المؤلفون: McRae, JF, Clayton, S, Fitzgerald, TW, Kaplanis, J, Prigmore, E, Rajan, D, Sifrim, A, Aitken, S, Akawi, N, Alvi, M, Ambridge, K, Barrett, DM, Bayzetinova, T, Jones, P, Jones, WD, King, D, Krishnappa, N, Mason, LE, Singh, T, Tivey, AR, Ahmed, M, Anjum, U, Archer, H, Armstrong, R, Awada, J, Balasubramanian, M, Banka, S, Baralle, D, Barnicoat, A, Batstone, P, Baty, D, Bennett, C, Berg, J, Bernhard, B, Bevan, AP, Bitner-Glindzicz, M, Blair, E, Blyth, M, Bohanna, D, Bourdon, L, Bourn, D, Bradley, L, Brady, A, Brent, S, Brewer, C, Brunstrom, K, Bunyan, DJ, Burn, J, Canham, N, Castle, B, Chandler, K, Chatzimichali, E, Cilliers, D, Clarke, A, Clasper, S, Clayton-Smith, J, Clowes, V, Coates, A, Cole, T, Colgiu, I, Collins, A, Collinson, MN, Connell, F, Cooper, N, Cox, H, Cresswell, L, Cross, G, Crow, Y, D’Alessandro, M, Dabir, T, Davidson, R, Davies, S, de Vries, D, Dean, J, Deshpande, C, Devlin, G, Dixit, A, Dobbie, A, Donaldson, A, Donnai, D, Donnelly, D, Donnelly, C, Douglas, A, Douzgou, S, Duncan, A, Eason, J, Ellard, S, Ellis, I, Elmslie, F, Evans, K, Everest, S, Fendick, T, Fisher, R, Flinter, F, Foulds, N, Fry, A, Fryer, A, Gardiner, C, Gaunt, L, Ghali, N, Gibbons, R, Gill, H, Goodship, J, Goudie, D, Gray, E, Green, A, Greene, P, Greenhalgh, L, Gribble, S, Harrison, R, Harrison, L, Harrison, V, Hawkins, R, He, L, Hellens, S, Henderson, A, Hewitt, S, Hildyard, L, Hobson, E, Holden, S, Holder, M, Holder, S, Hollingsworth, G, Homfray, T, Humphreys, M, Hurst, J, Hutton, B, Ingram, S, Irving, M, Islam, L, Jackson, A, Jarvis, J, Jenkins, L, Johnson, D, Jones, E, Josifova, D, Joss, S, Kaemba, B, Kazembe, S, Kelsell, R, Kerr, B, Kingston, H, Kini, U, Kinning, E, Kirby, G, Kirk, C, Kivuva, E, Kraus, A, Kumar, D, Kumar, VKA, Lachlan, K, Lam, W, Lampe, A, Langman, C, Lees, M, Lim, D, Longman, C, Lowther, G, Lynch, SA, Magee, A, Maher, E, Male, A, Mansour, S, Marks, K, Martin, K, Maye, U, McCann, E, McConnell, V, McEntagart, M, McGowan, R, McKay, K, McKee, S, McMullan, DJ, McNerlan, S, McWilliam, C, Mehta, S, Metcalfe, K, Middleton, A, Miedzybrodzka, Z, Miles, E, Mohammed, S, Montgomery, T, Moore, D, Morgan, S, Morton, J, Mugalaasi, H, Murday, V, Murphy, H, Naik, S, Nemeth, A, Nevitt, L, Newbury-Ecob, R, Norman, A, O’Shea, R, Ogilvie, C, Ong, K-R, Park, S-M, Parker, MJ, Patel, C, Paterson, J, Payne, S, Perrett, D, Phipps, J, Pilz, DT, Pollard, M, Pottinger, C, Poulton, J, Pratt, N, Prescott, K, Price, S, Pridham, A, Procter, A, Purnell, H, Quarrell, O, Ragge, N, Rahbari, R, Randall, J, Rankin, J, Raymond, L, Rice, D, Robert, L, Roberts, E, Roberts, J, Roberts, P, Roberts, G, Ross, A, Rosser, E, Saggar, A, Samant, S, Sampson, J, Sandford, R, Sarkar, A, Schweiger, S, Scott, R, Scurr, I, Selby, A, Seller, A, Sequeira, C, Shannon, N, Sharif, S, Shaw-Smith, C, Shearing, E, Shears, D, Sheridan, E, Simonic, I, Singzon, R, Skitt, Z, Smith, A, Smith, K, Smithson, S, Sneddon, L, Splitt, M, Squires, M, Stewart, F, Stewart, H, Straub, V, Suri, M, Sutton, V, Swaminathan, GJ, Sweeney, E, Tatton-Brown, K, Taylor, C, Taylor, R, Tein, M, Temple, IK, Thomson, J, Tischkowitz, M, Tomkins, S, Torokwa, A, Treacy, B, Turner, C, Turnpenny, P, Tysoe, C, Vandersteen, A, Varghese, V, Vasudevan, P, Vijayarangakannan, P, Vogt, J, Wakeling, E, Wallwark, S, Waters, J, Weber, A, Wellesley, D, Whiteford, M, Widaa, S, Wilcox, S, Wilkinson, E, Williams, D, Williams, N, Wilson, L, Woods, G, Wragg, C, Wright, M, Yates, L, Yau, M, Nellåker, C, Parker, M, Firth, HV, Wright, CF, FitzPatrick, DR, Barrett, JC, Hurles, ME

