نتائج البحث - "Occipital horn"

1

رسالة جامعية

Identifying and characterising novel genomic variants and disease mechanisms in patients with rare and novel diseases

المؤلفون: Harkness, John

المساهمون: Hubbard, Simon, Newman, William, Banka, Siddharth

مصطلحات موضوعية: ATP7A, Urorectal Septum Malformation Sequence, RCC1, Occipital Horn Syndrome, Fever-Associated Axonal Neuropathy, Urofacial Syndrome, NGS, Missing Heritability, Rare Disease, Genomics, EBF3

الوصول الحر: https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.886105Test

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2

دورية أكاديمية

Deep intronic variant causes aberrant splicing of ATP7A in a family with a variable occipital horn syndrome phenotype

المؤلفون: Harkness, J. Robert, Thomas, Huw B., Urquhart, Jill E., Jamieson, Peter, O'Keefe, Raymond T., Kingston, Helen M., Deshpande, Charulata, Newman, William G.

المصدر: Harkness , J R , Thomas , H B , Urquhart , J E , Jamieson , P , O'Keefe , R T , Kingston , H M , Deshpande , C & Newman , W G 2024 , ' Deep intronic variant causes aberrant splicing of ATP7A in a family with a variable occipital horn syndrome phenotype ' , European journal of medical genetics , vol. 67 , 104907 . https://doi.org/10.1016/j.ejmg.2023.104907Test

مصطلحات موضوعية: ATP7A, Deep intronic variant, Genome, Menkes disease, Non-coding, Occipital horn syndrome, Rare disease, Splicing

العلاقة: https://research.manchester.ac.uk/en/publications/ccc32a31-ab7b-48e8-9e8a-c35502b49e0bTest

الإتاحة: https://doi.org/10.1016/j.ejmg.2023.104907Test
https://research.manchester.ac.uk/en/publications/ccc32a31-ab7b-48e8-9e8a-c35502b49e0bTest
http://www.scopus.com/inward/record.url?scp=85181260168&partnerID=8YFLogxKTest
https://www.mendeley.com/catalogue/d00564bd-ebb5-37e1-8e39-4a848c83160cTest/

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3

دورية أكاديمية

Orthopaedic interventions in occipital horn syndrome: a rare case of mutation in ATP7A gene

المؤلفون: Agata Kaczmarek, Maciej Kasprzyk, Aleksander Koch, Arthur Szymanski

المصدر: Egyptian Journal of Medical Human Genetics, Vol 23, Iss 1, Pp 1-5 (2022)

مصطلحات موضوعية: Occipital horn syndrome, Connective tissue disorder, Exostosis, Joint hypermobility, Medicine (General), R5-920, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2090-2441Test

الوصول الحر: https://doaj.org/article/40b71196461348c498a1f0a3829c5f61Test

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النص الكامل

4

دورية أكاديمية

Ventricular volume changes after successful shunting in hydrocephalic infants

المؤلفون: Tarek Mohamed Hasanin, Ahmed Said Mansour, Saeed Esmaeel Alemam, Hossam Abd-Elhakim Alnoamany, Mohammed Leithy Alam-Eldien

المصدر: Egyptian Journal of Neurosurgery, Vol 35, Iss 1, Pp 1-5 (2020)

مصطلحات موضوعية: Fronto-occipital horn ratio, Hydrocephalus, Shunt operation, Volumetric changes, Surgery, RD1-811, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s41984-020-00075-wTest; https://doaj.org/toc/2520-8225Test

الوصول الحر: https://doaj.org/article/76f772c50d8543d4bb553bc7c9b4a781Test

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النص الكامل

5

دورية أكاديمية

Occipital Horn Syndrome as a Result of Splice Site Mutations in ATP7A. No Activity of ATP7A Splice Variants Missing Exon 10 or Exon 15

المؤلفون: Lisbeth Birk Møller, Mie Mogensen, David D. Weaver, Per Amstrup Pedersen

المصدر: Frontiers in Molecular Neuroscience, Vol 14 (2021)

مصطلحات موضوعية: ATP7A, Menkes disease, occipital horn syndrome, genotype-phenotype, splice site mutations, splice-variant, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fnmol.2021.532291/fullTest; https://doaj.org/toc/1662-5099Test

