المؤلفون: Montanaro F. A. M., Alfieri P., Caciolo C., Brunetti A., Airoldi A., de Florio A., Tinella L., Bosco A., Vicari S.

المساهمون: Montanaro, F. A. M., Alfieri, P., Caciolo, C., Brunetti, A., Airoldi, A., de Florio, A., Tinella, L., Bosco, A., Vicari, S.

مصطلحات موضوعية: Cognitive phenotype, Developmental disorder, FMR1 gene, FMR1 premutation, Fragile X syndrome, Intellectual disability, Voice of the patient

Relation: info:eu-repo/semantics/altIdentifier/pmid/38997701; info:eu-repo/semantics/altIdentifier/wos/WOS:001271648700001; volume:19; numberofpages:13; journal:ORPHANET JOURNAL OF RARE DISEASES; https://hdl.handle.net/11586/506020

الاتاحة: https://hdl.handle.net/11586/506020
https://doi.org/10.1186/s13023-024-03272-0

المؤلفون: Caciolo C., Zollino M.

المساهمون: Macchiaiolo, M., Panfili, F. M., Vecchio, D., Gonfiantini, M. V., Cortellessa, F., Caciolo, Cristina, Zollino, Marcella, Accadia, M., Seri, M., Chinali, M., Mammi, C., Tartaglia, M., Bartuli, A., Alfieri, P., Priolo, M.

مصطلحات موضوعية: Deep phenotyping, Malan syndrome, NFIX, Overgrowth, Sotos syndrome 2, Settore MED/03 - GENETICA MEDICA

Relation: info:eu-repo/semantics/altIdentifier/pmid/35717370; info:eu-repo/semantics/altIdentifier/wos/WOS:000812642600003; volume:17; issue:1; firstpage:235; lastpage:N/A; issueyear:2022; journal:ORPHANET JOURNAL OF RARE DISEASES; https://hdl.handle.net/10807/242596; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85132114795

الاتاحة: https://hdl.handle.net/10807/242596
https://doi.org/10.1186/s13023-022-02384-9

المؤلفون: Alfieri P., Demaria F., Licchelli S., Santonastaso O., Caciolo C., Digilio M. C., Sinibaldi L., Leoni C., Gnazzo M., Tartaglia M., Pasqualetti P., Vicari S.

المساهمون: Alfieri, P., Demaria, F., Licchelli, S., Santonastaso, O., Caciolo, C., Digilio, M. C., Sinibaldi, L., Leoni, C., Gnazzo, M., Tartaglia, M., Pasqualetti, P., Vicari, S.

مصطلحات موضوعية: ankrd11, developmental disorder, obsessive compulsive symptoms

Relation: info:eu-repo/semantics/altIdentifier/pmid/31703437; info:eu-repo/semantics/altIdentifier/wos/WOS:000502273900024; volume:9; issue:11; firstpage:1; lastpage:13; numberofpages:13; journal:BRAIN SCIENCES; http://hdl.handle.net/11573/1578428; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85074649128

الاتاحة: http://hdl.handle.net/11573/1578428
https://doi.org/10.3390/brainsci9110313

المؤلفون: Piccini, G., Menghini, D., D'Andrea, A., Caciolo, C., Pontillo, M., Armando, M., Perrino, F., Mandolesi, L., Salerni, A., Buzzonetti, L., Digilio, M. C., Zampino, G., Tartaglia, M., Benassi, M., Vicari, S., Alfieri, P.

المساهمون: AISC (Associazione Italiana Sindrome di Costello)

المصدر: Genes, Brain and Behavior ; volume 16, issue 6, page 627-634 ; ISSN 1601-1848 1601-183X

الاتاحة: http://dx.doi.org/10.1111/gbb.12381
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fgbb.12381
https://onlinelibrary.wiley.com/doi/pdf/10.1111/gbb.12381

المؤلفون: Macchiaiolo, M., Panfili, F. M., Vecchio, D., Gonfiantini, M. V., Cortellessa, F., Caciolo, Cristina, Zollino, Marcella, Accadia, M., Seri, M., Chinali, M., Mammi, C., Tartaglia, M., Bartuli, A., Alfieri, P., Priolo, M., Caciolo C., Zollino M. (ORCID:0000-0003-4871-9519)

مصطلحات الفهرس: Deep phenotyping, Malan syndrome, NFIX, Overgrowth, Sotos syndrome 2, Settore MED/03 - GENETICA MEDICA, info:eu-repo/semantics/article

URL: https://hdl.handle.net/10807/242596
info:eu-repo/semantics/altIdentifier/pmid/35717370
volume:17
issue:1
firstpage:235
lastpage:N/A
issueyear:2022
journal:ORPHANET JOURNAL OF RARE DISEASES

