المؤلفون: Bedeschi, Maria Francesca, M. Calvello, L. Paganini, L. Pezzani, M. Baccarin, L. Fontana, S.M. Sirchia, Guerneri, Silvana, L. Canazza, Leva, Ernesto, L.L. Colombo, Lalatta, Faustina, F. Mosca, S.M. Tabano, M.R. Miozzo

المساهمون: B. Maria Francesca, M. Calvello, L. Paganini, L. Pezzani, M. Baccarin, L. Fontana, S.M. Sirchia, G. Silvana, L. Canazza, L. Ernesto, L.L. Colombo, L. Faustina, F. Mosca, S.M. Tabano, M.R. Miozzo

مصطلحات موضوعية: Abdominal wall defect, Beckwith-Wiedemann syndrome, CDKN1C, Genomic imprinting, KCNQ1OT1:TSS-DMR, Omphalocele, Base Sequence, Child, Preschool, Chromosomes, Human, Pair 11, Consanguinity, Cyclin-Dependent Kinase Inhibitor p57, DNA Mutational Analysi, Female, Genetic Predisposition to Disease, Hernia, Umbilical, Infant, Newborn, Male, Mutation, Pedigree, Polymorphism, Single Nucleotide, Potassium Channels, Voltage-Gated, Sequence Deletion, Sequence Homology

Relation: info:eu-repo/semantics/altIdentifier/pmid/29047350; info:eu-repo/semantics/altIdentifier/wos/WOS:000413221300001; volume:18; issue:1; firstpage:1; lastpage:9; numberofpages:9; journal:BMC MEDICAL GENETICS; http://hdl.handle.net/2434/542749

الاتاحة: http://hdl.handle.net/2434/542749
https://doi.org/10.1186/s12881-017-0470-z

المؤلفون: D. Milani, L. Pezzani, G. Negri, C. Gervasini, S. Esposito

المساهمون: D. Milani, L. Pezzani, G. Negri, C. Gervasini, S. Esposito

مصطلحات موضوعية: Rubinstein-Taybi-syndrome, atrial-natriuretic-peptide, genetic-heterogeneity, mutations, Settore MED/03 - Genetica Medica, Settore MED/38 - Pediatria Generale e Specialistica, Settore MED/40 - Ginecologia e Ostetricia

Relation: info:eu-repo/semantics/altIdentifier/pmid/25629367; info:eu-repo/semantics/altIdentifier/wos/WOS:000349003300032; volume:33; issue:3; firstpage:664; lastpage:665; numberofpages:2; journal:JOURNAL OF HYPERTENSION; http://hdl.handle.net/2434/264667; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84922344439

الاتاحة: http://hdl.handle.net/2434/264667
https://doi.org/10.1097/HJH.0000000000000507

المؤلفون: D. Milani, F. Manzoni, L. Pezzani, C. Gervasini, S. Esposito, P. Ajmone, F. Menni

المساهمون: D. Milani, F. Manzoni, L. Pezzani, P. Ajmone, C. Gervasini, F. Menni, S. Esposito

مصطلحات موضوعية: CREBBP, Intellectual disability, Plurimalformative syndrome, Rubinstein syndrome, Rubinstein-Taybi syndrome, Settore MED/38 - Pediatria Generale e Specialistica, Settore MED/03 - Genetica Medica

Relation: info:eu-repo/semantics/altIdentifier/pmid/25903745; info:eu-repo/semantics/altIdentifier/wos/WOS:000350165100001; volume:41; issue:1; firstpage:1; lastpage:9; numberofpages:9; journal:THE ITALIAN JOURNAL OF PEDIATRICS; http://hdl.handle.net/2434/262190; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84928536207

الاتاحة: http://hdl.handle.net/2434/262190
https://doi.org/10.1186/s13052-015-0110-1

المؤلفون: L. Pezzani, D. Milani, F. Manzoni, M. Baccarin, R. Silipigni, S. Esposito, S. Guerneri

المساهمون: L. Pezzani, D. Milani, F. Manzoni, M. Baccarin, R. Silipigni, S. Guerneri, S. Esposito

