المؤلفون: Matteo Floris, Antonino Moschella, Myriam Alcalay, Annalaura Montella, Matilde Tirelli, Laura Fontana, Maria Laura Idda, Pharmacogenomics Working Group of the Italian Society of Human Genetics (SIGU), Paolo Guarnieri, Mario Capasso, Corrado Mammì, Paola Nicoletti, Monica Miozzo

المصدر: Human Genomics, Vol 18, Iss 1, Pp 1-13 (2024)

مصطلحات موضوعية: Pharmacogenetics, Pharmacogenomics, Germline testing, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1479-7364

URL الوصول: https://doaj.org/article/ee98d4d6ede14313a133bbdf3fbf6f01

المؤلفون: Benedetta Perrone, Paola Ruffo, Giuseppina Augimeri, Diego Sisci, Maria Stefania Sinicropi, Giovanni Tripepi, Corrado Mammì, Daniela Bonofiglio, Francesca Luisa Conforti

المصدر: Journal of Translational Medicine, Vol 21, Iss 1, Pp 1-9 (2023)

مصطلحات موضوعية: Health, SNP, Lipid profile, Inflammation, Metabolic parameters, Statin, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1479-5876

URL الوصول: https://doaj.org/article/49616ccee5af4b4481a9eb3520173b00

المؤلفون: Marina Macchiaiolo, Filippo M. Panfili, Davide Vecchio, Michaela V. Gonfiantini, Fabiana Cortellessa, Cristina Caciolo, Marcella Zollino, Maria Accadia, Marco Seri, Marcello Chinali, Corrado Mammì, Marco Tartaglia, Andrea Bartuli, Paolo Alfieri, Manuela Priolo

المصدر: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-16 (2022)

مصطلحات موضوعية: Malan syndrome, Sotos syndrome 2, NFIX, Deep phenotyping, Overgrowth, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/771316b8f0a6460199ddcc00cf6d0b98

المؤلفون: Benedetta Perrone, Paola Ruffo, Samanta Zelasco, Cinzia Giordano, Catia Morelli, Ines Barone, Stefania Catalano, Sebastiano Andò, Diego Sisci, Giovanni Tripepi, Corrado Mammì, Daniela Bonofiglio, Francesca Luisa Conforti

المصدر: Journal of Translational Medicine, Vol 20, Iss 1, Pp 1-12 (2022)

مصطلحات موضوعية: Health, SNP, LDL, Lipids, Anthropometric parameters, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1479-5876

URL الوصول: https://doaj.org/article/b64efbc1a91d4b9e876c20db8ff21061

المؤلفون: Esther Natalie Oliva, Anna Candoni, Prassede Salutari, Giuseppe A. Palumbo, Gianluigi Reda, Giuseppe Iannì, Giovanni Tripepi, Maria Cuzzola, Debora Capelli, Corrado Mammì, Caterina Alati, Maria Concetta Cannatà, Pasquale Niscola, Bianca Serio, Pellegrino Musto, Ernesto Vigna, Antonio Volpe, Lorella Maria Antonia Melillo, Maria Teresa Arcadi, Donato Mannina, Maria Elena Zannier, Roberto Latagliata

المصدر: Cancers; Volume 15; Issue 9; Pages: 2441

مصطلحات موضوعية: acute myeloid leukemia, elderly, post-remission therapy, azacitidine

وصف الملف: application/pdf

Relation: Cancer Therapy; https://dx.doi.org/10.3390/cancers15092441

الاتاحة: https://doi.org/10.3390/cancers15092441

المؤلفون: Marco Ferilli, Andrea Ciolfi, Lucia Pedace, Marcello Niceta, Francesca Clementina Radio, Simone Pizzi, Evelina Miele, Camilla Cappelletti, Cecilia Mancini, Tiziana Galluccio, Marco Andreani, Maria Iascone, Luigi Chiriatti, Antonio Novelli, Alessia Micalizzi, Marta Matraxia, Lucia Menale, Flavio Faletra, Paolo Prontera, Alba Pilotta, Maria Francesca Bedeschi, Rossella Capolino, Anwar Baban, Marco Seri, Corrado Mammì, Giuseppe Zampino, Maria Cristina Digilio, Bruno Dallapiccola, Manuela Priolo, Marco Tartaglia

المصدر: Genes; Volume 13; Issue 11; Pages: 2163

مصطلحات موضوعية: DNA methylation, overgrowth, NSD1, Sotos syndrome, genomic variant classification, VoUS validation, differential diagnosis