المؤلفون: Alfieri, P., Macchiaiolo, M., Collotta, M., Montanaro, F. A. M., Caciolo, C., Cumbo, F., Galassi, P., Panfili, F. M., Cortellessa, F., Zollino, Marcella, Accadia, M., Seri, M., Tartaglia, M., Bartuli, A., Mammi, C., Vicari, Stefano, Priolo, M., Zollino M. (ORCID:0000-0003-4871-9519), Vicari S. (ORCID:0000-0002-5395-2262)

مصطلحات الفهرس: adaptive behavior, cognition, intellectual disability, Malan Syndrome, NFIX variants, sensory processing, Settore MED/03 - GENETICA MEDICA, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, info:eu-repo/semantics/article

URL: https://hdl.handle.net/10807/242674
info:eu-repo/semantics/altIdentifier/pmid/35887841
volume:11
issue:14
firstpage:4078
lastpage:N/A
issueyear:2022
journal:JOURNAL OF CLINICAL MEDICINE

المؤلفون: Costanzo F., Alfieri P., Caciolo C., Bergonzini P., Perrino F., Zampino G., Leoni C., Menghini D., Digilio M. C., Tartaglia M., Vicari S., Carlesimo G

المساهمون: Costanzo, F, Alfieri, P, Caciolo, C, Bergonzini, P, Perrino, F, Zampino, G, Leoni, C, Menghini, D, Digilio, Mc, Tartaglia, M, Vicari, S, Carlesimo, G

مصطلحات موضوعية: PTPN11, RAS–MAPK, developmental disorders, episodic memory, hippocampal memory processes, Settore MED/26 - NEUROLOGIA

Relation: info:eu-repo/semantics/altIdentifier/pmid/33572736; info:eu-repo/semantics/altIdentifier/wos/WOS:000622315500001; volume:11; issue:2; firstpage:1; lastpage:17; numberofpages:17; journal:BRAIN SCIENCES; http://hdl.handle.net/2108/274827; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85100646802

الاتاحة: http://hdl.handle.net/2108/274827
https://doi.org/10.3390/brainsci11020169

المؤلفون: Alfieri, P., Scibelli, F., Digilio, M. C., Novello, R. L., Caciolo, C., Valeri, G., Vicari, Stefano, Vicari S. (ORCID:0000-0002-5395-2262)

مصطلحات الفهرس: adaptive profile, autism spectrum disorder, communication, cross-syndrome comparison, expressive, socialization, Williams Beuren syndrome, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, info:eu-repo/semantics/article

URL: http://hdl.handle.net/10807/179893
info:eu-repo/semantics/altIdentifier/pmid/33314766
info:eu-repo/semantics/altIdentifier/wos/WOS:000597620900001
volume:14
issue:4
firstpage:748
lastpage:758
numberofpages:11
issueyear:2020
journal:AUTISM RESEARCH

المؤلفون: Alfieri, P., Scibelli, F., Sinibaldi, L., Valeri, G., Caciolo, C., Novello, R. L., Novelli, A., Digilio, M. C., Tartaglia, M., Vicari, Stefano, Vicari S. (ORCID:0000-0002-5395-2262)

مصطلحات الفهرس: 2p16.3 deletion, autism spectrum disorder, carriers, heterogeneous expression, incomplete penetrance, intellectual disability, NRXN1 deletion, social communication, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, info:eu-repo/semantics/article

URL: http://hdl.handle.net/10807/179894
info:eu-repo/semantics/altIdentifier/pmid/32658356
info:eu-repo/semantics/altIdentifier/wos/WOS:000562984400001
volume:19
issue:7
firstpage:e12687
lastpage:e12687
issueyear:2020
journal:GENES BRAIN AND BEHAVIOR

المؤلفون: Lepri FR, Cocciadiferro D, Augello B, Alfieri P, Pes V, Vancini A, Caciolo C, Squeo GM, Malerba N, Adipietro I, Novelli A, Sotgiu S, Gherardi R, Digilio MC, Dallapiccola B, Merla G

المساهمون: Lepri, Fr, Cocciadiferro, D, Augello, B, Alfieri, P, Pes, V, Vancini, A, Caciolo, C, Squeo, Gm, Malerba, N, Adipietro, I, Novelli, A, Sotgiu, S, Gherardi, R, Digilio, Mc, Dallapiccola, B, Merla, G

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000424407200080; volume:19; issue:1; journal:INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES; http://hdl.handle.net/11588/873944; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85039856621

الاتاحة: http://hdl.handle.net/11588/873944
https://doi.org/10.3390/ijms19010082

المؤلفون: Perrino F., Licchelli S., Serra G., Piccini G., Caciolo C., Pasqualetti P., Cirillo F., Leoni C., Digilio M. C., Zampino G., Tartaglia M., Alfieri P., Vicari S.

