Zobrazeno 1 - 5 of 5 pro vyhledávání: '"John Turocy"'
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Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations
Autor: João Paulo Kitajima, John Turocy, Jamie H. Fisher, Cynthia J. Curry, William B. Dobyns, Fabíola Paoli Monteiro, Larissa Sampaio de Athayde Costa, Robert F. Hevner, Fernando Kok, Erika L. Freitas, Stephen Elliott
Publikováno v: European journal of medical genetics. 63(1)
The Na+/K+- ATPase acts as an ion pump maintaining the essential plasma membrane potential in all mammalian cell types, and is essential for many cellular functions. There are four α isoforms (α1, α2, α3 and α4) with distinct expression patterns
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7be54bc53f0cd270975da20042b1726f
https://pubmed.ncbi.nlm.nih.gov/30690204
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3
Exome sequencing positively identified relevant alterations in more than half of cases with an indication of prenatal ultrasound anomalies
Autor: Christine Kobelka, Donald Basel, Elizabeth C. Chao, Thomas Lowe, Christina Alamillo, John Turocy, Layla Shahmirzadi, Lisa D'Augelli, Sha Tang, Emily Chen, Elaine C. Weltmer, Kelly D. Farwell, Elena Ashkinadze, Zöe Powis
Publikováno v: Prenatal Diagnosis. 35:1073-1078
Objective Exome sequencing is a successful option for diagnosing individuals with previously uncharacterized genetic conditions, however little has been reported regarding its utility in a prenatal setting. The goal of this study is to describe the r
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::dbb8a9ce31e70f3c75736b6fb9326386
https://doi.org/10.1002/pd.4648
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4
Exome sequencing positively identified relevant alterations in more than half of cases with an indication of prenatal ultrasound anomalies
Autor: Christina L, Alamillo, Zöe, Powis, Kelly, Farwell, Layla, Shahmirzadi, Elaine C, Weltmer, John, Turocy, Thomas, Lowe, Christine, Kobelka, Emily, Chen, Donald, Basel, Elena, Ashkinadze, Lisa, D'Augelli, Elizabeth, Chao, Sha, Tang
Publikováno v: Prenatal diagnosis. 35(11)
Exome sequencing is a successful option for diagnosing individuals with previously uncharacterized genetic conditions, however little has been reported regarding its utility in a prenatal setting. The goal of this study is to describe the results fro
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::e42210855627cfb0c44fa10f95887f3d
https://pubmed.ncbi.nlm.nih.gov/26147564
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Plný text Recenzováno Digitální knihovna AV ČR
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