Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 30 (of 75 Records) |
Query Trace: Uniparental Disomy Of 6[original query] |
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Contribution of gene mutations to Silver-Russell syndrome phenotype: multigene sequencing analysis in 92 etiology-unknown patients. Clinical epigenetics 2020 6 12 (1): 86. Inoue Takanobu, Nakamura Akie, Iwahashi-Odano Megumi, Tanase-Nakao Kanako, Matsubara Keiko, Nishioka Junko, Maruo Yoshihiro, Hasegawa Yukihiro, Suzumura Hiroshi, Sato Seiji, Kobayashi Yoshiyuki, Murakami Nobuyuki, Nakabayashi Kazuhiko, Yamazawa Kazuki, Fuke Tomoko, Narumi Satoshi, Oka Akira, Ogata Tsutomu, Fukami Maki, Kagami Masa |
Genetic testing on products of conception and its relationship with body mass index. Journal of assisted reproduction and genetics 2020 6 37 (8): 1853-1860. Wang Linlin, Xu Jiawei, Niu Wenbin, Hu Linli, Zhang Yile, Sun Ying |
Pancreatic Neuroendocrine Neoplasm Associated with a Familial MAX Deletion. Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme 2020 6 52 (11): 784-787. Petignot Sandrine, Daly Adrian F, Castermans Emilie, Korpershoek Esther, Scagnol Irène, Beckers Pablo, Dideberg Vinciane, Rohmer Vincent, Bours Vincent, Beckers Albe |
Clinicopathological and molecular features of hereditary leiomyomatosis and renal cell cancer-associated renal cell carcinomas. Journal of clinical pathology 2020 5 73 (12): 819-825. Furuya Mitsuko, Iribe Yasuhiro, Nagashima Yoji, Kambe Naotomo, Ohe Chisato, Kinoshita Hidefumi, Sato Chika, Kishida Takeshi, Okubo Yoichiro, Numakura Kazuyuki, Nanjo Hiroshi, Nakaigawa Noboru, Makiyama Kazuhide, Hasumi Hisashi, Iwashita Hiromichi, Ohta Junichi, Kitamura Hiroshi, Nakajima Takahiko, Yoshida Takahiro, Nakagawa Masahiro, Tanaka Reiko, Yao Masahi |
Heterozygous/dispermic complete mole confers a significantly higher risk for post-molar gestational trophoblastic disease. Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 2020 5 33 (10): 1979-1988. Zheng Xing-Zheng, Qin Xu-Ying, Chen Su-Wen, Wang Peng, Zhan Yang, Zhong Ping-Ping, Buza Natalia, Jin Yu-Lan, Wu Bing-Quan, Hui P |
Detection of copy number variants with chromosomal microarray in 10 377 pregnancies at a single laboratory. Acta obstetricia et gynecologica Scandinavica 2020 4 99 (6): 775-782. Lin Yi-Hui, Jong Yiin-Jeng, Huang Pin-Chia, Tsai Chr |
Study on the correlation between the ultrasound phenotype and copy number variation of abnormal embryo in spontaneous abortion. The journal of obstetrics and gynaecology research 2021 9 47 (11): 3779-3788. Tan Shuyin, Pan Pingshan, Yang Zuojian, Su Jiasun, Wei Hongw |
Screening of patients born small for gestational age with the Silver-Russell syndrome phenotype for DLK1 variants. European journal of human genetics : EJHG 2021 7 29 (12): 1756-1761. Pham Aurélie, Sobrier Marie-Laure, Giabicani Eloïse, Le Jules Fernandes Marilyne, Mitanchez Delphine, Brioude Fréderic, Netchine Irè |
[Beckwith-Wiedemann over-growth syndrom]. Ugeskrift for laeger 2021 6 183 (24): . Leunbach Tina, Farholt Stense, Skakkebæk Anne, Gregersen Pernille Ax |
