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1دورية أكاديمية
المؤلفون: Jair Tenorio-Castaño, Beatriz Morte, Julián Nevado, Víctor Martinez-Glez, Fernando Santos-Simarro, Sixto García-Miñaúr, María Palomares-Bralo, Marta Pacio-Míguez, Beatriz Gómez, Pedro Arias, Alba Alcochea, Juan Carrión, Patricia Arias, Berta Almoguera, Fermina López-Grondona, Isabel Lorda-Sanchez, Enrique Galán-Gómez, Irene Valenzuela, María Pilar Méndez Perez, Ivón Cuscó, Francisco Barros, Juan Pié, Sergio Ramos, Feliciano J. Ramos, Alma Kuechler, Eduardo Tizzano, Carmen Ayuso, Frank J. Kaiser, Luis A. Pérez-Jurado, Ángel Carracedo, The ENoD-CIBERER Consortium, The SIDE Consortium, Pablo Lapunzina
المصدر: Genes, Vol 12, Iss 5, p 738 (2021)
مصطلحات موضوعية: Schuurs–Hoeijmakers syndrome, intellectual disability, PACS1, rare disorders, phosphofurin acidic cluster sorting protein 1, pathogenic variant c.607C >, Genetics, QH426-470
وصف الملف: electronic resource
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المؤلفون: Enrique Galán-Gómez, Samuel Bonilla-Fornés, Karen E. Heath, Pilar Méndez Pérez, Manuel Parrón-Pajares, Lourdes Galán-Ledesma, Silvia Modamio-Høybjør, José María Carbonell-Pérez
المصدر: European journal of medical genetics. 64(10)
مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, media_common.quotation_subject, Nonsense, Genu varum, Limb Deformities, Congenital, Scoliosis, Osteochondrodysplasias, Recessive inheritance, Bones of Lower Extremity, Genetics, medicine, Humans, Metaphyseal anadysplasia, Gait, Genetics (clinical), media_common, business.industry, General Medicine, medicine.disease, Spine, body regions, Phenotype, Matrix Metalloproteinase 9, Dysplasia, Codon, Nonsense, Radiological weapon, Child, Preschool, medicine.symptom, business, Metaphyseal abnormalities
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::176cc5537a4c276ae76405a1107de873Test
https://pubmed.ncbi.nlm.nih.gov/34407464Test -
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المؤلفون: Beatriz Olivia Camarena Gómez, Angel Carracedo, Beatriz Morte, María Palomares-Bralo, Patricia Arias, Carmen Ayuso, Marta Pacio-Míguez, Fernando Santos-Simarro, Jair Tenorio-Castaño, Alma Kuechler, Pedro Arias, Feliciano J. Ramos, Eduardo F Tizzano, Sergio Ramos, Fermina López-Grondona, Luis A. Pérez-Jurado, María Pilar Méndez Perez, Julián Nevado, Berta Almoguera, Francisco Barros, Enrique Galán-Gómez, Sixto García-Miñaur, Alba Alcochea, Irene Valenzuela, Victor Martinez-Glez, Frank J. Kaiser, Ivon Cuscó, I. Lorda-Sánchez, Juan Pié, Pablo Lapunzina, Juan Carrión
المساهمون: UAM. Departamento de Medicina, Institut Català de la Salut, [Tenorio-Castaño J] CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, 28029 Madrid, Spain. Overgrowth Syndromes Laboratory, INGEMM, Instituto de Genética Médica y Molecular, IdiPAZ, Hospital Universitario la Paz, Universidad Autónoma de Madrid (UAM), 28046 Madrid, Spain. The SIDE Consortium: Spanish Intellectual Disability Exome Consortium, 28046 Madrid, Spain. Ithaca, European Reference Network, Hospital Universitario La Paz, 28046 Madrid, Spain. [Morte B] CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, 28029 Madrid, Spain. The SIDE Consortium: Spanish Intellectual Disability Exome Consortium, 28046 Madrid, Spain. [Nevado J] CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, 28029 Madrid, Spain. The SIDE Consortium: Spanish Intellectual Disability Exome Consortium, 28046 