المؤلفون: Meester JAN; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium., Hebert A; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium., Bastiaansen M; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium., Rabaut L; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium., Bastianen J; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium., Boeckx N; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium., Ashcroft K; Department of Clinical Genetics, Chapel Allerton Hospital, Leeds Teaching Hospitals, NHS Foundation Trust, Leeds, UK., Atwal PS; Genomic and Personalized Medicine, Atwal Clinic, Palm Beach, FL, USA., Benichou A; Department of Internal and Vascular Medicine, CHU Nantes, Nantes Université, Nantes, France., Billon C; Service de Médecine Génomique des Maladies Rares, Groupe Hospitalier Universitaire Centre, Paris, Assistance Publique Hôpitaux de Paris, Paris, France.; Université de Paris Cité, Inserm, PARCC, Paris, France., Blankensteijn JD; Department of Vascular Surgery, Amsterdam University Medical Center, Amsterdam, The Netherlands., Brennan P; Northern Genetics Service, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Bucks SA; GeneDx LLC, Gaithersburg, MD, USA., Campbell IM; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Conrad S; Service de Génétique Médicale, CHU Nantes, Nantes, France., Curtis SL; Bristol Heart Institute, University Hospitals Bristol & Weston NHS Foundation Trust, Bristol, UK., Dasouki M; Department of Medical Genetics & Genomics, AdventHealth Medical Group, Orlando, FL, USA., Dent CL; South West Genomic Laboratory Hub, Bristol Genetics Laboratory, Bristol, UK., Eden J; North West Genomic Laboratory Hub, Manchester Centre for Genomic Medicine, Manchester, UK., Goel H; Hunter Genetics, Waratah, NSW, Australia., Hartill V; Department of Clinical Genetics, Chapel Allerton Hospital, Leeds Teaching Hospitals, NHS Foundation Trust, Leeds, UK.; Leeds Institute of Medical Research, University of Leeds, Leeds, UK., Houweling AC; Department of Human Genetics, Amsterdam University Medical Center, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands., Isidor B; Service de Génétique Médicale, CHU Nantes, Nantes, France., Jackson N; Clinical Genetics Service, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, UK., Koopman P; Department of Cardiology, Heart Centre Hasselt, Jessa Hospital, Hasselt, Belgium., Korpioja A; Department of Clinical Genetics, Research Unit of Clinical Medicine, Medical Research Center Oulu, Oulu University Hospital and University of Oulu, Oulu, Finland., Kraatari-Tiri M; Department of Clinical Genetics, Research Unit of Clinical Medicine, Medical Research Center Oulu, Oulu University Hospital and University of Oulu, Oulu, Finland., Kuulavainen L; Department of Medical and Clinical Genetics, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Lee K; Department of Medical Genetics & Genomics, AdventHealth Medical Group, Orlando, FL, USA., Low KJ; Clinical Genetics Department, University Hospitals Bristol and Weston NHS Foundation Trust St Michael's Hospital, Bristol, UK.; University of Bristol, Canynge Hall, Bristol, UK., Lu AC; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., McManus ML; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Oakley SP; John Hunter Hospital, New Lambton Heights, NSW, Australia.; College of Health, Medicine and Wellbeing, School of Medicine, University of Newcastle, Newcastle, NSW, Australia., Oliver J; Genomic Diagnostics Laboratory, Manchester Centre for Genomic Medicine, Manchester, UK., Organ NM; John Hunter Hospital, New Lambton Heights, NSW, Australia., Overwater E; Department of Human Genetics, Amsterdam University Medical Center, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.; Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands., Revencu N; Center for Human Genetics, Cliniques Universitaires Saint-Luc and Université Catholique de Louvain, Brussels, Belgium., Trainer AH; Department of Genomic Medicine, The Royal Melbourne Hospital and University of Melbourne, Parkville, Melbourne, VIC, Australia., Trivedi B; Department of Medical Genetics & Genomics, AdventHealth Medical Group, Orlando, FL, USA., Turner CLS; Department of Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK., Whittington R; South West Genomic Laboratory Hub, Bristol Genetics Laboratory, Bristol, UK., Zankl A; Children's Hospital at Westmead Clinical School, Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia.; Department of Clinical Genetics, Children's Hospital at Westmead, Sydney, NSW, Australia.; Garvan Institute of Medical Research, Sydney, NSW, Australia., Zentner D; Department of Genomic Medicine, The Royal Melbourne Hospital and University of Melbourne, Parkville, Melbourne, VIC, Australia., Van Laer L; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium., Verstraeten A; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium., Loeys BL; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium. bart.loeys@uantwerpen.be.; Department of Clinical Genetics, Radboud University Medical Center, Nijmegen, The Netherlands. bart.loeys@uantwerpen.be.