مصطلحات موضوعية: HOXA, Speech delay, Hand-foot-genital syndrome, 7p15 deletion, Settore MED/38 - Pediatria Generale e Specialistica

Relation: info:eu-repo/semantics/altIdentifier/pmid/25881986; info:eu-repo/semantics/altIdentifier/wos/WOS:000352781300001; volume:41; firstpage:1; lastpage:7; numberofpages:7; journal:THE ITALIAN JOURNAL OF PEDIATRICS; http://hdl.handle.net/2434/295365; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84927518874

الاتاحة: http://hdl.handle.net/2434/295365
https://doi.org/10.1186/s13052-015-0137-3

المؤلفون: D. Milani, L. Pezzani, S. Tabano, M. Miozzo

المساهمون: D. Milani, L. Pezzani, S. Tabano, M. Miozzo

مصطلحات موضوعية: Beckwith–Wiedemann syndrome, CDKN1C, Genomic imprinting, Growth disturbance, IMAGe syndrome, Settore MED/03 - Genetica Medica

Relation: info:eu-repo/semantics/altIdentifier/pmid/25258553; volume:7; firstpage:169; lastpage:175; numberofpages:7; journal:THE APPLICATION OF CLINICAL GENETICS; http://hdl.handle.net/2434/246714; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84907519365

الاتاحة: http://hdl.handle.net/2434/246714
https://doi.org/10.2147/TACG.S35474

المؤلفون: L. Ronzoni, L. Pezzani, A. Tucci, M. Baccarin, S. Esposito, D. Milani, F. S. Grassi

المساهمون: L. Ronzoni, F.S. Grassi, L. Pezzani, A. Tucci, M. Baccarin, S. Esposito, D. Milani

مصطلحات موضوعية: 7p22.1 microduplication, ACTB gene, Renal anomalie, Abnormalities, Multiple, Actin, Adolescent, Chromosome Duplication, Chromosomes, Human, Pair 7, Comparative Genomic Hybridization, Craniofacial Abnormalitie, Female, Intellectual Disability, Kidney, Language Development Disorder, Male, Phenotype, Ubiquitin-Protein Ligase, Genetic, Genetics (clinical), Settore MED/38 - Pediatria Generale e Specialistica

Relation: info:eu-repo/semantics/altIdentifier/pmid/27866048; info:eu-repo/semantics/altIdentifier/wos/WOS:000398068300005; volume:60; issue:2; firstpage:114; lastpage:117; numberofpages:4; journal:EUROPEAN JOURNAL OF MEDICAL GENETICS; http://hdl.handle.net/2434/490710; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85007500899

الاتاحة: http://hdl.handle.net/2434/490710
https://doi.org/10.1016/j.ejmg.2016.11.005

المؤلفون: A. Tucci, L. Pezzani, G. Scuvera, L. Ronzoni, S. Esposito, D. Milani, E. Scola

المساهمون: A. Tucci, L. Pezzani, G. Scuvera, L. Ronzoni, E. Scola, S. Esposito, D. Milani

مصطلحات موضوعية: brain MRI, cutis verticis gyrata, epilepsy, intellectual disability, psychomotor delay, Genetic, Genetics (clinical), Settore MED/38 - Pediatria Generale e Specialistica

Relation: info:eu-repo/semantics/altIdentifier/pmid/28019079; info:eu-repo/semantics/altIdentifier/wos/WOS:000394903800009; volume:173; issue:3; firstpage:638; lastpage:646; numberofpages:9; journal:AMERICAN JOURNAL OF MEDICAL GENETICS. PART A; http://hdl.handle.net/2434/490694; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85007180293

الاتاحة: http://hdl.handle.net/2434/490694
https://doi.org/10.1002/ajmg.a.38054

المؤلفون: G. Tadini, L. Pezzani, S. Ghirardello, P. Rebulla, Esposito, Susanna Maria Roberta, F. Mosca

المساهمون: G., Tadini, L., Pezzani, S., Ghirardello, P., Rebulla, Esposito, Susanna Maria Roberta, F., Mosca

