Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 78 Records) |
Query Trace: COL4A1[original query] |
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A Novel COL4A2 Mutation Associated with Recurrent Strokes. Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association 2020 9 29 (10): 105156. McHugh Daryl C, Esenwa Charl |
Prevalence of COL4A1 and COL4A2 mutations in severe fetal multifocal hemorrhagic and/or ischemic cerebral lesions. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2020 6 57 (5): 783-789. Maurice P, Guilbaud L, Garel J, Mine M, Dugas A, Friszer S, Maisonneuve E, Moutard M-L, Coste T, Héron D, Tournier-Lasserve E, Garel C, Jouannic J |
Global Assessment of Mendelian Stroke Genetic Prevalence in 101 635 Individuals From 7 Ethnic Groups. Stroke 2020 Feb STROKEAHA119028840. Grami Nickrooz, Chong Michael, Lali Ricky, Mohammadi-Shemirani Pedrum, Henshall David E, Rannikmäe Kristiina, Paré Guillau |
Replication of Top Loci From COL4A1/2 Associated With White Matter Hyperintensity Burden in Patients With Ischemic Stroke. Stroke 2020 11 51 (12): 3751-3755. Li Jiang, Abedi Vida, , Zand Ramin, Griessenauer Christoph |
Rare genetic variants in patients with cervical artery dissection. European stroke journal 2020 1 4 (4): 355-362. Traenka Christopher, Kloss Manja, Strom Tim, Lyrer Philippe, Brandt Tobias, Bonati Leo H, Grond-Ginsbach Caspar, Engelter Stef |
The role of vascular dementia associated genes in patients with Alzheimer's disease: A large case-control study in the Chinese population. CNS neuroscience & therapeutics 2021 Sep . Xiao Xuewen, Guo Lina, Liao Xinxin, Zhou Yafang, Zhang Weiwei, Zhou Lu, Wang Xin, Liu Xixi, Liu Hui, Xu Tianyan, Zhu Yuan, Yang Qijie, Hao Xiaoli, Liu Yingzi, Wang Junling, Li Jinchen, Jiao Bin, Shen |
Are COL4A1 and COL4A2 gene polymorphisms associated with cerebral palsy? Turkish journal of physical medicine and rehabilitation 2021 Jun 67 (2): 242-249. Güvener Orhan, Sezgin Melek, Tezol Özlem, Barlas ?brahim Ömer, Özdemir Asena Ayça, Kan?k Emine Ar |
Rare Missense Functional Variants at COL4A1 and COL4A2 in Sporadic Intracerebral Hemorrhage. Neurology 2021 5 97 (3): e236-47. Chung Jaeyoon, Hamilton Graham, Kim Minsup, Marini Sandro, Montgomery Bailey, Henry Jonathan, Cho Art E, Brown Devin L, Worrall Bradford B, Meschia James F, Silliman Scott L, Selim Magdy, Tirschwell David L, Kidwell Chelsea S, Kissela Brett, Greenberg Steven M, Viswanathan Anand, Goldstein Joshua N, Langefeld Carl D, Rannikmae Kristiina, Sudlow Catherine Lm, Samarasekera Neshika, Rodrigues Mark, Al-Shahi Salman Rustam, Prendergast James G D, Harris Sarah E, Deary Ian, Woo Daniel, Rosand Jonathan, Van Agtmael Tom, Anderson Christopher |
