المؤلفون: Patricia Pascual, Jair Tenorio-Castano, Cyril Mignot, Alexandra Afenjar, Pedro Arias, Natalia Gallego-Zazo, Alejandro Parra, Lucia Miranda, Mario Cazalla, Cristina Silván, Delphine Heron, Boris Keren, Ioana Popa, María Palomares, Emi Rikeros, Feliciano J. Ramos, Berta Almoguera, Carmen Ayuso, Saoud Tahsin Swafiri, Ana Isabel Sánchez Barbero, Varunvenkat M. Srinivasan, Vykuntaraju K. Gowda, Manuela Morleo, Vicenzo Nigro, Stefano D’Arrigo, Claudia Ciaccio, Carmen Martin Mesa, Beatriz Paumard, Gema Guillen, Ana Teresa Serrano Anton, Marta Domínguez Jimenez, Veronica Seidel, Julia Suárez, Valerie Cormier-Daire, The SOGRI Consortium, Julián Nevado, Pablo Lapunzina

المصدر: Genes, Vol 14, Iss 9, p 1664 (2023)

مصطلحات موضوعية: CHD3, Snijders Blok–Campeau syndrome, overgrowth, neurodevelopmental disorders, SNIBCPS, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2073-4425/14/9/1664; https://doaj.org/toc/2073-4425

URL الوصول: https://doaj.org/article/ed785606f81a4f49a60d1afaeac57fc8

المؤلفون: Lucia Inglada Pérez, Francisco Zambrana, María José Juan Fita, Cristina López, S. Ros, Alicia Barroso, Ana María Autran, Isabel Lorenzo‐Lorenzo, Guillermo Pita, Ignacio Duran, Xavier Garcia del Muro, Fatima Al-Shahrour, Javier Benitez, Vanesa Quiroga, Enrique González Billalabeitia, Javier Sastre, Miguel Urioste, Héctor Tejero, Juan Moreno, Antonio Fernández Aramburo, Claudia Valverde, Juan Carlos Triviño, Patricia Iranzo, Beatriz Paumard-Hernández, Pablo Maroto, Oriol Calvete

المصدر: International Journal of Cancer

مصطلحات موضوعية: Adult, Exonucleases, Male, 0301 basic medicine, Cancer Research, Heredity, Adolescent, Testicular Germ Cell Tumor, Susceptibility gene, Disease, Biology, Logistic regression, whole exome sequencing, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Testicular Neoplasms, Risk Factors, Exome Sequencing, medicine, Humans, Exome, Genetic Predisposition to Disease, Child, Exome sequencing, Testicular cancer, Aged, Genetics, susceptibility risk variants, Infant, Axonemal Dyneins, Middle Aged, medicine.disease, Pedigree, 3. Good health, 030104 developmental biology, Oncology, Case-Control Studies, Child, Preschool, 030220 oncology & carcinogenesis, testicular germ cell tumor, Plectin, Female, Age of onset

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e30bdfc64c6784332c155f07d6c071b
https://doi.org/10.1002/ijc.31604

المؤلفون: Alan Fryer, Rolph Pfundt, Lori A. Carpenter, Susan M. White, Kirsten P. Forbes, Daniela T. Pilz, Nava Shaul-Lotan, Andrew E. Fry, Anthonie J. van Essen, Amy E. Roberts, A. Micheil Innes, Katherine A. Fawcett, Beatriz Paumard-Hernández, Michael Wright, Peter D. Turnpenny, Blanca Gener, Richard Caswell, Lindsay B. Henderson, Romana Gjergja-Juraski, Melissa Sloman, Wendy K. Chung, Karen E. Heath, G. Bradley Schaefer, Heather M. McLaughlin, Erica H. Gerkes

المصدر: American Journal of Human Genetics, 103(5), 786-793. CELL PRESS
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
American Journal of Human Genetics, 103, 786-793
American Journal of Human Genetics, 103, 5, pp. 786-793

مصطلحات موضوعية: 0301 basic medicine, EXPRESSION, PCGF2, Polycomb Group Ring Finger 2, MEL-18, Mutant, dysmorphism, PROTEIN, 03 medical and health sciences, All institutes and research themes of the Radboud University Medical Center, 0302 clinical medicine, Report, Histone H2A, Genetics, Gene silencing, Missense mutation, polymicrogyria, Craniofacial, SPECIFICATION, Gene, MEL18, intellectual disability, Genetics (clinical), CYCLIN D2, UBIQUITYLATION, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], biology, REPRESSION, Correction, Phenotype, GENE, 030104 developmental biology, Histone, 030220 oncology & carcinogenesis, biology.protein, HISTONE H2A, STEM-CELLS

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b42653bf0678df6d6b3a18f4c5e210bd
https://hdl.handle.net/2066/197694