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/25572600; volume:2015; issue:articolo 207364; journal:BMJ CASE REPORT; http://hdl.handle.net/11391/1417845; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84921683142; http://casereports.bmj.com/content/2015/bcr-2014-207364.full.pdf+html?sid=d9ce7b5f-9d71-46c3-9821-97f6e5fa51ec

الاتاحة: http://hdl.handle.net/11391/1417845
https://doi.org/10.1136/bcr-2014-207364
http://casereports.bmj.com/content/2015/bcr-2014-207364.full.pdf+html?sid=d9ce7b5f-9d71-46c3-9821-97f6e5fa51ec

المؤلفون: D. Milani, L. Pezzani, G. Tadini, F. Menni, Esposito, Susanna Maria Roberta

المساهمون: D., Milani, L., Pezzani, G., Tadini, F., Menni, Esposito, Susanna Maria Roberta

مصطلحات موضوعية: Type-1

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/25496892; info:eu-repo/semantics/altIdentifier/wos/WOS:000346885300019; volume:14; issue:1; firstpage:29; lastpage:30; numberofpages:2; journal:LANCET NEUROLOGY; http://hdl.handle.net/11391/1417846; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84918545353; http://www.journals.elsevier.com/the-lancet-neurology/

الاتاحة: http://hdl.handle.net/11391/1417846
https://doi.org/10.1016/S1474-4422(14)70255-8
http://www.journals.elsevier.com/the-lancet-neurology/

المؤلفون: G. Tadini, S. Guez, L. Pezzani, M. Marconi, N. Greppi, F. Manzoni, P. Rebulla, Esposito, Susanna Maria Roberta

المساهمون: G., Tadini, S., Guez, L., Pezzani, M., Marconi, N., Greppi, F., Manzoni, P., Rebulla, Esposito, Susanna Maria Roberta

مصطلحات موضوعية: children, cord blood platelet gel, epidermolysis bullosa, paediatric dermatology, platelet gel

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/25369602; info:eu-repo/semantics/altIdentifier/wos/WOS:000351423200020; volume:13; issue:1; firstpage:153; lastpage:158; numberofpages:6; journal:BLOOD TRANSFUSION; http://hdl.handle.net/11391/1417731; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84922328440; http://www.bloodtransfusion.it/scarica.aspx?tipo=A&id=002803&riv=98

الاتاحة: http://hdl.handle.net/11391/1417731
https://doi.org/10.2450/2014.0160-14
http://www.bloodtransfusion.it/scarica.aspx?tipo=A&id=002803&riv=98

المؤلفون: D. Milani, M. Cerutti, L. Pezzani, P. Maffei, G. Milan, Esposito, Susanna Maria Roberta

المساهمون: D., Milani, M., Cerutti, L., Pezzani, P., Maffei, G., Milan, Esposito, Susanna Maria Roberta

مصطلحات موضوعية: Alstrom syndrome, Bardet-Biedl syndrome, Cone-rod dystrophy, Obesity, Syndromic obesity

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/24690487; info:eu-repo/semantics/altIdentifier/wos/WOS:000334961600001; volume:40; issue:articolo 33; firstpage:1; lastpage:5; numberofpages:5; journal:THE ITALIAN JOURNAL OF PEDIATRICS; http://hdl.handle.net/11391/1417680; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84908375335

الاتاحة: http://hdl.handle.net/11391/1417680
https://doi.org/10.1186/1824-7288-40-33

المؤلفون: G. Tadini, D. Milani, F. Menni, L. Pezzani, C. Sabatini, Esposito, Susanna Maria Roberta

المساهمون: G., Tadini, D., Milani, F., Menni, L., Pezzani, C., Sabatini, Esposito, Susanna Maria Roberta

مصطلحات موضوعية: Diagnostic criteria, Neurocutaneous disease, Neurofibromatosis 1, NF1, Rare disease

