نتائج البحث - "LS Chitty"

المؤلفون: Peter M; North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, United Kingdom., Mellis R; North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, United Kingdom., McInnes-Dean H; North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.; Antenatal Results and Choices, London, United Kingdom.; Department of Applied Health Research, University College London, London, United Kingdom.; Alström Syndrome UK, Torquay, United Kingdom.; West Midlands Regional Genetics Laboratory, Central and South Genomic Laboratory Hub, Birmingham, United Kingdom.; RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon University Healthcare NHS Foundation Trust, Exeter, United Kingdom.; Peninsula Clinical Genetics Service, School, Royal Devon University Healthcare NHS Foundation Trust, Exeter, United Kingdom.; Bristol Regional Genetics Service, St Michael's Hospital, Bristol, United Kingdom.; Northern Genetics Service, International Centre for Life, Newcastle upon Tyne, United Kingdom.; Department of Clinical Genetics, Leeds Teaching Hospitals NHS Trust, Leeds, United Kingdom.; Liverpool Centre for Genomic Medicine, Liverpool Women's NHS Foundation Trust, Liverpool, United Kingdom.; Oxford Centre for Genomic Medicine, Oxford, United Kingdom.; Faculty of Medicine, Imperial College & North West Thames Regional Genetics Service, London, United Kingdom.; Nottingham Regional Genetics Service, City Hospital Campus, Nottingham University Hospitals NHS Trust, Nottingham, United Kingdom.; Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, United Kingdom.; Clinical Genetics Department, Guy's Hospital, Guy's and St Thomas' NHS Foundation Trust, London, United Kingdom.; St George's University Hospitals NHS Foundation Trust, London, United Kingdom.; Department of Obstetrics and Gynaecology, Nottingham University Hospitals, Nottingham, United Kingdom.; Department of Clinical Genetics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester, United Kingdom.; Sheffield Clinical Genomics Service, Sheffield, United Kingdom.; Queen Charlotte's and Chelsea Hospital, Imperial College Healthcare NHS Trust, London, United Kingdom.; Department of Clinical Genetics, University Hospitals of Leicester NHS Trust, Leicester, United Kingdom.; Clinical Genetics Unit, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, United Kingdom., Daniel M; North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, United Kingdom., Walton H; Department of Applied Health Research, University College London, London, United Kingdom., Fisher J; Antenatal Results and Choices, London, United Kingdom., Leeson-Beevers K; Alström Syndrome UK, Torquay, United Kingdom., Allen S; West Midlands Regional Genetics Laboratory, Central and South Genomic Laboratory Hub, Birmingham, United Kingdom., Baple EL; RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon University Healthcare NHS Foundation Trust, Exeter, United Kingdom.; Peninsula Clinical Genetics Service, School, Royal Devon University Healthcare NHS Foundation Trust, Exeter, United Kingdom., Beleza-Meireles A; Bristol Regional Genetics Service, St Michael's Hospital, Bristol, United Kingdom., Bertoli M; Northern Genetics Service, International Centre for Life, Newcastle upon Tyne, United Kingdom., Campbell J; Department of Clinical Genetics, Leeds Teaching Hospitals NHS Trust, Leeds, United Kingdom., Canham N; Liverpool Centre for Genomic Medicine, Liverpool Women's NHS Foundation Trust, Liverpool, United Kingdom., Cilliers D; Oxford Centre for Genomic Medicine, Oxford, United Kingdom., Cobben J; Faculty of Medicine, Imperial College & North West Thames Regional Genetics Service, London, United Kingdom., Eason J; Nottingham Regional Genetics Service, City Hospital Campus, Nottingham University Hospitals NHS Trust, Nottingham, United Kingdom., Harrison V; Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, United Kingdom., Holder-Espinasse M; Clinical Genetics Department, Guy's Hospital, Guy's and St Thomas' NHS Foundation Trust, London, United Kingdom., Male A; North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom., Mansour S; St George's University Hospitals NHS Foundation Trust, London, United Kingdom., McEwan A; Department of Obstetrics and Gynaecology, Nottingham University Hospitals, Nottingham, United Kingdom., Park SM; Department of Clinical Genetics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom., Smith A; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester, United Kingdom., Stewart A; Sheffield Clinical Genomics Service, Sheffield, United Kingdom., Tapon D; Queen Charlotte's and Chelsea Hospital, Imperial College Healthcare NHS Trust, London, United Kingdom., Vasudevan P; Department of Clinical Genetics, University Hospitals of Leicester NHS Trust, Leicester, United Kingdom., Williams D; Clinical Genetics Unit, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, United Kingdom., Wu WH; North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, United Kingdom., Chitty LS; North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, United Kingdom., Hill M; North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.

