HuGE Literature Finder
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| Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates. Orphanet journal of rare diseases 2022 Feb 17 (1): 66. Huang Xinwen, Wu Dingwen, Zhu Lin, Wang Wenjun, Yang Rulai, Yang Jianbin, He Qunyan, Zhu Bingquan, You Ying, Xiao Rui, Zhao Zhengy |
| Two progressed malignant phyllodes tumors of the breast harbor alterations in genes frequently involved in other advanced cancers. Orphanet journal of rare diseases 2021 Aug 16 (1): 363. Reinisch Mattea, Kuemmel Sherko, Breit Elisabeth, Theuerkauf Ingo, Harrach Hakima, Schindowski Dorothea, Moka Detlef, Bettstetter Marcus, Bruzas Simona, Chiari Ouaf |
| Rare manifestations and malignancies in tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increAse disease awareness (TOSCA). Orphanet journal of rare diseases 2021 Jul 16 (1): 301. Sauter Matthias, Belousova Elena, Benedik Mirjana P, Carter Tom, Cottin Vincent, Curatolo Paolo, Dahlin Maria, D'Amato Lisa, d'Augères Guillaume B, de Vries Petrus J, Ferreira José C, Feucht Martha, Fladrowski Carla, Hertzberg Christoph, Jozwiak Sergiusz, Lawson John A, Macaya Alfons, Marques Ruben, Nabbout Rima, O'Callaghan Finbar, Qin Jiong, Sander Valentin, Shah Seema, Takahashi Yukitoshi, Touraine Renaud, Youroukos Sotiris, Zonnenberg Bernard, Jansen Anna, Kingswood J Chris, |
Identification of two novel bullous pemphigoid- associated alleles, HLA-DQA1*05:05 and -DRB1*07:01, in Germans.
Orphanet journal of rare diseases 2021 May 16 (1): 228. Schwarm Christian, Gola Damian, Holtsche Maike M, Dieterich Anabelle, Bhandari Anita, Freitag Miriam, Nürnberg Peter, Toliat Mohammad, Lieb Wolfgang, Wittig Michael, Franke André, Worm Margitta, Sticherling Michael, Ehrchen Jan, Günther Claudia, Gläser Regine, Peitsch Wiebke K, Sárdy Miklós, Eming Rüdiger, Hertl Michael, Benoit Sandrine, Goebeler Matthias, Pföhler Claudia, Kunz Manfred, Kreuter Alexander, van Beek Nina, Erdmann Jeanette, Busch Hauke, Zillikens Detlef, Sadik Christian D, Hirose Misa, König Inke R, Schmidt Enno, Ibrahim Saleh M, |
| Rare variant analysis of 4241 pulmonary arterial hypertension cases from an international consortium implicates FBLN2, PDGFD, and rare de novo variants in PAH. Genome medicine 2021 May 13 (1): 80. Zhu Na, Swietlik Emilia M, Welch Carrie L, Pauciulo Michael W, Hagen Jacob J, Zhou Xueya, Guo Yicheng, Karten Johannes, Pandya Divya, Tilly Tobias, Lutz Katie A, Martin Jennifer M, Treacy Carmen M, Rosenzweig Erika B, Krishnan Usha, Coleman Anna W, Gonzaga-Juaregui Claudia, Lawrie Allan, Trembath Richard C, Wilkins Martin R, , , , , Morrell Nicholas W, Shen Yufeng, Gräf Stefan, Nichols William C, Chung Wendy |
| The impact of rare and low-frequency genetic variants in common variable immunodeficiency (CVID). Scientific reports 2021 Apr 11 (1): 8308. Bisgin Atil, Sonmezler Ozge, Boga Ibrahim, Yilmaz Musta |
| A rare mutation c.1663G?>?A (p.A555T) in the MMUT gene associated with mild clinical and biochemical phenotypes of methylmalonic acidemia in 30 Chinese patients. Orphanet journal of rare diseases 2021 Jan 16 (1): 22. Liang Lili, Shuai Ruixue, Yu Yue, Qiu Wenjuan, Shen Linghua, Wu Shengnan, Wei Haiyan, Chen Yongxing, Yang Chiju, Xu Peng, Chen Xigui, Zou Hui, Feng Jizhen, Niu Tingting, Hu Haili, Ye Jun, Zhang Huiwen, Lu Deyun, Gong Zhuwen, Zhan Xia, Ji Wenjun, Yu Yongguo, Gu Xuefan, Han Lians |
| Correlation of genotype and phenotype in 32 patients with hereditary hemochromatosis in China. Orphanet journal of rare diseases 2021 09 16 (1): 398. Wu Liyan, Zhang Wei, Li Yanmeng, Zhou Donghu, Zhang Bei, Xu Anjian, Wu Zhen, Wu Lina, Li Shuxiang, Wang Xiaoming, Zhao Xinyan, Wang Qianyi, Li Min, Wang Yu, You Hong, Huang Jian, Ou Xiaojuan, Jia Jido |