Relation: info:eu-repo/semantics/altIdentifier/pmid/24784952; info:eu-repo/semantics/altIdentifier/wos/WOS:000340265000011; volume:25; issue:6; firstpage:506; lastpage:510; numberofpages:5; journal:EUROPEAN JOURNAL OF INTERNAL MEDICINE; http://hdl.handle.net/11391/1417840; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84903378888

الاتاحة: http://hdl.handle.net/11391/1417840
https://doi.org/10.1016/j.ejim.2014.04.004

المؤلفون: L. PEZZANI, L. DRIUL, G. FABIANI, L. PLAINO, S. CASARSA, C. DI LEONARDO, D. MARCHESONI, MOZZANEGA, BRUNO

المساهمون: L., Pezzani, L., Driul, Mozzanega, Bruno, G., Fabiani, L., Plaino, S., Casarsa, C., DI LEONARDO, D., Marchesoni

وصف الملف: STAMPA

Relation: LXXVIII CONGRESSO S.I.G.O.; firstpage:813; lastpage:817; numberofpages:5; http://hdl.handle.net/11577/1357468

الاتاحة: http://hdl.handle.net/11577/1357468

المؤلفون: G. Tadini, F. Santagada, M. P. Boldrini, M. Brena, L. Pezzani, C. Gelmetti

المساهمون: G. Tadini, M. Brena, L. Pezzani, C. Gelmetti, F. Santagada, M.P. Boldrini

مصطلحات موضوعية: Anemic nevu, Clinicalfeature, Cutaneous finding, Neurofibromatosis type 1, Settore MED/35 - Malattie Cutanee e Veneree, Settore MED/03 - Genetica Medica

Relation: info:eu-repo/semantics/altIdentifier/pmid/23713063; info:eu-repo/semantics/altIdentifier/wos/WOS:000321029400005; volume:226; issue:2; firstpage:115; lastpage:118; numberofpages:4; journal:DERMATOLOGY; http://hdl.handle.net/2434/256050; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84879600533

الاتاحة: http://hdl.handle.net/2434/256050
https://doi.org/10.1159/000346643

المؤلفون: L, Pezzani, M, Brena, F, Santagada, E, Faure, G, Tadini

المصدر: Giornale italiano di dermatologia e venereologia : organo ufficiale, Societa italiana di dermatologia e sifilografia. 148(1)

مصطلحات موضوعية: Humans, Ichthyosis, Keratins, Syndrome

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::44070568309c93cd8fd4bb4315d2092a
https://pubmed.ncbi.nlm.nih.gov/23407073

المؤلفون: G, Tadini, F, Santagada, M, Brena, L, Pezzani, P, Nannini

المصدر: Giornale italiano di dermatologia e venereologia : organo ufficiale, Societa italiana di dermatologia e sifilografia. 148(1)

مصطلحات موضوعية: Phenotype, Ectodermal Dysplasia, Tumor Suppressor Proteins, Humans, Transcription Factors

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::24dae908868998c69c8acb50ff112a66
https://pubmed.ncbi.nlm.nih.gov/23407076

المؤلفون: Di Fede, Elisabetta, Lettieri, Antonella, Taci, Esi, Castiglioni, Silvia, Rebellato, Stefano, Parodi, Chiara, Colombo, Elisa Adele, Grazioli, Paolo, Natacci, Federica, Marchisio, Paola, Pezzani, Lidia, Fazio, Grazia, Milani, Donatella, Massa, Valentina, Gervasini, Cristina

المساهمون: E. Di Fede, A. Lettieri, E. Taci, S. Castiglioni, S. Rebellato, C. Parodi, E.A. Colombo, P. Grazioli, F. Natacci, P. Marchisio, L. Pezzani, G. Fazio, D. Milani, V. Massa, C. Gervasini

مصطلحات موضوعية: Settore MED/03 - Genetica Medica, Settore BIO/13 - Biologia Applicata

Relation: info:eu-repo/semantics/altIdentifier/pmid/38753158; info:eu-repo/semantics/altIdentifier/wos/WOS:001226727900001; firstpage:1; lastpage:13; numberofpages:13; journal:HUMAN GENETICS; https://hdl.handle.net/2434/1051070; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85193480415