The prognostic significance of single-nucleotide polymorphism array-based whole-genome analysis and uniparental disomy in myelodysplastic syndrome. International journal of laboratory hematology 2021 3 43 (5): 1062-1069. Ou Yang, Yang Yan, Yu Hongbin, Zhang Xin, Liu Min, Wu |
Recurrent Androgenetic Complete Hydatidiform Moles with p57-Positive in a Chinese Family. Reproductive sciences (Thousand Oaks, Calif.) 2021 10 29 (6): 1749-1755. Li Ming-Wei, Li Fan, Cheng Jin, Wang Fei, Zhou Pi |
Genetic spectrum and clinical features in a cohort of Chinese patients with autosomal recessive cerebellar ataxias. Translational neurodegeneration 2021 10 10 (1): 40. Cheng Hao-Ling, Shao Ya-Ru, Dong Yi, Dong Hai-Lin, Yang Lu, Ma Yin, Shen Ying, Wu Zhi-Yi |
Genetic diagnoses in pediatric patients with epilepsy and comorbid intellectual disability. Epilepsy research 2021 1 170 106552. Yang Mei, Xu Bocheng, Wang Jiamin, Zhang Zhu, Xie Hanbing, Wang He, Hu Ting, Liu Shanli |
One test for all: whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver-Russell syndrome. Orphanet journal of rare diseases 2021 1 16 (1): 42. Meyer Robert, Begemann Matthias, Hübner Christian Thomas, Dey Daniela, Kuechler Alma, Elgizouli Magdeldin, Schara Ulrike, Ambrozaityte Laima, Burnyte Birute, Schröder Carmen, Kenawy Asmaa, Kroisel Peter, Demuth Stephanie, Fekete Gyorgy, Opladen Thomas, Elbracht Miriam, Eggermann Thom |
[The diagnostic value of chromosome microarray analysis technique in the genetic causes of children with intellectual disability or global developmental delay]. Zhonghua yi xue za zhi 2021 1 101 (3): 224-228. Wu H R, Li L, Ma Y N, Liu C L, Pei P, Zheng X F, Wang S T, Xiao Y, Bu D F, Xu Y F, Pan H, Qi |
Genetic subtypes and phenotypic characteristics of 110 patients with Prader-Willi syndrome. Italian journal of pediatrics 2022 7 48 (1): 121. Zhang Lu, Liu Xiaoliang, Zhao Yunjing, Wang Qingyi, Zhang Yuanyuan, Gao Haiming, Zhang Bijun, Cui Wanting, Zhao Yany |
Deciphering Epigenetic Backgrounds in a Korean Cohort with Beckwith-Wiedemann Syndrome. Annals of laboratory medicine 2022 Nov 42 (6): 668-677. Kim Hwa Young, Shin Choong Ho, Lee Young Ah, Shin Chang Ho, Kim Gu-Hwan, Ko Jung M |
Single nucleotide polymorphism array in genetic evaluation of fetal ultrasound abnormalities: a retrospective follow-up study. American journal of translational research 2022 6 14 (5): 3516-3524. Huang Hailong, Cai Meiying, Xue Huili, Xu Liangpu, Lin |
[Detection rate and clinical significance of regions of homozygosity in prenatal genetic diagnosis]. Zhonghua fu chan ke za zhi 2022 4 57 (4): 271-277. Zhu L F, Zhang H M, Mai L H, Sun X F, Liu W |
Pathogenic/likely pathogenic copy number variations and regions of homozygosity in fetal central nervous system malformations. Archives of gynecology and obstetrics 2022 12 . Zhi Yunxiao, Liu Ling, Cui Shihong, Li Ying, Chen Xiaolin, Che Jia, Han Xiao, Zhao Lanl |
Uniparental disomy screen of Irish rare disorder cohort unmasks homozygous variants of clinical significance in the TMCO1 and PRKRA genes. Frontiers in genetics 2022 13 945296. Molloy B, Jones E R, Linhares N D, Buckley P G, Leahy T R, Lynch B, Knerr I, King M D, Gorman K |
