المؤلفون: Sabiha Abekhoukh, H. Bahar Sahin, Mauro Grossi, Samantha Zongaro, Thomas Maurin, Irene Madrigal, Daniele Kazue-Sugioka, Annick Raas-Rothschild, Mohamed Doulazmi, Pilar Carrera, Andrea Stachon, Steven Scherer, Maria Rita Drula Do Nascimento, Alain Trembleau, Ignacio Arroyo, Peter Szatmari, Isabel M. Smith, Montserrat Milà, Adam C. Smith, Angela Giangrande, Isabelle Caillé, Barbara Bardoni

المصدر: Disease Models & Mechanisms, Vol 10, Iss 4, Pp 463-474 (2017)

مصطلحات موضوعية: Fragile X, Intellectual disability, Autism, CYFIP1, BP1-BP2 deletion, Medicine, Pathology, RB1-214

وصف الملف: electronic resource

العلاقة: http://dmm.biologists.org/content/10/4/463Test; https://doaj.org/toc/1754-8403Test; https://doaj.org/toc/1754-8411Test

الوصول الحر: https://doaj.org/article/b879a391863543d5b04344b33425077aTest

المؤلفون: Elisabet Mateu-Huertas, Laia Rodriguez-Revenga, Maria Isabel Alvarez-Mora, Irene Madrigal, Rob Willemsen, Montserrat Milà, Eulàlia Martí, Xavier Estivill

المصدر: Neurobiology of Disease, Vol 65, Iss , Pp 43-54 (2014)

مصطلحات موضوعية: Fragile X Tremor/Ataxia Syndrome, Fragile X associated Premature Ovarian Insufficiency, Early at menopause 1 (EAP1), Histone deacetylase 5 (HDAC5), Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S0969996114000072Test; https://doaj.org/toc/1095-953XTest

الوصول الحر: https://doaj.org/article/58035fb7d2a3436ba5c52018693fd325Test

المؤلفون: Julián Nevado, Sixto García-Miñaúr, María Palomares-Bralo, Elena Vallespín, Encarna Guillén-Navarro, Jordi Rosell, Cristina Bel-Fenellós, María Ángeles Mori, Montserrat Milá, Miguel del Campo, Pilar Barrúz, Fernando Santos-Simarro, Gabriela Obregón, Carmen Orellana, Harry Pachajoa, Jair Antonio Tenorio, Enrique Galán, Juan C. Cigudosa, Angélica Moresco, César Saleme, Silvia Castillo, Elisabeth Gabau, Luis Pérez-Jurado, Ana Barcia, Maria Soledad Martín, Elena Mansilla, Isabel Vallcorba, Pedro García-Murillo, Franco Cammarata-Scalisi, Natálya Gonçalves Pereira, Raquel Blanco-Lago, Mercedes Serrano, Juan Dario Ortigoza-Escobar, Blanca Gener, Verónica Adriana Seidel, Pilar Tirado, Pablo Lapunzina, Spanish PMS Working Group

مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, autistic behavior, 22q13 deletion syndrome, Phelan-McDermid syndrome (PMS), SHANK3, subtelomeric deletion syndrome, intellectual disabilities (ID)

العلاقة: https://figshare.com/articles/presentation/Presentation3_Variability_in_Phelan-McDermid_Syndrome_in_a_Cohort_of_210_Individuals_PPTX/19589446Test

الإتاحة: https://doi.org/10.3389/fgene.2022.652454.s003Test
https://figshare.com/articles/presentation/Presentation3_Variability_in_Phelan-McDermid_Syndrome_in_a_Cohort_of_210_Individuals_PPTX/19589446Test

المؤلفون: Julián Nevado, Sixto García-Miñaúr, María Palomares-Bralo, Elena Vallespín, Encarna Guillén-Navarro, Jordi Rosell, Cristina Bel-Fenellós, María Ángeles Mori, Montserrat Milá, Miguel del Campo, Pilar Barrúz, Fernando Santos-Simarro, Gabriela Obregón, Carmen Orellana, Harry Pachajoa, Jair Antonio Tenorio, Enrique Galán, Juan C. Cigudosa, Angélica Moresco, César Saleme, Silvia Castillo, Elisabeth Gabau, Luis Pérez-Jurado, Ana Barcia, Maria Soledad Martín, Elena Mansilla, Isabel Vallcorba, Pedro García-Murillo, Franco Cammarata-Scalisi, Natálya Gonçalves Pereira, Raquel Blanco-Lago, Mercedes Serrano, Juan Dario Ortigoza-Escobar, Blanca Gener, Verónica Adriana Seidel, Pilar Tirado, Pablo Lapunzina, Spanish PMS Working Group, Mena Rocío, Lleguer Roser, Fernández-Montaño Victoria, Martín Rubén, Fernández Blanca, García-Santiago Fé, Gómez del Pozo Victoria, Peña Carolina, Alhambra Norma, García Carlos, Rodríguez Juan Ramón, Martínez-Bermejo Antonio, Málaga Ignacio, Martínez-Monseny Antonio Federico, Armstrong Judith, Anticona Jennifer, Hernando-Davalillo Cristina, San Martí Adrián Alcalá, Martorell Loreto, Yubero Delia, Nunes Tania, Callaghan Mar O´, Alonso Xenia, Ramos Federico, López Jesús Casas, López-González Vanesa, M Juliana Ballesta, Armengol Lluís, González-Meneses Antonio, Borrego Salud, Roselló Mónica, Suela Javier, Pérez-Granero Ángeles, Rodríguez-Revenga Laia

