Zobrazeno 1 - 10
of 24
pro vyhledávání: '"Christie M. Buchovecky"'
Autor:
Aliaa H. Abdelhakim, Avinash V. Dharmadhikari, Sara D. Ragi, Jose Ronaldo Lima de Carvalho, Christine L. Xu, Amanda L. Thomas, Christie M. Buchovecky, Mahesh M. Mansukhani, Ali B. Naini, Jun Liao, Vaidehi Jobanputra, Irene H. Maumenee, Stephen H. Tsang
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-12 (2020)
Abstract Background Primary coenzyme Q10 deficiency is a rare disease that results in diverse and variable clinical manifestations. Nephropathy, myopathy and neurologic involvement are commonly associated, however retinopathy has also been observed w
Externí odkaz:
https://doaj.org/article/558d0ed72fd84caf809686f06ec0780f
Autor:
Mythily, Ganapathi, Christie M, Buchovecky, Fernando, Cristo, Priyanka, Ahimaz, Carrie, Ruzal-Shapiro, Karen, Wou, José M, Inácio, Alejandro, Iglesias, José A, Belo, Vaidehi, Jobanputra
Publikováno v:
Cold Spring Harbor molecular case studies. 8(7)
The majority of heterotaxy cases do not obtain a molecular diagnosis, although pathogenic variants in more than 50 genes are known to cause heterotaxy. A heterozygous missense variant in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c57c6dad00d2274a78b1bb94d8957e38
https://pubmed.ncbi.nlm.nih.gov/36316122
https://pubmed.ncbi.nlm.nih.gov/36316122
Autor:
Christie M. Buchovecky, Corette B. Parker, George R. Saade, Robert L. Goldenberg, Natalie Lippa, Halie Holmes, Andrew S. Allen, Joseph Hostyk, Mythily Ganapathi, Jessica L. Giordano, Vanessa Thorsten, Avinash V. Dharmadhikari, Halit Pinar, Ronald J. Wapner, Robert M. Silver, Uma M. Reddy, Jun Liao, David Goldstein, Anya Revah-Politi, Vimla Aggarwal, Carol J. R. Hogue, Kate E. Stanley, Gundula Povysil, Donald J. Dudley, Amanda Thomas, Michelle E. Ernst
Publikováno v:
New England Journal of Medicine. 383:1107-1116
Background In the majority of cases, the cause of stillbirth remains unknown despite detailed clinical and laboratory evaluation. Approximately 10 to 20% of stillbirths are attributed to c...
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52253f0f7b7b7b3d470c946ad78874ae
https://doi.org/10.1056/nejmoa1908753
https://doi.org/10.1056/nejmoa1908753
Autor:
Hua Zhou, Elizabeth Shane, Mariana Bucovsky, David W. Dempster, Joseph A. Hostyk, Robert R. Recker, Christie M. Buchovecky, Julie Stubby, Adi Cohen, Mafo Kamanda-Kosseh, Evan H. Baugh, David Goldstein, Joan M. Lappe, Vimla Aggarwal
Publikováno v:
Bone
Osteoporosis in premenopausal women with intact gonadal function and no known secondary cause of bone loss is termed idiopathic osteoporosis (IOP). Women with IOP diagnosed in adulthood have profound bone structural deficits and often report adult an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8dea2b694a3048dcfac3688b4e6dd420
https://europepmc.org/articles/PMC8671293/
https://europepmc.org/articles/PMC8671293/
Autor:
Jessica L. Giordano, Mythily Ganapathi, Michelle E. Ernst, Ronald J. Wapner, Jun Liao, Gundula Povysil, Halit Pinar, Avinash V. Dharmadhikari, Anya Revah-Politi, Amanda Thomas, Natalie Lippa, Robert M. Silver, Vimla Aggarwal, Joseph Hostyk, David Goldstein, Halie Holmes, Andrew S. Allen, Robert L. Goldenberg, Corette B. Parker, Carol J. R. Hogue, Donald J. Dudley, Kate E. Stanley, Christie M. Buchovecky, Uma M. Reddy, George R. Saade, Vanessa Thorsten
Publikováno v:
Obstetrical & Gynecological Survey. 76:79-81
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9b4c05737562235c2a191f2b0b5047b2
https://doi.org/10.1097/01.ogx.0000733520.96334.74
https://doi.org/10.1097/01.ogx.0000733520.96334.74
Autor:
Stephen J. Wilson, Panagiotis Katsonis, Young Won Kim, Christie M. Buchovecky, Amanda Koire, Olivier Lichtarge
Publikováno v:
Sci Transl Med
Genotype-phenotype relationships shape health and population fitness but remain difficult to predict and interpret. Here, we apply an evolutionary action method to de novo missense variants in whole-exome sequences of individuals with autism spectrum
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::97c7e35ae8a49d906cd91c5ccad9ee93
https://europepmc.org/articles/PMC8916821/
https://europepmc.org/articles/PMC8916821/
Autor:
Susanne Morlot, Juan Cabezas-Herrera, Teresa M Lee, Bernd Auber, Alexander von Gise, Holger Thiele, Arne Zibat, Mythily Ganapathi, Barry Honig, Francisco Martínez-Azorín, Yun Li, Peter Burfeind, Christie M. Buchovecky, María Sabater-Molina, Moisés Sorlí-García, Lukas Cyganek, Loukas Argyriou, Donald Petrey, Markus D. Siegelin, Alejandro D. Iglesias, Gerd Hasenfuss, Bernd Wollnik, Priyanka Ahimaz, Gökhan Yigit
Publikováno v:
Human Genetics
Dilated cardiomyopathy (DCM) belongs to the most frequent forms of cardiomyopathy mainly characterized by cardiac dilatation and reduced systolic function. Although most cases of DCM are classified as sporadic, 20–30% of cases show a heritable patt
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c6ff6969eec0fcd4973257f520718117
https://pubmed.ncbi.nlm.nih.gov/32514796
https://pubmed.ncbi.nlm.nih.gov/32514796
Suppressor mutations in Mecp2-null mice implicate the DNA damage response in Rett syndrome pathology
Autor:
Julie Ruston, Jay Shendure, Christie M. Buchovecky, Elif Acar, Marijke Schrock, Adebola Enikanolaiye, Christine Taylor, Monica J. Justice, Rong Zeng
Publikováno v:
Genome Res
Mutations in X-linked methyl-CpG-binding protein 2 (MECP2) cause Rett syndrome (RTT). To identify functional pathways that could inform therapeutic entry points, we carried out a genetic screen for secondary mutations that improved phenotypes in Mecp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::50f77973c66cfc17bc8b7b1b98551f69
https://europepmc.org/articles/PMC7197480/
https://europepmc.org/articles/PMC7197480/
Autor:
Ilya B. Novikov, Tajhal Dayaram, Neha Parikh, Griff Weber, Angela D. Wilkins, Scott Spangler, Sam Regenbogen, Ying Chen, Linda Kato, Ana Lelescu, Shenghua Bao, Benjamin J. Bachman, Byung-Kwon Choi, Houyin Zhang, Anbu Karani Adikesavan, Curtis R. Pickering, Lawrence A. Donehower, Meena Nagarajan, Christie M. Buchovecky, Kenneth L. Scott, Jacques L. Labrie, Olivier Lichtarge, Sung Yun Jung, Peter J. Haas, Stephen K. Boyer
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America
Significance We adapted natural language processing to the biological literature and demonstrated end-to-end automated knowledge discovery by exploring subtle word connections. General text mining scanned 21 million publication abstracts and selected
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::77d9a167c44ea6895d38cb1e4365a2af
https://doi.org/10.1073/pnas.1806643115
https://doi.org/10.1073/pnas.1806643115
Autor:
Gabrielle Fridman, Galaxy Y. Cho, Stephen H. Tsang, Christie M. Buchovecky, Jesse D. Sengillo
Publikováno v:
Ophthalmic Surgery, Lasers and Imaging Retina. 49:548-552
The majority of X-linked retinitis pigmentosa (XLRP) is due to mutations in the retinitis pigmentosa GTPase regulator ( RPGR ) gene. Determining the pathogenicity of novel variants is important for enrollment of patients into gene therapy trials. Seq
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::047c7c4f982f291aee5f56ef5ed0c8f3
https://doi.org/10.3928/23258160-20180628-14
https://doi.org/10.3928/23258160-20180628-14