuk H, Ingram Davis R, Khan Samia, Wani Khalida, Lin Heather, Lazar Alexander J, Wang Wei-Li |
| Genetic Bases of Bicuspid Aortic Valve: The Contribution of Traditional and High-Throughput Sequencing Approaches on Research and Diagnosis. Frontiers in physiology 2017 8 612. Giusti Betti, Sticchi Elena, De Cario Rosina, Magi Alberto, Nistri Stefano, Pepe Guglielmi |
| Idiopathic hypereosinophilia is clonal disorder? Clonality identified by targeted sequencing. PloS one 2017 12 (10): e0185602. Lee Jee-Soo, Seo Heewon, Im Kyongok, Park Si Nae, Kim Sung-Min, Lee Eun Kyoung, Kim Jung-Ah, Lee Joon-Hee, Kwon Sunghoon, Kim Miyoung, Koh Insong, Hwang Seungwoo, Park Heung-Woo, Kang Hye-Ryun, Park Kyoung Soo, Kim Ju Han, Lee Dong So |
THBS2 Is a Candidate Modifier of Liver Disease Severity in Alagille Syndrome.
Cellular and molecular gastroenterology and hepatology 2016 Sep 2 (5): 663-675.e2. Tsai Ellen A, Gilbert Melissa A, Grochowski Christopher M, Underkoffler Lara A, Meng He, Zhang Xiaojie, Wang Michael M, Shitaye Hailu, Hankenson Kurt D, Piccoli David, Lin Henry, Kamath Binita M, Devoto Marcella, Spinner Nancy B, Loomes Kathleen |
| Targeted next-generation sequencing identifies a subset of idiopathic hypereosinophilic syndrome with features similar to chronic eosinophilic leukemia, not otherwise specified. Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 2016 May . Wang Sa A, Tam Wayne, Tsai Albert G, Arber Daniel A, Hasserjian Robert P, Geyer Julia T, George Tracy I, Czuchlewski David R, Foucar Kathryn, Rogers Heesun J, Hsi Eric D, Bryan Rea B, Bagg Adam, Dal Cin Paola, Zhao Chong, Kelley Todd W, Verstovsek Srdan, Bueso-Ramos Carlos, Orazi Attil |
| The morphology of CLL revisited: the clinical significance of prolymphocytes and correlations with prognostic/molecular markers in the LRF CLL4 trial. British journal of haematology 2016 May . Oscier David, Else Monica, Matutes Estella, Morilla Ricardo, Strefford Jonathan C, Catovsky Dani |
| The genetic landscape of paediatric de novo acute myeloid leukaemia as defined by single nucleotide polymorphism array and exon sequencing of 100 candidate genes. British journal of haematology 2016 Mar . Olsson Linda, Zettermark Sofia, Biloglav Andrea, Castor Anders, Behrendtz Mikael, Forestier Erik, Paulsson Kajsa, Johansson Bert |
| Targeted next generation sequencing approach identifies eighteen new candidate genes in normosmic hypogonadotropic hypogonadism and Kallmann syndrome. Molecular and cellular endocrinology 2016 12 437 86-96. Quaynor Samuel D, Bosley Maggie E, Duckworth Christina G, Porter Kelsey R, Kim Soo-Hyun, Kim Hyung-Goo, Chorich Lynn P, Sullivan Megan E, Choi Jeong-Hyeon, Cameron Richard S, Layman Lawrence |
| Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies. Circulation. Cardiovascular genetics 2015 Aug 8 (4): 572-81. Southgate Laura, Sukalo Maja, Karountzos Anastasios S V, Taylor Edward J, Collinson Claire S, Ruddy Deborah, Snape Katie M, Dallapiccola Bruno, Tolmie John L, Joss Shelagh, Brancati Francesco, Digilio Maria Cristina, Graul-Neumann Luitgard M, Salviati Leonardo, Coerdt Wiltrud, Jacquemin Emmanuel, Wuyts Wim, Zenker Martin, Machado Rajiv D, Trembath Richard |
| B-cell receptor configuration and mutational analysis of patients with chronic lymphocytic leukaemia and trisomy 12 reveal recurrent molecular abnormalities. Hematological oncology 2014 Mar 32 (1): 22-30. Falisi Erika, Novella Elisabetta, Visco Carlo, Guercini Nicola, Maura Francesco, Giaretta Ilaria, Pomponi Fabrizio, Nichele Ilaria, Finotto Silvia, Montaldi Annamaria, Neri Antonino, Rodeghiero Frances |
| Association between molecular lesions and specific B-cell receptor subsets in chronic lymphocytic leukemia. Blood 2013 Jun 121 (24): 4902-5. Rossi Davide, Spina Valeria, Bomben Riccardo, Rasi Silvia, Dal-Bo Michele, Bruscaggin Alessio, Rossi Francesca Maria, Monti Sara, Degan Massimo, Ciardullo Carmela, Serra Roberto, Zucchetto Antonella, Nomdedeu Josep, Bulian Pietro, Grossi Alberto, Zaja Francesco, Pozzato Gabriele, Laurenti Luca, Efremov Dimitar G, Di-Raimondo Francesco, Marasca Roberto, Forconi Francesco, Del Poeta Giovanni, Gaidano Gianluca, Gattei Valt |
| Variants in the NOTCH1 gene in patients with aortic coarctation. Congenital heart disease 0 9 (5): 391-6. Freylikhman Olga, Tatarinova Tatyana, Smolina Natalia, Zhuk Sergey, Klyushina Alexandra, Kiselev Artem, Moiseeva Olga, Sjoberg Gunnar, Malashicheva Anna, Kostareva An |
- Page last reviewed:Oct 1, 2021
- Page last updated:Jun 28, 2022
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