Madrid, Spain. Ithaca, European Reference Network, Hospital Universitario La Paz, 28046 Madrid, Spain. Structural and Functional Genomics—INGEMM, Instituto de Genética Médica y Molecular, IdiPAZ, Hospital Universitario la Paz, Universidad Autónoma de Madrid (UAM), 28046 Madrid, Spain. [Martinez-Glez V] CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, 28029 Madrid, Spain. Ithaca, European Reference Network, Hospital Universitario La Paz, 28046 Madrid, Spain. Structural and Functional Genomics—INGEMM, Instituto de Genética Médica y Molecular, IdiPAZ, Hospital Universitario la Paz, Universidad Autónoma de Madrid (UAM), 28046 Madrid, Spain. Clinical Genetics—INGEMM, Instituto de Genética Médica y Molecular, IdiPAZ, Hospital Universitario la Paz, Universidad Autónoma de Madrid (UAM), 28046 Madrid, Spain. [Santos-Simarro F] CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, 28029 Madrid, Spain. The SIDE Consortium: Spanish Intellectual Disability Exome Consortium, 28046 Madrid, Spain. Ithaca, European Reference Network, Hospital Universitario La Paz, 28046 Madrid, Spain. Clinical Genetics—INGEMM, Instituto de Genética Médica y Molecular, IdiPAZ, Hospital Universitario la Paz, Universidad Autónoma de Madrid (UAM), 28046 Madrid, Spain. [García-Miñaúr S] CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, 28029 Madrid, Spain. Ithaca, European Reference Network, Hospital Universitario La Paz, 28046 Madrid, Spain. Clinical Genetics—INGEMM, Instituto de Genética Médica y Molecular, IdiPAZ, Hospital Universitario la Paz, Universidad Autónoma de Madrid (UAM), 28046 Madrid, Spain. [Valenzuela I, Tizzano E] Ithaca, European Reference Network, Hospital Universitario La Paz, 28046 Madrid, Spain. Àrea de Genètica Clínica i Molecular, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Grup de Genètica de la Medicina, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. [Cuscó I] Àrea de Genètica Clínica i Molecular, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Grup de Genètica de la Medicina, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus
المصدر: Genes, Vol 12, Iss 738, p 738 (2021)
Genes
Volume 12
Issue 5
Biblos-e Archivo. Repositorio Institucional de la UAM
Universitat Autònoma de Barcelona
Dipòsit Digital de Documents de la UAB
Scientiaمصطلحات موضوعية: 0301 basic medicine, Pediatrics, medicine.medical_specialty, PACS1 Gene, Medicina, Medizin, Intellectual disability, Disease, 030105 genetics & heredity, Pathogenic variant c.607C > T, QH426-470, phosphofurin acidic cluster sorting protein 1, pathogenic variant c.607C >, Trastorns neuroconductuals - Aspectes genètics, Very frequent, 03 medical and health sciences, Neurodevelopmental disorder, Other subheadings::Other subheadings::/genetics [Other subheadings], Genetics, Medicine, Craniofacial, education, rare disorders, PACS1, Genetics (clinical), education.field_of_study, business.industry, Otros calificadores::Otros calificadores::/genética [Otros calificadores], Deficiència mental - Aspectes genètics, trastornos mentales::trastornos del desarrollo neurológico [PSIQUIATRÍA Y PSICOLOGÍA], afecciones patológicas, signos y síntomas::signos y síntomas::manifestaciones neurológicas::manifestaciones neuroconductuales::discapacidad intelectual [ENFERMEDADES], Congenital malformations, Schuurs-Hoeijmakers syndrome, medicine.disease, pathogenic variant c.607C > T, 030104 developmental biology, intellectual disability, Phosphofurin acidic cluster sorting protein 1, Schuurs–Hoeijmakers syndrome, Rare disorders, Phospho-furin acidic cluster sorting protein 1, business, Mental Disorders::Neurodevelopmental Disorders [PSYCHIATRY AND PSYCHOLOGY], Pathological Conditions, Signs and Symptoms::Signs and Symptoms::Neurologic Manifestations::Neurobehavioral Manifestations::Intellectual Disability [DISEASES], Pathogenic variant c.607C > phosphofurin acidic cluster sorting protein 1
