Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 33 Records) |
Query Trace: Syndrome and CBS[original query] |
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Lack of association of polymorphisms in homocysteine metabolism genes with pseudoexfoliation syndrome and glaucoma. Molecular vision 2008 14 2484-91. Fan Bao Jian, Chen Teresa, Grosskreutz Cynthia, Pasquale Louis, Rhee Douglas, DelBono Elizabeth, Haines Jonathan L, Wiggs Janey |
Investigation of CBS, MTR, RFC-1 and TC polymorphisms as maternal risk factors for Down syndrome. Disease markers 2009 26 (4): 155-61. Fintelman-Rodrigues N, Corrêa J C, Santos J M, Pimentel M M G, Santos-Rebouças C |
Variation in folate pathway genes contributes to risk of congenital heart defects among individuals with Down syndrome. Genetic epidemiology 2010 Sep 34 (6): 613-23. Locke Adam E, Dooley Kenneth J, Tinker Stuart W, Cheong Soo Yeon, Feingold Eleanor, Allen Emily G, Freeman Sallie B, Torfs Claudine P, Cua Clifford L, Epstein Michael P, Wu Michael C, Lin Xihong, Capone George, Sherman Stephanie L, Bean Lora J |
VEGF haplotypes are associated with increased risk to progressive supranuclear palsy and corticobasal syndrome. Journal of Alzheimer's disease : JAD 2010 21 (1): 87-94. Borroni Barbara, Del Bo Roberto, Goldwurm Stefano, Archetti Silvana, Bonvicini Cristian, Agosti Chiara, Bigni Barbara, Papetti Alice, Ghezzi Serena, Sacilotto Giorgio, Pezzoli Gianni, Gennarelli Massimo, Bresolin Nereo, Comi Giacomo Pietro, Padovani Alessand |
Maternal gene polymorphisms involved in folate metabolism as risk factors for Down syndrome offspring in Southern Brazil. Disease markers 2010 29 (2): 95-101. Brandalize Ana Paula Carneiro, Bandinelli Eliane, Dos Santos Pollyanna Almeida, Schüler-Faccini Lavín |
Transcobalamin-II variants, decreased vitamin B12 availability and increased risk of frailty. The journal of nutrition, health & aging 2010 Jan 14 (1): 73-7. Matteini A M, Walston J D, Bandeen-Roche K, Arking D E, Allen R H, Fried L P, Chakravarti A, Stabler S P, Fallin M |
Corticobasal and ataxia syndromes widen the spectrum of C9ORF72 hexanucleotide expansion disease. Clinical genetics 2013 Mar 83 (3): 279-83. Lindquist S G, Duno M, Batbayli M, Puschmann A, Braendgaard H, Mardosiene S, Svenstrup K, Pinborg L H, Vestergaard K, Hjermind L E, Stokholm J, Andersen B B, Johannsen P, Nielsen J |
Maternal gene polymorphisms involved in folate metabolism and the risk of having a Down syndrome offspring: a meta-analysis. Mutagenesis 2013 Nov 28 (6): 661-71. Yang Mei, Gong Tian, Lin Xiaofang, Qi Ling, Guo Yiyang, Cao Zhongqiang, Shen Min, Du Yuk |
Microtubule-associated protein tau genetic variations are uncommon cause of frontotemporal dementia in south India. Neurobiology of aging 2014 Feb 35 (2): 443.e23-4. Aswathy P M, Jairani P S, Verghese Joe, Gopala Srinivas, Mathuranath P |
Polymorphisms in genes RFC-1/CBS as maternal risk factors for Down syndrome in China. Archives of gynecology and obstetrics 2013 Aug 288 (2): 273-7. Wang Shao-shuai, Wang Chao, Qiao Fu-yuan, Lv Juan-juan, Feng Li |
DHFR 19-bp deletion and SHMT C1420T polymorphisms and metabolite concentrations of the folate pathway in individuals with Down syndrome. Genetic testing and molecular biomarkers 2013 Apr 17 (4): 274-7. Mendes Cristiani Cortez, Raimundo Aline Maria Zanchetta de Aquino, Oliveira Luciana Dutra, Zampieri Bruna Lancia, Marucci Gustavo Henrique, Biselli Joice Matos, Goloni-Bertollo Eny Maria, Eberlin Marcos Nogueira, Haddad Renato, Riccio Maria Francesca, Vannucchi Hélio, Carvalho Valdemir Melechco, Pavarino Érika Cristi |