المصدر: Frontiers in Genetics, Vol 13 (2022)

مصطلحات موضوعية: autistic behavior, 22q13 deletion syndrome, Phelan-McDermid syndrome (PMS), SHANK3, subtelomeric deletion syndrome, intellectual disabilities (ID), Genetics, QH426-470

العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2022.652454/fullTest; https://doaj.org/toc/1664-8021Test; https://doaj.org/article/45e2ed9b52f940b0bd31664eea90cf57Test

الإتاحة: https://doi.org/10.3389/fgene.2022.652454Test
https://doaj.org/article/45e2ed9b52f940b0bd31664eea90cf57Test

المؤلفون: Krista Charen, J. Christopher Rounds, Maureen A. Leehey, L. Rodriguez-Revenga, Lisa Shubeck, Heather S. Hipp, James N. Macpherson, Michael P. Epstein, Montserrat Milà, H. Richard Johnston, Anna Murray, Michael E. Zwick, Stephanie L. Sherman, Deborah A. Hall, Emily G. Allen, Jessica B. Spencer, Peng Jin, Elizabeth Berry-Kravis, Ying Liu, Dave J. Cutler, Cristina E. Trevino, Corrine K. Welt, Stephen T. Warren

المصدر: Fertility and sterility

مصطلحات موضوعية: Adult, 0301 basic medicine, Fragile X-associated disorders, Fragile x, Age at menopause, Primary ovarian insufficiency, Susceptibility gene, Deoxyribonucleic acid sample, Primary Ovarian Insufficiency, Bioinformatics, Risk Assessment, Article, Animals, Genetically Modified, Fragile X Mental Retardation Protein, 03 medical and health sciences, 0302 clinical medicine, Risk Factors, Animals, Humans, Medicine, Genetic Predisposition to Disease, Gene, FXPOI, Whole genome sequencing, 030219 obstetrics & reproductive medicine, SUMO1, business.industry, Ovary, Age Factors, Obstetrics and Gynecology, Middle Aged, medicine.disease, Menopause, Drosophila melanogaster, Fertility, Phenotype, 030104 developmental biology, Reproductive Medicine, Case-Control Studies, Mutation, Female, KRR1, business, Genetic Background, Genome-Wide Association Study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13d75e5e7520dc21ab21f248ccfd4d17Test
https://doi.org/10.1016/j.fertnstert.2021.04.021Test

المؤلفون: Montserrat Milà Recasens, Montserrat Izquierdo Renau, Josep Maria Martínez Crespo, Joan Sabrià Bach, Cristina Molinet Coll, Ana Alarcón Allen, Olga Gómez Del Rincón, David Monk

المصدر: Journal of Clinical Ultrasound. 49:498-501

مصطلحات موضوعية: Thorax, Polyhydramnios, Pediatrics, medicine.medical_specialty, Respiratory distress, business.industry, Prenatal diagnosis, 030204 cardiovascular system & hematology, medicine.disease, 030218 nuclear medicine & medical imaging, Protuberant abdomen, Abdominal wall, 03 medical and health sciences, 0302 clinical medicine, medicine.anatomical_structure, Intellectual disability, medicine, Radiology, Nuclear Medicine and imaging, business, Congenital disorder

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::32bbd1ccb9b9a592ea1be5dfa9637b5eTest
https://doi.org/10.1002/jcu.22942Test

المؤلفون: Lidia Carreño-Gago, Montserrat Milà, Francisco Martínez, Maria Isabel Tejada, Maria Isabel Alvarez-Mora, L. Rodriguez-Revenga, Irene Madrigal, Silvia Izquierdo-Alvarez, Cristina Santos, Elena García-Arumí