KLK3 SNP-SNP interactions for prediction of prostate cancer aggressiveness. Scientific reports 2021 4 11 (1): 9264. Lin Hui-Yi, Huang Po-Yu, Cheng Chia-Ho, Tung Heng-Yuan, Fang Zhide, Berglund Anders E, Chen Ann, French-Kwawu Jennifer, Harris Darian, Pow-Sang Julio, Yamoah Kosj, Cleveland John L, Awasthi Shivanshu, Rounbehler Robert J, Gerke Travis, Dhillon Jasreman, Eeles Rosalind, Kote-Jarai Zsofia, Muir Kenneth, , Schleutker Johanna, Pashayan Nora, , Neal David E, Nielsen Sune F, Nordestgaard Børge G, Gronberg Henrik, Wiklund Fredrik, Giles Graham G, Haiman Christopher A, Travis Ruth C, Stanford Janet L, Kibel Adam S, Cybulski Cezary, Khaw Kay-Tee, Maier Christiane, Thibodeau Stephen N, Teixeira Manuel R, Cannon-Albright Lisa, Brenner Hermann, Kaneva Radka, Pandha Hardev, , Srinivasan Srilakshmi, Clements Judith, Batra Jyotsna, Park Jong |
Monogenic Causes of Apparently Idiopathic Perinatal Intracranial Hemorrhage. Annals of neurology 2021 2 89 (4): 813-822. Hausman-Kedem Moran, Malinger Gustavo, Modai Shira, Kushner Steven A, Shiran Shelly I, Ben-Sira Liat, Roth Jonathan, Constantini Shlomi, Fattal-Valevski Aviva, Ben-Shachar Sh |
Genome-wide identification of Chiari malformation type I associated candidate genes and chromosomal variations. Turkish journal of biology = Turk biyoloji dergisi 2020 44 (6): 449-456. Av?ar Timuçin, Çali? ?eyma, Yilmaz Baran, Dem?rc? Otluo?lu Gülden, Holyavk?n Can, KiliÇ Türk |
Prune-1 drives polarization of tumor-associated macrophages (TAMs) within the lung metastatic niche in triple-negative breast cancer. iScience 2021 1 24 (1): 101938. Ferrucci Veronica, Asadzadeh Fatemeh, Collina Francesca, Siciliano Roberto, Boccia Angelo, Marrone Laura, Spano Daniela, Carotenuto Marianeve, Chiarolla Cristina Maria, De Martino Daniela, De Vita Gennaro, Macrì Alessandra, Dassi Luisa, Vandenbussche Jonathan, Marino Natascia, Cantile Monica, Paolella Giovanni, D'Andrea Francesco, di Bonito Maurizio, Gevaert Kris, Zollo Massi |
Rare metabolic disease mimicking COL4A1/COL4A2 fetal brain phenotype. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2022 Aug . Coste T, Aloui C, Petit F, Moutton S, Devisme L, Wells C F, Leboucq N, Verpillat P, Yvert M, Rivier F, Tournier-Lasserve |
Frequency and Phenotype Associations of Rare Variants in 5 Monogenic Cerebral Small Vessel Disease Genes in 200,000 UK Biobank Participants. Neurology. Genetics 2022 8 8 (5): e200015. Ferguson Amy Christina, Thrippleton Sophie, Henshall David, Whittaker Ed, Conway Bryan, MacLeod Malcolm, Malik Rainer, Rawlik Konrad, Tenesa Albert, Sudlow Cathie, Rannikmae Kristii |
Rare and Common Variants in COL4A1 in Chinese Patients With Intracerebral Hemorrhage. Frontiers in neurology 2022 6 13 827165. Liu Xiaolu, Yang Qiong, Tang Lu, He Ji, Tian Danyang, Wang Baojun, Xie Lihong, Li Changbao, Fan Dongshe |
A COL4A1 variant in a neonate with multiple intracranial hemorrhages and congenital cataracts. Human genome variation 2022 6 9 (1): 24. Yakabe Ayane, Ikuse Tamaki, Ito Natsuki, Yamada Hiromichi, Saito Nobutomo, Kitamura Yuri, Iwasaki Tomohiro, Ikeno Mitsuru, Suganuma Hiroki, Abe Shinpei, Miyazaki Nao, Hisata Ken, Shoji Hiromichi, Nakazawa Tomoyuki, Eguchi Hidetaka, Shimizu Toshia |
