المؤلفون: Menke L. A., van Belzen M. J., Alders M., Cristofoli F., Ehmke N., Fergelot P., Foster A., Gerkes E. H., Hoffer M. J. V., Horn D., Kant S. G., Lacombe D., Leon E., Maas S. M., Melis D., Muto V., Park S., Peeters H., Peters D. J. M., Pfundt R., van Ravenswaaij-Arts C. M. A., Tartaglia M., Hennekam R. C. M.

المساهمون: Menke, L. A., van Belzen, M. J., Alders, M., Cristofoli, F., Ehmke, N., Fergelot, P., Foster, A., Gerkes, E. H., Hoffer, M. J. V., Horn, D., Kant, S. G., Lacombe, D., Leon, E., Maas, S. M., Melis, D., Muto, V., Park, S., Peeters, H., Peters, D. J. M., Pfundt, R., van Ravenswaaij-Arts, C. M. A., Tartaglia, M., Hennekam, R. C. M.

مصطلحات موضوعية: case serie, clinical feature, CREBBP, exon 30, exon 31, genotype–phenotype correlation, intellectual disability, mutation, RSTS, Rubinstein–Taybi syndrome, syndrome, whole exome sequencing, Adolescent, Adult, Allele, Amino Acid Sequence, CREB-Binding Protein, Child, Preschool, Exome, Exon, Facie, Female, Genotype, High-Throughput Nucleotide Sequencing, Human, Infant, Male, Missense, Rubinstein-Taybi Syndrome

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/27311832; info:eu-repo/semantics/altIdentifier/wos/WOS:000383612200026; volume:170; issue:10; firstpage:2681; lastpage:2693; numberofpages:13; journal:AMERICAN JOURNAL OF MEDICAL GENETICS. PART A; http://hdl.handle.net/11386/4760491Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84977583323

الإتاحة: https://doi.org/10.1002/ajmg.a.37800Test
http://hdl.handle.net/11386/4760491Test

المؤلفون: Menke, L.A., Belzen, M.J. van, Alders, M., Cristofoli, F., Ehmke, N., Fergelot, P., Foster, A., Gerkes, E.H., Hoffer, M.J.V., Horn, D., Kant, S.G., Lacombe, D., Leon, E., Maas, S.M., Melis, D., Muto, V., Park, S.M., Peeters, H., Peters, D.J.M., Pfundt, R., Ravenswaaij-Arts, C.M.A. van, Tartaglia, M., Hennekam, R.C.M., DDD Study

المساهمون: Clinical Cognitive Neuropsychiatry Research Program (CCNP), ANS - Complex Trait Genetics, Paediatric Genetics, ACS - Amsterdam Cardiovascular Sciences, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Other Research, Human Genetics, APH - Amsterdam Public Health

المصدر: American Journal of Medical Genetics. Part A, 170(10), 2681-2693. Wiley
American Journal of Medical Genetics. Part A, 170, 2681-93
American journal of medical genetics. Part A, 170A(10), 2681-2693. Wiley-Liss Inc.
American Journal of Medical Genetics. Part A, 170, 10, pp. 2681-93
American Journal of Medical Genetics Part A, 170(10), 2681-2693

مصطلحات موضوعية: 0301 basic medicine, Male, Microcephaly, clinical features, medicine.disease_cause, Bioinformatics, DISEASE, whole exome sequencing, Exon, DOMAIN, Missense mutation, Exome, Child, Genetics (clinical), Exome sequencing, Genetics, Mutation, MISSENSE, case series, High-Throughput Nucleotide Sequencing, genotype–phenotype correlation, Exons, CREBBP, syndrome, CREB-Binding Protein, Phenotype, intellectual disability, Child, Preschool, exon 30, exon 31, mutation, RSTS, Rubinstein–Taybi syndrome, Adolescent, Adult, Alleles, Amino Acid Sequence, Facies, Female, Genotype, Humans, Infant, Mutation, Missense, Rubinstein-Taybi Syndrome, Young Adult, Genetic Association Studies, medicine.symptom, genotype-phenotype correlation, CBP, ZZ, Short stature, 03 medical and health sciences, medicine, otorhinolaryngologic diseases, Preschool, Rubinstein-Taybi syndrome, SPECTRUM, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], business.industry, medicine.disease, 030104 developmental biology, business

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::69ac671804b167f7c758f7408aa860c6Test
https://research.rug.nl/en/publications/7efb5ad6-e0d2-497a-b453-f3c9956610feTest

المؤلفون: Van Balkom I.D.C., Alders M., Allanson J., Bellini C., Frank U., De Jong G., Kolbe I., Lacombe D., Rockson S., Rowe P., Wijburg F., Hennekam R.C.M.

