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FILIP1-associated neuromuscular disorder and phenotypic blending due to paternal UPD6.

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Title: FILIP1-associated neuromuscular disorder and phenotypic blending due to paternal UPD6.
Authors: Watts LM; Oxford Biomedical Research Centre, Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK.; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 7HE, UK., Bunyan DJ; Wessex Genomics Laboratory Service, Salisbury District Hospital, Salisbury SP2 8BJ, UK., Giacopuzzi E; Human Technopole, Milan 20157, Italy., Walker S; Genomics England, London E14 5AB, UK., Gazdagh G; Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton SO16 5YA, UK., Thomas NS; Wessex Genomics Laboratory Service, Salisbury District Hospital, Salisbury SP2 8BJ, UK., Straub V; John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne NE1 3BZ, UK., Childs AM; Paediatric Neuromuscular Disease Unit, Leeds Teaching Hospitals Trust, Leeds LS1 3EX, UK., Forsyth J; West Midlands Regional Genetics Laboratory, Central and South Genomic Laboratory Hub, Birmingham B15 2TG, UK., Vogt J; West Midlands Regional Genetics Service, Birmingham Women's and Children's Hospital, Birmingham B15 2TG, UK., Khan S; West Midlands Regional Genetics Service, Birmingham Women's and Children's Hospital, Birmingham B15 2TG, UK., Willis TA; Muscle Team, Robert Jones and Agnes Hunt Orthopaedic Hospital NHS Foundation Trust, Oswestry, Shropshire SY10 7AG, UK., Taylor JC; Oxford Biomedical Research Centre, Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK., Pagnamenta AT; Oxford Biomedical Research Centre, Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK.; RILD Wellcome Wolfson Centre, University of Exeter Medical School, Exeter EX2 5DW, UK.
Source: Brain communications [Brain Commun] 2024 Sep 25; Vol. 6 (5), pp. fcae330. Date of Electronic Publication: 2024 Sep 25 (Print Publication: 2024).
Publication Type: Journal Article
Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 101755125 Publication Model: eCollection Cited Medium: Internet ISSN: 2632-1297 (Electronic) Linking ISSN: 26321297 NLM ISO Abbreviation: Brain Commun Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
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  Data: FILIP1-associated neuromuscular disorder and phenotypic blending due to paternal UPD6.
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  Data: <searchLink fieldCode="AU" term="%22Watts+LM%22">Watts LM</searchLink>; Oxford Biomedical Research Centre, Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK.; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 7HE, UK.<br /><searchLink fieldCode="AU" term="%22Bunyan+DJ%22">Bunyan DJ</searchLink>; Wessex Genomics Laboratory Service, Salisbury District Hospital, Salisbury SP2 8BJ, UK.<br /><searchLink fieldCode="AU" term="%22Giacopuzzi+E%22">Giacopuzzi E</searchLink>; Human Technopole, Milan 20157, Italy.<br /><searchLink fieldCode="AU" term="%22Walker+S%22">Walker S</searchLink>; Genomics England, London E14 5AB, UK.<br /><searchLink fieldCode="AU" term="%22Gazdagh+G%22">Gazdagh G</searchLink>; Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton SO16 5YA, UK.<br /><searchLink fieldCode="AU" term="%22Thomas+NS%22">Thomas NS</searchLink>; Wessex Genomics Laboratory Service, Salisbury District Hospital, Salisbury SP2 8BJ, UK.<br /><searchLink fieldCode="AU" term="%22Straub+V%22">Straub V</searchLink>; John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne NE1 3BZ, UK.<br /><searchLink fieldCode="AU" term="%22Childs+AM%22">Childs AM</searchLink>; Paediatric Neuromuscular Disease Unit, Leeds Teaching Hospitals Trust, Leeds LS1 3EX, UK.<br /><searchLink fieldCode="AU" term="%22Forsyth+J%22">Forsyth J</searchLink>; West Midlands Regional Genetics Laboratory, Central and South Genomic Laboratory Hub, Birmingham B15 2TG, UK.<br /><searchLink fieldCode="AU" term="%22Vogt+J%22">Vogt J</searchLink>; West Midlands Regional Genetics Service, Birmingham Women's and Children's Hospital, Birmingham B15 2TG, UK.<br /><searchLink fieldCode="AU" term="%22Khan+S%22">Khan S</searchLink>; West Midlands Regional Genetics Service, Birmingham Women's and Children's Hospital, Birmingham B15 2TG, UK.<br /><searchLink fieldCode="AU" term="%22Willis+TA%22">Willis TA</searchLink>; Muscle Team, Robert Jones and Agnes Hunt Orthopaedic Hospital NHS Foundation Trust, Oswestry, Shropshire SY10 7AG, UK.<br /><searchLink fieldCode="AU" term="%22Taylor+JC%22">Taylor JC</searchLink>; Oxford Biomedical Research Centre, Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK.<br /><searchLink fieldCode="AU" term="%22Pagnamenta+AT%22">Pagnamenta AT</searchLink>; Oxford Biomedical Research Centre, Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK.; RILD Wellcome Wolfson Centre, University of Exeter Medical School, Exeter EX2 5DW, UK.
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  Data: <searchLink fieldCode="JN" term="%22101755125%22">Brain communications</searchLink> [Brain Commun] 2024 Sep 25; Vol. 6 (5), pp. fcae330. <i>Date of Electronic Publication: </i>2024 Sep 25 (<i>Print Publication: </i>2024).
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