Výsledky vyhledávání - "J. B P Stephenson"

Coats' Plus: A Progressive Familial Syndrome of Bilateral Coats' Disease, Characteristic Cerebral Calcification, Leukoencephalopathy, Slow Pre- and Post-Natal Linear Growth and Defects of Bone Marrow and Integument

Autor: B H Browne, Charles-Antoine Haenggeli, S Tirupathi, Sameer M. Zuberi, J. B P Stephenson, Eileen P. Treacy, Yanick J. Crow, D M Hadley, J McMenamin, John Tolmie

Publikováno v: Neuropediatrics, Vol. 35, No 1 (2004) pp. 10-9

In 1988 we reported two sisters with bilateral Coats' disease, sparse hair, dystrophic nails, and primeval splashes of intracranial calcification. We now provide an update on this family documenting the occurrence of skeletal defects comprising abnor

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c89fd6b59abe2a7d51e4d36e6c8ff355
https://doi.org/10.1055/s-2003-43552

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Cree encephalitis is allelic with Aicardi-Goutieres syndrome: implications for the pathogenesis of disorders of interferon alpha metabolism

Autor: M Lefson, Andrew P. Jackson, Manir Ali, J. B P Stephenson, Pierre Lebon, Jacquelyn Bond, Christopher Geoffrey Woods, Deborah N. Black, Yanick J. Crow, Jacques L. Michaud, Emma Roberts

Publikováno v: Scopus-Elsevier

Aicardi-Goutiéres syndrome (AGS) is an early onset, progressive encephalopathy characterised by calcification of the basal ganglia, white matter abnormalities, and a chronic cerebrospinal fluid (CSF) lymphocytosis. Cree encephalitis shows phenotypic

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::350ff8b15f79273873d5599b41ef4e5d
https://doi.org/10.1136/jmg.40.3.183

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Aicardi-Goutieres syndrome displays genetic heterogeneity with one locus (AGS1) on chromosome 3p21

Publikováno v: American Journal of Human Genetics, 67, 213-221
American Journal of Human Genetics, 67, pp. 213-221
American Journal of Human Genetics, 67, 213-221. Cell Press

We have studied 23 children from 13 families with a clinical diagnosis of Aicardi-Goutières syndrome. Affected individuals had developed an early-onset progressive encephalopathy that was characterized by a normal head circumference at birth, basal

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c0c5187c231db37d3a39a63376f1393e
https://hdl.handle.net/2066/166956

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Cardiac pacing for severe childhood neurally mediated syncope with reflex anoxic seizures

Autor: J. B P Stephenson, John Norrie, Karen McLeod, Neil Wilson, J. Hewitt

Publikováno v: Heart. 82:721-725

OBJECTIVE—To determine whether permanent cardiac pacing could prevent syncope and seizures in children with frequent severe neurally mediated syncope, and if so whether dual chamber pacing was superior to single chamber ventricular pacing. METHODS�

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::56d4d7e689ee5fc09bf07de030a3f47c
https://doi.org/10.1136/hrt.82.6.721

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'Cataplexy' and muscle ultrasound abnormalities in Coffin-Lowry syndrome

Autor: J. B P Stephenson, Sameer M. Zuberi, A. Hollman, Robert McWilliam, K. Pohl, John Tolmie, Yanick J. Crow

Publikováno v: Journal of Medical Genetics. 35:94-98

The Coffin-Lowry syndrome is a rare cause of mental retardation recognised by its distinctive facial and digital features. We have observed an unusual, non-epileptic, cataplexy-like phenomenon in three subjects with the syndrome and we speculate that

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::2b607f2ee31295a3057c425de82e0246
https://doi.org/10.1136/jmg.35.2.94

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Cerebroretinal microangiopathy with calcifications and cysts (CRMCC)

Publikováno v: Briggs, T A, Abdel-Salam, G, Balicki, M, Baxter, P, Bertini, E, Bishop, N, Browne, B H, Chitayat, D, Chong, W K, Eid, M M, Halliday, W, Hughes, I, Klusmann-Koy, A, Kurian, M, Nischal, K K, Rice, G I, Stephenson, J B P, Surtees, R, Talbot, J F, Tehrani, N N, Tolmie, J L, Toomes, C, van der Knaap, M S & Crow, Y J 2008, ' Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) ', American Journal of Medical Genetics Part A, vol. 146A, no. 2, pp. 182-190 . https://doi.org/10.1002/ajmg.a.32080
American journal of medical genetics. Part A, 146A(2), 182-190. Wiley-Liss Inc.
American Journal of Medical Genetics Part A, 146A(2), 182-190. Wiley-Liss Inc.

Extensive intracranial calcifications and leukoencephalopathy are seen in both Coats plus and leukoencephalopathy with calcifications and cysts (LCC; Labrune syndrome). Coats plus syndrome is additionally characterized by the presence of bilateral re

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a6d66ec770c2fa187bed2a8e796de15e
https://research.vumc.nl/en/publications/7debf067-ea50-46a5-9a4a-a735df1f86ac

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Cataplexy in the Prader–Willi syndrome

Autor: John Tolmie, J B P Stephenson, Edward S. Tobias

We report cataplexy, sudden atonic episodes provoked by emotion, in three patients with Prader–Willi syndrome (PWS) and suggest that cataplexy may be relatively common in this condition. Detailed questioning of the mother of an 18 year old woman wh

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7dead053d612c340a300f12578afbaed
https://europepmc.org/articles/PMC1719195/

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The changing clinical pattern of Reye's syndrome 1982-90

Autor: J. F. T. Glasgow, J. C. Bruce, A. P. Mowat, L. H. Newton, S. M. Hall, R. M. Hardie, J. B. P. Stephenson

OBJECTIVE: To describe trends in the clinical pattern of Reye's syndrome in the British Isles between 1982 and 1990; and to determine the relation between any changes and the June 1986 warnings against the use of aspirin in children. DESIGN: Developm

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::efd9875c00ac40a142a20f9abb53ee02
https://europepmc.org/articles/PMC1717045/

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