الاتاحة: https://hdl.handle.net/2434/1051070
https://doi.org/10.1007/s00439-024-02675-0

المؤلفون: Cannova, Silvia, Meossi, Camilla, Grilli, Federico, Milani, Donatella, Alberti, Federica, Cesaretti, Claudia, Marchisio, Paola Giovanna, Crosti, Francesca, Pezzani, Lidia

المساهمون: S. Cannova, C. Meossi, F. Grilli, D. Milani, F. Alberti, C. Cesaretti, P.G. Marchisio, F. Crosti, L. Pezzani

مصطلحات موضوعية: CATSHL syndrome, FGFR3, LADD syndrome, camptodactyly, deafne, overgrowth, scoliosis, Settore MED/38 - Pediatria Generale e Specialistica

Relation: info:eu-repo/semantics/altIdentifier/pmid/37990933; info:eu-repo/semantics/altIdentifier/wos/WOS:001109253300001; volume:105; issue:3; firstpage:313; lastpage:316; numberofpages:4; journal:CLINICAL GENETICS; https://hdl.handle.net/2434/1022893; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85177554891

الاتاحة: https://hdl.handle.net/2434/1022893
https://doi.org/10.1111/cge.14455

المؤلفون: GIOVANNA TAGLIASCO, STEFANO MELLI, LUIGI MANDRACCIO, MATILDE PITANTI

المساهمون: A. BERTAGNA, M. GIBERTI, M. ARMIERO, L. PEZZANI, F. RAHOLA, F. TOMASINELLI, F. MANTOVANI, J. L. CANO, P. PUTTI, E. ROSSI, S. MARINI, A. PETRACCHIN, E. MONACI, M. DE NOBILI, T. GARGIULO, F. ZANOTTO, M, DUSSIN, N. RAVERA, F. CARERI, L. CARIGNANI, G. PIERUCCI, A. ROCCA, G. BALDI, P. BRUNAZZI B. BALDUCCI, C. PRADEL, I. SPAGNOLO , A. GEUNA, B. PERIC, V. M. SORGINI, G. M. TARONNA, G. AMADU, A. MONDIN, A. PASTORELLO, G. BANCHELLINI, L. MANDRACCIO, S. MELI, M. PITANTI, G. TAGLIASCO, C. ANDRIANI, M. GAUSA D.GENTILI, F. MANTOVANI, Tagliasco, Giovanna, Melli, Stefano, Mandraccio, Luigi, Pitanti, Matilde

وصف الملف: STAMPA

Relation: ispartofbook:Selve in città; firstpage:218; lastpage:223; numberofpages:6; http://hdl.handle.net/11567/1069860

الاتاحة: http://hdl.handle.net/11567/1069860

المؤلفون: Paganini, Leda, Hadi, Loubna A, CHETTA, MASSIMILIANO, Rovina, Davide, Fontana, Laura, Colapietro, Patrizia, Bonaparte, Eleonora, Pezzani, Lidia, Marchisio, Paola, Tabano, Silvia M, Costanza, Jole, Sirchia, Silvia M, Riboni, Laura, Milani, Donatella, Miozzo, Monica

المساهمون: L. Paganini, L.A. Hadi, M. Chetta, D. Rovina, L. Fontana, P. Colapietro, E. Bonaparte, L. Pezzani, P. Marchisio, S.M. Tabano, J. Costanza, S.M. Sirchia, L. Riboni, D. Milani, M. Miozzo

مصطلحات موضوعية: HS6ST2, intellectual disability (ID), syndromic myopia, whole exome sequencing (WES), Settore MED/03 - Genetica Medica, Settore BIO/10 - Biochimica, Settore MED/38 - Pediatria Generale e Specialistica

Relation: info:eu-repo/semantics/altIdentifier/pmid/30471091; info:eu-repo/semantics/altIdentifier/wos/WOS:000458956100003; numberofpages:7; journal:CLINICAL GENETICS; http://hdl.handle.net/2434/609435; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85059071141

الاتاحة: http://hdl.handle.net/2434/609435
https://doi.org/10.1111/cge.13485