A Genome-Wide Association Study on Abdominal Adiposity-Related Traits in Adult Korean Men. Obesity facts 2022 4 15 (4): 590-599. Kim Hyun-Jin, Son Ho-Young, Sung Joohon, Yun Jae Moon, Kwon Hyuktae, Cho Belong, Kim Jong-Il, Park Jin- |
Genetic Study of Cerebral Small Vessel Disease in Chinese Han Population. Frontiers in neurology 2022 4 13 829438. Wang Yunchao, Shi Changhe, Li Yusheng, Yu Wenkai, Wei Sen, Fan Yu, Mao Chengyuan, Yang Zhihua, Yu Lulu, Zhao Zichen, Li Shanshan, Gao Yuan, Xu Yumi |
Genetic analysis reveals novel variants for vascular cognitive impairment. Acta neurologica Scandinavica 2022 3 146 (1): 42-50. Mönkäre Saana, Kuuluvainen Liina, Schleutker Johanna, Bras Jose, Roine Susanna, Pöyhönen Minna, Guerreiro Rita, Myllykangas Lii |
COL4A1/COL4A2 and inherited platelet disorder gene variants in fetuses showing intracranial hemorrhage. Prenatal diagnosis 2022 2 42 (5): 601-610. Coste Thibault, Vincent-Delorme Catherine, Stichelbout Morgane, Devisme Louise, Gelot Antoinette, Deryabin Igor, Pelluard Fanny, Aloui Chaker, Leutenegger Anne-Louise, Jouannic Jean-Marie, Héron Delphine, Gould Douglas B, Tournier-Lasserve Elisabe |
Prevalence of Mutations in Mendelian Stroke Genes in Early Onset Stroke Patients. Annals of neurology 2022 12 . Park Hong-Kyun, Lee Keon-Joo, Park Jong-Moo, Kang Kyusik, Lee Soo Joo, Kim Jae Guk, Cha Jae-Kwan, Kim Dae-Hyun, Han Moon-Ku, Kang Jihoon, Kim Beom Joon, Park Tai Hwan, Park Moo-Seok, Lee Kyung Bok, Lee Jun, Hong Keun-Sik, Cho Yong-Jin, Lee Byung-Chul, Yu Kyung-Ho, Oh Mi Sun, Kim Joon-Tae, Choi Kang-Ho, Kim Dong-Eog, Ryu Wi-Sun, Choi Jay Chol, Kwon Jee-Hyun, Kim Wook-Joo, Shin Dong-Ick, Sohn Sung Il, Hong Jeong-Ho, Lee Juneyoung, Lee Kyunghoon, Song Junghan, Bae Joon Seol, Cheong Hyun Sub, Debette Stéphanie, Bae Hee-Jo |
Genotype-phenotype association of PITX2 and FOXC1 in Axenfeld-Rieger syndrome. Experimental eye research 2022 11 226 109307. Zhou Lin, Wang Xiaoli, An Jingqi, Zhang Yao, He Mengxia, Tang |
The genetic and phenotypic spectra of adult genetic leukoencephalopathies in a cohort of 309 patients. Brain : a journal of neurology 2022 11 . Wu Chujun, Wang Mengwen, Wang Xingao, Li Wei, Li Shaowu, Chen Bin, Niu Songtao, Tai Hongfei, Pan Hua, Zhang Zaiqia |
High frequency of HTRA1 AND ABCC6 mutations in Japanese patients with adult-onset cerebral small vessel disease. Journal of neurology, neurosurgery, and psychiatry 2022 10 94 (1): 74-81. Uemura Masahiro, Hatano Yuya, Nozaki Hiroaki, Ando Shoichiro, Kondo Hajime, Hanazono Akira, Iwanaga Akira, Murota Hiroyuki, Osakada Yosuke, Osaki Masato, Kanazawa Masato, Kanai Mitsuyasu, Shibata Yoko, Saika Reiko, Miyatake Tadashi, Aizawa Hitoshi, Ikeuchi Takeshi, Tomimoto Hidekazu, Mizuta Ikuko, Mizuno Toshiki, Ishihara Tomohiko, Onodera Osa |