المساهمون: Perrino, F., Licchelli, S., Serra, G., Piccini, G., Caciolo, C., Pasqualetti, P., Cirillo, F., Leoni, C., Digilio, M. C., Zampino, G., Tartaglia, M., Alfieri, P., Vicari, S.

مصطلحات موضوعية: adhd, anxiety, behavioural phenotype, depression, noonan syndrome, adolescent, age of onset, attention deficit disorder with hyperactivity, child, comorbidity, diagnostic and statistical manual of mental disorder, female, human, italy, male, prevalence, prodromal symptom, prospective studie, psychiatric status rating scales, psy, socio

Relation: http://hdl.handle.net/11573/1578566

الاتاحة: http://hdl.handle.net/11573/1578566

المؤلفون: Lepri FR, Cocciadiferro D, Augello B, Alfieri P, Pes V, Vancini A, Caciolo C, Squeo GM, Malerba N, Adipietro I, Novelli A, Sotgiu S, Gherardi R, Digilio MC, Dallapiccola B, Merla G

المساهمون: Lepri, Fr, Cocciadiferro, D, Augello, B, Alfieri, P, Pes, V, Vancini, A, Caciolo, C, Squeo, Gm, Malerba, N, Adipietro, I, Novelli, A, Sotgiu, S, Gherardi, R, Digilio, Mc, Dallapiccola, B, Merla, G

Relation: volume:Dec 28;19(1).; journal:INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES; http://hdl.handle.net/11388/220357

الاتاحة: http://hdl.handle.net/11388/220357

المؤلفون: Piccini, G., Menghini, D., D'Andrea, A., Caciolo, C., Pontillo, M., Armando, M., Perrino, Francesca, Mandolesi, L., Salerni, Annabella, Buzzonetti, L., Digilio, M. C., Zampino, Giuseppe, Tartaglia, M., Benassi, M., Vicari, S., Alfieri, P., Pitocco, Dario

المساهمون: Piccini, G., Menghini, D., D'Andrea, A., Caciolo, C., Pontillo, M., Armando, M., Perrino, F., Mandolesi, L., Salerni, A., Buzzonetti, L., Digilio, M. C., Zampino, G., Tartaglia, M., Benassi, M., Vicari, S., Alfieri, P.

المصدر: Genes, brain, and behavior. 16(6)

مصطلحات موضوعية: Male, genetic syndromes, visual-perceptual abilitie, 22q11 Deletion Syndrome, phenotype, genotype, Developmental disorder, Behavioral Neuroscience, ventral stream, Genetic, Developmental disorders, dorsal stream, form coherence, intellectual disability, motion coherence, visual-perceptual abilities, Brain, Child, Female, Humans, Noonan Syndrome, Visual Perception, Genetics, Neurology, genetic syndrome, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Human

وصف الملف: ELETTRONICO

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::03d5ee174eda4a556eae65d78642ded6
https://pubmed.ncbi.nlm.nih.gov/28378436

المؤلفون: Alfieri, P., Caciolo, C., Piccini, G., D'Elia, L., Valeri, G., Menghini, D., Tartaglia, M., Digilio, M. C., Dallapiccola, B., Vicari, Stefano, Vicari S. (ORCID:0000-0002-5395-2262)

مصطلحات الفهرس: Behavior, Costello syndrome, Genotype, HRAS, Pervasive developmental disorder, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, info:eu-repo/semantics/article

URL: http://hdl.handle.net/10807/167356
info:eu-repo/semantics/altIdentifier/pmid/25367099
info:eu-repo/semantics/altIdentifier/wos/WOS:000350064100006
volume:168
issue:1
firstpage:66
lastpage:71
numberofpages:6
issueyear:2015
journal:AMERICAN JOURNAL OF MEDICAL GENETICS. PART B, NEUROPSYCHIATRIC GENETICS

المؤلفون: Alfieri, P, Piccini, G, Caciolo, C, Perrino, F, Gambardella, Ml, Mallardi, M, Cesarini, L, Leoni, C, Leone, D, Fossati, C, Selicorni, A, Digilio, Mc, Tartaglia, M, Mercuri, Eugenio Maria, Zampino, Giuseppe, Vicari, Stefano, Mercuri, Eugenio Maria (ORCID:0000-0002-9851-5365), Zampino, G (ORCID:0000-0003-3865-3253), Vicari, S. (ORCID:0000-0002-5395-2262)