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes13112163

الاتاحة: https://doi.org/10.3390/genes13112163

المؤلفون: Paolo Alfieri, Marina Macchiaiolo, Martina Collotta, Federica Alice Maria Montanaro, Cristina Caciolo, Francesca Cumbo, Paolo Galassi, Filippo Maria Panfili, Fabiana Cortellessa, Marcella Zollino, Maria Accadia, Marco Seri, Marco Tartaglia, Andrea Bartuli, Corrado Mammì, Stefano Vicari, Manuela Priolo

المصدر: Journal of Clinical Medicine; Volume 11; Issue 14; Pages: 4078

مصطلحات موضوعية: Malan Syndrome, NFIX variants, adaptive behavior, cognition, sensory processing, intellectual disability

وصف الملف: application/pdf

Relation: Clinical Neurology; https://dx.doi.org/10.3390/jcm11144078

الاتاحة: https://doi.org/10.3390/jcm11144078

المؤلفون: Manuela Priolo, Cecilia Mancini, Simone Pizzi, Luigi Chiriatti, Francesca Clementina Radio, Viviana Cordeddu, Letizia Pintomalli, Corrado Mammì, Bruno Dallapiccola, Marco Tartaglia

المصدر: Genes; Volume 13; Issue 5; Pages: 889

مصطلحات موضوعية: HAFOUS, USP7, cystic fibrosis, CFTR, PKD2, dual molecular diagnosis, WES

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes13050889

الاتاحة: https://doi.org/10.3390/genes13050889

المؤلفون: Manuela Priolo, Francesca Radio, Simone Pizzi, Letizia Pintomalli, Francesca Pantaleoni, Cecilia Mancini, Viviana Cordeddu, Emilio Africa, Corrado Mammì, Bruno Dallapiccola, Marco Tartaglia

المصدر: Genes; Volume 12; Issue 7; Pages: 1009

مصطلحات موضوعية: IDDSADF, CNOT3, facial features profiling, SMAD6, aortic coarctation, bicuspid aortic valve, dual molecular diagnosis, exome sequencing

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes12071009

الاتاحة: https://doi.org/10.3390/genes12071009

المؤلفون: Manuela Priolo, Erika Zara, Francesca Clementina Radio, Andrea Ciolfi, Francesca Spadaro, Emanuele Bellacchio, Cecilia Mancini, Francesca Pantaleoni, Viviana Cordeddu, Luigi Chiriatti, Marcello Niceta, Emilio Africa, Corrado Mammì, Daniela Melis, Simona Coppola, Marco Tartaglia

المصدر: European Journal of Human Genetics.

مصطلحات موضوعية: Genetics, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e5a2c85f1300d9d4b9d7d3f15a003d4d
https://doi.org/10.1038/s41431-023-01351-7

المؤلفون: Paolo Alfieri, Federica Alice Maria Montanaro, Marina Macchiaiolo, Martina Collotta, Cristina Caciolo, Paolo Galassi, Filippo Maria Panfili, Fabiana Cortellessa, Marcella Zollino, Marcello Chinali, Maria Accadia, Marco Seri, Andrea Bartuli, Corrado Mammì, Marco Tartaglia, Stefano Vicari, Manuela Priolo

المصدر: Frontiers in Child and Adolescent Psychiatry. 2

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::c3d0816bbcbf10fbc6f92d274de26129
https://doi.org/10.3389/frcha.2023.1106228

المؤلفون: Paolo Alfieri, Federica Alice Maria Montanaro, Marina Macchiaiolo, Martina Collotta, Cristina Caciolo, Paolo Galassi, Filippo Maria Panfili, Fabiana Cortellessa, Marcella Zollino, Marcello Chinali, Maria Accadia, Marco Seri, Andrea Bartuli, Corrado Mammì, Marco Tartaglia, Stefano Vicari, Manuela Priolo

مصطلحات موضوعية: Clinical Psychology, Psychiatry (incl. Psychotherapy), Paediatrics, Developmental Psychology and Ageing, Psychology not elsewhere classified, malan syndrome, NFIX variants, neurobehavioral, rare genetic syndromes, intellectual disability, psychopathology, phenotype, genotype

Relation: https://figshare.com/articles/dataset/Table2_Behavioral_profiling_in_children_and_adolescents_with_Malan_syndrome_docx/22220377

الاتاحة: https://doi.org/10.3389/frcha.2023.1106228.s001
https://figshare.com/articles/dataset/Table2_Behavioral_profiling_in_children_and_adolescents_with_Malan_syndrome_docx/22220377

