Výsledky vyhledávání - "Maureen Laidlaw"

Impairment of theSchistosoma mansoni–Specific Immune Responses Elicited by Treatment with Praziquantel in Ugandans with HIV‐1 Coinfection

Autor: Alison M. Elliott, James A. G. Whitworth, Christine Watera, Proscovia B. Namujju, Maureen Laidlaw, David W. Dunne, Patrice A. Mawa, Frances M. Jones, Sarah Joseph, Gamal Mohamed, Moses Kizza

Publikováno v: The Journal of Infectious Diseases. 190:613-618

We show that Ugandan adults coinfected with Schistosoma mansoni and human immunodeficiency virus type 1 (HIV-1) are able to mount S. mansoni-specific immune responses but that few such responses increase after treatment with praziquantel (PZQ). Level

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61d08aac4bb347b94233907b82129c6d
https://doi.org/10.1086/422396

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Vitreous phenotype: a key diagnostic sign in Stickler syndrome types 1 and 2 complicated by double heterozygosity

Autor: A Ang, Narman Puvanachandra, Michael Ryalls, Tsiang Ung, Sarah P Meredith, John P. Scott, Frances Howard, Allan J. Richards, Martin P. Snead, Maureen Laidlaw, Louise C. Wilson, Arabella V. Poulson

Publikováno v: American journal of medical genetics. Part A. (6)

We describe the clinical findings in two patients with double heterozygosity, both involving Stickler syndrome. In case 1, the proposita had Albright hereditary osteodystrophy which was inherited from her mother and type 1 Stickler syndrome which was

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::890a1f339965cfaa5711035626e70395
https://pubmed.ncbi.nlm.nih.gov/17318849

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Missense and silent mutations in COL2A1 result in Stickler syndrome but via different molecular mechanisms

Autor: Allan J. Richards, Arabella V. Poulson, Martin P. Snead, Maureen Laidlaw, John D. Scott, Sarah P Meredith, Pallavi Shankar

Publikováno v: Human Mutation. 28:639-639

Stickler syndrome due to mutations in COL2A1 is usually the result of premature termination codons and nonsense mediated decay resulting in haploinsufficiency of type II collagen. Here we present two missense mutations and one apparently silent mutat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8bcc18ec5ceda1e21a437cd9195defe6
https://doi.org/10.1002/humu.9497

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High efficiency of mutation detection in type 1 Stickler syndrome using a two-stage approach: vitreoretinal assessment coupled with exon sequencing for screening COL2A1

Autor: Philip W. P. Bearcroft, John D. Scott, Arabella V. Poulson, A Ang, Joanne Whittaker, Harjeet Rai, Maureen Laidlaw, Allan J. Richards, David M. Baguley, Martin P. Snead, Becky Treacy

Publikováno v: Human Mutation. 27:1156-1156

Stickler syndrome is a genetically heterogenous disorder that affects the ocular, skeletal, and auditory systems. To date three genes, COL2A1, COL11A1, and COL11A2, encoding the heterotypic type II/XI collagen fibrils present in vitreous and cartilag

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cc5947784c9f600b46a3d3b88a11ba36
https://doi.org/10.1002/humu.20438

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