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المؤلفون: C. Loveday, A. Garrett, P. Law, S. Hanks, E. Poyastro-Pearson, J.W. Adlard, J. Barwell, J. Berg, A.F. Brady, C. Brewer, C. Chapman, J. Cook, R. Davidson, A. Donaldson, F. Douglas, L. Greenhalgh, A. Henderson, L. Izatt, A. Kumar, F. Lalloo, Z. Miedzybrodzka, P.J. Morrison, J. Paterson, M. Porteous, M.T. Rogers, L. Walker, D. Eccles, D.G. Evans, K. Snape, H. Hanson, R.S. Houlston, C. Turnbull, A. Ardern-Jones, J. Adlard, M. Ahmed, G. Attard, K. Bailey, E. Bancroft, C. Bardsley, D. Barton, M. Bartlett, L. Baxter, R. Belk, B. Bernhard, T. Bishop, L. Boyes, N. Bradshaw, S. Brant, G. Brice, G. Bromilow, C. Brooks, A. Bruce, B. Bulman, L. Burgess, J. Campbell, N. Canham, B. Castle, R. Cetnarskyj, O. Claber, N. Coates, T. Cole, A. Collins, S. Coulson, G. Crawford, D. Cruger, C. Cummings, L. D’Mello, L. Day, B. Dell, C. Dolling, H. Dorkins, S. Downing, S. Drummond, C. Dubras, J. Dunlop, S. Durrell, C. Eddy, M. Edwards, E. Edwards, J. Edwardson, R. Eeles, I. Ellis, F. Elmslie, G. Evans, B. Gibbons, C. Gardiner, N. Ghali, C. Giblin, S. Gibson, S. Goff, S. Goodman, D. Goudie, J. Grier, H. Gregory, S. Halliday, R. Hardy, C. Hartigan, T. Heaton, C. Higgins, S. Hodgson, T. Homfray, D. Horrigan, C. Houghton, L. Hughes, V. Hunt, L. Irvine, C. Jacobs, S. James, M. James, L. Jeffers, I. Jobson, W. Jones, M.J. Kennedy, S. Kenwrick, C. Kightley, C. Kirk, E. Kirk, E. Kivuva, K. Kohut, M. Kosicka-Slawinska, A. Kulkarni, N. Lambord, C. Langman, P. Leonard, S. Levene, S. Locker, P. Logan, M. Longmuir, A. Lucassen, V. Lyus, A. Magee, A. Male, S. Mansour, D. McBride, E. McCann, V. McConnell, M. McEntagart, C. McKeown, L. McLeish, D. McLeod, A. Melville, L. Mercer, C. Mercer, A. Mitra, V. Murday, A. Murray, K. Myhill, J. Myring, E. O'Hara, P. Pearson, G. Pichert, K. Platt, C. Pottinger, S. Price, L. Protheroe, S. Pugh, O. Quarrell, K. Randhawa, C. Riddick, L. Robertson, A. Robinson, V. Roffey-Johnson, M. Rogers, S. Rose, S. Rowe, A. Schofield, N. Rahman, S. Saya, G. Scott, J. Scott, A. Searle, S. Shanley, S. Sharif, A. Shaw, J. Shaw, J. Shea-Simonds, L. Side, J. Sillibourne, K. Simon, S. Simpson, S. Slater, S. Smalley, K. Smith, L. Snadden, J. Soloway, Y. Stait, B. Stayner, M. Steel, C. Steel, H. Stewart, D. Stirling, M. Thomas, S. Thomas, S. Tomkins, H. Turner, A. Vandersteen, E. Wakeling, F. Waldrup, C. Watt, S. Watts, A. Webber, C. Whyte, J. Wiggins, E. Williams, L. Winchester
المصدر: Breast and Ovarian Cancer Susceptibility Collaboration, Loveday, C, Law, P, Hanks, S, Poyastro-Pearson, E, Adlard, J W, Barwell, J, Berg, J, Brady, A F, Donaldson, A, Douglas, F, Greenhalgh, L, Izatt, L, Lalloo, F, Miedzybrodzka, Z, Morrison, P J, Porteous, M, Eccles, D, Evans, D G, Snape, K, Houlston, R S, Hanson, H, Turnbull, C, Rogers, M T, Walker, L, Brewer, C, Paterson, J, Kumar, A, Davidson, R, Chapman, C & Cook, J 2022, ' Analysis of rare disruptive germline mutations in 2135 enriched BRCA-negative breast cancers excludes additional high-impact susceptibility genes ', Annals of oncology : official journal of the European Society for Medical Oncology, vol. 33, no. 12, pp. 1318-1327 . https://doi.org/10.1016/j.annonc.2022.09.152Test
Breast and Ovarian Cancer Susceptibility Collaboration, Loveday, C, Garrett, A, Law, P, Hanks, S, Poyastro-Pearson, E, Adlard, J W, Barwell, J, Berg, J, Brady, A F, Brewer, C, Chapman, C, Cook, J, Davidson, R, Donaldson, A, Douglas, F, Greenhalgh, L, Henderson, A, Izatt, L, Kumar, A, Lalloo, F, Miedzybrodzka, Z, Morrison, P J, Paterson, J, Porteous, M, Rogers, M T, Walker, L, Eccles, D, Evans, D G, Snape, K, Hanson, H, Houlston, R S & Turnbull, C 2022, ' Analysis of rare disruptive germline mutations in 2,135 enriched BRCA-negative breast cancers excludes additional high-impact susceptibility genes ', Annals of oncology : official journal of the European Society for Medical Oncology, vol. 33, no. 12, pp. 1318-1327 . https://doi.org/10.1016/j.annonc.2022.09.152Testمصطلحات موضوعية: Adult, Ovarian Neoplasms, rare-variant burden testing, Whole exome sequencing, Breast Neoplasms, Triple Negative Breast Neoplasms, Hematology, breast cancer, SDG 3 - Good Health and Well-being, Oncology, Humans, Female, Genetic Predisposition to Disease, cancer susceptibility genes, whole-exome sequencing, Rare variant burden testing, Germ-Line Mutation, Retrospective Studies, genetic susceptibility