Genetic polymorphisms involved in folate metabolism and maternal risk for down syndrome: a meta-analysis. Disease markers 2014 2014 517504. Balduino Victorino Daniella, de Godoy Moacir Fernandes, Goloni-Bertollo Eny Maria, Pavarino Érika Cristi |
Folate metabolism gene polymorphisms and risk for down syndrome offspring in Turkish women. Genetic testing and molecular biomarkers 2015 Apr 19 (4): 191-7. Izci Ay Ozlem, Ay Mustafa Ertan, Erdal Mehmet Emin, Cayan Filiz, Tekin Sevinc, Soylemez Fatma, Sungur Mehmet Ali, Derici Y?ld?r?m Did |
GBA-associated parkinsonism and dementia: beyond a-synucleinopathies? European journal of neurology : the official journal of the European Federation of Neurological Societies 2015 Nov . Pilotto A, Schulte C, Hauser A K, Biskup S, Munz M, Brockmann K, Schaeffer E, Synofzik M, Maetzler W, Suenkel U, Srulijes K, Gasser T, Berg |
Semantic and nonfluent aphasic variants, secondarily associated with amyotrophic lateral sclerosis, are predominant frontotemporal lobar degeneration phenotypes in TBK1 carriers. Alzheimer's & dementia (Amsterdam, Netherlands) 2015 Dec 1 (4): 481-6. Caroppo Paola, Camuzat Agnès, De Septenville Anne, Couratier Philippe, Lacomblez Lucette, Auriacombe Sophie, Flabeau Olivier, Jornéa Ludmila, Blanc Frederic, Sellal François, Cretin Benjamin, Meininger Vincent, Fleury Marie-Céline, Couarch Philippe, Dubois Bruno, Brice Alexis, Le Ber Isabel |
Posterior cortical atrophy as a primary clinical phenotype of corticobasal syndrome with a progranulin gene rs5848 TT genotype. Orphanet journal of rare diseases 2016 11 (1): 13. Peng Guoping, Liu Ping, He Fangping, Luo Beny |
Association between polymorphisms in folate metabolism genes and maternal risk for Down syndrome: A meta-analysis. Molecular and clinical oncology 2017 Sep 7 (3): 367-377. Gu Yanqi |
Screening of six polymorphisms related with folate metabolism in parents of individuals with Down syndrome. The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians 2017 Nov 1-191. Balarin Marly Aparecida Spadotto, Cintra Mariângela Torreglosa Ruiz, Cordeiro Fernanda, Naves Lucila, da Silva-Grecco Roseane Lop |
Genetic variation affecting DNA methylation and the human imprinting disorder, Beckwith-Wiedemann syndrome. Clinical epigenetics 2018 Aug 10 (1): 114. Dagar Vinod, Hutchison Wendy, Muscat Andrea, Krishnan Anita, Hoke David, Buckle Ashley, Siswara Priscillia, Amor David J, Mann Jeffrey, Pinner Jason, Colley Alison, Wilson Meredith, Sachdev Rani, McGillivray George, Edwards Matthew, Kirk Edwin, Collins Felicity, Jones Kristi, Taylor Juliet, Hayes Ian, Thompson Elizabeth, Barnett Christopher, Haan Eric, Freckmann Mary-Louise, Turner Anne, White Susan, Kamien Ben, Ma Alan, Mackenzie Fiona, Baynam Gareth, Kiraly-Borri Cathy, Field Michael, Dudding-Byth Tracey, Algar Elizabeth |
MAPT p.V363I mutation: A rare cause of corticobasal degeneration. Neurology. Genetics 2019 8 5 (4): e347. Ahmed Sarah, Fairen Monica Diez, Sabir Marya S, Pastor Pau, Ding Jinhui, Ispierto Lourdes, Butala Ankur, Morris Christopher M, Schulte Claudia, Gasser Thomas, Jabbari Edwin, Pletnikova Olga, Morris Huw R, Troncoso Juan, Gelpi Ellen, Pantelyat Alexander, Scholz Sonja |