المؤلفون: Manuela Priolo, Valentina Palermo, Francesca Aiello, Andrea Ciolfi, Luca Pannone, Valentina Muto, Marialetizia Motta, Cecilia Mancini, Francesca Clementina Radio, Marcello Niceta, Chiara Leoni, Letizia Pintomalli, Rosalba Carrozzo, Giuseppe Rajola, Corrado Mammì, Giuseppe Zampino, Simone Martinelli, Bruno Dallapiccola, Pietro Pichierri, Marco Tartaglia

المصدر: Clinical geneticsREFERENCES. 102(1)

مصطلحات موضوعية: Phenotype, Gain of Function Mutation, Mutation, Noonan Syndrome, Genetics, Humans, Protein Tyrosine Phosphatase, Non-Receptor Type 11, Werner Syndrome, Child, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd7406eb8f5fd2ea9fb76db31d9bdfcc
https://pubmed.ncbi.nlm.nih.gov/35396703

المؤلفون: Riccardo Bonfanti, Dario Iafusco, Ivana Rabbone, Giacomo Diedenhofen, Carla Bizzarri, Patrizia Ippolita Patera, Petra Reistadler, Francesco Costantino, Valeria Calcaterra, Lorenzo Iughetti, Silvia Savastio, Anna Favia, Francesca Cardella, Donatella Lopresti, Ylenia Girtler, Sarah Rabbiosi, Giuseppe D'Annunzio, Angela Zanfardino, Alessia Piscopo, Francesca Casaburo, Letizia Pintomalli, Lucia Russo, Valeria Grasso, Nicola Minuto, Mafalda Mucciolo, Antonio Novelli, Antonella Marucci, Barbara Piccini, Sonia Toni, Francesca Silvestri, Paola Carrera, Andrea Rigamonti, Giulio Frontino, Michela Trada, Davide Tinti, Maurizio Delvecchio, Novella Rapini, Riccardo Schiaffini, Corrado Mammì, Fabrizio Barbetti

المساهمون: Bonfanti, Riccardo, Iafusco, Dario, Rabbone, Ivana, Diedenhofen, Giacomo, Bizzarri, Carla, Ippolita Patera, Patrizia, Reistadler, Petra, Costantino, Francesco, Calcaterra, Valeria, Iughetti, Lorenzo, Savastio, Silvia, Favia, Anna, Cardella, Francesca, Lopresti, Donatella, Girtler, Ylenia, Rabbiosi, Sarah, D'Annunzio, Giuseppe, Zanfardino, Angela, Piscopo, Alessia, Casaburo, Francesca, Pintomalli, Letizia, Russo, Lucia, Grasso, Valeria, Minuto, Nicola, Mucciolo, Mafalda, Novelli, Antonio, Marucci, Antonella, Piccini, Barbara, Toni, Sonia, Silvestri, Francesca, Carrera, Paola, Rigamonti, Andrea, Frontino, Giulio, Trada, Michela, Tinti, Davide, Delvecchio, Maurizio, Rapini, Novella, Schiaffini, Riccardo, Mammì, Corrado, Barbetti, Fabrizio

مصطلحات موضوعية: Endocrine pancreas, Transient Neonatal Diabetes Mellitus, 6q24 TNDM, KATP TNDM, Sulfonylureas

Relation: journal:EUROPEAN JOURNAL OF ENDOCRINOLOGY; http://hdl.handle.net/11573/1502275; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85103228960

الاتاحة: http://hdl.handle.net/11573/1502275

المؤلفون: Ann Sophie Kaiser, Fowzan S. Alkuraya, Trevor Cole, Paul A. Mulder, Pablo Lapunzina, Inge B. Mathijssen, Jan Liebelt, Claire G. Salter, Pierre Sarda, Jill A. Fahrner, Manuela Priolo, Dorothee Neubauer, Nursel Elcioglu, Denny Schanze, Katrin Tatton-Brown, Sarah F. Smithson, Jair Tenorio, Thomas E. Neumann, Charles Shaw-Smith, Letizia Pintomalli, Shane McKee, Emilia K. Bijlsma, Sally J. Davies, Sue Price, Rajesh V. Thakker, Noelia García González, Rita Valdez, Sally Ann Lynch, Nataliya Di Donato, Arie van Haeringen, Astrid S. Plomp, Inés Hernández Acero, Ilka Huber, Marcela Zollino, Laura Bernardini, Raoul C.M. Hennekam, Martin Zenker, Mohnish Suri, Mabel Segovia, Johanna M. van Hagen, Ghayda Mirzaa, Leonie A. Menke, Kreepa Kooblall, Arveen Kamath, Christine Coubes, I. Dapia, Corrado Mammì, Alison Foster, Tara Montgomery, Pedro Arias, Fernando Santos-Simarro, Maria Iascone, Maria Antonietta Pisanti, Saskia M. Maas

