Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Jennifer Richards-Yutz"'
Autor:
Emilie Lalonde, PhD, Kathryn Ewens, PhD, Jennifer Richards-Yutz, MS, Jessica Ebrahimzedeh, MS, Mizue Terai, PhD, Carin F. Gonsalves, MD, Takami Sato, PhD, MD, Carol L. Shields, MD, Arupa Ganguly, PhD
Publikováno v:
Ophthalmology Science, Vol 2, Iss 2, Pp 100121- (2022)
Purpose: To evaluate the clinical relevance of low-frequency copy number aberrations (CNAs) in uveal melanoma (UM) and to discern residual genomic and clinical heterogeneity within established molecular subtypes based on genome-wide CNA profiling of
Externí odkaz:
https://doaj.org/article/10b3f894e2074e7c9121e87ed795b0f6
Autor:
Emilie Lalonde, Kathryn Ewens, Jennifer Richards-Yutz, Jessica Ebrahimzedeh, Mizue Terai, Carin F. Gonsalves, Takami Sato, Carol L. Shields, Arupa Ganguly
Publikováno v:
Cancer Genetics. :29-30
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c7ccce1c81210744db8cc8fd9be1f35b
https://doi.org/10.1016/j.cancergen.2022.10.095
https://doi.org/10.1016/j.cancergen.2022.10.095
Autor:
Arupa Ganguly, Jennifer M. Kalish, Kelly A. Duffy, Samuel W. Baker, Matthew A. Deardorff, Jennifer Richards-Yutz
Publikováno v:
J Med Genet
BackgroundBeckwith-Wiedemann Syndrome (BWS) is characterised by overgrowth and tumour predisposition. While multiple epigenetic and genetic mechanisms cause BWS, the majority are caused by methylation defects in imprinting control regions on chromoso
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b590216f7fa3b3b5fce9446b8cea38ae
https://doi.org/10.1136/jmedgenet-2019-106498
https://doi.org/10.1136/jmedgenet-2019-106498
Autor:
Jennifer M. Kalish, Christina X Gonzalez-Gandolfi, Evan R Hathaway, Arupa Ganguly, Jennifer L. Cohen, Kelly A. Duffy, Julie D. Kaplan, Matthew A. Deardorff, Jennifer Richards-Yutz, Brian J Sajorda, Andrew T. Gunter
Publikováno v:
Am J Med Genet A
Beckwith-Wiedemann syndrome (BWS) is an overgrowth disorder with a heterogeneous phenotypic spectrum. There is an increased prevalence of monozygotic twinning in BWS. Given the epigenetic nature and phenotypic spectrum that defines BWS, twins are oft
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f03124c045f2c36819c8c34c4480305
https://doi.org/10.1002/ajmg.a.61164
https://doi.org/10.1002/ajmg.a.61164
Autor:
Keith Rafferty, Tapan Ganguly, Richard Grant, Arupa Ganguly, Jennifer M. Kalish, Jennifer Marie Rosado, Erik Toorens, Emilie Lalonde, Jennifer Richards-Yutz, Jessica Ebrahimzadeh, Matthew A. Deardorff, Erica Schindewolf
Publikováno v:
Molecular Genetics & Genomic Medicine
Background Somatic overgrowth conditions, including Proteus syndrome, Sturge–Weber syndrome, and PIK3CA‐related overgrowth spectrum, are caused by post‐zygotic pathogenic variants, result in segmental mosaicism, and give rise to neural, cutaneo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::759e173e8c5ced33cb1b54f0ee6f376e
http://europepmc.org/articles/PMC6418364
http://europepmc.org/articles/PMC6418364
Autor:
Arupa Ganguly, Jennifer Richards-Yutz, Miguel A. Guzman, Nitin Marwaha, Matthew J. Pierson, Jessica Ebrahimzadeh, Jeroen Coppens, Jacqueline R. Batanian
Publikováno v:
Journal of Cutaneous Pathology. 43:1186-1196
Melanocytoma are the melanocytic tumors originating from leptomeningeal melanocytes. Melanocytomas are commonly seen in the central nervous system (CNS) and are often associated with neurocutaneous melanosis (NCM). However, simultaneous presentation
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e5f4fb5fc9b29152c59a692b48a27248
https://doi.org/10.1111/cup.12808
https://doi.org/10.1111/cup.12808
Publikováno v:
BMC Cancer
BMC Cancer, Vol 18, Iss 1, Pp 1-12 (2018)
BMC Cancer, Vol 18, Iss 1, Pp 1-12 (2018)
Background Germline mutations in BAP1 have been associated with BAP1-Tumor Predisposition Syndrome (BAP1-TPDS), a predisposition to multiple tumors within a family that includes uveal melanoma (UM), cutaneous melanoma, malignant mesothelioma and rena
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::05679c1aae1caad81e157ec39be3da8a
https://doi.org/10.1186/s12885-018-5079-x
https://doi.org/10.1186/s12885-018-5079-x
Autor:
Jennifer Richards-Yutz, Tricia R. Bhatti, Carol L. Shields, Kathryn G. Ewens, Kimberly Moran, Arupa Ganguly, Ralph C. Eagle
Publikováno v:
Cancer Medicine
A small, but unique subgroup of retinoblastoma has been identified with no detectable mutation in the retinoblastoma gene (RB1) and with high levels of MYCN gene amplification. This manuscript investigated alternate pathways of inactivating pRb, the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d95429886905b8cd0efa89bf544e5bc7
https://pubmed.ncbi.nlm.nih.gov/28211617
https://pubmed.ncbi.nlm.nih.gov/28211617
Publikováno v:
Human Genetics. 128:61-77
Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant, vascular disease hallmarked by the development of arteriovenous malformations (AVMs). Germline mutations in two genes, endoglin (ENG) and activin receptor like kinase 1 (ACVRL1), h
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cedf39c6fcea5e570fc0ce9aeb01e901
https://doi.org/10.1007/s00439-010-0825-4
https://doi.org/10.1007/s00439-010-0825-4
Autor:
Jennifer Richards-Yutz, Juliana Purrazzella, Tapan Ganguly, Carol L. Shields, Peter A. Kanetsky, Kathryn G. Ewens, Arupa Ganguly
Publikováno v:
Investigative ophthalmologyvisual science. 55(8)
PURPOSE Somatic mutations in GNAQ, GNA11, SF3B1, EIF1AX, and BAP1 have been identified in uveal melanoma (UM). The aim of this study was to determine whether mutations in these genes in primary tumors were associated with metastases in individuals di
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b0262dad90c4c9283697282bb2e6076
https://pubmed.ncbi.nlm.nih.gov/25143043
https://pubmed.ncbi.nlm.nih.gov/25143043