المصدر: Frontiers in genetics [Front Genet] 2024 Jun 05; Vol. 15, pp. 1401705. Date of Electronic Publication: 2024 Jun 05 (Print Publication: 2024).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101560621 Publication Model: eCollection Cited Medium: Print ISSN: 1664-8021 (Print) Linking ISSN: 16648021 NLM ISO Abbreviation: Front Genet Subsets: PubMed not MEDLINE

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دورية أكاديمية

An exploratory open-label multicentre phase I/II trial evaluating the safety and efficacy of postnatal or prenatal and postnatal administration of allogeneic expanded fetal mesenchymal stem cells for the treatment of severe osteogenesis imperfecta in infants and fetuses: the BOOSTB4 trial protocol.

المؤلفون: Sagar RL; Elizabeth Garrett Anderson Institute for Women's Health, University College London, London, UK.; NIHR University College London Hospitals Biomedical Research Centre, London, UK., Åström E; Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden.; Astrid Lindgren Children's Hospital, Karolinska University Hospital, Stockholm, Sweden., Chitty LS; North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Genetics and Genomics, UCL Great Ormond Street Institute of Child Health, London, UK., Crowe B; Department of Neurosciences, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., David AL; Elizabeth Garrett Anderson Institute for Women's Health, University College London, London, UK.; NIHR University College London Hospitals Biomedical Research Centre, London, UK., DeVile C; Department of Neurosciences, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Forsmark A; PharmaLex, Gothenburg, Sweden., Franzen V; XNK Therapeutics AB, Huddinge, Sweden., Hermeren G; Department of Clinical Sciences, Lund University Faculty of Medicine, Lund, Sweden., Hill M; North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Genetics and Genomics, UCL Great Ormond Street Institute of Child Health, London, UK., Johansson M; Department of Clinical Sciences, Lund University Faculty of Medicine, Lund, Sweden., Lindemans C; Department of Pediatrics, University Medical Centre Utrecht, Utrecht, The Netherlands., Lindgren P; Center for Fetal Medicine, Karolinska University Hospital, Stockholm, Sweden.; Department of Clinical Science, Intervention and Technology, Karolinska Institutet, Stockholm, Sweden., Nijhuis W; Department of Orthopedic Surgery, University Medical Centre Utrecht, Utrecht, The Netherlands., Oepkes D; Department of Obstetrics, Leiden University Medical Center, Leiden, The Netherlands., Rehberg M; Department of Pediatrics, University Hospital Cologne, Koln, Nordrhein-Westfalen, Germany., Sahlin NE; Department of Clinical Sciences, Lund University Faculty of Medicine, Lund, Sweden., Sakkers R; Department of Orthopedic Surgery, University Medical Centre Utrecht, Utrecht, The Netherlands., Semler O; Department of Pediatrics, University Hospital Cologne, Koln, Nordrhein-Westfalen, Germany., Sundin M; Department of Clinical Science, Intervention and Technology, Karolinska Institutet, Stockholm, Sweden.; Section of Pediatic Hematology, Immunology and HCT, Karolinska University Hospital, Stockholm, Sweden., Walther-Jallow L; Department of Clinical Science, Intervention and Technology, Karolinska Institutet, Stockholm, Sweden., Verweij EJTJ; Department of Obstetrics, Leiden University Medical Center, Leiden, The Netherlands., Westgren M; Department of Clinical Science, Intervention and Technology, Karolinska Institutet, Stockholm, Sweden., Götherström C; Department of Clinical Science, Intervention and Technology, Karolinska Institutet, Stockholm, Sweden cecilia.gotherstrom@ki.se.

المصدر: BMJ open [BMJ Open] 2024 Jun 04; Vol. 14 (6), pp. e079767. Date of Electronic Publication: 2024 Jun 04.

نوع المنشور: Journal Article; Clinical Trial Protocol; Clinical Trial, Phase II; Clinical Trial, Phase I

بيانات الدورية: Publisher: BMJ Publishing Group Ltd Country of Publication: England NLM ID: 101552874 Publication Model: Electronic Cited Medium: Internet ISSN: 2044-6055 (Electronic) Linking ISSN: 20446055 NLM ISO Abbreviation: BMJ Open Subsets: MEDLINE

مواضيع طبية MeSH: Osteogenesis Imperfecta*/therapy , Mesenchymal Stem Cell Transplantation*/methods, Humans ; Female ; Pregnancy ; Infant ; Clinical Trials, Phase I as Topic ; Multicenter Studies as Topic ; Infant, Newborn ; Clinical Trials, Phase II as Topic ; Mesenchymal Stem Cells ; Treatment Outcome ; Male ; Fetal Stem Cells/transplantation

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7

دورية أكاديمية

The incremental yield of prenatal exome sequencing over chromosome microarray for congenital heart abnormalities: A systematic review and meta-analysis.