المساهمون: ANS - Cellular & Molecular Mechanisms, Graduate School, ARD - Amsterdam Reproduction and Development, Human Genetics, Paediatric Genetics, General Paediatrics, APH - Quality of Care, Amsterdam Reproduction & Development (AR&D), Human genetics, Pediatric surgery

المصدر: Human Mutation
Human mutation, 39(9), 1226-1237. Wiley-Liss Inc.
Human Mutation, 39(9), 1226-1237
Priolo, M, Schanze, D, Tatton-Brown, K, Mulder, P A, Tenorio, J, Kooblall, K, Acero, I H, Alkuraya, F S, Arias, P, Bernardini, L, Bijlsma, E K, Cole, T, Coubes, C, Dapia, I, Davies, S, Di Donato, N, Elcioglu, N H, Fahrner, J A, Foster, A, González, N G, Huber, I, Iascone, M, Kaiser, A S, Kamath, A, Liebelt, J, Lynch, S A, Maas, S M, Mammì, C, Mathijssen, I B, McKee, S, Menke, L A, Mirzaa, G M, Montgomery, T, Neubauer, D, Neumann, T E, Pintomalli, L, Pisanti, M A, Plomp, A S, Price, S, Salter, C, Santos-Simarro, F, Sarda, P, Segovia, M, Shaw-Smith, C, Smithson, S, Suri, M, Valdez, R M, Van Haeringen, A, Van Hagen, J M, Zollino, M, Lapunzina, P, Thakker, R V, Zenker, M & Hennekam, R C 2018, ' Further delineation of Malan syndrome ', Human Mutation, vol. 39, no. 9, pp. 1226-1237 . https://doi.org/10.1002/humu.23563
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Priolo, M, Schanze, D, Tatton-Brown, K, Mulder, P A, Tenorio, J, Kooblall, K, Acero, I H, Alkuraya, F S, Arias, P, Bernardini, L, Bijlsma, E K, Cole, T, Coubes, C, Dapia, I, Davies, S, di Donato, N, Elcioglu, N H, Fahrner, J A, Foster, A, González, N G, Huber, I, Iascone, M, Kaiser, A-S, Kamath, A, Liebelt, J, Lynch, S A, Maas, S M, Mammì, C, Mathijssen, I B, McKee, S, Menke, L A, Mirzaa, G M, Montgomery, T, Neubauer, D, Neumann, T E, Pintomalli, L, Pisanti, M A, Plomp, A S, Price, S, Salter, C, Santos-Simarro, F, Sarda, P, Segovia, M, Shaw-Smith, C, Smithson, S, Suri, M, Valdez, R M, van Haeringen, A, van Hagen, J M, Zollino, M, Lapunzina, P, Thakker, R V, Zenker, M & Hennekam, R C 2018, ' Further delineation of Malan syndrome ', Human Mutation, vol. 39, no. 9, pp. 1226-1237 . https://doi.org/10.1002/humu.23563
Human Mutation, 39(9), 1226-1237. Wiley-Liss Inc.

مصطلحات موضوعية: 0301 basic medicine, Male, Pediatrics, Developmental Disabilities, phenotype-genotype, Craniofacial Abnormalities, Epilepsy, Marshall–Smith syndrome, Septo-Optic Dysplasia, Intellectual disability, Child, Genetics (clinical), Research Articles, biology, Sotos syndrome, Exons, NFIX, Child, Preschool, Female, medicine.symptom, Chromosome Deletion, Hand Deformities, Congenital, Research Article, Adult, medicine.medical_specialty, Prominent forehead, phenotype‐genotype, Adolescent, phenotype, Mutation, Missense, 03 medical and health sciences, Young Adult, Intellectual Disability, Genetics, medicine, Congenital Hypothyroidism, Humans, Abnormalities, Multiple, Malan syndrome, Weaver syndrome, Bone Diseases, Developmental, Macrocephaly, medicine.disease, Marshall-Smith syndrome, Megalencephaly, NFI Transcription Factors, 030104 developmental biology, Marshall‐Smith syndrome, biology.protein

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e8c7db7dc828e88348f7ed242503f89
http://europepmc.org/articles/PMC6175110

المؤلفون: Massimo Martino, Angela Violi, Stefania Ciolli, Corrado Mammì, Bruno Martino, Irene Bova, Antonio Scopelliti, Jolanda Donatella Vincelli, Maria Grazia D'Errigo, B Oliva, Cristina Garreffa