Mendelian etiologies identified with whole exome sequencing in cerebral palsy. Annals of clinical and translational neurology 2022 1 9 (2): 193-205. Chopra Maya, Gable Dustin L, Love-Nichols Jamie, Tsao Alexa, Rockowitz Shira, Sliz Piotr, Barkoudah Elizabeth, Bastianelli Lucia, Coulter David, Davidson Emily, DeGusmao Claudio, Fogelman David, Huth Kathleen, Marshall Paige, Nimec Donna, Sanders Jessica Solomon, Shore Benjamin J, Snyder Brian, Stone Scellig S D, Ubeda Ana, Watkins Colyn, Berde Charles, Bolton Jeffrey, Brownstein Catherine, Costigan Michael, Ebrahimi-Fakhari Darius, Lai Abbe, O'Donnell-Luria Anne, Paciorkowski Alex R, Pinto Anna, Pugh John, Rodan Lance, Roe Eugene, Swanson Lindsay, Zhang Bo, Kruer Michael C, Sahin Mustafa, Poduri Annapurna, Srivastava Siddhar |
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 |
Genotypic Analysis of COL4A1 Gene in Diabetic Nephropathy and Type 2 Diabetes Mellitus Patients: A Comparative Genetic Study. DNA and cell biology 2023 8 . Neha Shukla, Shivani Kumari, Poornima Verma, Atar Singh Kushwah, Monisha Banarjee, S N Sankhwar, Aneesh Srivastava, M S Ansari, Naveen Kumar Gaut |
Rare neurovascular genetic and imaging markers across neurodegenerative diseases. Alzheimer's & dementia : the journal of the Alzheimer's Association 2023 6 . Allison A Dilliott, Stephanie A Berberian, Kelly M Sunderland, Malcolm A Binns, Julia Zimmer, Miracle Ozzoude, Christopher J M Scott, Fuqiang Gao, Anthony E Lang, David P Breen, Maria C Tartaglia, Brian Tan, Richard H Swartz, Ekaterina Rogaeva, Michael Borrie, Elizabeth Finger, Corinne E Fischer, Andrew Frank, Morris Freedman, Sanjeev Kumar, Stephen Pasternak, Bruce G Pollock, Tarek K Rajji, David F Tang-Wai, Agessandro Abrahao, John Turnbull, Lorne Zinman, Leanne Casaubon, Dar Dowlatshahi, Ayman Hassan, Jennifer Mandzia, Demetrios Sahlas, Gustavo Saposnik, David Grimes, Connie Marras, Thomas Steeves, Mario Masellis, Sali M K Farhan, Robert Bartha, Sean Symons, Robert A Hegele, Sandra E Black, Joel Ramirez, |
Diagnostic Utility of Exome Sequencing Among Israeli Children With Kidney Failure. Kidney international reports 2023 10 8 (10): 2126-2135. Yishay Ben-Moshe, Omer Shlomovitz, Danit Atias-Varon, Orly Haskin, Efrat Ben-Shalom, Hadas Shasha Lavsky, Oded Volovelsky, Shrikant Mane, Dror Ben-Ruby, Guy Chowers, Karl Skorecki, Yael Borovitz, Maayan Kagan, Nofar Mor, Yulia Khavkin, Shimrit Tzvi-Behr, Shirley Pollack, Moran Plonsky Toder, Michael Geylis, Aviad Schnapp, Rachel Becker-Cohen, Irith Weissman, Ruth Schreiber, Miriam Davidovits, Yaacov Frishberg, Daniella Magen, Ortal Barel, Asaf Vivan |
Genotype and phenotype characteristics of West syndrome in 20 Vietnamese children: Two novel variants detected by next-generation sequencing. Epilepsy research 2023 1 190 107094. Duc Nguyen Minh, Thu Nguyen Thuy Minh, Bui Chi-Bao, Hoa Giang, Le Trung Hieu Nguy |
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- Page last updated:Apr 29, 2024
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