المؤلفون: Deborah J. G. Mackay, Gabriella Gazdagh, David Monk, Frederic Brioude, Eloise Giabicani, Izabela M. Krzyzewska, Jennifer M. Kalish, Saskia M. Maas, Masayo Kagami, Jasmin Beygo, Tiina Kahre, Jair Tenorio-Castano, Laima Ambrozaitytė, Birutė Burnytė, Flavia Cerrato, Justin H. Davies, Giovanni Battista Ferrero, Olga Fjodorova, Africa Manero-Azua, Arrate Pereda, Silvia Russo, Pierpaola Tannorella, Karen I. Temple, Katrin Õunap, Andrea Riccio, Guiomar Perez de Nanclares, Eamonn R. Maher, Pablo Lapunzina, Irène Netchine, Thomas Eggermann, Jet Bliek, Zeynep Tümer

المصدر: Clinical Epigenetics, Vol 16, Iss 1, Pp 1-19 (2024)

مصطلحات موضوعية: Differentially methylated regions, DMR, Multi-locus imprinting disturbance, MLID, Imprinting disorder, Clinical diagnosis, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1868-7083

URL الوصول: https://doaj.org/article/55647b2d116f4168a75d09b18186ddb5

المؤلفون: Afif Ben-Mahmoud, Shotaro Kishikawa, Vijay Gupta, Natalia T. Leach, Yiping Shen, Oana Moldovan, Himanshu Goel, Bruce Hopper, Kara Ranguin, Nicolas Gruchy, Saskia M Maas, Yves Lacassie, Soo-Hyun Kim, Woo-Yang Kim, Bradley J. Quade, Cynthia C. Morton, Cheol-Hee Kim, Lawrence C. Layman, Hyung-Goo Kim

المصدر: Scientific Reports, Vol 13, Iss 1, Pp 1-23 (2023)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2045-2322

URL الوصول: https://doaj.org/article/bf1deb454d1b4cdc861f88bc21658a2b

المؤلفون: Alexander J. M. Dingemans, Kim M. G. Truijen, Sam van de Ven, Raphael Bernier, Ernie M. H. F. Bongers, Arjan Bouman, Laura de Graaff – Herder, Evan E. Eichler, Erica H. Gerkes, Christa M. De Geus, Johanna M. van Hagen, Philip R. Jansen, Jennifer Kerkhof, Anneke J. A. Kievit, Tjitske Kleefstra, Saskia M. Maas, Stella A. de Man, Haley McConkey, Wesley G. Patterson, Amy T. Dobson, Eloise J. Prijoles, Bekim Sadikovic, Raissa Relator, Roger E. Stevenson, Connie T. R. M. Stumpel, Malou Heijligers, Kyra E. Stuurman, Katharina Löhner, Shimriet Zeidler, Jennifer A. Lee, Amanda Lindy, Fanggeng Zou, Matthew L. Tedder, Lisenka E. L. M. Vissers, Bert B. A. de Vries

المصدر: Translational Psychiatry, Vol 12, Iss 1, Pp 1-11 (2022)

مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2158-3188

URL الوصول: https://doaj.org/article/7ea31eb997db422aa3beb7b35aae7a11

المؤلفون: Eline A. Verberne, Liselot van der Laan, Sadegheh Haghshenas, Kathleen Rooney, Michael A. Levy, Mariëlle Alders, Saskia M. Maas, Sandra Jansen, Agne Lieden, Britt-Marie Anderlid, Louise Rafael-Croes, Philippe M. Campeau, Ayeshah Chaudhry, David A. Koolen, Rolph Pfundt, Anna C. E. Hurst, Frederic Tran-Mau-Them, Ange-Line Bruel, Laetitia Lambert, Bertrand Isidor, Marcel M. A. M. Mannens, Bekim Sadikovic, Peter Henneman, Mieke M. van Haelst

المصدر: International Journal of Molecular Sciences, Vol 23, Iss 14, p 8001 (2022)

مصطلحات موضوعية: JARID2, developmental disorder, DNA methylation, epigenetics, episignature, Biology (General), QH301-705.5, Chemistry, QD1-999

وصف الملف: electronic resource

Relation: https://www.mdpi.com/1422-0067/23/14/8001; https://doaj.org/toc/1661-6596; https://doaj.org/toc/1422-0067

URL الوصول: https://doaj.org/article/eb24dc9067e04b99b978e8893b3f211c

المؤلفون: Saskia M. Maas, Izabela M. Krzyzewska, Maria P. R. Lombardi, Marcel M. A. Mannens, Niels Vos, Jet Bliek

المساهمون: Human genetics, Human Genetics, ANS - Complex Trait Genetics, ANS - Cellular & Molecular Mechanisms, ACS - Pulmonary hypertension & thrombosis, ARD - Amsterdam Reproduction and Development, Graduate School

