Zobrazeno 1 - 10
of 23
pro vyhledávání: '"Kate, Mowrey"'
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Malan syndrome is an autosomal dominant disorder caused by pathogenic variants in NFIX with less than 100 cases reported thus far. NFIX is important for stem cell proliferation, quiescence, and differentiation during development and its protein plays
Externí odkaz:
https://doaj.org/article/7db57b7c49ca46bcb3bd8f3520ebc309
Publikováno v:
Clinical Case Reports, Vol 9, Iss 3, Pp 1629-1633 (2021)
Abstract Two new cases of 16q22.3q23.3 Duplication syndrome demonstrate that phenotype can vary from severely affected to mild psychiatric concerns, even within the same family and identical duplications.
Externí odkaz:
https://doaj.org/article/69b5abd8e0ad4e1f98d60e9363902d3e
Autor:
Mariana Lopez Martinolich, Hope Northrup, Pedro Mancias, Paul Hillman, Kavya Rao, Kate Mowrey
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 10, Iss 3, Pp n/a-n/a (2022)
Abstract Background Nance‐Horan syndrome (NHS) is a rare X‐linked genetic disorder characterized by ophthalmologic and dental anomalies as well as dysmorphic facies. The clinical phenotype in males includes congenital cataracts, vision loss, micr
Externí odkaz:
https://doaj.org/article/b07e123e7afe44eba40fab20502b987b
Publikováno v:
Frontiers in Reproductive Health, Vol 4 (2022)
PurposeThe purpose of our study is to expand the knowledge regarding intrinsic reproductive dysfunction in females with TSC and to explore the impact of mTOR inhibitors (mTORi) on menstrual irregularity in the Tuberous Sclerosis Complex (TSC) communi
Externí odkaz:
https://doaj.org/article/cf4e22c638524a8c9ef6c43c671eeeed
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 7, Pp n/a-n/a (2021)
Abstract Background Mitochondrial membrane protein‐associated neurodegeneration (MPAN) is a genetic neurodegenerative condition previously thought to be inherited only in an autosomal recessive pattern through biallelic pathogenic variants in C19or
Externí odkaz:
https://doaj.org/article/79ca1431f7dd458b82ea7a77dc4e5cff
Autor:
Kate Mowrey, Hope Northrup, Peyton Rougeau, S. Shahrukh Hashmi, Darcy A. Krueger, Daniel Ebrahimi-Fakhari, Alexander J. Towbin, Andrew T. Trout, Jamie K. Capal, David Neal Franz, David Rodriguez-Buritica
Publikováno v:
Frontiers in Neurology, Vol 12 (2021)
Background: Tuberous sclerosis complex (TSC) is a genetic condition that causes benign tumors to grow in multiple organ systems. Nonfunctional pancreatic neuroendocrine tumors (PNETs) are a rare clinical feature of TSC with no specific guidelines out
Externí odkaz:
https://doaj.org/article/7e54f14f8031455fac2c2e372cf2a540
Autor:
Jackson Green, Jessica Nye, Kelly Turner, Matthew R Greives, Kate Mowrey, Adelaide A Herbert, Autumn Atkinson
Publikováno v:
SKIN The Journal of Cutaneous Medicine. 7:608-611
While giant congenital melanocytic nevi are rare lesions in the pediatric population, malignant transformation within these lesions remains even more rare. A 22-month-old male patient developed a 6.5 mm Clark’s Level IV melanoma within a giant cong
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e92d9d9c31df79d6fc4cb4b0e317a3e5
https://doi.org/10.25251/skin.7.1.9
https://doi.org/10.25251/skin.7.1.9
Autor:
Kathleen, Shields, Jennifer, Czerwinski, Tracie, Dauwe, Syed, Hashmi, Paul, Hillman, Kate, Mowrey, Kathryn, Gunther
Publikováno v:
The Journal of Continuing Education in Nursing. 54:16-24
Background Many infants admitted to the neonatal intensive care unit (NICU) have genetic conditions. Previous research has shown that gaps exist in the genetics knowledge of nurses and that they lack comfort applying genetics information to clinical
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f808a82e9da9f4fb93719807a2baa36d
https://doi.org/10.3928/00220124-20221207-06
https://doi.org/10.3928/00220124-20221207-06
Autor:
Kate Mowrey, Mary Kay Koenig, Charles A. Szabo, Joshua Samuels, Shannon Mulligan, Deborah A. Pearson, Hope Northrup
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 7, Pp n/a-n/a (2020)
Abstract Background Tuberous sclerosis complex (TSC) is an autosomal dominant genetic condition that involves abnormalities of the skin, hamartomas in the heart, brain, and kidneys, seizures, as well as TSC‐associated neuropsychiatric disorders (TA
Externí odkaz:
https://doaj.org/article/64f396b35ccd4d6f937c4df61230e512
Autor:
Elizabeth Langley, Laura S. Farach, Mary K. Koenig, Hope Northrup, David F. Rodriguez‐Buritica, Kate Mowrey
Publikováno v:
American Journal of Medical Genetics Part A. 188:1688-1692
NEXMIF pathogenic variants have been known to produce a wide spectrum of X-linked intellectual disability (ID) in both males and females. Thus far, few individuals from diverse populations have been described with NEXMIF-related disorders. Herein, we
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b0275640a32ac05a7dd0d9e1ba16f98
https://doi.org/10.1002/ajmg.a.62686
https://doi.org/10.1002/ajmg.a.62686