الوصول الحر: https://doaj.org/article/7ea7a548def74c72bf28dd9cc4efaef1Test

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النص الكامل

6

دورية أكاديمية

Copper Toxicity Associated With an ATP7A-Related Complex Phenotype

المؤلفون: Natera-de Benito, Daniel, Sola, Abel, Sousa, Paulo Rego, Boronat, Susana, Expósito-Escudero, Jessica, Carrera-García, Laura, Ortez, Carlos, Jou, Cristina, Muchart, Jordi, Rebollo, Monica, Armstrong, Judith, Colomer, Jaume, Garcia-Cazorla, Àngels, Hoenicka, Janet, Palau, Francesc, Nascimento, Andres

مصطلحات موضوعية: ATP7A, ATP7B, copper replacement therapy, distal hereditary motor neuropathy, occipital horn syndrome, Portugal, Região Autónoma da Madeira

العلاقة: www.elsevier.com/locate/pnu; Pediatric Neurology 119 (2021) 40e44; http://hdl.handle.net/10400.26/36508Test

الإتاحة: https://doi.org/10.1016/j.pediatrneurol.2021.03.005Test
http://hdl.handle.net/10400.26/36508Test

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7

دورية أكاديمية

Occipital Horn Syndrome as a Result of Splice Site Mutations in ATP7A. No Activity of ATP7A Splice Variants Missing Exon 10 or Exon 15

المؤلفون: Birk Møller, Lisbeth, Mogensen, Mie, Weaver, David D., Pedersen, Per Amstrup

المساهمون: Medical and Molecular Genetics, School of Medicine

المصدر: PMC

مصطلحات موضوعية: Menkes disease, Occipital horn syndrome, Genotype-phenotype, Splice site mutations

وصف الملف: application/pdf

العلاقة: Frontiers in Molecular Neuroscience; Møller LB, Mogensen M, Weaver DD, Pedersen PA. Occipital Horn Syndrome as a Result of Splice Site Mutations in ATP7A. No Activity of ATP7A Splice Variants Missing Exon 10 or Exon 15. Front Mol Neurosci. 2021;14:532291. Published 2021 Apr 21. doi:10.3389/fnmol.2021.532291; https://hdl.handle.net/1805/30523Test

الإتاحة: https://doi.org/10.3389/fnmol.2021.532291Test
https://hdl.handle.net/1805/30523Test

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8

دورية أكاديمية

ATP7A mutation with occipital horns and distal motor neuropathy: A continuum

المؤلفون: Fradin, Melanie, Lavillaureix, Alinoe, Jaillard, Sylvie, Quelin, Chloe, Sauleau, Paul, Minot, Marie-Christine, Menard, Dominique, Edan, Gilles, Ceballos, Irene, Tréguier, Catherine, Proisy, Maia, Magdelaine, Corinne, Lia, A.-S., Odent, Sylvie, Pasquier, Laurent

المساهمون: Centre Hospitalier Universitaire de Rennes CHU Rennes = Rennes University Hospital Ponchaillou, Centre de référence Maladies Rares CLAD-Ouest Rennes, Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Centre d'Investigation Clinique Rennes (CIC), Université de Rennes (UR)-Centre Hospitalier Universitaire de Rennes CHU Rennes = Rennes University Hospital Ponchaillou -Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital Necker - Enfants Malades AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), CHU Limoges

المصدر: ISSN: 1769-7212 ; European Journal of Medical Genetics ; https://hal.science/hal-03006935Test ; European Journal of Medical Genetics, 2020, 63 (12), pp.104087. ⟨10.1016/j.ejmg.2020.104087⟩.

مصطلحات موضوعية: ATP7A, Dysautonomia, Menkes disease, Occipital horn syndrome, X-linked distal spinal muscular atrophy-3, [SDV]Life Sciences [q-bio]

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33137485; hal-03006935; https://hal.science/hal-03006935Test; https://hal.science/hal-03006935/documentTest; https://hal.science/hal-03006935/file/S1769721220307977.pdfTest; PII: S1769-7212(20)30797-7; PUBMED: 33137485

الإتاحة: https://doi.org/10.1016/j.ejmg.2020.104087Test
https://hal.science/hal-03006935Test
https://hal.science/hal-03006935/documentTest
https://hal.science/hal-03006935/file/S1769721220307977.pdfTest

View record in BASE