المصدر: 2017, ' Prevalence and architecture of de novo mutations in developmental disorders ', Nature, vol. 542, no. 7642, pp. 433-438 . https://doi.org/10.1038/nature21062Test
Deciphering Developmental Disorders Study & Crow, Y 2017, ' Prevalence and architecture of de novo mutations in developmental disorders ', Nature, vol. 542, no. 7642, pp. 433-438 . https://doi.org/10.1038/nature21062Test
Nature

مصطلحات موضوعية: Male, Parents, Heredity, Developmental Disabilities, GRIN2B, POGZ, Autoantigens, SMAD4, CASK, GATAD2B, 0302 clinical medicine, TRIO, SMARCA2, KCNH1, Average Faces, CTNNB1, SCN1A, Young adult, Casein Kinase II, Child, AUTS2, MEF2C, Exome, ADNP, Exome sequencing, EP300, KCNQ2, KCNQ3, EHMT1, CNKSR2, CREBBP, MYT1L, MED13L, CSNK2A1, Protein Phosphatase 2C, PPP2R1A, ZBTB18, CDKL5, WAC, HNRNPU, Cohort, STXBP1, Medical genetics, SYNGAP1, Mi-2 Nucleosome Remodeling and Deacetylase Complex, Sex characteristics, AHDC1, SCN8A, medicine.medical_specialty, SLC6A1, FOXP1, USP9X, Article, ANKRD11, PUF60, BRAF, 03 medical and health sciences, SATB2, SMC1A, Intellectual Disability, BCL11A, GABRB3, IQSEC2, Humans, TBL1XR1, TCF4, MSL3, TCF20, DNM1, EEF1A2, SUV420H1, DYRK1A, SETD5, COL4A3BP, CTCF, CHD2, R1, CHD4, 030104 developmental biology, NAA10, HDAC8, Mutation, KDM5B, CHAMP1, PhenIcons, 030217 neurology & neurosurgery, Transcription Factors, 0301 basic medicine, ZMYND11, PTEN, De novo mutation, Chromosomal Proteins, Non-Histone, PTPN11, ASXL1, Bioinformatics, medicine.disease_cause, ASXL3, Cohort Studies, DEAD-box RNA Helicases, CHD8, Prevalence, QRICH1, KIF1A, Genetics, Sex Characteristics, GNAI1, Multidisciplinary, WDR45, Middle Aged, KMT2A, PPM1D, MECP2, DNA-Binding Proteins, PPP2R5D, Phenotype, PACS1, ras GTPase-Activating Proteins, DDX3X, Female, FOXG1, SET, Myeloid-Lymphoid Leukemia Protein, Developmental Disease, Adult, KANSL1, Adolescent, NFIX, Nerve Tissue Proteins, PURA, Biology, KAT6B, KAT6A, NSD1, PDHA1, ALG13, Young Adult, Seizures, CDC2 Protein Kinase, medicine, Journal Article, QH426, Homeodomain Proteins, ITPR1, DYNC1H1, GNAO1, Histone-Lysine N-Methyltransferase, Sequence Analysis, DNA, ZC4H2, ARID1B, Repressor Proteins, CNOT3, SCN2A, SLC35A2, CDK13

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

المصدر: Nature

مصطلحات موضوعية: Male, Parents, Chromosomal Proteins, Non-Histone, Developmental Disabilities, Transposases, SYNGAP1, medicine.disease_cause, Bioinformatics, DEAD-box RNA Helicases, 0302 clinical medicine, Guanine Nucleotide Exchange Factors, Missense mutation, Exome, Protein Phosphatase 2, Child, Dynamin I, Zebrafish, Exome sequencing, Genes, Dominant, Polycomb Repressive Complex 1, 0303 health sciences, Mutation, Multidisciplinary, Gene Expression Regulation, Developmental, Nuclear Proteins, DNA-Binding Proteins, Child, Preschool, Female, Adolescent, Mutation, Missense, Nerve Tissue Proteins, Protein Serine-Threonine Kinases, Biology, Article, 03 medical and health sciences, Rare Diseases, medicine, Animals, Humans, 030304 developmental biology, Chromosome Aberrations, Homeodomain Proteins, Genome, Human, Mechanism (biology), Infant, Newborn, Infant, Phosphoproteins, United Kingdom, Human genetics, Repressor Proteins, Human genome, Carrier Proteins, 030217 neurology & neurosurgery, Transcription Factors