| Novel gene variants in Polish patients with Leber congenital amaurosis (LCA). Orphanet journal of rare diseases 2020 Dec 15 (1): 345. Skorczyk-Werner Anna, Niedziela Zuzanna, Stopa Marcin, Krawczynski Maciej Robe |
| Optimising the mutation screening strategy in Marfan syndrome and identifying genotypes with more severe aortic involvement. Orphanet journal of rare diseases 2020 Oct 15 (1): 290. Stengl Roland, Bors András, Ágg Bence, Pólos Miklós, Matyas Gabor, Molnár Mária Judit, Fekete Bálint, Csabán Dóra, Andrikovics Hajnalka, Merkely Béla, Radovits Tamás, Szabolcs Zoltán, Benke Kálm |
| Phenotypic and genetic spectrum of isolated macrodactyly: somatic mosaicism of PIK3CA and AKT1 oncogenic variants. Orphanet journal of rare diseases 2020 Oct 15 (1): 288. Tian Wen, Huang Yingzhao, Sun Liying, Guo Yang, Zhao Sen, Lin Mao, Dong Xiying, Zhong Wenyao, Yin Yuehan, Chen Zefu, Zhang Nan, Zhang Yuanqiang, Wang Lianlei, Lin Jiachen, Yan Zihui, Yang Xinzhuang, Zhao Junhui, Qiu Guixing, Zhang Jianguo, Wu Zhihong, Wu Nan, |
| Variable phenotypes and outcomes associated with the MMACHC c.609G>A homologous mutation: long term follow-up in a large cohort of cases. Orphanet journal of rare diseases 2020 Aug 15 (1): 200. He Ruxuan, Mo Ruo, Shen Ming, Kang Lulu, Song Jinqing, Liu Yi, Chen Zhehui, Zhang Hongwu, Yao Hongxin, Liu Yupeng, Zhang Yao, Dong Hui, Jin Ying, Li Mengqiu, Qin Jiong, Zheng Hong, Chen Yongxing, Li Dongxiao, Wei Haiyan, Li Xiyuan, Zhang Huifeng, Huang Min, Zhang Chunyan, Jiang Yuwu, Liang Desheng, Tian Yaping, Yang Yanli |
| Replication study of four keloid-associated polymorphisms in patients of European descent - a single centre study. Intractable & rare diseases research 2020 Feb 9 (1): 40-42. Dmytrzak Andrzej, Boron Agnieszka, Loniewska Beata, Clark Jeremy S C, Kaczmarczyk Mariusz, Ciechanowicz Andrz |
| Immunological features of patients affected by Barraquer-Simons syndrome. Orphanet journal of rare diseases 2020 Jan 15 (1): 9. Corvillo Fernando, Ceccarini Giovanni, Nozal Pilar, Magno Silvia, Pelosini Caterina, Garrido Sofía, López-Lera Alberto, Moraru Manuela, Vilches Carlos, Fornaciari Silvia, Gabbriellini Sabrina, Santini Ferruccio, Araújo-Vilar David, López-Trascasa Margari |
| Molecular epidemiology of Chinese Han deaf patients with bi-allelic and mono-allelic GJB2 mutations. Orphanet journal of rare diseases 2020 Jan 15 (1): 29. Yu Xiaoyu, Lin Yun, Xu Jun, Che Tuanjie, Li Lin, Yang Tao, Wu H |
| TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy. European journal of human genetics : EJHG 2020 Jan . Spitali Pietro, Zaharieva Irina, Bohringer Stefan, Hiller Monika, Chaouch Amina, Roos Andreas, Scotton Chiara, Claustres Mireille, Bello Luca, McDonald Craig M, Hoffman Eric P, , Koeks Zaida, Eka Suchiman H, Cirak Sebahattin, Scoto Mariacristina, Reza Mojgan, 't Hoen Peter A C, Niks Erik H, Tuffery-Giraud Sylvie, Lochmüller Hanns, Ferlini Alessandra, Muntoni Francesco, Aartsma-Rus Annemie |
| Value of muscle magnetic resonance imaging in the differential diagnosis of muscular dystrophies related to the dystrophin-glycoprotein complex. Orphanet journal of rare diseases 2019 Nov 14 (1): 250. Xie Zhiying, Xie Zhihao, Yu Meng, Zheng Yiming, Sun Chengyue, Liu Yilin, Ling Chen, Zhu Ying, Zhang Wei, Xiao Jiangxi, Wang Zhaoxia, Yuan Y |
| Urea cycle disorders in Argentine patients: clinical presentation, biochemical and genetic findings. Orphanet journal of rare diseases 2019 Aug 14 (1): 203. Silvera-Ruiz Silene M, Arranz José A, Häberle Johannes, Angaroni Celia J, Bezard Miriam, Guelbert Norberto, Becerra Adriana, Peralta Fernanda, de Kremer Raquel Dodelson, Laróvere Laura |