المؤلفون: Reilly K; Centre for Public Health, Queens University Belfast, Belfast, UK., Sonner S; Centre for Public Health, Queens University Belfast, Belfast, UK., McCay N; Department of Paediatric Cardiology, Royal Belfast Hospital for Sick Children, Belfast, UK., Rolnik DL; Department of Obstetrics and Gynaecology, Monash University, Melbourne, Victoria, Australia., Casey F; Department of Paediatric Cardiology, Royal Belfast Hospital for Sick Children, Belfast, UK.; Wellcome-Wolfson Institute for Experimental Medicine, Queen's University Belfast, Belfast, UK., Seale AN; Department of Paediatric Cardiology, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.; Institute of Cardiovascular Science, University of Birmingham, Birmingham, UK., Watson CJ; Wellcome-Wolfson Institute for Experimental Medicine, Queen's University Belfast, Belfast, UK., Kan A; Department of Obstetrics and Gynaecology, Queen Mary Hospital, Hong Kong, China., Lai THT; Department of Obstetrics and Gynaecology, Queen Mary Hospital, Hong Kong, China., Chung BHY; Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong, China., Diderich KEM; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands., Srebniak MI; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands., Dempsey E; South West Thames Regional Genetics Service, London, UK.; School of Biological and Molecular Sciences, St George's University of London, London, UK., Drury S; Congenica Ltd, Biodata Innovation Centre, Wellcome Trust Genome Campus, Hinxton, UK., Giordano J; Institute for Genomic Medicine, Columbia University Medical Center, New York, New York, USA.; Department of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine, Columbia University Medical Center, New York, New York, USA., Wapner R; Institute for Genomic Medicine, Columbia University Medical Center, New York, New York, USA.; Department of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine, Columbia University Medical Center, New York, New York, USA., Kilby MD; Fetal Medicine Center, Birmingham Women's & Children's Foundation Trust, Birmingham, UK.; College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK.; Medical Genomics Research Group, Illumina, Cambridge, UK., Chitty LS; Great Ormond Street NHS Foundation Trust, London, UK.; UCL Great Ormond Street Institute of Child Health, London, UK., Mone F; Centre for Public Health, Queens University Belfast, Belfast, UK.

المصدر: Prenatal diagnosis [Prenat Diagn] 2024 Jun; Vol. 44 (6-7), pp. 821-831. Date of Electronic Publication: 2024 May 06.

نوع المنشور: Systematic Review; Journal Article; Meta-Analysis

بيانات الدورية: Publisher: Wiley Country of Publication: England NLM ID: 8106540 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-0223 (Electronic) Linking ISSN: 01973851 NLM ISO Abbreviation: Prenat Diagn Subsets: MEDLINE

مواضيع طبية MeSH: Heart Defects, Congenital*/genetics , Heart Defects, Congenital*/diagnosis , Exome Sequencing*/methods , Prenatal Diagnosis*/methods, Humans ; Female ; Pregnancy

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دورية أكاديمية

Expanding Access to Noninvasive Prenatal Diagnosis for Monogenic Conditions to Consanguineous Families.

المؤلفون: Hanson B; North Thames Genomic Laboratory Hub, Great Ormond Street NHS Foundation Trust, London, United Kingdom., Shaw J; North Thames Genomic Laboratory Hub, Great Ormond Street NHS Foundation Trust, London, United Kingdom., Povarnitsyn N; North Thames Genomic Laboratory Hub, Great Ormond Street NHS Foundation Trust, London, United Kingdom., Bowns B; West Midlands Regional Genetics Laboratory, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, United Kingdom., Young E; West Midlands Regional Genetics Laboratory, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, United Kingdom., Gerrish A; West Midlands Regional Genetics Laboratory, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, United Kingdom., Allen S; West Midlands Regional Genetics Laboratory, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, United Kingdom., Scotchman E; North Thames Genomic Laboratory Hub, Great Ormond Street NHS Foundation Trust, London, United Kingdom., Chitty LS; North Thames Genomic Laboratory Hub, Great Ormond Street NHS Foundation Trust, London, United Kingdom.; Genetic and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, United Kingdom., Chandler NJ; North Thames Genomic Laboratory Hub, Great Ormond Street NHS Foundation Trust, London, United Kingdom.