المصدر: Blood. 138:4735-4735

مصطلحات موضوعية: Oncology, medicine.medical_specialty, business.industry, Immunology, Cytogenetics, Cell Biology, Hematology, medicine.disease, Biochemistry, Biological significance, Internal medicine, medicine, business, Value (mathematics), Multiple myeloma

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::df8c09de127e5554ff2cb7af27df826e
https://doi.org/10.1182/blood-2021-150620

المؤلفون: Austin G. Kulasekararaj, Seishi Ogawa, Maria Cuzzola, Maria Concetta Cannatà, Isabella Capodanno, Roberto Latagliata, Sabrina Greve, Marta Riva, Gina Zini, Pasquale Niscola, Yasuhito Nannya, Esther Oliva, Maria Grazia D'Errigo, Valeria Santini, Alexander E. Smith, Corrado Mammì

المصدر: Blood. 138:1516-1516

مصطلحات موضوعية: Oncology, medicine.medical_specialty, business.industry, Immunology, Eltrombopag, Cell Biology, Hematology, Biochemistry, Preliminary analysis, chemistry.chemical_compound, chemistry, Internal medicine, Medicine, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::1527fbf0fff670ba421856d00f8602cb
https://doi.org/10.1182/blood-2021-150619

المؤلفون: Al Sayyad Said, Maria Grazia D'Errigo, Massimo Martino, Iolanda Vincelli, Stefania Ciolli, Corrado Mammì, Giuseppina Caruso, Patrizia Cufari, B Oliva, Bruno Martino, Cristina Garreffa, Mauro Campello, Carmelo Toscano, Irene Bova

المصدر: Blood. 136:37-37

مصطلحات موضوعية: business.industry, hemic and lymphatic diseases, Chronic lymphocytic leukemia, Immunology, medicine, Cancer research, Myeloid leukemia, Cell Biology, Hematology, medicine.disease, business, Biochemistry, Multiple myeloma

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::424445cd1b35a8e3c00d67039ba04a43
https://doi.org/10.1182/blood-2020-141974

المؤلفون: Fortunato Lombardo, Maria Francesca Messina, Giuseppina Salzano, Manuela Priolo, Stefano Passanisi, Giovanni Battista Pajno, Corrado Mammì, Lucia Caminiti, Letizia Pintomalli

المصدر: Diabetes Therapy

مصطلحات موضوعية: endocrine system, Genetic testing, Endocrinology, Diabetes and Metabolism, Case Report, 030209 endocrinology & metabolism, 030204 cardiovascular system & hematology, medicine.disease_cause, Maturity onset diabetes of the young, 03 medical and health sciences, 0302 clinical medicine, Diabetes mellitus, Internal Medicine, medicine, Hyperglycaemia, Missense mutation, Genetic testing, Hepatocyte nuclear factor 1-alpha, Hyperglycaemia, Inheritance, Missense mutation, MODY, Next-generation sequencing, Genetics, Mutation, Inheritance, medicine.diagnostic_test, business.industry, Glucokinase, Hepatocyte nuclear factor 1-alpha, medicine.disease, HNF1A, Hepatocyte nuclear factors, MODY, Next-generation sequencing, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f01c6ac98a9147cdc076a1fb26a25c84
http://hdl.handle.net/11570/3143554

المؤلفون: Carmelo Laganà, Fiorella Gurrieri, Maria Luigia Cavaliere, Manuela Priolo, Anita Wischmeijer, Giulia Rodella, Maria Antonietta Pisanti, Corrado Mammì, Giovanni Neri

المصدر: European Journal of Medical Genetics. 58:488-491

مصطلحات موضوعية: Male, Protein family, Developmental Disabilities, Mutation, Missense, Overgrowth syndrome, Settore MED/03 - GENETICA MEDICA, Craniofacial Abnormalities, Septo-Optic Dysplasia, Genetics, medicine, Humans, Abnormalities, Multiple, Genetic Testing, Child, Gene, Genetics (clinical), Bone Diseases, Developmental, Sotos Syndrome, biology, Nuclear factor I, Sotos syndrome, Intracellular Signaling Peptides and Proteins, Infant, Nuclear Proteins, Histone-Lysine N-Methyltransferase, General Medicine, DNA-binding domain, medicine.disease, NFIX, Molecular biology, DNA-Binding Proteins, NFI Transcription Factors, Phenotype, DNA-Binding/dimerization domain, Histone Methyltransferases, biology.protein, Female, Haploinsufficiency

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66ae4412caabdaf7d9fd5ddb829c1be9
https://doi.org/10.1016/j.ejmg.2015.06.009