Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Chelsea S. Norman"'
Autor:
Siying Lin, Aida Sanchez-Bretaño, Joseph S. Leslie, Katie B. Williams, Helena Lee, N. Simon Thomas, Jonathan Callaway, James Deline, J. Arjuna Ratnayaka, Diana Baralle, Melanie A. Schmitt, Chelsea S. Norman, Sheri Hammond, Gaurav V. Harlalka, Sarah Ennis, Harold E. Cross, Olivia Wenger, Andrew H. Crosby, Emma L. Baple, Jay E. Self
Publikováno v:
npj Genomic Medicine, Vol 7, Iss 1, Pp 1-11 (2022)
Abstract Oculocutaneous albinism type 1 (OCA1) is caused by pathogenic variants in the TYR (tyrosinase) gene which encodes the critical and rate-limiting enzyme in melanin synthesis. It is the most common OCA subtype found in Caucasians, accounting f
Externí odkaz:
https://doaj.org/article/8ddc9109fec74dd780fb8658772b15c8
Autor:
Luke O’Gorman, Chelsea S. Norman, Luke Michaels, Tutte Newall, Andrew H. Crosby, Christopher Mattocks, Angela J. Cree, Andrew J. Lotery, Emma L. Baple, J. Arjuna Ratnayaka, Diana Baralle, Helena Lee, Daniel Osborne, Fatima Shawkat, Jane Gibson, Sarah Ennis, Jay E. Self
Publikováno v:
Scientific Reports, Vol 9, Iss 1, Pp 1-8 (2019)
Abstract Nystagmus is a disorder of uncontrolled eye movement and can occur as an isolated trait (idiopathic INS, IINS) or as part of multisystem disorders such as albinism, significant visual disorders or neurological disease. Eighty-one unrelated p
Externí odkaz:
https://doaj.org/article/b9cd1a136f474a9fb875e2845e84278d
Autor:
Chelsea S. Norman, Luke O’Gorman, Jane Gibson, Reuben J. Pengelly, Diana Baralle, J. Arjuna Ratnayaka, Helen Griffiths, Matthew Rose-Zerilli, Megan Ranger, David Bunyan, Helena Lee, Rhiannon Page, Tutte Newall, Fatima Shawkat, Christopher Mattocks, Daniel Ward, Sarah Ennis, Jay E. Self
Publikováno v:
Scientific Reports, Vol 7, Iss 1, Pp 1-9 (2017)
Abstract Oculocutaneous albinism (OCA) and ocular albinism (OA) are inherited disorders of melanin biosynthesis, resulting in loss of pigment and severe visual deficits. OCA encompasses a range of subtypes with overlapping, often hypomorphic phenotyp
Externí odkaz:
https://doaj.org/article/eb88692a95b64c0eb747fffe226ced8a
Autor:
Diana Baralle, Andrew J. Lotery, Jane Gibson, Emma L. Baple, Chelsea S. Norman, J. Arjuna Ratnayaka, Angela J. Cree, C. Mattocks, Luke Michaels, Tutte Newall, Andrew H. Crosby, Sarah Ennis, Jay E. Self, Luke O'Gorman, Helena Lee, Daniel Osborne, Fatima Shawkat
Publikováno v:
Scientific Reports, Vol 9, Iss 1, Pp 1-8 (2019)
Scientific Reports
Scientific Reports
Nystagmus is a disorder of uncontrolled eye movement and can occur as an isolated trait (idiopathic INS, IINS) or as part of multisystem disorders such as albinism, significant visual disorders or neurological disease. Eighty-one unrelated patients w
Autor:
Jay E. Self, Luke O'Gorman, Andrew H. Crosby, Emma L. Baple, Muhammad Jawad Hassan, Siying Lin, Muhammad Ikram Ullah, Shaheer Sabz Ali, Gaurav V. Harlalka, Sarmad Mehmood, Barry A. Chioza, Muhammad Shakil, Muhammad Salman Shabbir, Chelsea S. Norman, Ilaria D'Atri, Sarah Ennis, Haiba Kaul, Muhammad Arshad, Tahir Aman
Publikováno v:
Meta Gene. 17:48-55
Background: Oculocutaneous albinism (OCA) is a genetically heterogeneous disorder of abnormal melanin synthesis, resulting in decreased or absent pigmentation of eyes, skin and hair. OCA has been classified based on genetic findings into seven subtyp