F-flortaucipir (AV-1451) tau PET in frontotemporal dementia syndromes. Alzheimer's research & therapy 2019 2 11 (1): 13. Tsai Richard M, Bejanin Alexandre, Lesman-Segev Orit, LaJoie Renaud, Visani Adrienne, Bourakova Viktoriya, O'Neil James P, Janabi Mustafa, Baker Suzanne, Lee Suzee E, Perry David C, Bajorek Lynn, Karydas Anna, Spina Salvatore, Grinberg Lea T, Seeley William W, Ramos Eliana M, Coppola Giovanni, Gorno-Tempini Maria Luisa, Miller Bruce L, Rosen Howard J, Jagust William, Boxer Adam L, Rabinovici Gil |
Diagnosis Across the Spectrum of Progressive Supranuclear Palsy and Corticobasal Syndrome. JAMA neurology 2019 12 77 (3): 377-387. Jabbari Edwin, Holland Negin, Chelban Viorica, Jones P Simon, Lamb Ruth, Rawlinson Charlotte, Guo Tong, Costantini Alyssa A, Tan Manuela M X, Heslegrave Amanda J, Roncaroli Federico, Klein Johannes C, Ansorge Olaf, Allinson Kieren S J, Jaunmuktane Zane, Holton Janice L, Revesz Tamas, Warner Thomas T, Lees Andrew J, Zetterberg Henrik, Russell Lucy L, Bocchetta Martina, Rohrer Jonathan D, Williams Nigel M, Grosset Donald G, Burn David J, Pavese Nicola, Gerhard Alexander, Kobylecki Christopher, Leigh P Nigel, Church Alistair, Hu Michele T M, Woodside John, Houlden Henry, Rowe James B, Morris Huw |
Combination of Panel-based Next-Generation Sequencing and Clinical Findings in Congenital Ectopia Lentis Diagnosed in Chinese Patients. American journal of ophthalmology 2021 Nov . Chen Tian-Hui, Chen Ze-Xu, Zhang Min, Chen Jia-Hui, Deng Michael, Zheng Jia-Lei, Lan Li-Na, Jiang Yong-Xia |
Phenotypic and genotypic characteristics of children with Bartter syndrome. The Turkish journal of pediatrics 2022 10 64 (5): 825-838. Güven Serçin, Gökçe ?brahim, Alavanda Ceren, Çiçek Neslihan, Demirci Ece Bodur, Sak Mehtap, Pul Serim, Türkkan Özde Nisa, Y?ld?z Nurdan, Ata P?nar, Alpay Hari |
TARDBP mutations in a cohort of Italian patients with Parkinson's disease and atypical parkinsonisms. Frontiers in aging neuroscience 2022 10 14 1020948. Tiloca Cinzia, Goldwurm Stefano, Calcagno Narghes, Verde Federico, Peverelli Silvia, Calini Daniela, Zecchinelli Anna Lena, Sangalli Davide, Ratti Antonia, Pezzoli Gianni, Silani Vincenzo, Ticozzi Nico |
Role of Apolipoprotein E in the Clinical Profile of Atypical Parkinsonian Syndromes. Alzheimer disease and associated disorders 2022 1 36 (1): 36-43. Nasri Amina, Sghaier Ikram, Gharbi Alya, Mrabet Saloua, Ben Djebara Mouna, Gargouri Amina, Kacem Imen, Gouider Ria |
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 |
Folate gene polymorphisms CBS 844ins68 and RFC1 A80G and risk of Down syndrome offspring in young Iranian women: A cross-sectional study. International journal of reproductive biomedicine 2024 4 22 (2): 127-138. Neda Farajnezhad, Pegah Ghandil, Maryam Tahmasebi-Birgani, Javad Mohammadi-A |
Phenotypic spectrum of Progressive Supranuclear Palsy: Clinical study and APOE effect. Journal of movement disorders 2024 1 . Amina Nasri, Ikram Sghaier, Anis Neji, Alya Gharbi, Youssef Abida, Saloua Mrabet, Amina Gargouri, Mouna Ben Djebara, Imen Kacem, Riadh Gouid |
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- Page last updated:Apr 22, 2024
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