نتائج البحث

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Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data

المؤلفون: Stuart Aitken, Helen V. Firth, Jeremy McRae, Mihail Halachev, Usha Kini, Michael J. Parker, Melissa M. Lees, Katherine Lachlan, Ajoy Sarkar, Shelagh Joss, Miranda Splitt, Shane McKee, Andrea H. Németh, Richard H. Scott, Caroline F. Wright, Joseph A. Marsh, Matthew E. Hurles, David R. FitzPatrick, T.W. Fitzgerald, S.S. Gerety, W.D. Jones, M. van Kogelenberg, D.A. King, J. McRae, K.I. Morley, V. Parthiban, S. Al-Turki, K. Ambridge, D.M. Barrett, T. Bayzetinova, S. Clayton, E.L. Coomber, S. Gribble, P. Jones, N. Krishnappa, L.E. Mason, A. Middleton, R. Miller, E. Prigmore, D. Rajan, A. Sifrim, A.R. Tivey, M. Ahmed, N. Akawi, R. Andrews, U. Anjum, H. Archer, R. Armstrong, M. Balasubramanian, R. Banerjee, D. Barelle, P. Batstone, D. Baty, C. Bennett, J. Berg, B. Bernhard, A.P. Bevan, E. Blair, M. Blyth, D. Bohanna, L. Bourdon, D. Bourn, A. Brady, E. Bragin, C. Brewer, L. Brueton, K. Brunstrom, S.J. Bumpstead, D.J. Bunyan, J. Burn, J. Burton, N. Canham, B. Castle, K. Chandler, S. Clasper, J. Clayton-Smith, T. Cole, A. Collins, M.N. Collinson, F. Connell, N. Cooper, H. Cox, L. Cresswell, G. Cross, Y. Crow, P.M. D’Alessandro, T. Dabir, R. Davidson, S. Davies, J. Dean, C. Deshpande, G. Devlin, A. Dixit, A. Dominiczak, C. Donnelly, D. Donnelly, A. Douglas, A. Duncan, J. Eason, S. Edkins, S. Ellard, P. Ellis, F. Elmslie, K. Evans, S. Everest, T. Fendick, R. Fisher, F. Flinter, N. Foulds, A. Fryer, B. Fu, C. Gardiner, L. Gaunt, N. Ghali, R. Gibbons, S.L. Gomes Pereira, J. Goodship, D. Goudie, E. Gray, P. Greene, L. Greenhalgh, L. Harrison, R. Hawkins, S. Hellens, A. Henderson, E. Hobson, S. Holden, S. Holder, G. Hollingsworth, T. Homfray, M. Humphreys, J. Hurst, S. Ingram, M. Irving, J. Jarvis, L. Jenkins, D. Johnson, D. Jones, E. Jones, D. Josifova, S. Joss, B. Kaemba, S. Kazembe, B. Kerr, U. Kini, E. Kinning, G. Kirby, C. Kirk, E. Kivuva, A. Kraus, D. Kumar, K. Lachlan, W. Lam, A. Lampe, C. Langman, M. Lees, D. Lim, G. Lowther, S.A. Lynch, A. Magee, E. Maher, S. Mansour, K. Marks, K. Martin, U. Maye, E. McCann, V. McConnell, M. McEntagart, R. McGowan, K. McKay, S. McKee, D.J. McMullan, S. McNerlan, S. Mehta, K. Metcalfe, E. Miles, S. Mohammed, T. Montgomery, D. Moore, S. Morgan, A. Morris, J. Morton, H. Mugalaasi, V. Murday, L. Nevitt, R. Newbury-Ecob, A. Norman, R. O’Shea, C. Ogilvie, S. Park, M.J. Parker, C. Patel, J. Paterson, S. Payne, J. Phipps, D.T. Pilz, D. Porteous, N. Pratt, K. Prescott, S. Price, A. Pridham, A. Proctor, H. Purnell, N. Ragge, J. Rankin, L. Raymond, D. Rice, L. Robert, E. Roberts, G. Roberts, J. Roberts, P. Roberts, A. Ross, E. Rosser, A. Saggar, S. Samant, R. Sandford, A. Sarkar, S. Schweiger, C. Scott, R. Scott, A. Selby, A. Seller, C. Sequeira, N. Shannon, S. Sharif, C. Shaw-Smith, E. Shearing, D. Shears, I. Simonic, D. Simpkin, R. Singzon, Z. Skitt, A. Smith, B. Smith, K. Smith, S. Smithson, L. Sneddon, M. Splitt, M. Squires, F. Stewart, H. Stewart, M. Suri, V. Sutton, G.J. Swaminathan, E. Sweeney, K. Tatton-Brown, C. Taylor, R. Taylor, M. Tein, I.K. Temple, J. Thomson, J. Tolmie, A. Torokwa, B. Treacy, C. Turner, P. Turnpenny, C. Tysoe, A. Vandersteen, P. Vasudevan, J. Vogt, E. Wakeling, D. Walker, J. Waters, A. Weber, D. Wellesley, M. Whiteford, S. Widaa, S. Wilcox, D. Williams, N. Williams, G. Woods, C. Wragg, M. Wright, F. Yang, M. Yau, N.P. Carter, M. Parker, H.V. Firth, D.R. FitzPatrick, C.F. Wright, J.C. Barrett, M.E. Hurles