المصدر: European Journal of Human Genetics, 31(6), 615-616
European journal of human genetics. Nature Publishing Group
Maas, S M, Krzyzewska, I M, Lombardi, M P R, Mannens, M M A, Vos, N & Bliek, J 2023, ' Should testing for mosaic genome-wide paternal uniparental disomy in Beckwith-Wiedemann spectrum (BWSp) be implemented in diagnostic testing? ', European Journal of Human Genetics, vol. 31, no. 6, pp. 615-616 . https://doi.org/10.1038/s41431-023-01354-4

مصطلحات موضوعية: Genetics, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::94afc7604695208b612f63cea1fbb45b
http://www.scopus.com/inward/record.url?scp=85151465636&partnerID=8YFLogxK

المؤلفون: Stephen P. Robertson, Joost van Schuppen, Ronald H. Lekanne Deprez, Marielle Alders, Marja W. Wessels, Lynne Rumping, Alex V. Postma, Marjon van Slegtenhorst, J. Peter van Tintelen, Saskia M. Maas, Jasper J. Saris

المساهمون: Human Genetics, Medical Biology, ACS - Heart failure & arrhythmias, ACS - Pulmonary hypertension & thrombosis, Amsterdam Cardiovascular Sciences, Amsterdam Reproduction & Development (AR&D), Radiology and Nuclear Medicine, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Amsterdam Neuroscience - Complex Trait Genetics, Clinical Genetics

المصدر: American journal of medical genetics. Part A, 185(12), 3814-3820. Wiley-Liss Inc.
American Journal of Medical Genetics, Part A, 185(12), 3814-3820. Wiley-Liss Inc.

مصطلحات موضوعية: Proband, Noncompaction cardiomyopathy, Pathology, medicine.medical_specialty, business.industry, phenotype–genotype correlation, Cardiomyopathy, Restrictive cardiomyopathy, medicine.disease, Terminal osseous dysplasia with pigmentary defects, terminal osseous dysplasia with pigmentary defects, FLNA, Exon, filaminopathies, Dysplasia, Genetics, medicine, business, cardiomyopathy, Genetics (clinical)

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6485f2c3e96cb82d65c6c55f243a946
https://doi.org/10.1002/ajmg.a.62417

المؤلفون: null Saskia M Maas

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::f7d08631a11e71be7a015811ee213683
https://doi.org/10.1111/cge.14299/v2/review1

المؤلفون: Ange Line Bruel, Katherine A. Bosanko, Abeltje M. Polstra, Agne Liedén, Marcel M.A.M. Mannens, R. Pfundt, Frédérick A. Mallette, Britt-Marie Anderlid, Kieran B. Pechter, Louise Rafael-Croes, Madhura Bakshi, Saskia M. Maas, Dagmar Glatz, R. Frank Kooy, Natalie Lippa, Philippe M. Campeau, Yuri A. Zarate, Jade England, Mieke M. van Haelst, Megan Boothe, Kosuke Izumi, Manon van Ginkel, Vimla Aggarwal, Anna Lehman, Eline A. Verberne, Zornitza Stark, Christopher M. Richmond, Marije Meuwissen, Darryl C. De Vivo, Pankaj B. Agrawal, Shuxiang Goh, Jennifer M. Lemons, Bertrand Isidor, Ayeshah Chaudhry, Causes Study, Emma Bedoukian, Nathaniel H. Robin, David A. Koolen, Sylvia Stockler, David Rodriguez-Buritica

المساهمون: Human genetics, Amsterdam Neuroscience - Complex Trait Genetics, Amsterdam Reproduction & Development (AR&D), Human Genetics, Graduate School, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, ACS - Pulmonary hypertension & thrombosis

المصدر: Genetics in medicine
Genetics in Medicine, 23(2), 374-383. Lippincott Williams and Wilkins
Genetics in Medicine, 23, 2, pp. 374-383
Verberne, E A, Goh, S, England, J, van Ginkel, M, Rafael-Croes, L, Maas, S, Polstra, A, Zarate, Y A, Bosanko, K A, Pechter, K B, Bedoukian, E, Izumi, K, Chaudhry, A, Robin, N H, Boothe, M, Lippa, N C, Aggarwal, V, De Vivo, D C, Lehman, A, Study, C, Stockler, S, Bruel, A L, Isidor, B, Lemons, J, Rodriguez-Buritica, D F, Richmond, C M, Stark, Z, Agrawal, P B, Kooy, R F, Meuwissen, M E C, Koolen, D A, Pfundt, R, Lieden, A, Anderlid, B M, Glatz, D, Mannens, M M A M, Bakshi, M, Mallette, F A, van Haelst, M M & Campeau, P M 2021, ' JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome ', Genetics in Medicine, vol. 23, no. 2, pp. 374-383 . https://doi.org/10.1038/s41436-020-00992-z
Genetics in medicine, 23(2), 374-383. Lippincott Williams and Wilkins
Genetics in Medicine, 23, 374-383

مصطلحات موضوعية: 0301 basic medicine, Heterozygote, Haploinsufficiency, 030105 genetics & heredity, Biology, 03 medical and health sciences, Exome Sequencing, Intellectual disability, medicine, Humans, Copy-number variation, Gene, Genetics (clinical), Exome sequencing, Genetics, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], neurodevelopment, Microarray analysis techniques, Polycomb Repressive Complex 2, Chromosome, Syndrome, medicine.disease, developmental delay, Phenotype, 030104 developmental biology, Neurodevelopmental Disorders, intellectual disability, Histone methyltransferase, Human medicine, JARID2