مصطلحات موضوعية: autosomal recessive inheritance, clinical article, congenital blood vessel malformation, congenital heart disease, convulsion, erysipelas, face malformation, female, glaucoma, hearing loss, hennekam syndrome, human, human tissue, infant, kidney malformation, lymphangiectasis, lymphedema, male, mental deficiency, pathogenesis, preschool child, priority journal, psychomotor development, review, syndrome, tooth malformation, Abnormalities, Multiple, Child, Preschool

العلاقة: American Journal of Medical Genetics; 112; http://hdl.handle.net/10019.1/13298Test

الإتاحة: https://doi.org/10.1002/ajmg.10707Test
http://hdl.handle.net/10019.1/13298Test

المؤلفون: Michael A. Levy, Raissa Relator, Haley McConkey, Erinija Pranckeviciene, Jennifer Kerkhof, Mouna Barat‐Houari, Sara Bargiacchi, Elisa Biamino, María Palomares Bralo, Gerarda Cappuccio, Andrea Ciolfi, Angus Clarke, Barbara R. DuPont, Mariet W. Elting, Laurence Faivre, Timothy Fee, Marco Ferilli, Robin S. Fletcher, Florian Cherick, Aidin Foroutan, Michael J. Friez, Cristina Gervasini, Sadegheh Haghshenas, Benjamin A. Hilton, Zandra Jenkins, Simranpreet Kaur, Suzanne Lewis, Raymond J. Louie, Silvia Maitz, Donatella Milani, Angela T. Morgan, Renske Oegema, Elsebet Østergaard, Nathalie R. Pallares, Maria Piccione, Astrid S. Plomp, Cathryn Poulton, Jack Reilly, Rocio Rius, Stephen Robertson, Kathleen Rooney, Justine Rousseau, Gijs W. E. Santen, Fernando Santos‐Simarro, Josephine Schijns, Gabriella M. Squeo, Miya St John, Christel Thauvin‐Robinet, Giovanna Traficante, Pleuntje J. van der Sluijs, Samantha A. Vergano, Niels Vos, Kellie K. Walden, Dimitar Azmanov, Tugce B. Balci, Siddharth Banka, Jozef Gecz, Peter Henneman, Jennifer A. Lee, Marcel M. A. M. Mannens, Tony Roscioli, Victoria Siu, David J. Amor, Gareth Baynam, Eric G. Bend, Kym Boycott, Nicola Brunetti‐Pierri, Philippe M. Campeau, Dominique Campion, John Christodoulou, David Dyment, Natacha Esber, Jill A. Fahrner, Mark D. Fleming, David Genevieve, Delphine Heron, Thomas Husson, Kristin D. Kernohan, Alisdair McNeill, Leonie A. Menke, Giuseppe Merla, Paolo Prontera, Cheryl Rockman‐Greenberg, Charles Schwartz, Steven A. Skinner, Roger E. Stevenson, Marie Vincent, Antonio Vitobello, Marco Tartaglia, Marielle Alders, Matthew L. Tedder, Bekim Sadikovic

المساهمون: Human genetics, Amsterdam Reproduction & Development (AR&D), Pediatrics, Levy M.A., Relator R., McConkey H., Pranckeviciene E., Kerkhof J., Barat-Houari M., Bargiacchi S., Biamino E., Palomares Bralo M., Cappuccio G., Ciolfi A., Clarke A., DuPont B.R., Elting M.W., Faivre L., Fee T., Ferilli M., Fletcher R.S., Cherick F., Foroutan A., Friez M.J., Gervasini C., Haghshenas S., Hilton B.A., Jenkins Z., Kaur S., Lewis S., Louie R.J., Maitz S., Milani D., Morgan A.T., Oegema R., Ostergaard E., Pallares N.R., Piccione M., Plomp A.S., Poulton C., Reilly J., Rius R., Robertson S., Rooney K., Rousseau J., Santen G.W.E., Santos-Simarro F., Schijns J., Squeo G.M., John M.S., Thauvin-Robinet C., Traficante G., van der Sluijs P.J., Vergano S.A., Vos N., Walden K.K., Azmanov D., Balci T.B., Banka S., Gecz J., Henneman P., Lee J.A., Mannens M.M.A.M., Roscioli T., Siu V., Amor D.J., Baynam G., Bend E.G., Boycott K., Brunetti-Pierri N., Campeau P.M., Campion D., Christodoulou J., Dyment D., Esber N., Fahrner J.A., Fleming M.D., Genevieve D., Heron D., Husson T., Kernohan K.D., McNeill A., Menke L.A., Merla G., Prontera P., Rockman-Greenberg C., Schwartz C., Skinner S.A., Stevenson R.E., Vincent M., Vitobello A., Tartaglia M., Alders M., Tedder M.L., Sadikovic B., Levy, Michael A, Relator, Raissa, Mcconkey, Haley, Pranckeviciene, Erinija, Kerkhof, Jennifer, Barat-Houari, Mouna, Bargiacchi, Sara, Biamino, Elisa, Bralo, María Palomare, Cappuccio, Gerarda, Ciolfi, Andrea, Clarke, Angu, Dupont, Barbara R, Elting, Mariet W, Faivre, Laurence, Fee, Timothy, Ferilli, Marco, Fletcher, Robin S, Cherick, Florian, Foroutan, Aidin, Friez, Michael J, Gervasini, Cristina, Haghshenas, Sadegheh, Hilton, Benjamin A, Jenkins, Zandra, Kaur, Simranpreet, Lewis, Suzanne, Louie, Raymond J, Maitz, Silvia, Milani, Donatella, Morgan, Angela T, Oegema, Renske, Østergaard, Elsebet, Pallares, Nathalie Ruiz, Piccione, Maria, Plomp, Astrid S, Poulton, Cathryn, Reilly, Jack, Rius, Rocio, Robertson, Stephen, Rooney, Kathleen, Rousseau, Justine, Santen, Gijs W E, Santos-Simarro, Fernando, Schijns, Josephine, Squeo, Gabriella Maria, John, Miya St, Thauvin-Robinet, Christel, Traficante, Giovanna, van der Sluijs, Pleuntje J, Vergano, Samantha A, Vos, Niel, Walden, Kellie K, Azmanov, Dimitar, Balci, Tugce B, Banka, Siddharth, Gecz, Jozef, Henneman, Peter, Lee, Jennifer A, Mannens, Marcel M A M, Roscioli, Tony, Siu, Victoria, Amor, David J, Baynam, Gareth, Bend, Eric G, Boycott, Kym, Brunetti-Pierri, Nicola, Campeau, Philippe M, Campion, Dominique, Christodoulou, John, Dyment, David, Esber, Natacha, Fahrner, Jill A, Fleming, Mark D, Genevieve, David, Heron, Delphine, Husson, Thoma, Kernohan, Kristin D, Mcneill, Alisdair, Menke, Leonie A, Merla, Giuseppe, Prontera, Paolo, Rockman-Greenberg, Cheryl, Schwartz, Charle, Skinner, Steven A, Stevenson, Roger E, Vincent, Marie, Vitobello, Antonio, Tartaglia, Marco, Alders, Marielle, Tedder, Matthew L, Sadikovic, Bekim, Human Genetics, General Paediatrics, Graduate School, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, ARD - Amsterdam Reproduction and Development, ANS - Cellular & Molecular Mechanisms, ANS - Complex Trait Genetics, ACS - Pulmonary hypertension & thrombosis