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الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4849ed517dde51d5c721a6a7dd24d51cTest

المؤلفون: Weedon, M. N., Cebola, I., Patch, A. M., Flanagan, S., De Franco, E., Caswell, R., Rodríguez Seguí, Santiago Andrés, Shaw Smith, C., Cho, C., Allen, H. L., Houghton, J., Roth, C. L., Chen, R., Hussain, K., Marsh, P., Vallier, L., Murray, A., International Pancreatic Agenesis Consortium, Ellard, S., Ferrer, J., Hattersley, A. T.

المصدر: Nature genetics

مصطلحات موضوعية: Epigenomics, Male, International Pancreatic Agenesis Consortium, medicine.disease_cause, DISEASE, AGENESIS, 0302 clinical medicine, ELEMENTS, HUMAN GENOME, 11 Medical and Health Sciences, Genetics & Heredity, 0303 health sciences, Mutation, 3. Good health, Pedigree, Medicina Básica, medicine.anatomical_structure, DIFFERENTIATION, Enhancer Elements, Genetic, LEADS, Agenesis, Female, Pancreas, Life Sciences & Biomedicine, CIENCIAS MÉDICAS Y DE LA SALUD, GENES, Genética Humana, Genes, Recessive, Biology, Article, ENHANCER, 03 medical and health sciences, Genetics, medicine, Humans, Progenitor cell, Enhancer, Gene, Transcription factor, Embryonic Stem Cells, 030304 developmental biology, PANCREAS, Science & Technology, Chromosomes, Human, Pair 10, DELETION, Pancreatic Diseases, DNA, 06 Biological Sciences, medicine.disease, Molecular biology, PTF1A, CELLS, Human genome, VERTEBRATE, 030217 neurology & neurosurgery, Transcription Factors, Developmental Biology

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6732dc3634efaea601cc641efbd6d195Test
http://hdl.handle.net/10044/1/71050Test

المؤلفون: Allen, H.L., Flanagan, S.E., Shaw-Smith, C., Franco, E. De, Akerman, I., Caswell, R., Ferrer, J., Hattersley, A.T., Ellard, S., Aanstoot, H.J., Aberg, E., Adolfsson, P., Anthony, M., Batlle, M., Bruining, J, Bühr, P., Cummings, E., Edge, J., Garcia-Hurtado, J., Hathout, E., Ho, J., Jeffries, C., Temple, I.K., Kaufman, E., Kotori, V.M., Krijger, R. de, Kummer, M., Mackay, D., Mace, J., Noordam, C., O'Brien, F., Rubio-Cabezas, O., Shield, J., Skidmore, D., White, S., Zanier, U.

المصدر: Nature Genetics, 44, 1, pp. 20-2
Nature Genetics, 44, 20-2

مصطلحات موضوعية: endocrine system, 030209 endocrinology & metabolism, Haploinsufficiency, Biology, Bioinformatics, Article, 03 medical and health sciences, 0302 clinical medicine, GATA6 Transcription Factor, Rare mutations, Genetics, medicine, Humans, Pancreas, Transcription factor, 030304 developmental biology, 0303 health sciences, GATA6, Pancreatic agenesis, Phenotype, 3. Good health, medicine.anatomical_structure, Mitochondrial medicine [IGMD 8], PDX1

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::18f989bd681a94526bb868738e69f57eTest
https://doi.org/10.1038/ng.1035Test

المؤلفون: Inge B. Mathijssen, Claire G. Salter, J M van Hagen, Tara Montgomery, Manuela Priolo, T. E. Neumann, Charles Shaw-Smith, I. H. Acero, Raoul C.M. Hennekam, L. Pintomalli, Fernando Santos-Simarro, Christine Coubes, Maria Iascone, Leonie A. Menke, Nursel Elcioglu, M. Zollino, Ghayda M. Mirzaa, Shane McKee, Rajesh V. Thakker, S. Piening, I. Dapia, C. Mammì, Arveen Kamath, Jair Tenorio, Emilia K. Bijlsma, Pierre Sarda, W. W. Dunn, Denny Schanze, Paul A. Mulder, Pablo Lapunzina, Martin Zenker, A. van Haeringen, Laura Bernardini, Jan Liebelt, N. Di Donato, Dorothee Neubauer, Jill A. Fahrner, Alison Foster, Sally Ann Lynch, Sue Price, A. M. Landlust, Sally J. Davies, N. G. González, I. Huber, Rita Valdez, I. D. C. van Balkom, Maria Antonietta Pisanti, Saskia M. Maas, Sarah F. Smithson, Pedro Arias, Mohnish Suri, Mabel Segovia, Kreepa Kooblall, Katrina Tatton-Brown, Trevor Cole, A. S. Plomp, Ann Sophie Kaiser, Fowzan S. Alkuraya

