Zobrazeno 1 - 10
of 94
pro vyhledávání: '"Compound heterozygotes"'
Autor:
Abdulrahman Alasiri, Konrad J. Karczewski, Brian Cole, Bao-Li Loza, Jason H. Moore, Sander W. van der Laan, Folkert W. Asselbergs, Brendan J. Keating, Jessica van Setten
Publikováno v:
BioData Mining, Vol 16, Iss 1, Pp 1-10 (2023)
Abstract Background Loss-of-Function (LoF) variants in human genes are important due to their impact on clinical phenotypes and frequent occurrence in the genomes of healthy individuals. The association of LoF variants with complex diseases and trait
Externí odkaz:
https://doaj.org/article/f8e71408467d4ef6916d54391004dd44
Publikováno v:
Clinical Ophthalmology, Vol Volume 15, Pp 3757-3764 (2021)
Gabriel A Guardiola,1 Fabiola Ramos,2 Natalio J Izquierdo,3 Armando L Oliver2 1Department of Medicine, Universidad Central del Caribe School of Medicine, Bayamon, PR, USA; 2Department of Ophthalmology, University of Puerto Rico School of Medicine, Un
Externí odkaz:
https://doaj.org/article/76eaeae56d5a404ebbbaf6df979b7679
Autor:
Wenjie Wang, Jianping Yang, Jinjie Xue, Wenjuan Mu, Xiaogang Zhang, Wang Wu, Mengnan Xu, Yuyan Gong, Yiqian Liu, Yu Zhang, Xiaobing Xie, Weiyue Gu, Jigeng Bai, David S. Cram
Publikováno v:
BMC Medical Genetics, Vol 20, Iss 1, Pp 1-14 (2019)
Abstract Background Tandem mass spectrometry (MS MS) and simple fluorometric assays are currently used in newborn screening programs to detect inborn errors of metabolism (IEM). The aim of the study was to evaluate the clinical utility of exome seque
Externí odkaz:
https://doaj.org/article/7faf6f4bae7e4d36bcd32209dc40ee79
Akademický článek
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Akademický článek
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Akademický článek
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Publikováno v:
Clinical Ophthalmology (Auckland, N.Z.)
Background Bardet-Biedl syndrome is a complex heterogeneous ciliopathy caused by genetic mutations. Although establishing genotype-phenotype correlations has been challenging, some regional variations have been previously reported. Due to its relativ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::116ddcdf70dedd89ce5bf4e13f26460e
https://doi.org/10.2147/opth.s328493
https://doi.org/10.2147/opth.s328493
Autor:
Xiaogang Zhang, Jigeng Bai, Wenjie Wang, Wenjuan Mu, Yiqian Liu, David S. Cram, Jinjie Xue, Jianping Yang, Yuyan Gong, Yu Zhang, Mengnan Xu, Xiaobing Xie, Weiyue Gu, Wang Wu
Publikováno v:
BMC Medical Genetics
BMC Medical Genetics, Vol 20, Iss 1, Pp 1-14 (2019)
BMC Medical Genetics, Vol 20, Iss 1, Pp 1-14 (2019)
Background Tandem mass spectrometry (MS MS) and simple fluorometric assays are currently used in newborn screening programs to detect inborn errors of metabolism (IEM). The aim of the study was to evaluate the clinical utility of exome sequencing as
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a6b331432989d8ebfba33311e06b4eca
https://doi.org/10.1186/s12881-018-0731-5
https://doi.org/10.1186/s12881-018-0731-5
Publikováno v:
Oncotarget
Rigid spine muscular dystrophy 1 (RSMD1) is a neuromuscular disorder, manifested with poor axial muscle strength, scoliosis and neck weakness, and a variable degree of spinal rigidity with an early ventilatory insufficiency which can lead to death by
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0c7b909c0454fc22b8c105d4b06596ac
http://europepmc.org/articles/PMC5356628
http://europepmc.org/articles/PMC5356628
Autor:
Sameera Fatima Qureshi, Pratibha Nallari, Jayaprakash Shenthar, Kumarasamy Thangaraj, Amol P. Jadhav, Altaf Ali, Hygriv B. Rao, Calambur Narasimhan, Ananthapur Venkateshwari, M. P. Jayakrishnan, Princy John
Publikováno v:
Meta Gene
The SCN5A gene encodes for the INa channel implicated in long QT syndrome type-3 (LQTS-type-3). Clinical symptoms of this type are lethal as most patients had a sudden death during sleep. Screening of SCN5A in South Indian cohort by PCR-SSCP analyses
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::12c3b2a32c3678ff94740080be67ea4a
https://doi.org/10.1016/j.mgene.2015.07.010
https://doi.org/10.1016/j.mgene.2015.07.010