Zobrazeno 1 - 10
of 19
pro vyhledávání: '"Shazia K. Afridi"'
Autor:
Omar N. Pathmanaban, Miriam J. Smith, Simon R. Freeman, Raji Anup, Mary Perry, D. Gareth Evans, Elaine F. Harkness, Emma Stapleton, Roger Laitt, Simon Tobi, Allyson Parry, Rupert Obholzer, Andrew T. King, Naomi L. Bowers, Philip T Smith, Shazia K. Afridi, Mark Kellett, Owen M. Thomas, Chris Duff, Grace Vassallo, Juliette Gair, Andrew J Wallace, Simon K W Lloyd, Scott A. Rutherford, Claire Hartley, Charlotte Hammerbeck-Ward, Stavros Stivaros, Patrick R. Axon, Dorothy Halliday
Publikováno v:
English Specialist NF research group 2019, ' Incidence of mosaicism in 1055 de novo NF2 cases: Much higher than previous estimates with high utility of Next Generation Sequencing. ', Genetics in Medicine . https://doi.org/10.1038/s41436-019-0598-7
PURPOSE: To evaluate the incidence of mosaicism in de novo neurofibromatosis 2 (NF2).METHODS: Patients fulfilling NF2 criteria, but with no known affected family member from a previous generation (n = 1055), were tested for NF2 variants in lymphocyte
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf947c2aee5b8ac14ebd0ccad711d6ea
https://doi.org/10.1038/s41436-019-0598-7
https://doi.org/10.1038/s41436-019-0598-7
Autor:
Omar N. Pathmanaban, Mary Perry, Patrick R. Axon, Dorothy Halliday, Miriam J. Smith, Owen M. Thomas, Roger Laitt, Allyson Parry, Juliette Gair, Mark Kellett, Elaine F. Harkness, Emma Stapleton, Rosalie E. Ferner, Simon R. Freeman, Andrew J Wallace, Simon K.L. Lloyd, Scott A. Rutherford, Naomi L. Bowers, Andrew T. King, Shazia K. Afridi, Raji Anup, Simon Tobi, D. Gareth Evans, Charlotte Hammerbeck-Ward
Publikováno v:
The English Specialist NF2 research group 2019, ' Identifying the deficiencies of current diagnostic criteria for neurofibromatosis 2 using databases of 2777 individuals with molecular testing ', Genetics in Medicine, vol. 21, no. 7, pp. 1525-1533 . https://doi.org/10.1038/s41436-018-0384-y
Purpose: We have evaluated deficiencies in existing diagnostic criteria for neurofibromatosis 2 (NF2). Methods: Two large databases of individuals fulfilling NF2 criteria (n=1361) and those tested for NF2 variants with criteria short of diagnosis (n=
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19696baad021980a995634cd55e5d0b5
https://doi.org/10.1038/s41436-018-0384-y
https://doi.org/10.1038/s41436-018-0384-y
Autor:
Shazia K. Afridi, Jessica Southwell
Publikováno v:
Cephalalgia : an international journal of headache. 41(8)
Objective There is a lack of data on the burden of primary headache disorders such as migraine on emergency services. Existing data relies on a coding of “headache”, which encompasses both primary and secondary headache of all causes; for example
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::60d3215c905cf9f6d935c0b96e4208f3
https://pubmed.ncbi.nlm.nih.gov/33601941
https://pubmed.ncbi.nlm.nih.gov/33601941
Autor:
Mufaddal T. Moonim, Shazia K. Afridi, Louise Izatt, Prodromos Chatzikyriakou, Rupert Obholzer, Ann Sandison, Rebecca J. Oakey, Philip Touska
Publikováno v:
Cancer genetics.
