Zobrazeno 1 - 10
of 145
pro vyhledávání: '"Elissa Murphy"'
Autor:
Laura M Sack, Lauren Mertens, Elissa Murphy, Laura Hutchinson, Anne B S Giersch, Heather Mason-Suares
Publikováno v:
Clinical Chemistry. 69:583-594
Background Biallelic deletions at 15q15.3, including STRC and CATSPER2, cause autosomal recessive deafness-infertility syndrome (DIS), while biallelic deletions of STRC alone cause nonsyndromic hearing loss. These deletions are among the leading gene
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1285df7897561c1d21707d0b419f6946
https://doi.org/10.1093/clinchem/hvad032
https://doi.org/10.1093/clinchem/hvad032
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 4, Pp n/a-n/a (2020)
Abstract Background RASopathies are a group of disorders caused by disruptions to the RAS‒MAPK pathway. Despite being in the same pathway, Neurofibromatosis Type 1 (NF1) and Legius syndrome (LS) typically present with phenotypes distinct from Noona
Externí odkaz:
https://doaj.org/article/9fbe2bc5222e4e9e97bdc5d015997dd1
Autor:
Elissa Murphy, Ruth A. Heim, Adrian M. Dubuc, Heather Mason-Suares, Kelsey J. McIntyre, Lauren Mertens
Publikováno v:
The Journal of Molecular Diagnostics. 22:1189-1198
Genetic analysis is a critical component in the male infertility workup. For male infertility due to oligospermia/azoospermia, standard guidelines recommend karyotype and Y-chromosome microdeletion analyses. A karyotype is used to identify structural
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d1cde92d807743bfe5bd5ade096ca768
https://doi.org/10.1016/j.jmoldx.2020.06.009
https://doi.org/10.1016/j.jmoldx.2020.06.009
Autor:
Hélène Cao Van, Maria Teresa Carminho-Rodrigues, Marc Abramowicz, Sacha Laurent, Andrea M. Oza, Ariane Paoloni-Giacobino, Jean-Louis Blouin, Frédérique Béna, Michel Guipponi, Anne Vannier, Corinne Gehrig, Thierry Nouspikel, Sami S. Amr, Elissa Murphy
Publikováno v:
Human Mutation (2021)
Hum Mutat
Hum Mutat
Bi-allelic loss-of-function variants of OTOA are a well-known cause of moderate-to-severe hearing loss. Whereas non-allelic homologous recombination-mediated deletions of the gene are well known, gene conversions to pseudogene OTOAP1 have been report
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::14d48cddffad705b11977849c91fb9e7
https://archive-ouverte.unige.ch/unige:148701
https://archive-ouverte.unige.ch/unige:148701
Autor:
Laura Sack, Lauren Mertens, Elissa Murphy, Laura Hutchinson, Anne Giersch, Heather Mason-Suares
Publikováno v:
Genetics in Medicine. 24:S246
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7d14b82cad826b4f3db1b47f0a643803
https://doi.org/10.1016/j.gim.2022.01.425
https://doi.org/10.1016/j.gim.2022.01.425
Publikováno v:
Molecular Genetics and Metabolism. 132:S265-S266
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b9f410b1f2a30b29c4af795659eae3fd
https://doi.org/10.1016/s1096-7192(21)00491-1
https://doi.org/10.1016/s1096-7192(21)00491-1
Publikováno v:
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 8, Iss 4, Pp n/a-n/a (2020)
Molecular Genetics & Genomic Medicine, Vol 8, Iss 4, Pp n/a-n/a (2020)
Background RASopathies are a group of disorders caused by disruptions to the RAS‒MAPK pathway. Despite being in the same pathway, Neurofibromatosis Type 1 (NF1) and Legius syndrome (LS) typically present with phenotypes distinct from Noonan spectru
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b24d3379ac0d22242e9d37a6da15e465
https://pubmed.ncbi.nlm.nih.gov/32107864
https://pubmed.ncbi.nlm.nih.gov/32107864
Autor:
Deborah R. Liptzin, Csaba Galambos, David A. Schwartz, Megan K. Dishop, Miranda E. Kroehl, Marvin I. Schwarz, Alan M. Watson, Christopher M. Evans, Robin R. Deterding, Elissa Murphy
Publikováno v:
Pediatric Pulmonology. 50:1270-1276
Summary Background Mutations in Surfactant Protein C (SFTPC) can lead to fibrotic interstitial lung disease (ILD) with variable phenotypes, especially in children. The sources of phenotype variability are incompletely understood. A common MUC5B promo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e7a96698ae3591bda0d4b89e89c8d813
https://doi.org/10.1002/ppul.23180
https://doi.org/10.1002/ppul.23180