المساهمون: Pediatric surgery, Human genetics, APH - Quality of Care, Amsterdam Reproduction & Development (AR&D), Mulder, P. A., van Balkom, I. D. C., Landlust, A. M., Priolo, M., Menke, L. A., Acero, I. H., Alkuraya, F. S., Arias, P., Bernardini, L., Bijlsma, E. K., Cole, T., Coubes, C., Dapia, I., Davies, S., Di Donato, N., Elcioglu, N. H., Fahrner, J. A., Foster, A., Gonzalez, N. G., Huber, I., Iascone, M., Kaiser, A. -S., Kamath, A., Kooblall, K., Lapunzina, P., Liebelt, J., Lynch, S. A., Maas, S. M., Mammi, C., Mathijssen, I. B., McKee, S., Mirzaa, G. M., Montgomery, T., Neubauer, D., Neumann, T. E., Pintomalli, L., Pisanti, M. A., Plomp, A. S., Price, S., Salter, C., Santos-Simarro, F., Sarda, P., Schanze, D., Segovia, M., Shaw-Smith, C., Smithson, S., Suri, M., Tatton-Brown, K., Tenorio, J., Thakker, R. V., Valdez, R. M., Van Haeringen, A., Van Hagen, J. M., Zenker, M., Zollino, M., Dunn, W. W., Piening, S., Hennekam, R. C., Graduate School, ANS - Cellular & Molecular Mechanisms, General Paediatrics, ARD - Amsterdam Reproduction and Development, Human Genetics

المصدر: J Intellect Disabil Res
Mulder, P A, van Balkom, I D C, Landlust, A M, Priolo, M, Menke, L A, Acero, I H, Alkuraya, F S, Arias, P, Bernardini, L, Bijlsma, E K, Cole, T, Coubes, C, Dapia, I, Davies, S, di Donato, N, Elcioglu, N H, Fahrner, J A, Foster, A, González, N G, Huber, I, Iascone, M, Kaiser, A S, Kamath, A, Kooblall, K, Lapunzina, P, Liebelt, J, Lynch, S A, Maas, S M, Mammì, C, Mathijssen, I B, McKee, S, Mirzaa, G M, Montgomery, T, Neubauer, D, Neumann, T E, Pintomalli, L, Pisanti, M A, Plomp, A S, Price, S, Salter, C, Santos-Simarro, F, Sarda, P, Schanze, D, Segovia, M, Shaw-Smith, C, Smithson, S, Suri, M, Tatton-Brown, K, Tenorio, J, Thakker, R V, Valdez, R M, van Haeringen, A, van Hagen, J M, Zenker, M, Zollino, M, Dunn, W W, Piening, S & Hennekam, R C 2020, ' Development, behaviour and sensory processing in Marshall–Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes ', Journal of Intellectual Disability Research, vol. 64, no. 12, pp. 956-969 . https://doi.org/10.1111/jir.12787Test
Journal of Intellectual Disability Research, 64(12), 956-969. Wiley-Blackwell
Journal of Intellectual Disability Research, 64(12), 956-969. WILEY
Journal of intellectual disability research, 64(12), 956-969. Wiley-Blackwell

مصطلحات موضوعية: cognition, Male, 030506 rehabilitation, Marshall–Smith syndrome, medicine.medical_treatment, CHILDREN, Comorbidity, Settore MED/03 - GENETICA MEDICA, Craniofacial Abnormalities, Quality of life, Septo-Optic Dysplasia, Intellectual disability, Adaptation, Psychological, sensory processing, Child, Netherlands, biology, Mental Disorders, 05 social sciences, Rehabilitation, Cognition, SOTOS-LIKE, Syndrome, NFIX, Psychiatry and Mental health, Phenotype, Neurology, adaptive behaviour, Child, Preschool, NFIX variants, Female, 0305 other medical science, Psychology, 050104 developmental & child psychology, Clinical psychology, Adult, Sensory processing, Adolescent, Challenging behaviour, NFIXvariants, Context (language use), AUTISTIC DISORDER, Speech Disorders, Article, 03 medical and health sciences, Young Adult, Arts and Humanities (miscellaneous), Intellectual Disability, medicine, Humans, 0501 psychology and cognitive sciences, Abnormalities, Multiple, Malan syndrome, Bone Diseases, Developmental, ADULTS, medicine.disease, Marshall-Smith syndrome, Cross-Sectional Studies, biology.protein, PATTERNS, Neurology (clinical), Follow-Up Studies

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https://pubmed.ncbi.nlm.nih.gov/33034087Test