Zobrazeno 1 - 10
of 31
pro vyhledávání: '"Elissa Murphy"'
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:
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
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
Autor:
Anna L. Peljto, Elissa Murphy, David A. Schwartz, Jung Su Lee, Annie Pardo, Wonjun Ji, Moisés Selman, Laura Tucker, Ivana V. Yang, Dong Soon Kim, Tasha E. Fingerlin, Marvin I. Schwarz
Publikováno v:
Chest. 147:460-464
BACKGROUND Polymorphisms in the MUC5B promoter, TOLLIP , and nine additional genetic loci have been associated with idiopathic pulmonary fibrosis (IPF) within non-Hispanic white populations. It is unknown whether these variants account for risk of IP
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96b496f434a4276cdc27662bee642474
https://doi.org/10.1378/chest.14-0867
https://doi.org/10.1378/chest.14-0867
Autor:
Elissa Murphy, Heidi L. Rehm, Ahmad N. Abou Tayoun, Rojeen Niazi, Minjie Luo, Elizabeth Duffy, Sami S. Amr, Jorune Balciuniene
Publikováno v:
Clinical chemistry. 64(4)
BACKGROUND Copy number variants (CNVs) can substantially contribute to the pathogenic variant spectrum in several disease genes. The detection of this type of variant is complicated in genes with high homology to other genomic sequences, yet such gen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::310eeadccfe4c7144b3a1cd2c1b829df
https://pubmed.ncbi.nlm.nih.gov/29339441
https://pubmed.ncbi.nlm.nih.gov/29339441