المصدر: NPJ genomic medicine [NPJ Genom Med] 2024 Mar 26; Vol. 9 (1), pp. 22. Date of Electronic Publication: 2024 Mar 26.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University Country of Publication: England NLM ID: 101685193 Publication Model: Electronic Cited Medium: Internet ISSN: 2056-7944 (Electronic) Linking ISSN: 20567944 NLM ISO Abbreviation: NPJ Genom Med Subsets: PubMed not MEDLINE

المؤلفون: Fazeli E; Department of Biomedicine, Aarhus University, Høegh-Guldbergs Gade 10, 8000, Aarhus C, Denmark., Child DD; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA, 98109, USA., Bucks SA; Department of Neurology, University of Washington, Seattle, WA, 98195, USA., Stovarsky M; Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, WA, 98195, USA., Edwards G; Department of Neurology, University of Washington, Seattle, WA, 98195, USA., Rose SE; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA, 98109, USA., Yu CE; Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, WA, 98195, USA.; Geriatric Research Education and Clinical Center (GRECC), Veterans Administration Health Care System, Seattle, WA, 98108, USA., Latimer C; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA, 98109, USA., Kitago Y; Ann Romney Center for Neurologic Diseases, Harvard Medical School and Brigham and Women's Hospital, Boston, MA, 02115, USA., Bird T; Department of Neurology, University of Washington, Seattle, WA, 98195, USA.; Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, WA, 98195, USA.; Geriatric Research Education and Clinical Center (GRECC), Veterans Administration Health Care System, Seattle, WA, 98108, USA., Jayadev S; Department of Neurology, University of Washington, Seattle, WA, 98195, USA. sumie@uw.edu., Andersen OM; Department of Biomedicine, Aarhus University, Høegh-Guldbergs Gade 10, 8000, Aarhus C, Denmark. o.andersen@biomed.au.dk., Young JE; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA, 98109, USA. jeyoung@uw.edu.

المصدر: Acta neuropathologica [Acta Neuropathol] 2024 Jan 20; Vol. 147 (1), pp. 20. Date of Electronic Publication: 2024 Jan 20.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 0412041 Publication Model: Electronic Cited Medium: Internet ISSN: 1432-0533 (Electronic) Linking ISSN: 00016322 NLM ISO Abbreviation: Acta Neuropathol Subsets: MEDLINE

مواضيع طبية MeSH: Alzheimer Disease*/genetics, Humans ; Aged ; Gene Frequency ; Genetic Predisposition to Disease ; Membrane Transport Proteins/genetics ; Mutation, Missense ; LDL-Receptor Related Proteins/genetics ; Polymorphism, Single Nucleotide