We report a novel case of multiple paragangliomas in a patient who was identified with pathogenic variants in both NF1 and SDHD genes. The proband is a man with known familial NF1 disease, diagnosed clinically in childhood. Multiple head and neck par
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ea8d770c12695d748fd15e84c3b42c6
https://pubmed.ncbi.nlm.nih.gov/34107390
https://pubmed.ncbi.nlm.nih.gov/34107390
Autor:
Shazia K. Afridi, Vijeya Ganesan, Cheryl Hemingway, Karine Lascelles, Rosalie E. Ferner, Ata Siddiqui
Publikováno v:
Developmental Medicine & Child Neurology. 60:1285-1288
Unlike adult neurofibromatosis type 2 (NF2), which presents with symptoms related to bilateral vestibular schwannomas, children with NF2 most frequently present with ocular, dermatological, and neurological symptoms. Arteriopathy, a well-established
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2dbdf5fe116ffeeb03cb376d35ea881e
https://doi.org/10.1111/dmcn.13920
https://doi.org/10.1111/dmcn.13920
Autor:
Shazia K Afridi
Publikováno v:
Obstetric Medicine. 11:154-159
The prevalence of migraine in women of childbearing age is high, estimated at 24%. Migraine management during pregnancy and lactation can be challenging. Our understanding of the way in which medications affect the unborn fetus is still incomplete an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::09e838654b5d303f0eabf6484993303e
https://doi.org/10.1177/1753495x18769170
https://doi.org/10.1177/1753495x18769170
Publikováno v:
American Journal of Medical Genetics Part A. 173:1562-1565
There have been anecdotal reports of vasculopathy associated with Neurofibromatosis Type 2 (NF2). Given the increasing use of bevacizumab, a vascular endothelial growth factor inhibitor which results in an increased risk of bleeding, it is important
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf1a0db862f7103c7488fa9aa4fab6c0
https://doi.org/10.1002/ajmg.a.38221
https://doi.org/10.1002/ajmg.a.38221
Autor:
Shazia K. Afridi
Publikováno v:
Practical neurology. 20(2)
Migraine affects 959 million people worldwide,1 with the highest prevalence being in women of childbearing age. The interplay between female hormones and migraine can be a challenging area to navigate since issues relating to pregnancy, contraception
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::63abddff43c83ac643d807cea36359d0
https://pubmed.ncbi.nlm.nih.gov/31753858
https://pubmed.ncbi.nlm.nih.gov/31753858
Autor:
D Gareth, Evans, Claire L, Hartley, Philip T, Smith, Andrew T, King, Naomi L, Bowers, Simon, Tobi, Andrew J, Wallace, Mary, Perry, Raji, Anup, Simon K W, Lloyd, Scott A, Rutherford, Charlotte, Hammerbeck-Ward, Omar N, Pathmanaban, Emma, Stapleton, Simon R, Freeman, Mark, Kellett, Dorothy, Halliday, Allyson, Parry, Juliette J, Gair, Patrick, Axon, Roger, Laitt, Owen, Thomas, Shazia K, Afridi, Rupert, Obholzer, Chris, Duff, Stavros M, Stivaros, Grace, Vassallo, Elaine F, Harkness, Miriam J, Smith
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 22(1)
To evaluate the incidence of mosaicism in de novo neurofibromatosis 2 (NF2).Patients fulfilling NF2 criteria, but with no known affected family member from a previous generation (n = 1055), were tested for NF2 variants in lymphocyte DNA and where ava
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::4180806d99a2fcb91a0ac5e93f02c147
https://pubmed.ncbi.nlm.nih.gov/31273341
https://pubmed.ncbi.nlm.nih.gov/31273341
Publikováno v:
Practical Neurology. 20:165-166
Neurofibromatosis type I is a common autosomal dominant inherited disorder of neural crest origin, affecting 1 in 3000 people.1 Plexiform neurofibromas, benign peripheral nerve sheath tumours, are considered pathognomonic of neurofibromatosis type I.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f61584a328fc5733c4aaa174292224b5
https://doi.org/10.1136/practneurol-2019-002375
https://doi.org/10.1136/practneurol-2019-002375