Human Genome Epidemiology Literature Finder
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Records 1 - 13 (of 13 Records) |
| Query Trace: Counseling and HD[original query] |
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| Huntington disease: DNA analysis in Brazilian population. Arquivos de neuro-psiquiatria 2000 Dec 58 (4): 977-85. Raskin S, Allan N, Teive H A, Cardoso F, Haddad M S, Levi G, Boy R, Lerena Junior J, Sotomaior V S, Janzen-Dück M, Jardim L B, Fellander F R, Andrade L |
| Presymptomatic testing in Huntington's disease and autosomal dominant cerebellar ataxias. Neurology 2002 Nov 59 (9): 1330-6. Goizet C, Lesca G, Dürr A, |
| Polymerase chain reaction-single strand conformational polymorphism analysis of rearranged during transfection proto-oncogene in Chinese familial Hirschsprung's disease. World journal of gastroenterology 2005 1 11 (2): 275-9. Guan Tao, Li Ji-Cheng, Li Min-Ju, Tou Jin- |
| FXTAS is rare among Portuguese patients with movement disorders: FMR1 premutations may be associated with a wider spectrum of phenotypes. Behavioral and brain functions : BBF 2011 7 (1): 19. Seixas Ana I, Vale José, Jorge Paula, Marques Isabel, Santos Rosário, Alonso Isabel, Fortuna Ana M, Pinto-Basto Jorge, Coutinho Paula, Margolis Russell L, Sequeiros Jorge, Silveira Isab |
| Prenatal diagnosis of congenital heart defect by genome-wide high-resolution SNP array. Prenatal diagnosis 2014 Sep 34 (9): 858-63. Liao Can, Li Ru, Fu Fang, Xie Guie, Zhang Yongling, Pan Min, Li Jian, Li Dongz |
| CFTR mutations spectrum and the efficiency of molecular diagnostics in Polish cystic fibrosis patients. PloS one 2014 9 (2): e89094. Zi?tkiewicz Ewa, Rutkiewicz Ewa, Pogorzelski Andrzej, Klimek Barbara, Voelkel Katarzyna, Witt Mich |
| Clinical manifestations of intermediate allele carriers in Huntington disease. Neurology 2016 Jul . Cubo Esther, Ramos-Arroyo María A, Martinez-Horta Saul, Martínez-Descalls Asunción, Calvo Sara, Gil-Polo Cecilia, |
| RYR2, PTDSS1 and AREG genes are implicated in a Lebanese population-based study of copy number variation in autism. Scientific reports 2016 6 19088. Soueid Jihane, Kourtian Silva, Makhoul Nadine J, Makoukji Joelle, Haddad Sariah, Ghanem Simona S, Kobeissy Firas, Boustany Rose-Ma |
| Rare germline alterations in cancer-related genes associated with the risk of multiple primary tumor development. Journal of molecular medicine (Berlin, Germany) 2017 Jan . Villacis Rolando A R, Basso Tatiane R, Canto Luisa M, Pinheiro Maísa, Santiago Karina M, Giacomazzi Juliana, de Paula Cláudia A A, Carraro Dirce M, Ashton-Prolla Patrícia, Achatz Maria I, Rogatto Silvia |
| Fetal congenital heart disease: Associated anomalies, identification of genetic anomalies by single-nucleotide polymorphism array analysis, and postnatal outcome. Medicine 2018 12 97 (50): e13617. Cai Meiying, Huang Hailong, Su Linjuan, Lin Na, Wu Xiaoqing, Xie Xiaorui, An Gang, Li Ying, Lin Yuan, Xu Liang |
| Detection of copy number disorders associated with congenital anomalies of the kidney and urinary tract in fetuses via single nucleotide polymorphism arrays. Journal of clinical laboratory analysis 2019 9 34 (1): e23025. Cai Meiying, Lin Na, Su Linjuan, Wu Xiaoqing, Xie Xiaorui, Li Ying, Chen Xuemei, Dai Yifang, Lin Yuan, Huang Hailong, Xu Liang |
| Screening for the C9ORF72 expansion in Greek Huntington Disease phenocopies and controls and meta-analysis of current data. Tremor and other hyperkinetic movements (New York, N.Y.) 2020 8 10 5. Rikos Dimitrios, Marogianni Chrysoula, Provatas Antonios, Bourinaris Thomas, Arnaoutoglou Marianthi, Stathis Pantelis, Patrinos George P, Dardiotis Efthimios, Hadjigeorgiou George M, Xiromerisiou Georg |
| Copy number variations associated with fetal congenital kidney malformations. Molecular cytogenetics 2020 13 11. Cai Meiying, Lin Na, Su Linjuan, Wu Xiaoqing, Xie Xiaorui, Li Ying, Chen Xuemei, Lin Yuan, Huang Hailong, Xu Liang |
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