Human Genome Epidemiology Literature Finder
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Records 1 - 17 (of 17 Records) |
| Query Trace: Homocystinuria and CBS[original query] |
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| Cystathionine beta-synthase deficiency in Central Europe: discrepancy between biochemical and molecular genetic screening for homocystinuric alleles. Human mutation 2001 Dec 18 (6): 548-9. Sokolová J, Janosíková B, Terwilliger J D, Freiberger T, Kraus J P, Kozich |
| Molecular and clinical characterisation of homocystinuria in two Austrian families with cystathionine beta-synthase deficiency. Acta medica Austriaca 2002 1 28 (5): 145-51. Tröndle U, Sunder-Plassmann G, Burgmann H, Buchmayer H, Kramer L, Bieglmayer C, Hörl W H, Födinger |
| The cystathionine beta-synthase (CBS) mutation c.1224-2A>C in Central Europe: Vitamin B6 nonresponsiveness and a common ancestral haplotype. Human mutation 2004 Oct 24 (4): 352-3. Linnebank Michael, Janosik Miroslav, Kozich Viktor, Pronicka Ewa, Kubalska Jolanta, Sokolova Jitka, Linnebank Anja, Schmidt Eva, Leyendecker Christina, Klockgether Thomas, Kraus Jan Peter, Koch Hans Geo |
| The molecular basis of cystathionine beta-synthase (CBS) deficiency in UK and US patients with homocystinuria. Human mutation 2004 1 23 (2): 206. Moat Stuart J, Bao Liming, Fowler Brian, Bonham James R, Walter John H, Kraus Jan |
| Cystathionine beta-synthase T833C/844INS68 polymorphism: a family-based study on mentally retarded children. Behavioral and brain functions : BBF 2005 1 (): 25. Dutta Samikshan, Sinha Swagata, Chattopadhyay Anindita, Gangopadhyay Prasanta Kumar, Mukhopadhyay Jotideb, Singh Manoranjan, Mukhopadhyay Kanch |
| Correlation between cystathionine beta synthase gene polymorphisms, plasma homocysteine and idiopathic mental retardation in Indian individuals from Kolkata. Neuroscience letters 2009 Apr 453 (3): 214-8. Dutta Samikshan, Chatterjee Arpita, Sinha Swagata, Chattopadhyay Anindita, Mukhopadhyay Kanch |
| Molecular neonatal screening for homocystinuria in the Qatari population. Human mutation 2009 Jun 30 (6): 1021-2. Zschocke Johannes, Kebbewar Moustafa, Gan-Schreier Hongying, Fischer Christine, Fang-Hoffmann Junmin, Wilrich Julia, Abdoh Ghassan, Ben-Omran Tawfeg, Shahbek Noora, Lindner Martin, Al Rifai Hilal, Al Khal Abdul Latif, Hoffmann Georg |
| Neurodevelopmental and Cognitive Outcomes of Classical Homocystinuria: Experience from Qatar. JIMD reports 2015 21 89-95. El Bashir Haitham, Dekair Lubna, Mahmoud Yasmeen, Ben-Omran Tawf |
| Molecular and biochemical investigations of patients with intermediate or severe hyperhomocysteinemia. Molecular genetics and metabolism 2015 Dec . Sørensen Jannie Tanderup, Gaustadnes Mette, Stabler Sally P, Allen Robert H, Mudd S Harvey, Hvas Anne-Met |
| CBS mutations are good predictors for B6-responsiveness: A study based on the analysis of 35 Brazilian Classical Homocystinuria patients. Molecular genetics & genomic medicine 2018 9 6 (5): 861. Authors are not available |
| Eight novel mutations of CBS gene in nine Chinese patients with classical homocystinuria. World journal of pediatrics : WJP 2018 3 14 (2): 197-203. Li Dong-Xiao, Li Xi-Yuan, Dong Hui, Liu Yu-Peng, Ding Yuan, Song Jin-Qing, Jin Ying, Zhang Yao, Wang Qiao, Yang Yan-Li |
| CBS mutations are good predictors for B6-responsiveness: A study based on the analysis of 35 Brazilian Classical Homocystinuria patients. Molecular genetics & genomic medicine 2018 1 6 (2): 160-170. Poloni Soraia, Sperb-Ludwig Fernanda, Borsatto Taciane, Weber Hoss Giovana, Doriqui Maria Juliana R, Embiruçu Emília K, Boa-Sorte Ney, Marques Charles, Kim Chong A, Fischinger Moura de Souza Carolina, Rocha Helio, Ribeiro Marcia, Steiner Carlos E, Moreno Carolina A, Bernardi Pricila, Valadares Eugenia, Artigalas Osvaldo, Carvalho Gerson, Wanderley Hector Y C, Kugele Johanna, Walter Melanie, Gallego-Villar Lorena, Blom Henk J, Schwartz Ida Vanessa |
| A proactive genotype-to-patient-phenotype map for cystathionine beta-synthase. Genome medicine 2020 2 12 (1): 13. Sun Song, Weile Jochen, Verby Marta, Wu Yingzhou, Wang Yang, Cote Atina G, Fotiadou Iosifina, Kitaygorodsky Julia, Vidal Marc, Rine Jasper, Ješina Pavel, Kožich Viktor, Roth Frederick |
| Recurrent dislocation of binocular crystal lenses in a patient with cystathionine beta-synthase deficiency. BMC ophthalmology 2021 5 21 (1): 212. Hua Ning, Ning Yuxian, Zheng Hui, Zhao Ledong, Qian Xuehan, Wormington Charles, Wang Jingy |
| Molecular evaluation of exon 8 cystathionine rs5742905T T>C gene polymorphism and determination of its frequency, distribution pattern, and association with susceptibility to Coronary Artery Disease. In North Indian Population. Cardiovascular & hematological disorders drug targets 2021 Mar . Sumi Mamta P, Guru Sameer Ahmad, Mir Rashid, Bhat Musadiq A, Sahu Samantak, Girish M P, Saxena Alpa |
| Clinical exome sequencing uncovers a high frequency of Mendelian disorders in infants with stroke: A retrospective analysis. American journal of medical genetics. Part A 2022 Sep . Kumar Runjun D, Meng Linyan, Liu Pengfei, Miyake Christina Y, Worley Kim C, Bi Weimin, Lalani Seema |
| An adult with cystathionine beta-synthase deficiency, camptodactyly-arthropathy-coxa vara-pericarditis syndrome, and deafness: A case report. Genetics and molecular biology 2024 4 47 (1): e20220335. Karina Carvalho Donis, Marco Antônio Baptista Kalil, Fabiano Poswar, Fernando Kok, Charles Lubianca Kohem, Soraia Poloni, Taciane Borsatto, Filippo Pinto E Vairo, Franciele Cabral Pinheiro, Ida Vanessa Doederlein Schwar |
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