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المساهمون: Pennsylvania State University (Penn State), Penn State System, Baylor College of Medicine (BCM), Baylor University, Center for Integrative Genomics - Institute of Bioinformatics, Génopode (CIG), Swiss Institute of Bioinformatics [Lausanne] (SIB), Université de Lausanne (UNIL)-Université de Lausanne (UNIL), Michigan State University [East Lansing], Michigan State University System, McMaster University [Hamilton, Ontario], Service de génétique médicale - Unité de génétique clinique [Nantes], Université de Nantes (UN)-Centre hospitalier universitaire de Nantes (CHU Nantes), Antwerp University Hospital [Edegem] (UZA), Murdoch Children's Research Institute (MCRI), Department of Clinical Genetics (Academic Medical Center, University of Amsterdam), VU University Medical Center [Amsterdam], Perelman School of Medicine, University of Pennsylvania [Philadelphia], Medical Genetics, Service de Génétique Médicale, Hôpital Bretonneau, Tours, Laboratoire de génétique médicale et cytogénétique [Le Mans], Centre Hospitalier Le Mans (CH Le Mans), Laboratoire de Génétique Chromosomique et Moléculaire [CHU Dijon], Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Centre Hospitalier Universitaire de Liège (CHU-Liège), Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon), Greenwood Genetic Center, CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Greenwood Genetic Center [Greenwood, South Carolina, USA], Institut de Génétique Médicale [CHRU Lille], Hôpital Jeanne de Flandre [Lille]-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Human genetics, Amsterdam Neuroscience - Complex Trait Genetics, Amsterdam Reproduction & Development (AR&D)

المصدر: Genetics in Medicine
Genetics in Medicine, Nature Publishing Group, In press, ⟨10.1038/s41436-018-0266-3⟩
Genetics in Medicine, 21(4), 816-825. Lippincott Williams and Wilkins
Genetics in medicine : official journal of the American College of Medical Genetics
Genetics in medicine, vol. 21, no. 4, pp. 816-825
Pizzo, L, Jensen, M, Polyak, A, Rosenfeld, J A, Mannik, K, Krishnan, A, McCready, E, Pichon, O, Le Caignec, C, Van Dijck, A, Pope, K, Voorhoeve, E, Yoon, J, Stankiewicz, P, Cheung, S W, Pazuchanics, D, Huber, E, Kumar, V, Kember, R L, Mari, F, Curró, A, Castiglia, L, Galesi, O, Avola, E, Mattina, T, Fichera, M, Mandarà, L, Vincent, M, Nizon, M, Mercier, S, Bénéteau, C, Blesson, S, Martin-Coignard, D, Mosca-Boidron, A L, Caberg, J H, Bucan, M, Zeesman, S, Nowaczyk, M J M, Lefebvre, M, Faivre, L, Callier, P, Skinner, C, Keren, B, Perrine, C, Prontera, P, Marle, N, Renieri, A, Reymond, A, Kooy, R F, Isidor, B, Schwartz, C, Romano, C, Sistermans, E, Amor, D J, Andrieux, J & Girirajan, S 2019, ' Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants ', Genetics in Medicine, vol. 21, no. 4, pp. 816-825 . https://doi.org/10.1038/s41436-018-0266-3Test
Genetics in medicine

مصطلحات موضوعية: Male, Parents, 0301 basic medicine, Proband, Neuronal, Genetic Carrier Screening, 16p11.2 deletion, 030105 genetics & heredity, Cognition, Family history, Neural Cell Adhesion Molecules, Genetics (clinical), Exome sequencing, Sequence Deletion, Genetics, Phenotype, Penetrance, Pedigree, Autistic Disorder/genetics, Autistic Disorder/physiopathology, Cell Adhesion Molecules, Neuronal/genetics, Chromosomes, Human, Pair 16/genetics, Cognition/physiology, DNA Copy Number Variations/genetics, Female, Gene Expression Regulation/genetics, Genetic Background, Humans, Methyltransferases/genetics, Nerve Tissue Proteins/genetics, Proteins/genetics, Sequence Deletion/genetics, Siblings, CNV, autism, modifier, phenotypic variability, Human, DNA Copy Number Variations, Cell Adhesion Molecules, Neuronal, Nerve Tissue Proteins, Biology, Chromosomes, Article, 03 medical and health sciences, mental disorders, medicine, Autistic Disorder, Gene, Pair 16, Calcium-Binding Proteins, Proteins, Methyltransferases, medicine.disease, Cytoskeletal Proteins, 030104 developmental biology, Gene Expression Regulation, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Autism, Human medicine, Chromosomes, Human, Pair 16, Cell Adhesion Molecules, Transcription Factors

