Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Diana S. Brightman"'
Autor:
Chinmayee B. Nagaraj, Diana S. Brightman, Hannah Rea, Emily Wakefield, Nina V. G. Harkavy, Lisa Dyer, Wenying Zhang
Publikováno v:
BMC Pediatrics, Vol 24, Iss 1, Pp 1-5 (2024)
Abstract Background Familial hemophagocytic lymphohistiocytosis (FHL) is an immunological disorder characterized by overactivation of macrophages and T lymphocytes. This autosomal recessive condition has been characterized into multiple types dependi
Externí odkaz:
https://doaj.org/article/c97579fce5a342f29723d121ebc8a2e9
Autor:
Dima Qu’d, Lauren M. Schmitt, Amber Leston, Jacqueline R. Harris, Anne Slavotinek, Ilka Riddle, Diana S. Brightman, Brittany N. Simpson
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Introduction: Rubinstein-Taybi syndrome (RSTS) is a rare congenital disorder characterized by developmental and intellectual disability, broadening of thumbs and halluces, and characteristic facial features. Pathogenic variants in CREBBP lead to RSTS
Externí odkaz:
https://doaj.org/article/161b4de6377147f194258490dd334af5
Autor:
Elizabeth K. Baker, Elizabeth A. Ulm, Alyce Belonis, Diana S. Brightman, Barbara E. Hallinan, Nancy D. Leslie, Alexander G. Miethke, Marissa Vawter-Lee, Yaning Wu, Loren D. M. Pena
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Exome sequencing (ES) became clinically available in 2011 and promised an agnostic, unbiased next-generation sequencing (NGS) platform for patients with symptoms believed to have a genetic etiology. The diagnostic yield of ES has been estimated to be
Externí odkaz:
https://doaj.org/article/88f791da16a943639608a02643217658
Autor:
Chinmayee B. Nagaraj, Diana S. Brightman, Hannah Rea, Emily Wakefield, Nina V. G. Harkavy, Lisa Dyer, Wenying Zhang
Background: Familial hemophagocytic lymphohistiocytosis (FHL) is an immunological disorder characterized by overactivation of macrophages and T lymphocytes. This autosomal recessive condition has been characterized into multiple types depending on th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b496c912903ac05b00741826eb630840
https://doi.org/10.21203/rs.3.rs-2596196/v1
https://doi.org/10.21203/rs.3.rs-2596196/v1
Autor:
Virginia Miraldi Utz, Jared J. Ebert, Diana S. Brightman, Brittany N. Simpson, Stefanie Benoit, Robert A. Sisk
Publikováno v:
Ophthalmic genetics.
To report the concurrent presentation and management ofA 6-month-old Caucasian infant presented with poor visual response, high hypermetropia, and infantile-nystagmus with a provisional diagnosis of Leber Congenital Amaurosis based on clinical findin
Autor:
Robert B. Hufnagel, Monica A Sandoval, Virginia Miraldi Utz, Howard M. Saal, Diana S Brightman
Publikováno v:
Am J Med Genet C Semin Med Genet
Mosaic genetic mutations may be somatic, germline, or “gonosomal” and have the potential to cause genetic syndromes, disorders, or malformations. Mutations can occur at any point in embryonic development and the timing determines the extent of di
Mosaic variegated aneuploidy syndrome caused by a CEP57 mutation diagnosed by whole exome sequencing
Publikováno v:
Clinical Case Reports
Mosaic variegated aneuploidy (MVA) syndrome is a rare disorder presenting with short stature, intellectual disability, and mosaic aneuploidies. Herein, we report a patient with MVA diagnosed via whole exome sequencing after two normal karyotype resul
Autor:
I. Karen Temple, Deborah J G Mackay, Justin H Davies, Andrew Dauber, Oluwakemi Lokulo-Sodipe, Diana S Brightman, Beverly A Searle
Publikováno v:
Hormone Research in Paediatrics. 90:407-413
Background/Aims: Temple syndrome is an imprinting disorder caused by maternal uniparental disomy of chromosome 14 (mat UPD14), paternal deletion of 14q32 or paternal hypomethylation of the intergenic differentially methylated region (MEG3/DLK1 IG-DMR
Autor:
Oluwakemi Lokulo-Sodipe, Diana S Brightman, Mackay Djg, Searle B, I.K. Temple, Andrew Dauber, Justin H Davies
Publikováno v:
Yearbook of Paediatric Endocrinology.
Publikováno v:
genesis. 54:129-135
The developing mouse retina is a tractable model for studying neurogenesis and differentiation. Although transgenic Cre mouse lines exist to mediate conditional genetic manipulations in developing mouse retinas, none of them act specifically in early