المصدر: Mitochondrion
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname

مصطلحات موضوعية: Male, 0301 basic medicine, Mitochondrial DNA, Ataxia, Biology, Heteroplasmy, DNA, Mitochondrial, Haplogroup, Fragile X Mental Retardation Protein, 03 medical and health sciences, 0302 clinical medicine, Gene Frequency, Tremor, medicine, Humans, Molecular Biology, Genetic Association Studies, Genetics, Massive parallel sequencing, Whole Genome Sequencing, Genetic Variation, High-Throughput Nucleotide Sequencing, Low-level heteroplasmic variants, Cell Biology, Middle Aged, medicine.disease, FMR1, Mitochondria, Mitogenome, 030104 developmental biology, Risk factors, Fragile X Syndrome, mtDNA haplogroups, Molecular Medicine, FXTAS, medicine.symptom, FMR1 premutation, 030217 neurology & neurosurgery, Fragile X-associated tremor/ataxia syndrome, Human mitochondrial DNA haplogroup

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::08ba368188d7a10016138adfc04c8f86Test
https://doi.org/10.1016/j.mito.2020.03.004Test

المؤلفون: Julián Nevado, Sixto García-Miñaúr, María Palomares-Bralo, Elena Vallespín, Encarna Guillén-Navarro, Jordi Rosell, Cristina Bel-Fenellós, María Ángeles Mori, Montserrat Milá, Miguel del Campo, Pilar Barrúz, Fernando Santos-Simarro, Gabriela Obregón, Carmen Orellana, Harry Pachajoa, Jair Antonio Tenorio, Enrique Galán, Juan C. Cigudosa, Angélica Moresco, César Saleme, Silvia Castillo, Elisabeth Gabau, Luis Pérez-Jurado, Ana Barcia, Maria Soledad Martín, Elena Mansilla, Isabel Vallcorba, Pedro García-Murillo, Franco Cammarata-Scalisi, Natálya Gonçalves Pereira, Raquel Blanco-Lago, Mercedes Serrano, Juan Dario Ortigoza-Escobar, Blanca Gener, Verónica Adriana Seidel, Pilar Tirado, Pablo Lapunzina, Spanish PMS Working Group

مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, autistic behavior, 22q13 deletion syndrome, Phelan-McDermid syndrome (PMS), SHANK3, subtelomeric deletion syndrome, intellectual disabilities (ID)

العلاقة: https://figshare.com/articles/dataset/Table1_Variability_in_Phelan-McDermid_Syndrome_in_a_Cohort_of_210_Individuals_XLSX/19589461Test

الإتاحة: https://doi.org/10.3389/fgene.2022.652454.s008Test
https://figshare.com/articles/dataset/Table1_Variability_in_Phelan-McDermid_Syndrome_in_a_Cohort_of_210_Individuals_XLSX/19589461Test

المؤلفون: Laia Rodriguez-Revenga, Beatriz Gómez-Ansón, Esther Granell Moreno, Javier Pagonabarraga, Montserrat Mila

المصدر: https://www.intechopen.com/books/1348Test.

مصطلحات موضوعية: Neuroimaging - Clinical Applications

العلاقة: https://mts.intechopen.com/articles/show/title/neuroimagin-in-fragile-x-associated-tremor-ataxia-syndrome-fxtasTest-

الإتاحة: https://doi.org/10.5772/24016Test
https://mts.intechopen.com/articles/show/title/neuroimagin-in-fragile-x-associated-tremor-ataxia-syndrome-fxtasTest-

المؤلفون: Emily G. Allen, Stephanie L. Sherman, Gary J. Latham, James N. Macpherson, Andrew Hadd, Nicole Tortora, Carl Dobkin, Anne Glicksman, Angela Maria Vianna-Morgante, Sarah L. Nolin, Montserrat Milà

المصدر: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
American Journal of Medical Genetics. Part a

مصطلحات موضوعية: Male, 0301 basic medicine, Fragile x, Inheritance Patterns, fragile X, Gene Expression, 030105 genetics & heredity, Biology, Fragile X Mental Retardation Protein, 03 medical and health sciences, Gene Frequency, trinucleotide repeat instability, Genetics, Humans, Allele, FMR1, Alleles, Genetics (clinical), MUTAÇÃO GENÉTICA, Original Articles, Pedigree, 030104 developmental biology, Cgg repeat, Fragile X Syndrome, Original Article, Female, Trinucleotide Repeat Expansion, Premutation allele

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c6cdbad2198a99d303a07d500eee858Test
https://doi.org/10.1002/ajmg.a.61165Test