وصف الملف: application/pdf; text
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6986764441617a144e724063e762ecfTest
https://research.manchester.ac.uk/en/publications/2e088aaa-ff70-4a90-af9a-d3d781a5a2adTest -
2دورية أكاديمية
المؤلفون: B.D. Solomon, F. Lacbawan, S. Mercier, N.J. Clegg, M.R. Delgado, K. Rosenbaum, C. Dubourg, V. David, A.H. Olney, L.E. Wehner, U. Hehr, S. Bale, A. Paulussen, H.J. Smeets, E. Hardisty, A. Tylki-Szymanska, E. Pronicka, M. Clemens, E. McPherson, R.C.M. Hennekam, J. Hahn, E. Stashinko, E. Levey, D Wieczorek, E Roeder, C.C. Schell-Apacik, C.W. Booth, R.L. Thomas, S. Kenwrick, D.A.T. Cummings, S.M. Bous, A. Keaton, J.Z. Balog, D. Hadley, N. Zhou, R. Long, J.I. Vélez, D.E. Pineda-Alvarez, S. Odent, E. Roessler, M. Muenke
المصدر: Journal of Medical Genetics (00222593) vol.47 (2010) nr.8 p.513-524
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المؤلفون: M. Smith, Janet Eyre, D. Donnai, S. Kenwrick, S Miller, F. Villagra, C. B. Dobson, Gavin J. Clowry
المصدر: Scopus-Elsevier
مصطلحات موضوعية: Adult, Male, Reflex, Stretch, Decussation, Heterozygote, X Chromosome, Adolescent, Genetic Linkage, Pyramidal Tracts, Gene mutation, Biceps, Magnetics, GAP-43 Protein, Spastic diplegia, medicine, Humans, Spasticity, Child, Muscle, Skeletal, Neural Cell Adhesion Molecules, Membrane Glycoproteins, Pyramidal tracts, Infant, Newborn, Motor Cortex, Infant, Anatomy, Middle Aged, medicine.disease, Spinal cord, Axons, Electric Stimulation, medicine.anatomical_structure, Motor Skills, Child, Preschool, Mutation, Corticospinal tract, Female, Neurology (clinical), medicine.symptom, Psychology, Leukocyte L1 Antigen Complex
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3324e87224c7e9867c7690963c8a0f21Test
https://doi.org/10.1093/brain/124.12.2393Test -
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المؤلفون: S Kenwrick, E J Mayer, K L Greenhalgh, J E Sansom, G N Shuttleworth, R H B Grey
المصدر: British Journal of Ophthalmology. 87:554-556
مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Genetic mosaic, Visual Acuity, GENETIC ABNORMALITY, medicine.disease_cause, Retina, Cornea, Cellular and Molecular Neuroscience, medicine, Humans, Incontinentia Pigmenti, Fluorescein Angiography, Child, Pigmentation disorder, Mutation, business.industry, Genetic disorder, Infant, Incontinentia pigmenti, Gene deletion, medicine.disease, Sensory Systems, Vitreous Hemorrhage, Ophthalmology, Etiology, sense organs, business, Gene Deletion, Scientific Correspondence
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::42f2c10369cc163fb32aeec521877d9eTest
https://doi.org/10.1136/bjo.87.5.554Test -
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المؤلفون: Lisa Strain, S Kenwrick, M Jouet, David T. Bonthron
المصدر: Journal of Medical Genetics. 33:248-250
مصطلحات موضوعية: Genetic Markers, Male, congenital, hereditary, and neonatal diseases and abnormalities, X Chromosome, Molecular Sequence Data, Germline mosaicism, Biology, medicine.disease_cause, Protein Structure, Secondary, Genetics, medicine, Humans, Point Mutation, Allele, Neural Cell Adhesion Molecules, Genetics (clinical), X chromosome, X-linked recessive inheritance, Mutation, Membrane Glycoproteins, Base Sequence, Genetic heterogeneity, Point mutation, Chromosome Mapping, Exons, Pedigree, nervous system diseases, Xq28, Female, Leukocyte L1 Antigen Complex, Research Article, Hydrocephalus
