Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 75 Records) |
Query Trace: CHD7[original query] |
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Genetic Variants of CHD7 Are Associated with Adolescent Idiopathic Scoliosis. Spine 2020 Dec . Wu Zhichong, Dai Zhicheng, Yuwen Wang, Liu Zhen, Qiu Yong, Cheng Jack Chun-Yiu, Zhu Zezhang, Xu Leil |
Whole exome sequencing and trio analysis to broaden the variant spectrum of genes in idiopathic hypogonadotropic hypogonadism. Asian journal of andrology 2020 11 23 (3): 288-293. Zhang Jian, Tang Shu-Yan, Zhu Xiao-Bin, Li Peng, Lu Jian-Qi, Cong Jiang-Shan, Wang Ling-Bo, Zhang Feng, Li Zhe |
Genome-Wide Association Studies of Schizophrenia and Bipolar Disorder in a Diverse Cohort of US Veterans.
Schizophrenia bulletin 2020 Nov . Bigdeli Tim B, Fanous Ayman H, Li Yuli, Rajeevan Nallakkandi, Sayward Frederick, Genovese Giulio, Gupta Rishab, Radhakrishnan Krishnan, Malhotra Anil K, Sun Ning, Lu Qiongshi, Hu Yiming, Li Boyang, Chen Quan, Mane Shrikant, Miller Perry, Cheung Kei-Hoi, Gur Raquel E, Greenwood Tiffany A, Braff David L, , Achtyes Eric D, Buckley Peter F, Escamilla Michael A, Lehrer Douglas, Malaspina Dolores P, McCarroll Steven A, Rapaport Mark H, Vawter Marquis P, Pato Michele T, Pato Carlos N, , Zhao Hongyu, Kosten Thomas R, Brophy Mary, Pyarajan Saiju, Shi Yunling, O'Leary Timothy J, Gleason Theresa, Przygodzki Ronald, Muralidhar Sumitra, Gaziano J Michael, , Huang Grant D, Concato John, Siever Larry J, Aslan Mihaela, Harvey Philip |
Epigenetic Markers Are Associated With Differences in Isocyanate Biomarker Levels in Exposed Spray-Painters. Frontiers in genetics 2021 8 12 700636. Taylor Laura W, French John E, Robbins Zachary G, Nylander-French Leena |
Single gene variants causing deafness in Asian Indians. Journal of genetics 2021 7 100 . Panigrahi Inusha, Kumari Divya, Anil Kumar B |
Correlation Between the Evolution of Somatic Alterations During Lymphatic Metastasis and Clinical Outcome in Penile Squamous Cell Carcinoma. Frontiers in oncology 2021 6 11 641869. Cao Jian, Yang Chun-He, Han Wei-Qing, Xie Yu, Liu Zhi-Zhong, Jiang Shu-Su |
An Intronic Variant of CHD7 Identified in Autism Patients Interferes with Neuronal Differentiation and Development. Neuroscience bulletin 2021 5 37 (8): 1091-1106. Zhang Ran, He Hui, Yuan Bo, Wu Ziyan, Wang Xiuzhen, Du Yasong, Chen Yuejun, Qiu Zilo |
Exploring the Genetic Diversity of Isolated Hypogonadotropic Hypogonadism and Its Phenotypic Spectrum: A Case Series. Journal of reproduction & infertility 2021 3 22 (1): 38-46. Danda Vijay Sheker Reddy, Paidipelly Srinivas Rao, Verepula Madhavi, Lodha Piyush, Thaduri Krishna Reddy, Konda Chaitanya, Ruhi Aps |
Clinical and molecular features of idiopathic hypogonadotropic hypogonadism in Taiwan: A single center experience. Journal of the Formosan Medical Association = Taiwan yi zhi 2021 3 121 (1 Pt 1): 218-226. Cho Chih-Yi, Tsai Wen-Yu, Lee Cheng-Ting, Liu Shih-Yao, Huang Shu-Yuan, Chien Yin-Hsiu, Hwu Wuh-Liang, Lee Ni-Chung, Tung Yi-Chi |
[Genotype and phenotype analysis of neonates with neonatal encephalopathy complicated with perinatal hypoxic event]. Zhonghua er ke za zhi = Chinese journal of pediatrics 2021 3 59 (4): 280-285. Xiao T T, Yang L, Wu B B, Peng X M, Wang H J, Cheng G Q, Wang L S, Cao Y, Hu L Y, Zhou W |