Whole-chromosome arm acquired uniparental disomy in cancer development is a consequence of isochromosome formation. Neoplasia (New York, N.Y.) 2022 1 25 9-17. Tuna Musaffe, Amos Christopher I, Mills Gordon |
ATP7B Gene Variant Profile ?dentified by NGS in Wilson's Disease. Fetal and pediatric pathology 2023 9 1-10. Orhan Gorukmez, Taner Özgür, Ozlem Gorukmez, Ali Top |
Gender bias in fetal malformations: A cross-sectional study in Asian populations. Frontiers in endocrinology 2023 4 14 1146689. Zhang Meixiang, Su Yingchun, Sun Ying- |
Biallelic inactivation of the NF1 tumour suppressor gene in juvenile myelomonocytic leukaemia: Genetic evidence of driver function and implications for diagnostic workup. British journal of haematology 2023 11 . Senthilkumar Ramamoorthy, Dirk Lebrecht, Denny Schanze, Ina Schanze, Ilse Wieland, Geoffroy Andrieux, Patrick Metzger, Maria Hess, Michael H Albert, Arndt Borkhardt, Dorine Bresters, Jochen Buechner, Albert Catala, Valerie De Haas, Michael Dworzak, Miriam Erlacher, Henrik Hasle, Kirsi Jahnukainen, Franco Locatelli, Riccardo Masetti, Jan Stary, Dominik Turkiewicz, Luca Vinci, Marcin W Wlodarski, Ayami Yoshimi, Melanie Boerries, Charlotte M Niemeyer, Martin Zenker, Christian Flot |
Common and distinct patterns of acquired uniparental disomy and homozygous deletions between lung squamous cell carcinomas and lung adenocarcinoma. Neoplasia (New York, N.Y.) 2023 10 45 100932. Musaffe Tuna, Gordon B Mills, Christopher I Am |
Leukemic conversion involving RAS mutations of type 1 CALR-mutated primary myelofibrosis in a patient treated for HCV cirrhosis: a case report. Frontiers in oncology 2023 10 13 1266996. Petruta Gurban, Cristina Mambet, Anca Botezatu, Laura G Necula, Ana I Neagu, Lilia Matei, Ioana M Pitica, Saviana Nedeianu, Mihaela Chivu-Economescu, Coralia Bleotu, Marius Ataman, Gabriela Mocanu, Carmen Saguna, Anca G Pavel, Danae Stambouli, Elise Sepulchre, Gabriela Anton, Carmen C Diaconu, Stefan N Constantines |
Pediatric-type high-grade gliomas with PDGFRA amplification in adult patients with Li-Fraumeni syndrome: clinical and molecular characterization of three cases. Acta neuropathologica communications 2024 4 12 (1): 57. Yuji Kibe, Fumiharu Ohka, Kosuke Aoki, Junya Yamaguchi, Kazuya Motomura, Eiji Ito, Kazuhito Takeuchi, Yuichi Nagata, Satoshi Ito, Nobuhiko Mizutani, Yoshiki Shiba, Sachi Maeda, Tomohide Nishikawa, Hiroki Shimizu, Ryuta Sai |
Contribution of uniparental disomy to fetal growth restriction: a whole-exome sequencing series in a prenatal setting. Scientific reports 2024 1 14 (1): 238. Mengmeng Li, Na Hao, Yulin Jiang, Huili Xue, Yifang Dai, Mingming Wang, Junjie Bai, Yan Lv, Qingwei Qi, Xiya Zh |
Genetic testing for fetal loss of heterozygosity using single nucleotide polymorphism array and whole-exome sequencing. Scientific reports 2024 1 14 (1): 2190. Huili Xue, Aili Yu, Lin Zhang, Lingji Chen, Qun Guo, Min Lin, Na Lin, Xuemei Chen, Liangpu Xu, Hailong Hua |
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- Page last updated:Apr 22, 2024
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