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::38bf6a6c2c7cd1876f586026d787166aTest
https://www.mdpi.com/2073-4425/12/5/738Test -
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المؤلفون: Jair, Tenorio-Castaño, Beatriz, Morte, Julián, Nevado, Víctor, Martinez-Glez, Fernando, Santos-Simarro, Sixto, García-Miñaúr, María, Palomares-Bralo, Marta, Pacio-Míguez, Beatriz, Gómez, Pedro, Arias, Alba, Alcochea, Juan, Carrión, Patricia, Arias, Berta, Almoguera, Fermina, López-Grondona, Isabel, Lorda-Sanchez, Enrique, Galán-Gómez, Irene, Valenzuela, María Pilar, Méndez Perez, Ivón, Cuscó, Francisco, Barros, Juan, Pié, Sergio, Ramos, Feliciano J, Ramos, Alma, Kuechler, Eduardo, Tizzano, Carmen, Ayuso, Frank J, Kaiser, Luis A, Pérez-Jurado, Ángel, Carracedo, The ENoD-Ciberer Consortium, The Side Consortium, Pablo, Lapunzina
المصدر: Genes
مصطلحات موضوعية: Male, Vesicular Transport Proteins, Syndrome, phosphofurin acidic cluster sorting protein 1, Article, pathogenic variant c.607C > T, Phenotype, PACS1, Neurodevelopmental Disorders, intellectual disability, Mutation, Schuurs–Hoeijmakers syndrome, Humans, Abnormalities, Multiple, Female, rare disorders
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::388c52eacdb431e17081e64cb0bde6d6Test
https://pubmed.ncbi.nlm.nih.gov/34068396Test -
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المؤلفون: Fátima Gimeno-Ferrer, Carola Guzmán Luján, Enrique Galán Gómez, Inés Quintela, Montserrat Aleu Pérez-Gramunt, David Albuquerque, Raquel Rodríguez-López, Virginia Ballesteros Cogollos, Cristina Torreira Banzas, Goitzane Marcaida Benito, Alfredo Repáraz-Andrade
المصدر: Journal of human genetics. 64(3)
مصطلحات موضوعية: 0301 basic medicine, Male, Candidate gene, Microarray, Adolescent, DNA Copy Number Variations, 030105 genetics & heredity, Overweight, Bioinformatics, Body Mass Index, Cohort Studies, 03 medical and health sciences, SH2B1, Intellectual Disability, Intellectual disability, Gene duplication, Genetics, medicine, Humans, Copy-number variation, Obesity, Child, Genetics (clinical), Adaptor Proteins, Signal Transducing, business.industry, Body Weight, Nuclear Proteins, medicine.disease, 030104 developmental biology, Phenotype, Female, medicine.symptom, Chromosome Deletion, business, Body mass index, Chromosomes, Human, Pair 16
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::14fd26a5afcc3e4af0ab4cd4d9853539Test
https://pubmed.ncbi.nlm.nih.gov/30518945Test -
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المؤلفون: Salud Borrego, Ramón Núñez-Núñez, Raquel Núñez-Ramos, Raquel M. Fernández, Jesús Ruiz-Contreras, Miguel González-Velasco, Enrique Galán-Gómez
المصدر: Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society. 20(1)