وصف الملف: application/pdf; pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dbf6c41b5e591ac3592571ea1af83d4bTest
http://www.scopus.com/inward/record.url?scp=85053071043&partnerID=8YFLogxKTest

8

Polymorphic Inversions Underlie the Shared Genetic Susceptibility of Obesity-Related Diseases

المؤلفون: Marta Guindo-Martínez, Tõnu Esko, David Torrents, Alejandro Cáceres, Carlos Ruiz-Arenas, Josep M. Mercader, Marcos López-Sánchez, Juan R. González, Lorena Alonso, Luis A. Pérez-Jurado, Ignasi Moran, Josefa González, Ignacio Tolosana

المساهمون: European Commission, Ministerio de Ciencia, Innovación y Universidades (España), Agencia Estatal de Investigación (España), Generalitat de Catalunya, Instituto de Salud Carlos III, Ministerio de Economía y Competitividad (España), National Institutes of Health (US)

المصدر: Am J Hum Genet
Digital.CSIC. Repositorio Institucional del CSIC
instname

مصطلحات موضوعية: Adult, Male, Candidate gene, Adolescent, Datasets as Topic, Single-nucleotide polymorphism, Biology, Polymorphism, Single Nucleotide, Article, Transcriptome, Islets of Langerhans, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Diabetes mellitus, Diabetes Mellitus, Genetics, Genetic predisposition, medicine, Humans, Genetic Predisposition to Disease, Obesity, Gene, Alleles, Genetics (clinical), Aged, 030304 developmental biology, Genetic association, Aged, 80 and over, 0303 health sciences, Polymorphism, Genetic, Gene Expression Profiling, Reproducibility of Results, Middle Aged, medicine.disease, 3. Good health, Europe, Haplotypes, Chromosome Inversion, Hypertension, Female, Chromosomes, Human, Pair 16, 030217 neurology & neurosurgery, Chromosomes, Human, Pair 8

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f50be76572d4fbdfad636dbb2c9039dTest
https://doi.org/10.1016/j.ajhg.2020.04.017Test

9

Who ever heard of 16p11.2 deletion syndrome? Parents’ perspectives on a susceptibility copy number variation syndrome

المؤلفون: Lidewij Henneman, Mieke M. van Haelst, Lotte Kleinendorst, Lieke M. van den Heuvel

المساهمون: Human genetics, Amsterdam Reproduction & Development (AR&D), Amsterdam Neuroscience - Complex Trait Genetics, APH - Quality of Care, Human Genetics, Graduate School, Amsterdam Gastroenterology Endocrinology Metabolism, ACS - Heart failure & arrhythmias, APH - Personalized Medicine, ACS - Pulmonary hypertension & thrombosis

المصدر: Kleinendorst, L, van den Heuvel, L M, Henneman, L & van Haelst, M M 2020, ' Who ever heard of 16p11.2 deletion syndrome? Parents' perspectives on a susceptibility copy number variation syndrome ', European Journal of Human Genetics, vol. 28, no. 9, pp. 1196-1204 . https://doi.org/10.1038/s41431-020-0644-6Test
European Journal of Human Genetics
European Journal of Human Genetics, 28(9), 1196-1204. Nature Publishing Group
European journal of human genetics, 28(9), 1196-1204. Nature Publishing Group

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ccbe389fed567d43c8ccace60901570Test
https://doi.org/10.1038/s41431-020-0644-6Test

10

Prenatal diagnosis and clinical significance of cephalocele—A single institution experience and literature review

المؤلفون: Alicja Ilnicka, Anna Kucińska-Chahwan, Beata Nowakowska, Anna Beneturska, Tomasz Roszkowski, Grzegorz Panek, Sylwia Dąbkowska, Julia Bijok

المصدر: Prenatal Diagnosis. 40:612-617

مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, Chromosomes, Human, Pair 22, Perinatal Death, Trisomy, Prenatal diagnosis, 030105 genetics & heredity, Ultrasonography, Prenatal, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Pregnancy, Chromosome Duplication, Humans, Medicine, Abnormalities, Multiple, Clinical significance, Genetics (clinical), Encephalocele, Retrospective Studies, Genetic testing, Polycystic Kidney Diseases, 030219 obstetrics & reproductive medicine, Cephalocele, medicine.diagnostic_test, business.industry, Obstetrics, Mortality rate, Infant, Newborn, Obstetrics and Gynecology, Abortion, Induced, Retrospective cohort study, medicine.disease, Abortion, Spontaneous, Cytoskeletal Proteins, Chromosomes, Human, Pair 6, Female, Amniotic Band Syndrome, Chromosome Deletion, business, Chromosomes, Human, Pair 16, Retinitis Pigmentosa, Ciliary Motility Disorders

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e3c93e93c69f768f027bda5a0fd09bb9Test
https://doi.org/10.1002/pd.5654Test

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