المؤلفون: Fazeli E; Department of Biomedicine, Aarhus University, Høegh-Guldbergs Gade 10, DK8000 AarhusC, Denmark., Child DD; Department of Laboratory Medicine and Pathology, University of Washington, Seattle Washington USA., Bucks SA; Department of Neurology, University of Washington, Seattle Washington USA., Stovarsky M; Department of Medicine, Division of Medical Genetics University of Washington, Seattle Washington USA., Edwards G; Department of Neurology, University of Washington, Seattle Washington USA., Rose SE; Department of Laboratory Medicine and Pathology, University of Washington, Seattle Washington USA., Yu CE; Department of Medicine, Division of Medical Genetics University of Washington, Seattle Washington USA.; Geriatric Research Education and Clinical Center (GRECC), Veterans Administration Health Care System., Latimer C; Department of Laboratory Medicine and Pathology, University of Washington, Seattle Washington USA., Kitago Y; Ann Romney Center for Neurologic Diseases, Harvard Medical School and Brigham and Women's Hospital, Boston, MA 02115., Bird T; Department of Neurology, University of Washington, Seattle Washington USA.; Department of Medicine, Division of Medical Genetics University of Washington, Seattle Washington USA.; Geriatric Research Education and Clinical Center (GRECC), Veterans Administration Health Care System., Jayadev S; Department of Neurology, University of Washington, Seattle Washington USA., Andersen OM; Department of Biomedicine, Aarhus University, Høegh-Guldbergs Gade 10, DK8000 AarhusC, Denmark., Young JE; Department of Laboratory Medicine and Pathology, University of Washington, Seattle Washington USA.

المصدر: BioRxiv : the preprint server for biology [bioRxiv] 2023 Nov 13. Date of Electronic Publication: 2023 Nov 13.

نوع المنشور: Preprint

بيانات الدورية: Country of Publication: United States NLM ID: 101680187 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: bioRxiv Subsets: PubMed not MEDLINE

المؤلفون: Korvatska O; Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, USA. Electronic address: ok5@uw.edu., Bucks SA; Department of Neurology, University of Washington, Seattle, USA; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, USA., Yoda RA; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, USA., Nolan A; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, USA., Dorschner MO; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, USA; Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, USA., Tsuang D; Geriatric Research, Education and Clinical Center (GRECC), VA Puget Sound Medical Center, Seattle, USA., Jayadev S; Department of Neurology, University of Washington, Seattle, USA., Raskind WH; Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, USA; Geriatric Research, Education and Clinical Center (GRECC), VA Puget Sound Medical Center, Seattle, USA; Mental Illness Research, Education and Clinical Center (MIRECC), VA Puget Sound Medical Center, Seattle, USA., Bird TD; Department of Neurology, University of Washington, Seattle, USA; Geriatric Research, Education and Clinical Center (GRECC), VA Puget Sound Medical Center, Seattle, USA.

المصدر: Journal of the neurological sciences [J Neurol Sci] 2023 Sep 15; Vol. 452, pp. 120763. Date of Electronic Publication: 2023 Aug 07.

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

بيانات الدورية: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 0375403 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-5883 (Electronic) Linking ISSN: 0022510X NLM ISO Abbreviation: J Neurol Sci Subsets: MEDLINE

مواضيع طبية MeSH: Alzheimer Disease*/complications , Alzheimer Disease*/diagnostic imaging , Alzheimer Disease*/genetics , CADASIL*/complications , CADASIL*/diagnostic imaging , CADASIL*/genetics , Dementia, Vascular* , Leukoencephalopathies*, Humans ; Cerebral Infarction ; Receptor, Notch3/genetics

المؤلفون: Kandhaya-Pillai R; Department of Pathology, University of Washington, Seattle, WA, USA., Hisama FM; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA, USA., Bucks SA; Department of Laboratory Medicine, University of Washington, Seattle, WA, USA., Yarzar S; Department of Medicine, University of Medicine 2, Yangon, Myanmar., Korovou H; Phaze SA, Athens, Greece., Martin GM; Department of Pathology, University of Washington, Seattle, WA, USA., Oshima J; Department of Pathology, University of Washington, Seattle, WA, USA.