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1724e7c9470d5988fb6a5d2c3c686577
https://doi.org/10.1038/s41436-020-00992-z

المؤلفون: Cyril Goizet, Arthur Sorlin, Antonio Novelli, Christophe Philippe, Mathilde Nizon, Joan M. Stoler, Maria J. Guillen Sacoto, Marielle Alders, Grace Yoon, Binnaz Yalcin, Aurélien Trimouille, Anna R. Duncan, Valerie E. Vancollie, Emanuele Agolini, Lance H. Rodan, Monica H. Wojcik, Christopher J. Lelliott, Saskia M. Maas, Antonio Vitobello, Pankaj B. Agrawal, Ange Line Bruel, Laurence Faivre, Paolo Prontera, Stephan C. Collins, Teresa Santiago-Sim, Casie A. Genetti, Ann Seman, Jiahai Shi, Marieke F. van Dooren, Patricia Ellen Grant

المساهمون: Clinical Genetics, Boston Children's Hospital, Unité fonctionnelle d' Innovation en Diagnostic Génomique des Maladies Rares (CHU Dijon) (UF6254), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Equipe GAD (LNC - U1231), Lipides - Nutrition - Cancer [Dijon - U1231] (LNC), Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Agro Dijon, Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro)-Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro)-Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Agro Dijon, Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro)-Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro), Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon), FHU TRANSLAD (CHU de Dijon), The Wellcome Trust Sanger Institute [Cambridge], City University of Hong Kong [Hong Kong] (CUHK), Bambino Gesù Children’s Hospital [Rome, Italy], Università degli Studi di Perugia = University of Perugia (UNIPG), GeneDx [Gaithersburg, MD, USA], Service de génétique médicale, Université de Bordeaux (UB)-CHU Bordeaux [Bordeaux]-Groupe hospitalier Pellegrin, Centre hospitalier universitaire de Nantes (CHU Nantes), Erasmus University Medical Center [Rotterdam] (Erasmus MC), Amsterdam UMC - Amsterdam University Medical Center, Centre de référence des maladies rares des déficiences intellectuelles de causes rares (CHU Dijon) (CRMR des déficiences intellectuelles de causes rares), The Hospital for sick children [Toronto] (SickKids), Dupuis, Christine, Human Genetics, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, ACS - Pulmonary hypertension & thrombosis, Amsterdam Reproduction & Development (AR&D), Lelliott, Christopher [0000-0001-8087-4530], Apollo - University of Cambridge Repository

المصدر: Am J Hum Genet
American Journal of Human Genetics, 107(6), 1170-1177. Cell Press
American Journal of Human Genetics
American Journal of Human Genetics, 2020, 107, pp.1170-1177. ⟨10.1016/j.ajhg.2020.11.001⟩
American journal of human genetics, 107(6), 1170-1177. Cell Press

مصطلحات موضوعية: 0301 basic medicine, Male, Jumonji Domain-Containing Histone Demethylases, [SDV]Life Sciences [q-bio], Developmental Disabilities, Corpus callosum, Hippocampus, Epigenesis, Genetic, Histones, Mice, 0302 clinical medicine, Neurodevelopmental disorder, Polymicrogyria, Global developmental delay, Agenesis of the corpus callosum, Genetics (clinical), Brain, Magnetic Resonance Imaging, [SDV] Life Sciences [q-bio], intellectual disability, Brain size, Female, dysmorphic hippocampi, Signal Transduction, Heterozygote, heterozygous variant, global developmental delay, Biology, Nervous System Malformations, Methylation, 03 medical and health sciences, Seizures, Report, KDM4B, Genetics, medicine, Animals, Humans, neurodevelopmental disorder, Dentate gyrus, Genetic Variation, JMJD2B, medicine.disease, 030104 developmental biology, agenesis of the corpus callosum, Neuroscience, Protein Processing, Post-Translational, 030217 neurology & neurosurgery, Ventriculomegaly

وصف الملف: application/pdf; application/octet-stream

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::592c35ef10812d50a8a6b3d94bb003ff
http://www.scopus.com/inward/record.url?scp=85097310504&partnerID=8YFLogxK

المؤلفون: Elsa M. Ronde, Jitske W. Nolte, Frea H. Kruisinga, Saskia M. Maas, Oren Lapid, Fenna A. Ebbens, Alfred G. Becking, Corstiaan C. Breugem

المساهمون: Oral and Maxillofacial Surgery / Oral Pathology, Plastic, Reconstructive and Hand Surgery

المصدر: Cleft Palate-Craniofacial Journal

مصطلحات موضوعية: Otorhinolaryngology, Oral Surgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c35e4a955d8815b19a530584bfcc5e4d
https://research.vumc.nl/en/publications/046e0423-04e3-434b-a025-617c43c11d45