Genomic analysis of childhood hearing loss in the Yoruba population of Nigeria. European journal of human genetics : EJHG 2021 Nov . Adeyemo Adebolajo, Faridi Rabia, Chattaraj Parna, Yousaf Rizwan, Tona Risa, Okorie Samuel, Bharadwaj Thashi, Nouel-Saied Liz M, Acharya Anushree, Schrauwen Isabelle, Morell Robert J, Leal Suzanne M, Friedman Thomas B, Griffith Andrew J, Roux Isabel |
Whole Exome Sequencing in Coloboma/Microphthalmia: Identification of Novel and Recurrent Variants in Seven Genes. Genes 2021 1 12 (1): . Haug Patricia, Koller Samuel, Maggi Jordi, Lang Elena, Feil Silke, Wlodarczyk Agnès, Bähr Luzy, Steindl Katharina, Rohrbach Marianne, Gerth-Kahlert Christina, Berger Wolfga |
Genetic spectrum of Kallmann syndrome: Single-center experience and systematic review. Clinical endocrinology 2022 9 97 (6): 804-813. Patil Virendra A, Lila Anurag Ranjan, Shah Nalini, Arya Sneha, Sarathi Vijaya, Shah Ravikumar, Jadhav Swati S, Memon Saba Samad, Karlekar Manjiri, Bandgar Tush |
Novel Genomic Variants, Atypical Phenotypes and Evidence of a Digenic/Oligogenic Contribution to Disorders/Differences of Sex Development in a Large North African Cohort. Frontiers in genetics 2022 9 13 900574. Zidoune Housna, Ladjouze Asmahane, Chellat-Rezgoune Djalila, Boukri Asma, Dib Scheher Aman, Nouri Nassim, Tebibel Meryem, Sifi Karima, Abadi Noureddine, Satta Dalila, Benelmadani Yasmina, Bignon-Topalovic Joelle, El-Zaiat-Munsch Maeva, Bashamboo Anu, McElreavey K |
Identification of novel susceptibility genes for non-syndromic cleft lip with or without cleft palate using NGS-based multigene panel testing. Molecular genetics and genomics : MGG 2022 Jul . D?browska Justyna, Biedziak Barbara, Szponar-?urowska Anna, Budner Margareta, Jagodzi?ski Pawe? P, P?oski Rafa?, Mostowska Adrian |
Correlation Analysis of Genotypes and Phenotypes in Chinese Male Pediatric Patients With Congenital Hypogonadotropic Hypogonadism. Frontiers in endocrinology 2022 13 846801. Wang Yi, Qin Miao, Fan Lijun, Gong Chunx |
High prevalence of deleterious mutations in concomitant nonsyndromic cleft and outflow tract heart defects. American journal of medical genetics. Part A 2022 4 188 (7): 2082-2095. Munabi Naikhoba C O, Mikhail Shady, Toubat Omar, Webb Michelle, Auslander Allyn, Sanchez-Lara Pedro A, Manojlovic Zarko, Schmidt Ryan J, Craig David, Magee William P, Kumar Subramanyan R |
Predictive value of single-nucleotide polymorphisms in curve progression of adolescent idiopathic scoliosis. European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society 2022 4 31 (9): 2311-2325. Wang Wengang, Chen Tailong, Liu Yibin, Wang Songsong, Yang Ningning, Luo Mi |
Overlap between genetic variants associated with schizophrenia spectrum disorders and intelligence quotient: a systematic review. Journal of psychiatry & neuroscience : JPN 2022 11 47 (6): E393-E408. Murillo-García Nancy, Barrio-Martínez Sara, Setién-Suero Esther, Soler Jordi, Papiol Sergi, Fatjó-Vilas Mar, Ayesa-Arriola Ro |
De novo Splice Site Mutation of the CHD7 Gene in a Chinese Patient with Typical CHARGE Syndrome. ORL; journal for oto-rhino-laryngology and its related specialties 2022 1 84 (5): 417-424. Wang Shujuan, Lin Ying, Liang Pengfei, Li Qiong, Li Wei, Wang Zhaoxia, Wang Jian, Chen Jun, Zha Dingj |