المصدر: Aging pathobiology and therapeutics [Aging Pathobiol Ther] 2020; Vol. 2 (2), pp. 101-105.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Ant Publishing Corporation Country of Publication: United States NLM ID: 101769499 Publication Model: Print Cited Medium: Internet ISSN: 2690-1803 (Electronic) Linking ISSN: 26901803 NLM ISO Abbreviation: Aging Pathobiol Ther Subsets: PubMed not MEDLINE

المؤلفون: Braggin JE; Department of Neurology University of Washington Seattle Washington., Bucks SA; Department of Neurology University of Washington Seattle Washington., Course MM; Division of Medical Genetics Department of Medicine University of Washington Seattle Washington., Smith CL; Department of Neurology University of Washington Seattle Washington., Sopher B; Department of Neurology University of Washington Seattle Washington., Osnis L; Department of Neurology University of Washington Seattle Washington., Shuey KD; Department of Neurology University of Washington Seattle Washington., Domoto-Reilly K; Department of Neurology University of Washington Seattle Washington., Caso C; Department of Neurology University of Washington Seattle Washington., Kinoshita C; Department of Neurological Surgery University of Washington Seattle Washington., Scherpelz KP; Department of Pathology University of Washington Seattle Washington., Cross C; School of Medicine University of Utah Salt Lake City Utah., Grabowski T; Department of Neurology University of Washington Seattle Washington.; Department of Radiology University of Washington Seattle Washington., Nik SHM; Genetics and Evolution University of Adelaide Adelaide South Australia., Newman M; Genetics and Evolution University of Adelaide Adelaide South Australia., Garden GA; Department of Neurology University of Washington Seattle Washington.; Department of Pathology University of Washington Seattle Washington., Leverenz JB; Cleveland Lou Ruvo Center for Brain Health Cleveland OH., Tsuang D; Department of Neurology University of Washington Seattle Washington.; Division of Medical Genetics Department of Medicine University of Washington Seattle Washington.; Department of Psychiatry & Behavioral Sciences University of Washington Seattle Washington.; Geriatric Research, Education, and Clinical Center VA Puget Sound Health Care System Seattle Washington., Latimer C; Department of Pathology University of Washington Seattle Washington., Gonzalez-Cuyar LF; Department of Pathology University of Washington Seattle Washington., Keene CD; Department of Pathology University of Washington Seattle Washington., Morrison RS; Department of Neurological Surgery University of Washington Seattle Washington., Rhoads K; Department of Neurology University of Washington Seattle Washington., Wijsman EM; Division of Medical Genetics Department of Medicine University of Washington Seattle Washington.; Univeristy of Washington Department of Biostatistics Seattle Washington., Dorschner MO; Department of Pathology University of Washington Seattle Washington.; Department of Psychiatry & Behavioral Sciences University of Washington Seattle Washington.; UW Medicine Center for Precision Diagnostics University of Washington Seattle Washington., Lardelli M; Genetics and Evolution University of Adelaide Adelaide South Australia., Young JE; Department of Pathology University of Washington Seattle Washington., Valdmanis PN; Division of Medical Genetics Department of Medicine University of Washington Seattle Washington., Bird TD; Department of Neurology University of Washington Seattle Washington.; Division of Medical Genetics Department of Medicine University of Washington Seattle Washington.; Geriatric Research, Education, and Clinical Center VA Puget Sound Health Care System Seattle Washington., Jayadev S; Department of Neurology University of Washington Seattle Washington.; Division of Medical Genetics Department of Medicine University of Washington Seattle Washington.

المصدر: Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2019 Mar 10; Vol. 6 (4), pp. 762-777. Date of Electronic Publication: 2019 Mar 10 (Print Publication: 2019).

