المؤلفون: Larissa Bilo, Eguzkine Ochoa, Sunwoo Lee, Daniela Dey, Ingo Kurth, Florian Kraft, Fay Rodger, France Docquier, Ana Toribio, Leonardo Bottolo, Gerhard Binder, György Fekete, Miriam Elbracht, Eamonn R. Maher, Matthias Begemann, Thomas Eggermann

المصدر: Clinical Epigenetics, Vol 15, Iss 1, Pp 1-12 (2023)

مصطلحات موضوعية: Beckwith–Wiedemann syndrome, Silver–Russell syndrome, Multilocus imprinting disturbances, Maternal effect variants, ImprintSeq, MS-MLPA, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

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

URL الوصول: https://doaj.org/article/72db940598164642b5188d503706398c

المؤلفون: Bilo, Larissa, Ochoa, Eguzkine, Lee, Sunwoo, Dey, Daniela, Kurth, Ingo, Kraft, Florian, Rodger, Fay, Docquier, France, Toribio, Ana, Bottolo, Leonardo, Binder, Gerhard, Fekete, György, Elbracht, Miriam, Maher, Eamonn R, Begemann, Matthias, Eggermann, Thomas

المصدر: essn: 1868-7083 ; nlmid: 101516977

مصطلحات موضوعية: Beckwith–Wiedemann syndrome, ImprintSeq, MS-MLPA, Maternal effect variants, Multilocus imprinting disturbances, Silver–Russell syndrome, Whole-exome sequencing, DNA Methylation, Genomics, Genotype, High-Throughput Nucleotide Sequencing

وصف الملف: application/pdf

Relation: https://www.repository.cam.ac.uk/handle/1810/348247

الاتاحة: https://www.repository.cam.ac.uk/handle/1810/348247
https://doi.org/10.17863/CAM.95663

المؤلفون: Pignata, Laura, Cecere, Francesco, Verma, Ankit, Hay Mele, Bruno, Monticelli, Maria, Acurzio, Basilia, Giaccari, Carlo, Sparago, Angela, Hernandez Mora, Jose Ramon, Monteagudo-Sánchez, Ana, Esteller, Manel, Pereda, Arrate, Tenorio-Castano, Jair, Palumbo, Orazio, Carella, Massimo, Prontera, Paolo, Piscopo, Carmelo, Accadia, Maria, Lapunzina, Pablo, Cubellis, Maria Vittoria, de Nanclares, Guiomar Perez, Monk, David, Riccio, Andrea, Cerrato, Flavia

المساهمون: Pignata, Laura, Cecere, Francesco, Verma, Ankit, Hay Mele, Bruno, Monticelli, Maria, Acurzio, Basilia, Giaccari, Carlo, Sparago, Angela, Hernandez Mora, Jose Ramon, Monteagudo-Sánchez, Ana, Esteller, Manel, Pereda, Arrate, Tenorio-Castano, Jair, Palumbo, Orazio, Carella, Massimo, Prontera, Paolo, Piscopo, Carmelo, Accadia, Maria, Lapunzina, Pablo, Cubellis, Maria Vittoria, de Nanclares, Guiomar Perez, Monk, David, Riccio, Andrea, Cerrato, Flavia

مصطلحات موضوعية: Multi-locus imprinting disturbance Beckwith–Wiedemann syndrome Pseudohypoparathyroidism Genomic imprinting DNA methylation Maternal-effect variants Subcortical maternal complex Recurrent pregnancy loss Infertility

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000801180200001; volume:14; issue:1; journal:CLINICAL EPIGENETICS; http://hdl.handle.net/11588/887191; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85130798464

الاتاحة: http://hdl.handle.net/11588/887191
https://doi.org/10.1186/s13148-022-01292-w

المؤلفون: Faisal I. Rezwan, Flavia Cerrato, Andrea Riccio, Laura Pignata, Deborah J G Mackay, Maria Vittoria Cubellis, Ankit Verma, Claudia Angelini, Maria Grazia Patricelli, Massimo Carella, Luciano Calzari, Naomi De Francesco, Rosita Del Prete, Angela Sparago, Silvia Russo, Orazio Palumbo

المساهمون: Sparago, A., Verma, A., Patricelli, M. G., Pignata, L., Russo, S., Calzari, L., De Francesco, N., Del Prete, R., Palumbo, O., Carella, M., Mackay, D. J. G., Rezwan, F. I., Angelini, C., Cerrato, F., Cubellis, M. V., Riccio, A.

المصدر: Clinical Epigenetics
Clinical epigenetics (Internet) 11 (2019). doi:10.1186/s13148-019-0760-8
info:cnr-pdr/source/autori:Angela Sparago, Ankit Verma, Maria Grazia Patricelli, Laura Pignata, Silvia Russo, Luciano Calzari, Naomi De Francesco, Rosita Del Prete, Orazio Palumbo, Massimo Carella, Deborah J. G. Mackay, Faisal I. Rezwan, Claudia Angelini, Flavia Cerrato, Maria Vittoria Cubellis, Andrea Riccio/titolo:The phenotypic variations of multi-locus imprinting disturbances associated with maternal-effect variants of NLRP5 range from overt imprinting disorder to apparently healthy phenotype/doi:10.1186%2Fs13148-019-0760-8/rivista:Clinical epigenetics (Internet)/anno:2019/pagina_da:/pagina_a:/intervallo_pagine:/volume:11

مصطلحات موضوعية: Male, Genomic imprinting, Multi-locus imprinting disturbance, Beckwith–Wiedemann syndrome, Short Report, DNA- methylation, Biology, Compound heterozygosity, Autoantigens, NLRP5, Mitochondrial Proteins, Young Adult, Loss of Function Mutation, Exome Sequencing, Genetics, medicine, Humans, Imprinting (psychology), Maternal-effect variants, Child, Molecular Biology, Genetics (clinical), Maternal-effect variant, Nuclear Proteins, Sequence Analysis, DNA, medicine.disease, Phenotype, Human genetics, Pedigree, Abortion, Spontaneous, Differentially methylated regions, Multi-locus imprinting disturbances, DNA methylation, Beckwith-Wiedemann syndrome, Female, Maternal Inheritance, DNA-methylation, Developmental Biology, Genome-Wide Association Study

وصف الملف: text

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bc3ba53c5a07a1165e0404a6c663745f