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::751b2583493050094a6dbafacf7e1ccfTest
https://doi.org/10.1136/jmg.33.3.248Test -
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المؤلفون: S, Mansour, H, Woffendin, S, Mitton, I, Jeffery, T, Jakins, S, Kenwrick, V A, Murday
المصدر: American journal of medical genetics. 99(2)
مصطلحات موضوعية: Hypohidrosis, Male, X Chromosome, Infant, Newborn, Protein Serine-Threonine Kinases, Infections, Hematologic Diseases, I-kappa B Kinase, Intestinal Absorption, Ectodermal Dysplasia, Recurrence, Mutation, Codon, Terminator, Humans, Female, Incontinentia Pigmenti, Lymphedema, Survivors
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::5d894977d6713543caa087632fb6badcTest
https://pubmed.ncbi.nlm.nih.gov/11241484Test -
7
المؤلفون: S, Aradhya, P, Ahobila, R A, Lewis, D L, Nelson, T, Esposito, A, Ciccodicola, T, Bardaro, M, D'Urso, H, Woffendin, S, Kenwrick, A, Smahi, S, Heuertz, A, Munnich, N S, Heiss, A, Poustka, A H, Chishti
المصدر: American journal of medical genetics. 94(1)
مصطلحات موضوعية: Male, X Chromosome, Filamins, DNA Mutational Analysis, Microfilament Proteins, Chromosome Mapping, Membrane Proteins, Nerve Tissue Proteins, Blood Proteins, Cytoskeletal Proteins, Contractile Proteins, Humans, Female, Incontinentia Pigmenti, Carrier Proteins, Cell Adhesion Molecules, Molecular Chaperones
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::62d60ba8d0a34da9439f56bd04b3baffTest
https://pubmed.ncbi.nlm.nih.gov/10982489Test -
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المؤلفون: S, Aradhya, D L, Nelson, N S, Heiss, A, Poustka, H, Woffendin, S, Kenwrick, T, Esposito, A, Ciccodicola, T, Bardaro, M, D'Urso, A, Smahi, A, Munnich, G E, Herman, R A, Lewis
المصدر: American journal of medical genetics. 91(3)
مصطلحات موضوعية: Male, Mice, 3-Hydroxysteroid Dehydrogenases, X Chromosome, Mutation, Animals, Humans, Female, Heteroduplex Analysis, Incontinentia Pigmenti, Polymerase Chain Reaction, Polymorphism, Single-Stranded Conformational
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::c01b7a189f018b446c31a2471f97ad6dTest
https://pubmed.ncbi.nlm.nih.gov/10756353Test -
9
المؤلفون: J S, Du, L, Bason, H, Woffendin, E, Zackai, S, Kenwrick
المصدر: American journal of medical genetics. 75(2)
مصطلحات موضوعية: Male, Membrane Glycoproteins, X Chromosome, Genetic Linkage, Mosaicism, Mutagenesis, Cell Adhesion Molecules, Neuronal, Humans, Leukocyte L1 Antigen Complex, Hydrocephalus, Pedigree
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::65015125452db97f0c99a971e75015d9Test
https://pubmed.ncbi.nlm.nih.gov/9450886Test -
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المؤلفون: Cyrus Chothia, S. Kenwrick, J. S. Du, M. Jouet, J. MacFarlane, Alex Bateman
مصطلحات موضوعية: Models, Molecular, Protein Folding, X Chromosome, Protein Conformation, Cell Adhesion Molecules, Neuronal, Molecular Sequence Data, Muscle Proteins, Sequence alignment, medicine.disease_cause, General Biochemistry, Genetics and Molecular Biology, Protein Structure, Secondary, Protein structure, medicine, Drosophila Proteins, Humans, Amino Acid Sequence, Molecular Biology, Peptide sequence, Myosin-Light-Chain Kinase, Neural Cell Adhesion Molecules, Genetics, Mutation, General Immunology and Microbiology, biology, General Neuroscience, Peptide Fragments, Fibronectins, Fibronectin, biology.protein, Immunoglobulin superfamily, Neural cell adhesion molecule, Protein folding, Peptides, Leukocyte L1 Antigen Complex, Sequence Alignment, Research Article, Hydrocephalus
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::057f6c0659a2a41f0f7b7b773e5b3bf4Test
https://europepmc.org/articles/PMC452426Test/