المصدر: Clinical chemistry [Clin Chem] 2024 May 02; Vol. 70 (5), pp. 727-736.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 9421549 Publication Model: Print Cited Medium: Internet ISSN: 1530-8561 (Electronic) Linking ISSN: 00099147 NLM ISO Abbreviation: Clin Chem Subsets: MEDLINE

مواضيع طبية MeSH: Consanguinity* , Noninvasive Prenatal Testing*/methods , Haplotypes*, Humans ; Female ; Pregnancy ; Polymorphism, Single Nucleotide ; High-Throughput Nucleotide Sequencing ; Cell-Free Nucleic Acids/genetics ; Prenatal Diagnosis/methods ; Male

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دورية أكاديمية

Current controversy in prenatal diagnosis: The use of cfDNA to screen for monogenic conditions in low risk populations is ready for clinical use.

المؤلفون: Vora NL; University of North Carolina at Chapel Hill School of Medicine, Chapel Hill, North Carolina, USA., Langlois S; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada., Chitty LS; Genetics and Genomic Medicine, UCL Institute of Child Health and Great Ormond Street NHS Foundation Trust, London, England.

المصدر: Prenatal diagnosis [Prenat Diagn] 2024 Apr; Vol. 44 (4), pp. 389-397. Date of Electronic Publication: 2023 Nov 22.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Wiley Country of Publication: England NLM ID: 8106540 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-0223 (Electronic) Linking ISSN: 01973851 NLM ISO Abbreviation: Prenat Diagn Subsets: MEDLINE

مواضيع طبية MeSH: Cell-Free Nucleic Acids*, Pregnancy ; Humans ; Female ; Prenatal Diagnosis/methods ; Risk Factors

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10

دورية أكاديمية

'Something that helped the whole picture': Experiences of parents offered rapid prenatal exome sequencing in routine clinical care in the English National Health Service.

المؤلفون: McInnes-Dean H; Antenatal Results and Choices, London, UK.; North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, UK., Mellis R; North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, UK., Daniel M; North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, UK., Walton H; Department of Applied Health Research, University College London, London, UK., Baple EL; RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK.; Peninsula Clinical Genetics Service, School, Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK., Bertoli M; Northern Genetics Service, Newcastle upon Tyne, UK., Fisher J; Antenatal Results and Choices, London, UK., Gajewska-Knapik K; Department of Obstetrics and Gynaecology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK., Holder-Espinasse M; Clinical Genetics Department, Guy's Hospital, Guy's & St Thomas' NHS Foundation Trust, London, UK., Lafarge C; School of Human and Social Sciences, University of West London, London, UK., Leeson-Beevers K; Alström Syndrome UK, Torquay, UK., McEwan A; Department of Obstetrics and Gynaecology, Nottingham University Hospitals, Nottingham, UK., Pandya P; Elizabeth Garrett Anderson Institute for Women's Health, University College London, London, UK.; Fetal Medicine Unit, University College London Hospitals, London, UK., Parker M; The Ethox Centre, Nuffield Department of Population Health and Wellcome Centre for Ethics and Humanities, University of Oxford, Oxford, UK., Peet S; Genetic Alliance UK, London, UK., Roberts L; Genetic Alliance UK, London, UK., Sankaran S; School of Life Course and Population Sciences, Kings College London, St Thomas' Hospital, London, UK.; Department of Women and Children Health, Evelina Women & Children's Hospital Guy's and St Thomas' NHS Foundation Trust, London, UK., Smith A; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester, UK., Tapon D; Queen Charlotte's & Chelsea Hospital, Imperial College Healthcare NHS Trust, London, UK., Wu WH; North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, UK., Wynn SL; Unique - Rare Chromosome Disorder Support Group, Oxted, UK., Chitty LS; North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, UK., Hill M; North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, UK., Peter M; North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, UK.

المصدر: Prenatal diagnosis [Prenat Diagn] 2024 Apr; Vol. 44 (4), pp. 465-479. Date of Electronic Publication: 2024 Mar 05.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley Country of Publication: England NLM ID: 8106540 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-0223 (Electronic) Linking ISSN: 01973851 NLM ISO Abbreviation: Prenat Diagn Subsets: MEDLINE

مواضيع طبية MeSH: State Medicine* , Parents*/psychology, Pregnancy ; Humans ; Male ; Female ; Exome Sequencing ; England ; Counseling ; Qualitative Research

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