المؤلفون: Jimena Barraza-García, Karen E. Heath, Beatriz Paumard-Hernández, Carlos I. Rivera-Pedroza, Julián Nevado, J. Pozo, Carlos Orbea-Gallardo

المصدر: Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid

مصطلحات موضوعية: 0301 basic medicine, Heart malformation, business.industry, Cloverleaf skull, Chromosome 1, Chromosome, Anatomy, 030105 genetics & heredity, medicine.disease, Craniosynostosis, Deletion, 03 medical and health sciences, Retrognathia, Chromosomal region, Genetics, medicine, Original Article, Haploinsufficiency, business, Genetics (clinical), Cutis laxa

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c0b679f63a0a4e03fc1aa8efbb0c9c25
https://doi.org/10.1159/000452609

المؤلفون: Paloma Martin-Gimeno, Beatriz Paumard-Hernández, Oriol Calvete, Javier Benitez

المصدر: Cancer Research. 80:5446-5446

مصطلحات موضوعية: Oncology, Cancer Research, medicine.medical_specialty, Mixed tumor, endocrine system diseases, business.industry, Somatic cell, Testicular Germ Cell Tumor, Cancer, Seminoma, urologic and male genital diseases, medicine.disease, Germline, Internal medicine, medicine, business, Testicular cancer, Exome sequencing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::e5545e74a70c310f047ae8d1002b5091
https://doi.org/10.1158/1538-7445.am2020-5446

المؤلفون: Héctor Tejero, Beatriz Paumard-Hernández, C.C Gonzalez-Enguita, P. Martin-Gimeno, Javier Benitez, Juan Carlos Triviño, L. Inglada-Pérez, AM Autran Gomez, Guillermo Pita, Miguel Urioste, Alicia Barroso, C.O. Oriol, M. Garranzo-Ibarrola, Fatima Al-Shahrour

المصدر: European Urology Open Science, Vol 19, Iss, Pp e2211-(2020)

مصطلحات موضوعية: Oncology, medicine.medical_specialty, business.industry, Urology, lcsh:Diseases of the genitourinary system. Urology, lcsh:RC870-923, lcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogens, medicine.disease, lcsh:RC254-282, Internal medicine, Cohort, Genetic predisposition, medicine, business, Testicular cancer

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed4dafe4a78a97226f5f9fd4aa49090c
https://doi.org/10.1016/s2666-1683(20)34097-0

المؤلفون: Oriol Calvete, Paula Martinez, Pablo Garcia-Pavia, Carlos Benitez-Buelga, Beatriz Paumard-Hernández, Victoria Fernandez, Fernando Dominguez, Clara Salas, Nuria Romero-Laorden, Jesus Garcia-Do

المصدر: Nature, Nature Communications. 6(1):1-12

الإتاحة: https://ideas.repec.org/a/nat/natcom/v6y2015i1d10.1038_ncomms9383.html

المؤلفون: Barbara Rivera, Tierry Frebourg, Manel Esteller, Juan Carlos Triviño, Beatriz Paumard-Hernández, Jesús García-Donas, Nuria Romero-Laorden, Javier Benitez, Luis Alonso-Pulpón, Raquel Andrés, Gaëlle Bougeard, Paula Martinez, Oriol Calvete, Fernando Domínguez, Fernando Setien, Miguel Urioste, Rosario Perona, Juana María Cano, Carlos Benitez-Buelga, Victoria Fernández, Sandra Rodriguez-Perales, Maria A. Blasco, Pablo García-Pavía, Clara Salas, Jaime Carrillo

المساهمون: European Research Council, Centro de Investigación Biomédica en Red Enfermedades Raras (España), Ministerio de Ciencia e Innovación (España), Instituto de Salud Carlos III, Ministerio de Sanidad, Servicios Sociales e Igualdad (España), University of California, Rockefeller University, European Commission, Fundación Lilly, Fundación Botín, Körber Foundation, Universitat de Barcelona, Département des Arts graphiques, Musée du Louvre, Paris, France, Departamento de Biología Molecular y Celular del Cáncer (CSIC-UAM), Instituto de Investigaciones Biomédicas A. Sols, Medical Oncology Division, Hospital Clínico de Zaragoza, Cancer Epigenetics Laboratory, Spanish National Cancer Research Center (CNIO), Génétique du cancer et des maladies neuropsychiatriques (GMFC), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Group of Human Genetics, UAM. Departamento de Medicina, Unión Europea. Fondo Europeo de Desarrollo Regional (FEDER/ERDF), Centro de Investigación Biomedica en Red - CIBER, Unión Europea. Comisión Europea, Korber Foundation, Botín Foundation, ICREA

المصدر: Recercat. Dipósit de la Recerca de Catalunya
instname
Nature Communications
Nature Communications, Nature Publishing Group, 2015, 6 (1), ⟨10.1038/ncomms9383⟩
Digital.CSIC. Repositorio Institucional del CSIC
Repisalud
Instituto de Salud Carlos III (ISCIII)
Biblos-e Archivo. Repositorio Institucional de la UAM
Dipòsit Digital de la UB
Universidad de Barcelona
Zaguán. Repositorio Digital de la Universidad de Zaragoza

