المؤلفون: Tooze, RS, Miller, KA, Swagemakers, SMA, Calpena, E, McGowan, SJ, Boute, O, Collet, C, Johnson, D, Laffargue, F, de Leeuw, N, Morton, JV, Noons, P, Ockeloen, CW, Phipps, JM, Tan, TY, Timberlake, AT, Vanlerberghe, C, Wall, SA, Weber, A, Wilson, LC, Zackai, EH, Mathijssen, IMJ, Twigg, SRF, Wilkie, AOM

المساهمون: Pathology, Plastic and Reconstructive Surgery and Hand Surgery

المصدر: Genetics in Medicine, 25(9):100883. Lippincott Williams & Wilkins

مصطلحات موضوعية: Genetics (clinical)

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::344a46148d5e8f909edaba47a9af5b4e
https://doi.org/10.1016/j.gim.2023.100883

المؤلفون: Watts LM; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Bertoli M; Northern Genetics Service, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Attie-Bitach T; Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants Malades, Paris, France.; Laboratoire de biologie médicale multisites SeqOIA, Paris, France., Roux N; Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants Malades, Paris, France., Rausell A; Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants Malades, Paris, France.; Laboratoire de biologie médicale multisites SeqOIA, Paris, France., Paschal CR; Seattle Children's Hospital, Seattle, WA, USA., Zambonin JL; Provincial Medical Genetics Program, BC Women's Hospital and Health Centre, Vancouver, BC, Canada., Curry CJ; University of California San Francisco/Fresno, Fresno, CA, USA.; Genetic Medicine, Community Regional Medical Center, Fresno, CA, USA., Martin B; MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, UK.; Institut de Pathologie et de Génétique, Gosselies, Belgium., Tooze RS; MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, UK., Hawkes L; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Kini U; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Twigg SRF; MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, UK., Wilkie AOM; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK. andrew.wilkie@imm.ox.ac.uk.; MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, UK. andrew.wilkie@imm.ox.ac.uk.

المصدر: European journal of human genetics : EJHG [Eur J Hum Genet] 2024 Jul; Vol. 32 (7), pp. 864-870. Date of Electronic Publication: 2024 May 17.

نوع المنشور: Journal Article; Case Reports

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Acrocephalosyndactylia*/genetics , Acrocephalosyndactylia*/pathology , Phenotype*, Adolescent ; Child ; Child, Preschool ; Female ; Humans ; Infant ; Male ; Membrane Proteins/genetics ; Mutation ; Pedigree ; rab GTP-Binding Proteins/genetics

المؤلفون: Miller KA; MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK., Cruz Walma DA; Centre for Medicines Discovery, University of Oxford, Oxford, UK.; Cell Biology Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, Maryland, USA., Pinkas DM; Centre for Medicines Discovery, University of Oxford, Oxford, UK.; Department of Biological Sciences, Universidad Loyola Andalucía, Seville, Spain., Tooze RS; MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK., Bufton JC; Centre for Medicines Discovery, University of Oxford, Oxford, UK., Richardson W; Centre for Medicines Discovery, University of Oxford, Oxford, UK., Manning CE; Centre for Medicines Discovery, University of Oxford, Oxford, UK., Hunt AE; Centre for Medicines Discovery, University of Oxford, Oxford, UK., Cros J; Centre for Medicines Discovery, University of Oxford, Oxford, UK., Hartill V; Leeds Institute of Medical Research, University of Leeds, Leeds, UK.; Yorkshire Regional Genetics Service, Leeds Teaching Hospitals NHS Trust, Chapel Allerton Hospital, Leeds, UK., Parker MJ; Sheffield Clinical Genomics Service, Sheffield Children's Hospital NHS Foundation Trust, Sheffield, UK., McGowan SJ; MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK., Twigg SRF; MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK., Chalk R; Centre for Medicines Discovery, University of Oxford, Oxford, UK., Staunton D; Department of Biochemistry, University of Oxford, Oxford, UK., Johnson D; Craniofacial Unit, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Wilkie AOM; MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.; Craniofacial Unit, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Bullock AN; Centre for Medicines Discovery, University of Oxford, Oxford, UK alex.bullock@cmd.ox.ac.uk.