مصطلحات الفهرس: Costello syndrome, LEOPARD syndrome, Noonan syndrome, Noonan-like syndrome with loose anagen hair, RAS/MAPK cascade, behavior, cardiofaciocutaneous syndrome, genotype-phenotype correlation analyses, Adolescent, Adult, Autistic Disorder, Child, Child, Preschool, Costello Syndrome, Developmental Disabilities, Ectodermal Dysplasia, Facies, Failure to Thrive, Female, Heart Defects, Congenital, Humans, LEOPARD Syndrome, MAP Kinase Signaling System, Male, Mental Disorders, Mutation, Noonan Syndrome, Young Adult, ras Proteins, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, info:eu-repo/semantics/article

URL: http://hdl.handle.net/10807/65138
info:eu-repo/semantics/altIdentifier/pmid/24458522
info:eu-repo/semantics/altIdentifier/wos/WOS:000333193800035
volume:164A
issue:4
firstpage:934
lastpage:942
numberofpages:9
issueyear:N/A
journal:AMERICAN JOURNAL OF MEDICAL GENETICS. PART A

المؤلفون: Alfieri, Paolo, Cesarini, L, Mallardi, Maria, Piccini, G, Caciolo, C, Leoni, Chiara, Mirante, N, Pantaleoni, F, Digilio, Mc, Gambardella, Maria Luigia, Tartaglia, Marco, Vicari, S, Mercuri, Eugenio Maria, Zampino, Giuseppe, Mercuri, Eugenio Maria (ORCID:0000-0002-9851-5365), Zampino, Giuseppe (ORCID:0000-0003-3865-3253)

مصطلحات الفهرس: RAS-MAPK, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, info:eu-repo/semantics/article

URL: http://hdl.handle.net/10807/4841
info:eu-repo/semantics/altIdentifier/wos/WOS:000291035400010
volume:2011
issue:Gennaio
firstpage:423
lastpage:429
numberofpages:7
issueyear:2011
journal:BEHAVIOR GENETICS

المؤلفون: Zuckner, J., Ramsey, R. H., Caciolo, C., Gantner, G. E.

المصدر: Annals of the Rheumatic Diseases ; volume 17, issue 4, page 398-405 ; ISSN 0003-4967

الاتاحة: http://dx.doi.org/10.1136/ard.17.4.398
https://syndication.highwire.org/content/doi/10.1136/ard.17.4.398

المؤلفون: Zekert, H., Entrup, R. W., Walter, K. E., Paiewonsky, D., Caciolo, C., Muelheims, G., Wegria, R.

المصدر: Experimental Biology and Medicine ; volume 115, issue 2, page 491-495 ; ISSN 1535-3702 1535-3699

الاتاحة: http://dx.doi.org/10.3181/00379727-115-28949

المؤلفون: Zollino M., Vicari S.

المساهمون: Alfieri, P., Macchiaiolo, M., Collotta, M., Montanaro, F. A. M., Caciolo, C., Cumbo, F., Galassi, P., Panfili, F. M., Cortellessa, F., Zollino, Marcella, Accadia, M., Seri, M., Tartaglia, M., Bartuli, A., Mammi, C., Vicari, Stefano, Priolo, M.

مصطلحات موضوعية: adaptive behavior, cognition, intellectual disability, Malan Syndrome, NFIX variants, sensory processing, Settore MED/03 - GENETICA MEDICA, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA

Relation: info:eu-repo/semantics/altIdentifier/pmid/35887841; info:eu-repo/semantics/altIdentifier/wos/WOS:000831514000001; volume:11; issue:14; firstpage:4078; lastpage:N/A; issueyear:2022; journal:JOURNAL OF CLINICAL MEDICINE; https://hdl.handle.net/10807/242674; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85136358718

الاتاحة: https://hdl.handle.net/10807/242674
https://doi.org/10.3390/jcm11144078

المؤلفون: Vicari S.

المساهمون: Alfieri, P., Scibelli, F., Digilio, M. C., Novello, R. L., Caciolo, C., Valeri, G., Vicari, Stefano

مصطلحات موضوعية: adaptive profile, autism spectrum disorder, communication, cross-syndrome comparison, expressive, socialization, Williams Beuren syndrome, Settore MED/39 - NEUROPSICHIATRIA INFANTILE

Relation: info:eu-repo/semantics/altIdentifier/pmid/33314766; info:eu-repo/semantics/altIdentifier/wos/WOS:000597620900001; volume:14; issue:4; firstpage:748; lastpage:758; numberofpages:11; issueyear:2020; journal:AUTISM RESEARCH; http://hdl.handle.net/10807/179893; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85096009780

الاتاحة: http://hdl.handle.net/10807/179893
https://doi.org/10.1002/aur.2455