| Novel genotypes and phenotypes among Chinese patients with Floating-Harbor syndrome. Orphanet journal of rare diseases 2019 Jun 14 (1): 144. Zhang Shujie, Chen Shaoke, Qin Haisong, Yuan Haiming, Pi Yalei, Yang Yu, Huang Hui, Li Guimei, Sun Yan, Wang Zhihua, Ma Huamei, Fu Xiaoling, Zhou Ting, Wang Jian, Zhang Huifeng, Shen Yipi |
| GenePy - a score for estimating gene pathogenicity in individuals using next-generation sequencing data. BMC bioinformatics 2019 May 20 (1): 254. Mossotto E, Ashton J J, O'Gorman L, Pengelly R J, Beattie R M, MacArthur B D, Ennis |
| Leber's hereditary optic neuropathy: Severe vascular pathology in a severe primary mutation. Intractable & rare diseases research 2019 Feb 8 (1): 52-55. Asanad Samuel, Meer Elana, Tian Jack J, Fantini Michele, Nassisi Marco, Sadun Alfredo |
| MTHFR promoter hypermethylation may lead to congenital heart defects in Down syndrome. Intractable & rare diseases research 2017 Nov 6 (4): 295-298. Asim Ambreen, Agarwal Sarita, Panigrahi Inusha, Saiyed Nazia, Bakshi Son |
| GCH1 mutations are common in Serbian patients with dystonia-parkinsonism: Challenging previously reported prevalence rates of DOPA-responsive dystonia. Parkinsonism & related disorders 2017 Sep . Dobri?i? Valerija, Tomi? Aleksandra, Brankovi? Vesna, Kresojevi? Nikola, Jankovi? Milena, Westenberger Ana, Raši? Vedrana Mili?, Klein Christine, Novakovi? Ivana, Svetel Marina, Kosti? Vladimir |
| What can the CF registry tell us about rare CFTR-mutations? A Belgian study. Orphanet journal of rare diseases 2017 Aug 12 (1): 142. De Wachter E, Thomas M, Wanyama S S, Seneca S, Malfroot |
| Glucocorticoid receptor gene polymorphisms in hereditary angioedema with C1-inhibitor deficiency. Orphanet journal of rare diseases 2017 01 12 (1): 5. Zotter Zsuzsanna, Nagy Zsolt, Patócs Attila, Csuka Dorottya, Veszeli Nóra, Kohalmi Kinga Viktória, Farkas Henriet |
| Familial vs. sporadic sarcoidosis: BTNL2 polymorphisms, clinical presentations, and outcomes in a French cohort. Orphanet journal of rare diseases 2016 Dec 11 (1): 165. Pacheco Yves, Calender Alain, Israël-Biet Dominique, Roy Pascal, Lebecque Serge, Cottin Vincent, Bouvry Diane, Nunes Hilario, Sève Pascal, Pérard Laurent, Devouassoux Gilles, Freymond Nathalie, Khouatra Chahira, Wallaert Benoît, Lamy Raphaelle, Elsensohn Mad-Hélénie, Bardel Claire, Valeyre Dominique, |
| Genetic variation: ExAC boosts clinical variant interpretation in rare diseases. Nature reviews. Genetics 2016 Sep 17 (10): 584. Bahcall Orli |
| Ataxia, dystonia and myoclonus in adult patients with Niemann-Pick type C. Orphanet journal of rare diseases 2016 11 (1): 121. Koens L H, Kuiper A, Coenen M A, Elting J W J, de Vries J J, Engelen M, Koelman J H T M, van Spronsen F J, Spikman J M, de Koning T J, Tijssen M A |
| Improving diagnosis of inherited peripheral neuropathies through gene panel analysis. Orphanet journal of rare diseases 2016 11 (1): 118. Laššuthová Petra, Šafka Brožková Dana, Kr?tová Marcela, Neupauerová Jana, Haberlová Jana, Mazanec Radim, D?ímal Pavel, Seeman Pav |
| MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients. Orphanet journal of rare diseases 2016 11 (1): 91. Fiorillo C, Astrea G, Savarese M, Cassandrini D, Brisca G, Trucco F, Pedemonte M, Trovato R, Ruggiero L, Vercelli L, D'Amico A, Tasca G, Pane M, Fanin M, Bello L, Broda P, Musumeci O, Rodolico C, Messina S, Vita G L, Sframeli M, Gibertini S, Morandi L, Mora M, Maggi L, Petrucci A, Massa R, Grandis M, Toscano A, Pegoraro E, Mercuri E, Bertini E, Mongini T, Santoro L, Nigro V, Minetti C, Santorelli F M, Bruno C, |
- Page last reviewed:Oct 1, 2021
- Page last updated:May 20, 2022
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