مصطلحات موضوعية: Male, PREDICTION, health care facilities, manpower, and services, General Physics and Astronomy, PROTEIN, VARIANTS, Shelterin Complex, Heart Neoplasms, Li-Fraumeni Syndrome, 0302 clinical medicine, Missense mutation, PROTECTION, In Situ Hybridization, Fluorescence, ComputingMilieux_MISCELLANEOUS, health care economics and organizations, Telomere-binding protein, Genetics, 0303 health sciences, Multidisciplinary, Telòmer, Cardiac angiosarcoma, Tumors de parts toves, Reverse Transcriptase Polymerase Chain Reaction, Middle Aged, Telomere, humanities, 3. Good health, Telomeres, 030220 oncology & carcinogenesis, Mutation (genetic algorithm), Female, Epigenetics, EXPRESSION, Adult, Chromatin Immunoprecipitation, Medicina, In silico, Blotting, Western, Hemangiosarcoma, Telomere-Binding Proteins, education, Mutation, Missense, Breast Neoplasms, Biology, QUANTITATIVE PCR, In Vitro Techniques, Real-Time Polymerase Chain Reaction, General Biochemistry, Genetics and Molecular Biology, Article, 03 medical and health sciences, Soft tissue tumors, medicine, Humans, PREDISPOSE, Computer Simulation, Allele, Gene, 030304 developmental biology, Aged, Mutació (Biologia), General Chemistry, Mutation (Biology), medicine.disease, Epigenètica, High-Throughput Screening Assays, Mutation in a breast, MAINTENANCE, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Li–Fraumeni syndrome, TELOMERE LENGTH, Tumor Suppressor Protein p53, REQUIREMENTS

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87b789b73905513f1feea9e695dd9f1a
http://hdl.handle.net/10261/124597

المؤلفون: Siddharth Banka, Oriol Calvete, Victoria Fernández, Marta Cañamero, Javier Benitez, Luis Bujanda, Jose Reyes, María Rodríguez-Pinilla, José Palacios, William G. Newman, Beatriz Paumard-Hernández, Damian Heine-Suñer, D. Mark Pritchard, S. Zuñiga

المصدر: Human molecular genetics. 24(10)

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Adolescent, Atrophic gastritis, Mutation, Missense, Biology, Adenocarcinoma, Achlorhydria, H(+)-K(+)-Exchanging ATPase, Young Adult, Stomach Neoplasms, Internal medicine, Genetics, medicine, Humans, Exome, Genetic Predisposition to Disease, Enterochromaffin-like cell, Molecular Biology, Genetics (clinical), Exome sequencing, Gastrin, Aged, Stomach, digestive, oral, and skin physiology, General Medicine, Sequence Analysis, DNA, Middle Aged, medicine.disease, Pedigree, Neuroendocrine Tumors, medicine.anatomical_structure, Endocrinology, Cancer research, Gastric acid, Female

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::373c070d0530a25971b0b3e1286a5c01
https://pubmed.ncbi.nlm.nih.gov/25678551

المؤلفون: Juliana María Ballesta-Martínez, Sixto García-Miñaur, Encarna Guillén-Navarro, Angel Campos-Barros, Julia Berges-Soria, Beatriz Paumard-Hernández, Fernando Santos, A. Romance, Karen E. Heath, Pablo Lapunzina, Sara Benito-Sanz, Ignacio García-Recuero, Jaime Cruz, Vanesa López-González, J. Pozo, Virginia Pérez-Carrizosa, Eva Barroso, Eva López-Messa, Carlos I. Rivera-Pedroza

المصدر: Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid

مصطلحات موضوعية: Proband, Male, Pediatrics, medicine.medical_specialty, Genetic counseling, DNA Mutational Analysis, Ephrin-B1, Sensitivity and Specificity, Article, Craniosynostosis, Cohort Studies, Craniosynostoses, Gene duplication, Genetics, medicine, Basic Helix-Loop-Helix Transcription Factors, Humans, Receptor, Fibroblast Growth Factor, Type 3, Genetic Predisposition to Disease, Genetic Testing, Receptor, Fibroblast Growth Factor, Type 1, Receptor, Fibroblast Growth Factor, Type 2, Genetics (clinical), Family Health, business.industry, Twist-Related Protein 1, Nuclear Proteins, Reproducibility of Results, medicine.disease, Craniosynostosis Philadelphia type, Pedigree, medicine.anatomical_structure, HEK293 Cells, Spain, Mutation (genetic algorithm), Mutation, Female, Coronal suture, business, Cohort study

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3801fba5cc7cdaedc04f9b86d5c1d45b
https://europepmc.org/articles/PMC4463497/