المصدر: Journal of medical genetics [J Med Genet] 2024 Apr 19; Vol. 61 (5), pp. 490-501. Date of Electronic Publication: 2024 Apr 19.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: BTB-POZ Domain* , Craniofacial Abnormalities*/genetics , Face*/abnormalities, Humans ; Abnormalities, Multiple ; Co-Repressor Proteins/genetics ; Ectodermal Dysplasia ; Mutation, Missense/genetics ; Syndrome

SCR Disease Name: Frontonasal dysplasia

المؤلفون: Tooze RS; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK., Calpena E; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK., Twigg SRF; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK., D'Arco F; Department of Radiology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Wakeling EL; North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Wilkie AOM; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK andrew.wilkie@imm.ox.ac.uk.

مؤلفون مشاركون: Genomics England Research Consortium

المصدر: Journal of medical genetics [J Med Genet] 2023 Jul; Vol. 60 (7), pp. 712-716. Date of Electronic Publication: 2022 Dec 21.

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

بيانات الدورية: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: Craniosynostoses*/genetics , Urinary Tract* , Ear, Inner*, Mice ; Animals ; Child ; Humans ; Adaptor Proteins, Signal Transducing/genetics ; Membrane Proteins/genetics ; Membrane Proteins/metabolism ; Phosphoproteins/genetics ; Mice, Knockout

المؤلفون: Tooze RS; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford OX3 9DS, UK., Calpena E; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford OX3 9DS, UK., Weber A; Liverpool Centre for Genomic Medicine, Liverpool Women's NHS Foundation Trust, Liverpool L8 7SS, UK., Wilson LC; North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK., Twigg SRF; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford OX3 9DS, UK., Wilkie AOM; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford OX3 9DS, UK.

المصدر: Genes [Genes (Basel)] 2023 Feb 28; Vol. 14 (3). Date of Electronic Publication: 2023 Feb 28.

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

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

مواضيع طبية MeSH: Craniosynostoses*/diagnosis , Craniosynostoses*/genetics , Craniosynostoses*/pathology, Child ; Humans ; Cranial Sutures

المؤلفون: Lippincott MF; Reproductive Endocrine Unit, Massachusetts General Hospital, Boston, MA. Electronic address: mlippincott@mgh.harvard.edu., Xu W; Reproductive Endocrine Unit, Massachusetts General Hospital, Boston, MA., Smith AA; Department of Pediatrics and Department of Cell and Developmental Biology, Feinberg School of Medicine, Northwestern University, Chicago, IL; Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL., Miao X; Cancer Research Program, Research Institute of the McGill University Health Centre, Department of Anatomy and Cell Biology, McGill University, Montréal, Quebec, Canada., Lafont A; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC., Shennib O; Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL., Farley GJ; Reproductive Endocrine Unit, Massachusetts General Hospital, Boston, MA., Sabbagh R; Reproductive Endocrine Unit, Massachusetts General Hospital, Boston, MA., Delaney A; Intramural Research Program, National Institutes of Health, Bethesda, MD., Stamou M; Reproductive Endocrine Unit, Massachusetts General Hospital, Boston, MA., Plummer L; Reproductive Endocrine Unit, Massachusetts General Hospital, Boston, MA., Salnikov K; Reproductive Endocrine Unit, Massachusetts General Hospital, Boston, MA., Georgopoulos NA; Division of Endocrinology-Department of Internal Medicine, University of Patras School of Health Sciences, Rio-Patras, Greece., Mericq V; Instituto de Investigaciones Materno Infantil (IDIMI), University of Chile, Santiago, Chile., Quinton R; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, United Kingdom., Mau-Them FT; Functional Unit 6254 Innovation in Genomic Diagnosis of Rare Diseases, CHU Dijon Bourgogne, Dijon, France., Nambot S; Centre de Référence Maladies Rares « Anomalies du Développement Et Syndrome Malformatifs » de L'Est, Hôpital D'Enfants, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Hamad A; Department of Clinical Genetics, Birmingham Women's and Children's Hospital NHS Foundation Trust, Birmingham, United Kingdom., Brittain H; Department of Clinical Genetics, Birmingham Women's and Children's Hospital NHS Foundation Trust, Birmingham, United Kingdom., Tooze RS; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, United Kingdom., Calpena E; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, United Kingdom., Wilkie AOM; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, United Kingdom., Willems M; Medical Genetic Department for Rare Diseases and Personalized Medicine, Reference Center AD SOOR, AnDDI-RARE, Groupe DI, Inserm U1298, INM, Montpellier University, Centre Hospitalier Universitaire de Montpellier, Montpellier, France., Crowley WF; The Endocrine Unit, Massachusetts General Hospital, Boston, MA., Balasubramanian R; Reproductive Endocrine Unit, Massachusetts General Hospital, Boston, MA., Lamarche-Vane N; Cancer Research Program, Research Institute of the McGill University Health Centre, Department of Anatomy and Cell Biology, McGill University, Montréal, Quebec, Canada., Davis EE; Department of Pediatrics and Department of Cell and Developmental Biology, Feinberg School of Medicine, Northwestern University, Chicago, IL; Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL., Seminara SB; Reproductive Endocrine Unit, Massachusetts General Hospital, Boston, MA.