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Wiley Periodicals, Inc on behalf of American Neurological Association Country of Publication: United States NLM ID: 101623278 Publication Model: eCollection Cited Medium: Print ISSN: 2328-9503 (Print) Linking ISSN: 23289503 NLM ISO Abbreviation: Ann Clin Transl Neurol

مواضيع طبية MeSH: Alternative Splicing/*genetics , Alzheimer Disease/*genetics , Mutation/*genetics , Presenilin-2/*genetics, Adult ; Alzheimer Disease/diagnosis ; Amyloid Precursor Protein Secretases/genetics ; Amyloid beta-Peptides/genetics ; Amyloid beta-Protein Precursor/genetics ; Humans ; Male ; Middle Aged ; Peptide Fragments/genetics ; Presenilin-1/genetics

المؤلفون: Stone JS; Department of Otolaryngology-Head and Neck Surgery, Virginia Merrill Bloedel Hearing Research Center, University of Washington, Seattle, WA, USA., Wisner SR; Department of Otolaryngology-Head and Neck Surgery, Virginia Merrill Bloedel Hearing Research Center, University of Washington, Seattle, WA, USA., Bucks SA; Department of Otolaryngology-Head and Neck Surgery, Virginia Merrill Bloedel Hearing Research Center, University of Washington, Seattle, WA, USA., Mellado Lagarde MM; Department of Developmental Neurobiology, St. Jude Children's Research Hospital, Memphis, TN, USA., Cox BC; Departments of Pharmacology and Surgery, Division of Otolaryngology, Southern Illinois University School of Medicine, Springfield, IL, USA. bcox@siumed.edu.

المصدر: Journal of the Association for Research in Otolaryngology : JARO [J Assoc Res Otolaryngol] 2018 Aug; Vol. 19 (4), pp. 381-399. Date of Electronic Publication: 2018 Jun 04.

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

بيانات الدورية: Publisher: Springer-Verlag New York Inc Country of Publication: United States NLM ID: 100892857 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1438-7573 (Electronic) Linking ISSN: 14387573 NLM ISO Abbreviation: J Assoc Res Otolaryngol Subsets: MEDLINE

مواضيع طبية MeSH: Integrases/*physiology , Receptors, Estrogen/*physiology , Saccule and Utricle/*physiology, Animals ; Female ; Hair Cells, Vestibular/physiology ; Male ; Membrane Proteins/analysis ; Mice ; Mice, Inbred C57BL ; SOX9 Transcription Factor/analysis ; Saccule and Utricle/cytology

المؤلفون: Bucks SA; Department of Otolaryngology-Head and Neck Surgery, Virginia Merrill Bloedel Hearing Research Center, University of Washington, Seattle, United States., Cox BC; Department of Pharmacology, Southern Illinois University School of Medicine, Springfield, United States.; Department of Surgery, Division of Otolaryngology, Southern Illinois University School of Medicine, Springfield, United States., Vlosich BA; Department of Otolaryngology-Head and Neck Surgery, Virginia Merrill Bloedel Hearing Research Center, University of Washington, Seattle, United States., Manning JP; Department of Otolaryngology-Head and Neck Surgery, Virginia Merrill Bloedel Hearing Research Center, University of Washington, Seattle, United States., Nguyen TB; Department of Otolaryngology-Head and Neck Surgery, Virginia Merrill Bloedel Hearing Research Center, University of Washington, Seattle, United States., Stone JS; Department of Otolaryngology-Head and Neck Surgery, Virginia Merrill Bloedel Hearing Research Center, University of Washington, Seattle, United States.

المصدر: ELife [Elife] 2017 Mar 06; Vol. 6. Date of Electronic Publication: 2017 Mar 06.

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

بيانات الدورية: Publisher: eLife Sciences Publications, Ltd Country of Publication: England NLM ID: 101579614 Publication Model: Electronic Cited Medium: Internet ISSN: 2050-084X (Electronic) Linking ISSN: 2050084X NLM ISO Abbreviation: Elife Subsets: MEDLINE

مواضيع طبية MeSH: Cell Death* , Regeneration*, Hair Cells, Vestibular/*physiology, Animals ; Mice