المصدر: American Journal of Human Genetics
Aitken, J, Firth, H V, McRae, J, Halachev, M, Kini, U, Parker, M J, Lees, M M, Lachlan, K, Sarkar, A, Joss, S, Splitt, M, McKee, S, Németh, A H, Scott, R H, Wright, C F, Marsh, J, Hurles, M E, FitzPatrick, D 2019, ' Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data ', American Journal of Human Genetics . https://doi.org/10.1016/j.ajhg.2019.09.015Test

وصف الملف: application/pdf; application/vnd.openxmlformats-officedocument.wordprocessingml.document

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8438162f307fa6cb5836ae7a28494148Test
https://doi.org/10.1016/j.ajhg.2019.09.015Test

2

دورية أكاديمية

Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations

المؤلفون: P. Fergelot, M. Van Belzen, J. Van Gils, A. Afenjar, C. M. Armour, B. Arveiler, L. Beets, L. Burglen, T. Busa, M. Collet, J. Deforges, B. B. . A. de Vries, E. Dominguez Garrido, N. Dorison, J. Dupont, C. Francannet, S. Garciá Minaúr, E. Gabau Vila, S. Gebre Medhin, B. Gener Querol, D. Geneviève, M. Gérard, A. Goldenberg, D. Josifova, K. Lachlan, S. Maas, B. Maranda, J. L. Moilanen, A. Nordgren, P. Parent, J. Rankin, W. Reardon, M. Rio, J. Roume, A. Shaw, R. Smigiel, A. Sojo, B. Solomon, A. Stembalska, C. Stumpel, F. Suarez, P. Terhal, S. Thomas, R. Touraine, A. Verloes, C. Vincent Delorme, J. Wincent, D. J. M. Peters, O. Bartsch, L. Larizza, D. Lacombe, R. C. Hennekam, C. Gervasini

المساهمون: P. Fergelot, M. Van Belzen, J. Van Gil, A. Afenjar, C.M. Armour, B. Arveiler, L. Beet, L. Burglen, T. Busa, M. Collet, J. Deforge, B.B.A. de Vrie, E. Dominguez Garrido, N. Dorison, J. Dupont, C. Francannet, S. Garciá-Minaúr, E. Gabau Vila, S. Gebre-Medhin, B. Gener Querol, D. Geneviève, M. Gérard, C. Gervasini, A. Goldenberg, D. Josifova, K. Lachlan, S. Maa, B. Maranda, J.L. Moilanen, A. Nordgren, P. Parent, J. Rankin, W. Reardon, M. Rio, J. Roume, A. Shaw, R. Smigiel, A. Sojo, B. Solomon, A. Stembalska, C. Stumpel, F. Suarez, P. Terhal, S. Thoma, R. Touraine, A. Verloe, C. Vincent-Delorme, J. Wincent, D.J.M. Peter, O. Bartsch, L. Larizza, D. Lacombe, R.C. Hennekam

مصطلحات موضوعية: EP300, genotype, phenotype, pre-eclampsia, Rubinstein-Taybi syndrome, genetic, genetics (clinical), Settore MED/03 - Genetica Medica

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/27648933; info:eu-repo/semantics/altIdentifier/wos/WOS:000388199100004; numberofpages:14; journal:AMERICAN JOURNAL OF MEDICAL GENETICS. PART A; http://hdl.handle.net/2434/449068Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84988447945

الإتاحة: https://doi.org/10.1002/ajmg.a.37940Test
http://hdl.handle.net/2434/449068Test

View record in BASE

3

MLL2 mosaic mutations and intragenic deletion-duplications in patients with Kabuki syndrome