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Dec; Vol. 24 (12), pp. 2501-2515. Date of Electronic Publication: 2022 Sep 30.

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

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

مواضيع طبية MeSH: Zebrafish*/genetics , Hypogonadism*/genetics, Animals ; Humans ; Gonadotropin-Releasing Hormone/genetics ; Repressor Proteins ; Guanine Nucleotide Exchange Factors ; GTPase-Activating Proteins/genetics

SCR Disease Name: Idiopathic Hypogonadotropic Hypogonadism

المؤلفون: Hyder Z; Genomics England, London, UK.; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, Greater Manchester, UK., Calpena E; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK., Pei Y; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK., Tooze RS; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK., Brittain H; Genomics England, London, UK.; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, UK., Twigg SRF; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK., Cilliers D; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Morton JEV; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, UK., McCann E; Department of Clinical Genetics, Liverpool Women's NHS Foundation Trust, Liverpool, UK., Weber A; Department of Clinical Genetics, Liverpool Women's NHS Foundation Trust, Liverpool, UK., Wilson LC; Clinical Genetics Service, Great Ormond Street Hospital, London, UK., Douglas AGL; Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Southampton, UK.; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK., McGowan R; West of Scotland Centre for Genomic Medicine, Queen Elizabeth University Hospital, Glasgow, UK., Need A; Genomics England, London, UK., Bond A; Genomics England, London, UK., Tavares ALT; Genomics England, London, UK., Thomas ERA; Genomics England, London, UK.; South East Regional Genetics Service, Guy's and St Thomas' NHS Trust, London, UK., Hill SL; Genomics Unit, NHS England & NHS Improvement, London, UK., Deans ZC; Genomics Unit, NHS England & NHS Improvement, London, UK., Boardman-Pretty F; Genomics England, London, UK., Caulfield M; Genomics England, London, UK.; William Harvey Research Institute, Queen Mary University of London, London, UK., Scott RH; Genomics England, London, UK. Richard.Scott@genomicsengland.co.uk.; Clinical Genetics Service, Great Ormond Street Hospital, London, UK. Richard.Scott@genomicsengland.co.uk., Wilkie AOM; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK. andrew.wilkie@imm.ox.ac.uk.; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK. andrew.wilkie@imm.ox.ac.uk.

مؤلفون مشاركون: Genomics England Research Consortium

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Dec; Vol. 23 (12), pp. 2360-2368. Date of Electronic Publication: 2021 Aug 25.

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

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

مواضيع طبية MeSH: Craniosynostoses*/diagnosis , Craniosynostoses*/genetics , Genetic Testing*, Base Sequence ; Chromosome Mapping ; Humans ; Rare Diseases/genetics