مصطلحات موضوعية: Genetic Markers, Male, medicine.medical_specialty, Scoring system, Adolescent, Disease, RET proto-oncogene, Proto-Oncogene Mas, Sensitivity and Specificity, Severity of Illness Index, Pathology and Forensic Medicine, Correlation, Stoma, 03 medical and health sciences, 0302 clinical medicine, Molecular genetics, Internal medicine, medicine, Humans, Hirschsprung Disease, Child, Genetic Association Studies, Retrospective Studies, Enterocolitis, business.industry, Infant, Newborn, Infant, Retrospective cohort study, General Medicine, Surgery, Logistic Models, 030220 oncology & carcinogenesis, Child, Preschool, Pediatrics, Perinatology and Child Health, Mutation, 030211 gastroenterology & hepatology, Female, medicine.symptom, business, Follow-Up Studies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::764147ce3c50a8c21a65bc9998e85dacTest
https://pubmed.ncbi.nlm.nih.gov/28276298Test -
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المؤلفون: Felipe Casanueva Freijo, Francisco Barros Angueira, Aránzazu Margallo Balsera, Guillermo Gervasini Rodríguez, Raquel Rodríguez-López, Enrique Galán Gómez, José M. Carbonell Pérez, Mayte García de Cáceres, Pilar Mendez Perez, Marta González-Carpio Serrano, Juan Ramón González Ruiz, Manuela Núñez Estévez, Trinidad Herrera Moreno
المصدر: Gene. 516:285-290
مصطلحات موضوعية: Adult, Male, Karyotype, WAGR syndrome, Single-nucleotide polymorphism, Biology, Polymorphism, Single Nucleotide, Body Mass Index, Young Adult, Exon, WAGR Syndrome, Genotype, Genetics, medicine, Humans, Obesity, Aged, Aged, 80 and over, Genes, Modifier, Brain-Derived Neurotrophic Factor, General Medicine, Middle Aged, medicine.disease, Phenotype, Aniridia, Case-Control Studies, Child, Preschool, Female, PAX6, Haploinsufficiency
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f8fceb5287acfa00b5b50070c1262061Test
https://doi.org/10.1016/j.gene.2012.11.073Test -
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المصدر: Medicina Clínica (English Edition). 149:39-40
مصطلحات موضوعية: 0301 basic medicine, Pediatrics, medicine.medical_specialty, business.industry, MEDLINE, Turner Syndrome, medicine.disease, 03 medical and health sciences, 030104 developmental biology, Turner syndrome, medicine, Humans, Female, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fe8563f088eb0cc787b2d4d57b1bd149Test
https://doi.org/10.1016/j.medcle.2017.06.007Test -
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المصدر: Medicina Clínica. 149:39-40
مصطلحات موضوعية: Gynecology, 03 medical and health sciences, medicine.medical_specialty, 0302 clinical medicine, business.industry, 030225 pediatrics, 030232 urology & nephrology, Medicine, General Medicine, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::c6aabbca1c95b2d02cdcb07e32105bb8Test
https://doi.org/10.1016/j.medcli.2017.02.016Test -
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المؤلفون: María-Luisa Moreno-Tejero, Julián Vaquerizo-Madrid, Ana Guerrero-Rico, Juan J. Cardesa-García, Ana-María Grande-Tejada, Cristina Cáceres-Marzal, Moises Zambrano-Castaño, Enrique Galán-Gómez, Santiago Fernández-Hernández
المصدر: European Journal of Medical Genetics. 51:268-271
مصطلحات موضوعية: medicine.medical_specialty, Creatinine, Coarse facial features, Idursulfase, business.industry, Hunter syndrome, General Medicine, Enzyme replacement therapy, medicine.disease, Gastroenterology, Excretion, chemistry.chemical_compound, Endocrinology, chemistry, Hypospadias, Internal medicine, Genetics, medicine, Bronchitis, business, Genetics (clinical), medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::a71680c0fe86301a8932462433098593Test
https://doi.org/10.1016/j.ejmg.2008.02.005Test