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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 13 (of 13 Records)

Query Trace: Disease and NSD1[original query]
De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects.
PLoS genetics 2016 Apr 12 (4): e1005963.
Priest James R, Osoegawa Kazutoyo, Mohammed Nebil, Nanda Vivek, Kundu Ramendra, Schultz Kathleen, Lammer Edward J, Girirajan Santhosh, Scheetz Todd, Waggott Daryl, Haddad Francois, Reddy Sushma, Bernstein Daniel, Burns Trudy, Steimle Jeffrey D, Yang Xinan H, Moskowitz Ivan P, Hurles Matthew, Lifton Richard P, Nickerson Debbie, Bamshad Michael, Eichler Evan E, Mital Seema, Sheffield Val, Quertermous Thomas, Gelb Bruce D, Portman Michael, Ashley Euan
19p13.2 Microdeletion including NFIX associated with overgrowth and intellectual disability suggestive of Malan syndrome.
Molecular cytogenetics 2016 9 71.
Dong Hai-Yun, Zeng Hui, Hu Yi-Qiao, Xie Li, Wang Jian, Wang Xiu-Ying, Yang Yi-Feng, Tan Zhi-Pi
Genetic variants in microRNA genes and targets associated with cardiovascular disease risk factors in the African-American population.
Human genetics 2017 12 137 (1): 85-94.
Li Chang, Grove Megan L, Yu Bing, Jones Barbara C, Morrison Alanna, Boerwinkle Eric, Liu Xiaomi
Genetic profile of isolated congenital diaphragmatic hernia revealed by targeted next-generation sequencing.
Prenatal diagnosis 2018 Jul .
Kammoun Molka, Souche Erika, Brady Paul, Ding Jia, Cosemans Nele, Gratacos Eduard, Devriendt Koen, Eixarch Elisenda, Deprest Jan, Vermeesch Joris Robe
Risk-stratified therapy for children with FLT3-ITD-positive acute myeloid leukemia: results from the JPLSG AML-05 study.
International journal of hematology 2018 1 107 (5): 586-595.
Shimada Akira, Iijima-Yamashita Yuka, Tawa Akio, Tomizawa Daisuke, Yamada Miho, Norio Shiba, Watanabe Tomoyuki, Taga Takashi, Iwamoto Shotaro, Terui Kiminori, Moritake Hiroshi, Kinoshita Akitoshi, Takahashi Hiroyuki, Nakayama Hideki, Koh Katsuyoshi, Goto Hiroaki, Kosaka Yoshiyuki, Saito Akiko Moriya, Kiyokawa Nobutaka, Horibe Keizo, Hara Yusuke, Oki Kentaro, Hayashi Yasuhide, Tanaka Shiro, Adachi Souic
Mutation Spectrum of Cancer-Associated Genes in Patients With Early Onset of Colorectal Cancer.
Frontiers in oncology 2019 8 9 673.
Zhunussova Gulnur, Afonin Georgiy, Abdikerim Saltanat, Jumanov Abai, Perfilyeva Anastassiya, Kaidarova Dilyara, Djansugurova Ley
Comprehensive Analysis of Rare Variants of 101 Autism-Linked Genes in a Hungarian Cohort of Autism Spectrum Disorder Patients.
Frontiers in genetics 2019 5 10 434.
Balicza Péter, Varga Noémi Ágnes, Bolgár Bence, Pentelényi Klára, Bencsik Renáta, Gál Anikó, Gézsi András, Prekop Csilla, Molnár Viktor, Molnár Mária Jud
Common variation of the NSD1 gene is associated with susceptibility to Hirschsprung's disease in Chinese Han population.
Pediatric research 2020 May .
Yu Xian-Xian, Chu Xun, Wu Wen-Jie, Wei Zhi-Liang, Song Huan-Lei, Bai Mei-Rong, Lu Yan-Jiao, Gu Bei-Lin, Gong Yi-Ming, Cai W
Genetic heterogeneity of disorders with overgrowth and intellectual disability: Experience from a center in North India.
American journal of medical genetics. Part A 2021 5 185 (8): 2345-2355.
Moirangthem Amita, Mandal Kausik, Saxena Deepti, Srivastava Priyanka, Gambhir Poonam Singh, Agrawal Neha, Shambhavi Arya, Nampoothiri Sheela, Phadke Shubha
Investigation of Copy Number Variation in South African Patients With Congenital Heart Defects.
Circulation. Genomic and precision medicine 2022 Oct 101161CIRCGEN121003510.
Saacks Nicole A, Eales James, Spracklen Timothy F, Aldersley Thomas, Human Paul, Verryn Mark, Lawrenson John, Cupido Blanche, Comitis George, De Decker Rik, Fourie Barend, Swanson Lenise, Joachim Alexia, Brooks Andre, Ramesar Raj, Shaboodien Gasnat, Keavney Bernard D, Zühlke Liesl
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
The epigenetic modifier lysine methyltransferase 2C is frequently mutated in gastric remnant carcinoma.
The journal of pathology. Clinical research 2023 7 .
Bo Sun, Haojie Chen, Jiawen Lao, Cong Tan, Yue Zhang, Zhen Shao, Dazhi
Comprehensive molecular and clinical characterization of NUP98 fusions in pediatric acute myeloid leukemia.
Haematologica 2023 2 .
Bertrums Eline J M, Smith Jenny L, Harmon Lauren, Ries Rhonda E, Wang Yi-Cheng J, Alonzo Todd A, Menssen Andrew J, Chisholm Karen M, Leonti Amanda R, Tarlock Katherine, Ostronoff Fabiana, Pogosova-Agadjanyan Era L, Kaspers Gertjan J L, Hasle Henrik, Dworzak Michael, Walter Christiane, Muhlegger Nora, Morerio Cristina, Pardo Laura, Hirsch Betsy, Raimondi Susana, Cooper Todd M, Aplenc Richard, Gamis Alan S, Kolb Edward A, Farrar Jason E, Stirewalt Derek, Ma Xiaotu, Shaw Tim I, Furlan Scott N, Brodersen Lisa Eidenschink, Loken Michael R, Van den Heuvel-Eibrink Marry M, Zwaan C Michel, Triche Timothy J, Goemans Bianca F, Meshinchi Sohe
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