المؤلفون: S, Banka, E, Howard, S, Bunstone, K E, Chandler, B, Kerr, K, Lachlan, S, McKee, S G, Mehta, A L T, Tavares, J, Tolmie, D, Donnai

المصدر: Clinical genetics. 83(5)

مصطلحات موضوعية: Male, Base Sequence, Genotype, Mosaicism, Facies, Hematologic Diseases, Neoplasm Proteins, DNA-Binding Proteins, Phenotype, Vestibular Diseases, Child, Preschool, Face, Gene Duplication, Mutation, Humans, Abnormalities, Multiple, Female, Child, Gene Deletion

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::29125bee5c12826af01fb42fe2b8251cTest
https://pubmed.ncbi.nlm.nih.gov/22901312Test

4

A study of a family with the skeletal muscle RYR1 mutation (c.7354CT) associated with central core myopathy and malignant hyperthermia susceptibility

المؤلفون: A. Taylor, K. Lachlan, Ruth M. Manners, Andrew J. Lotery

المصدر: Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia. 19(1)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b918fbcbc23c7ea125ca36524b9d922aTest
https://pubmed.ncbi.nlm.nih.gov/22030266Test

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Further delineation of the 15q13 microdeletion and duplication syndromes

المؤلفون: Geert Vandeweyer, Willy M. Nillesen, Sven Parkel, P Finnemore, John C. K. Barber, F Kooy, Bart Loeys, K Lachlan, John A. Crolla, Carl Baker, Nicola Foulds, N. Van der Aa, Viv K. Maloney, Luis A. Pérez-Jurado, B. B. A. De Vries, Tjitske Kleefstra, R. Pfundt, T.J.L. de Ravel, Ernie M.H.F. Bongers, Jeffrey W. Innis, Samantha J. L. Knight, L E Connell, Joris Vermeesch, Ants Kurg, Franki Speleman, S Huang, M van Kalmthout, Heather C Mefford, Marcelo A. Nobrega, Han G. Brunner, Christopher Geoffrey Woods, N. de Leeuw, B W M van Bon, Marco Fichera, Catherine Mercer, Clara Serra-Juhé, Sandra Janssens, C M A van Ravenswaaij, Ingrid Simonic, Björn Menten, Geert Mortier, Maurizio Elia, Alexandre C. Pereira, Lionel Willatt, J. P. Fryns, B Castle, Andrew J. Sharp, Katrin Õunap, A Oostra, Santina Reitano, Corrado Romano, David A. Koolen, H. Stewart, K Smith, Evan E. Eichler

المساهمون: Clinical sciences, Medical Genetics, Erasmushogeschool Brussel, Chemical Engineering and Industrial Chemistry, Faculty of Engineering, Vrije Universiteit Brussel, Faculty of Psychology and Educational Sciences, Faculty of Law and Criminology

المصدر: JOURNAL OF MEDICAL GENETICS, 46(8), 511-523. BMJ PUBLISHING GROUP
JOURNAL OF MEDICAL GENETICS
Journal of medical genetics
Journal of Medical Genetics, 46, 8, pp. 511-23
Journal of Medical Genetics, 46, 511-23

مصطلحات موضوعية: Proband, Male, LINKAGE DISEQUILIBRIUM, Genetics and epigenetic pathways of disease [NCMLS 6], Chromosome Disorders, Disease, Bioinformatics, CHROMOSOME 22Q11, Epilepsy, PRADER-WILLI, Chromosome Disorders/genetics, Gene Duplication, Gene duplication, HUMAN GENOME, Copy-number variation, MOLECULAR CHARACTERIZATION, Child, Genetics (clinical), Segmental duplication, Oligonucleotide Array Sequence Analysis, Genetics, Chromosomes, Human, Pair 15/genetics, ABSENT-RADIUS SYNDROME, Microdeletion syndrome, syndrome, Pedigree, Female, pregnancy, Chromosome Deletion, Functional Neurogenomics [DCN 2], Adult, Adolescent, Child, preschool, SEGMENTAL DUPLICATIONS, COPY-NUMBER VARIATION, Biology, Article, Genomic disorders and inherited multi-system disorders [IGMD 3], Intellectual Disability, medicine, Humans, Clinical significance, Chromosome Aberrations, Chromosomes, Human, Pair 15, Infant, Newborn, Infant, medicine.disease, Intellectual Disability/genetics, Human medicine, ARRAY-CGH, MENTAL-RETARDATION