Classification of CHD7 Rare Variants in Chinese Congenital Hypogonadotropic Hypogonadism Patients and Analysis of Their Clinical Characteristics. Frontiers in genetics 2022 1 12 770680. Sun Bang, Wang Xi, Mao Jiangfeng, Zhao Zhiyuan, Zhang Wei, Nie Min, Wu Xuey |
CHD7 variants associated with hearing loss and enlargement of the vestibular aqueduct. Human genetics 2023 9 . Isabelle Roux, Cristina Fenollar-Ferrer, Hyun Jae Lee, Parna Chattaraj, Ivan A Lopez, Kyungreem Han, Keiji Honda, Carmen C Brewer, John A Butman, Robert J Morell, Donna M Martin, Andrew J Griffi |
The genetics of autism spectrum disorder in an East African familial cohort. Cell genomics 2023 7 3 (7): 100322. Islam Oguz Tuncay, Darlene DeVries, Ashlesha Gogate, Kiran Kaur, Ashwani Kumar, Chao Xing, Kimberly Goodspeed, Leah Seyoum-Tesfa, Maria H Chahro |
Genetic reanalysis of patients with a difference of sex development carrying the NR5A1/SF-1 variant p.Gly146Ala has discovered other likely disease-causing variations. PloS one 2023 7 18 (7): e0287515. Idoia Martinez de Lapiscina, Chrysanthi Kouri, Josu Aurrekoetxea, Mirian Sanchez, Rawda Naamneh Elzenaty, Kay-Sara Sauter, Núria Camats, Gema Grau, Itxaso Rica, Amaia Rodriguez, Amaia Vela, Alicia Cortazar, Maria Concepción Alonso-Cerezo, Pilar Bahillo, Laura Bertholt, Isabel Esteva, Luis Castaño, Christa E Flü |
Genetic Analysis of Patients with Congenital Hypogonadotropic Hypogonadism: A Case Series. International journal of molecular sciences 2023 4 24 (8): . Rossella Cannarella, Carmelo Gusmano, Rosita A Condorelli, Andrea Bernini, Jurgen Kaftalli, Paolo Enrico Maltese, Stefano Paolacci, Astrit Dautaj, Giuseppe Marceddu, Matteo Bertelli, Sandro La Vignera, Aldo E Caloge |
Utility of whole-exome sequencing for patients with multiple congenital anomalies with or without intellectual disability/developmental delay in East Asia population. Molecular genetics & genomic medicine 2023 2 e2160. Hsu Rai-Hseng, Lee Chen-Hao, Chien Yin-Hsiu, Lin Shuan-Pei, Hung Miao-Zi, Chen Nai-Chi, Lin Yi-Lin, Hwu Wuh-Liang, Lee Ni-Chu |
The Genetic Background of Hearing Loss in Patients with EVA and Cochlear Malformation. Genes 2023 2 14 (2): . Ba?dyga Natalia, Ozi?b?o Dominika, Gan Nina, Furmanek Mariusz, Leja Marcin L, Skar?y?ski Henryk, O?dak Moni |
Prenatal diagnosis of fetal digestive system malformations and pregnancy outcomes at a tertiary referral center in Fujian, China: A retrospective study. Heliyon 2023 11 9 (11): e21546. Bin Liang, Fang Yang, Hailong Huang, Zhaozhen Liu, Qingqiang Ji, Yan Wang, Xiaoqing Wu, Yuan Lin, Lanting Xie, Wantong Zhao, Hua Cao, Liangpu Xu, Na L |
Copy number variants landscape of multiple cancers and clinical applications based on NGS gene panel. Annals of medicine 2023 11 55 (2): 2280708. Kangpeng Yan, Li Niu, Boyu Wu, Chongwu He, Lei Deng, Chuan Chen, Zhangzhang Lan, Chao Lin, Weihua Kuang, Huihong Lin, Jun Zou, Wenyong Zhang, Zhiqiang L |
Mutations in genes related to myocyte contraction and ventricular septum development in non-syndromic tetralogy of Fallot. Frontiers in cardiovascular medicine 2023 10 10 1249605. Drayton C Harvey, Riya Verma, Brandon Sedaghat, Brooke E Hjelm, Sarah U Morton, Jon G Seidman, S Ram Kum |
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- Page last updated:Apr 29, 2024
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