Human Genome Epidemiology Literature Finder
Records 1 - 13 (of 13 Records) |
Query Trace: Abnormalities and CHD7[original query] |
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Exon copy number alterations of the CHD7 gene are not a major cause of CHARGE and CHARGE-like syndrome. European journal of medical genetics 0 51 (5): 417-25. Bergman Jorieke E H, de Wijs Ilse, Jongmans Marjolijn C J, Admiraal Ronald J, Hoefsloot Lies H, van Ravenswaaij-Arts Conny M |
Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome. American journal of medical genetics. Part A 2010 Mar 152A (3): 674-86. Zentner Gabriel E, Layman Wanda S, Martin Donna M, Scacheri Peter |
The cardiac phenotype in patients with a CHD7 mutation. Circulation. Cardiovascular genetics 2013 Jun 6 (3): 248-54. Corsten-Janssen Nicole, Kerstjens-Frederikse Wilhelmina S, du Marchie Sarvaas Gideon J, Baardman Maria E, Bakker Marian K, Bergman Jorieke E H, Hove Hanne D, Heimdal Ketil R, Rustad Cecilie F, Hennekam Raoul C M, Hofstra Robert M W, Hoefsloot Lies H, Van Ravenswaaij-Arts Conny M A, Kapusta Liv |
Congenital arch vessel anomalies in CHARGE syndrome: A frequent feature with risk for co-morbidity. International journal of cardiology. Heart & vasculature 2016 Sep 12 21-25. Corsten-Janssen Nicole, van Ravenswaaij-Arts Conny M A, Kapusta Liv |
Imaging of Clival Hypoplasia in CHARGE Syndrome and Hypothesis for Development: A Case-Control Study. AJNR. American journal of neuroradiology 2018 9 39 (10): 1938-1942. de Geus C M, Bergman J E H, van Ravenswaaij-Arts C M A, Meiners L |
Role of Targeted Next Generation Sequencing in the Etiological Work-Up of Congenitally Deaf Children. Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 2018 Jul 39 (6): 732-738. Boudewyns An, van den Ende Jenneke, Sommen Manou, Wuyts Wim, Peeters Nils, Van de Heyning Paul, Van Camp G |
Feeding difficulty is the dominant feature in 12 Chinese newborns with CHD7 pathogenic variants. BMC medical genetics 2019 May 20 (1): 93. Chen Xiang, Yan Kai, Gao Yanyan, Wang Huijun, Chen Guoqiang, Wu Bingbing, Qin Qian, Yang Lin, Zhou Wenh |
High frequency of CHD7 mutations in congenital hypogonadotropic hypogonadism. Scientific reports 2019 2 9 (1): 1597. Gonçalves Catarina Inês, Patriarca Filipa Marina, Aragüés José Maria, Carvalho Davide, Fonseca Fernando, Martins Sofia, Marques Olinda, Pereira Bernardo Dias, Martinez-de-Oliveira José, Lemos Manuel Carl |
Phenotypic Spectrum of Idiopathic Hypogonadotropic Hypogonadism Patients With CHD7 Variants From a Large Chinese Cohort. The Journal of clinical endocrinology and metabolism 2019 11 105 (5): . Li Jia-Da, Wu Jiayu, Zhao Yaguang, Wang Xinying, Jiang Fang, Hou Qiao, Chen Dan-Na, Zheng Ruizhi, Yu Renhe, Zhou Wei, Men Meich |
A prospective study on rapid exome sequencing as a diagnostic test for multiple congenital anomalies on fetal ultrasound. Prenatal diagnosis 2020 7 40 (10): 1300-1309. Corsten-Janssen Nicole, Bouman Katelijne, Diphoorn Janouk C D, Scheper Arjen J, Kinds Rianne, El Mecky Julia, Breet Hanna, Verheij Joke B G M, Suijkerbuijk Ron, Duin Leonie K, Manten Gwendolyn T R, van Langen Irene M, Sijmons Rolf H, Sikkema-Raddatz Birgit, Westers Helga, van Diemen Cleo |
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 |
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 |
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- Page last updated:Apr 22, 2024
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