المصدر: Human Mutation, 43(11), 1609-1628. Wiley-Liss Inc.
Human Mutation: Variation, Informatics and Disease, 43(11), 1609-1628. WILEY
Human mutation, 43(11), 1609-1628. Wiley-Liss Inc.
Levy, M A, Relator, R, McConkey, H, Pranckeviciene, E, Kerkhof, J, Barat-Houari, M, Bargiacchi, S, Biamino, E, Palomares Bralo, M, Cappuccio, G, Ciolfi, A, Clarke, A, DuPont, B R, Elting, M W, Faivre, L, Fee, T, Ferilli, M, Fletcher, R S, Cherick, F, Foroutan, A, Friez, M J, Gervasini, C, Haghshenas, S, Hilton, B A, Jenkins, Z, Kaur, S, Lewis, S, Louie, R J, Maitz, S, Milani, D, Morgan, A T, Oegema, R, Østergaard, E, Pallares, N R, Piccione, M, Plomp, A S, Poulton, C, Reilly, J, Rius, R, Robertson, S, Rooney, K, Rousseau, J, Santen, G W E, Santos-Simarro, F, Schijns, J, Squeo, G M, John, M S, Thauvin-Robinet, C, Traficante, G, van der Sluijs, P J, Vergano, S A, Vos, N, Walden, K K, Azmanov, D, Balci, T B, Banka, S, Gecz, J, Henneman, P, Lee, J A, Mannens, M M A M, Roscioli, T, Siu, V, Amor, D J, Baynam, G, Bend, E G, Boycott, K, Brunetti-Pierri, N, Campeau, P M, Campion, D, Christodoulou, J, Dyment, D, Esber, N, Fahrner, J A, Fleming, M D, Genevieve, D, Heron, D, Husson, T, Kernohan, K D, McNeill, A, Menke, L A, Merla, G, Prontera, P, Rockman-Greenberg, C, Schwartz, C, Skinner, S A, Stevenson, R E, Vincent, M, Vitobello, A, Tartaglia, M, Alders, M, Tedder, M L & Sadikovic, B 2022, ' Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders ', Human Mutation, vol. 43, no. 11, pp. 1609-1628 . https://doi.org/10.1002/humu.24446Test

مصطلحات موضوعية: DNA methylation, clinical diagnostics, Syndrome, DNA methylation, clinical diagnostics, episignatures, neurodevelopmental syndromes, neurodevelopmental syndromes, Epigenesis, Genetic, Neurodevelopmental Disorders, Genetics, Humans, CpG Islands, DNA, Intergenic, episignatures, Episignature, Genetics (clinical)

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aaa933745b4435f831f0ab98620d9364Test
https://research.vumc.nl/en/publications/13d0dd51-76a9-4868-ac6b-44bb728ad6bfTest