المؤلفون: Mastromoro G., Santoro C., Motta M., Sorrentino U., Daniele P., Peduto C., Petrizzelli F., Tripodi M., Pinna V., Zanobio M., Rotundo G., Bellacchio E., Lepri F., Farina A., D'Asdia M. C., Piceci-Sparascio F., Biagini T., Petracca A., Castori M., Melis D., Accadia M., Traficante G., Tarani L., Fontana P., Sirchia F., Paparella R., Curro A., Benedicenti F., Scala I., Dentici M. L., Leoni C., Trevisan V., Cecconi A., Giustini S., Pizzuti A., Salviati L., Novelli A., Zampino G., Zenker M., Genuardi M., Digilio M. C., Papi L., Perrotta S., Nigro V., Castellanos E., Mazza T., Trevisson E., Tartaglia M., Piluso G., De Luca A.

المساهمون: Mastromoro, G., Santoro, C., Motta, M., Sorrentino, U., Daniele, P., Peduto, C., Petrizzelli, F., Tripodi, M., Pinna, V., Zanobio, M., Rotundo, G., Bellacchio, E., Lepri, F., Farina, A., D'Asdia, M. C., Piceci-Sparascio, F., Biagini, T., Petracca, A., Castori, M., Melis, D., Accadia, M., Traficante, G., Tarani, L., Fontana, P., Sirchia, F., Paparella, R., Curro, A., Benedicenti, F., Scala, I., Dentici, M. L., Leoni, C., Trevisan, V., Cecconi, A., Giustini, S., Pizzuti, A., Salviati, L., Novelli, A., Zampino, G., Zenker, M., Genuardi, M., Digilio, M. C., Papi, L., Perrotta, S., Nigro, V., Castellanos, E., Mazza, T., Trevisson, E., Tartaglia, M., Piluso, G., De Luca, A.

مصطلحات موضوعية: café-au-lait macule, LZTR1, Neurofibromatosis type 1, Noonan syndrome, Schwannomatosis

Relation: info:eu-repo/semantics/altIdentifier/pmid/39140257; info:eu-repo/semantics/altIdentifier/wos/WOS:001331416400001; volume:26; issue:11; journal:GENETICS IN MEDICINE; https://hdl.handle.net/11577/3537600

الاتاحة: https://hdl.handle.net/11577/3537600
https://doi.org/10.1016/j.gim.2024.101241

المؤلفون: Cudini A., Nardella C., Bellacchio E., Palma A., Delfino D. V., Betterle C., Cappa M., Fierabracci A.

المساهمون: Cudini, A., Nardella, C., Bellacchio, E., Palma, A., Delfino, D. V., Betterle, C., Cappa, M., Fierabracci, A.

مصطلحات موضوعية: AIRE, AIRE gene promoter, autoimmune etiopathogenesis, autoimmune polyglandular syndrome, polymorphisms, sequencing

Relation: info:eu-repo/semantics/altIdentifier/pmid/38473903; info:eu-repo/semantics/altIdentifier/wos/WOS:001183168300001; volume:25; issue:5; journal:INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES; https://hdl.handle.net/11391/1571613; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85187444861

الاتاحة: https://hdl.handle.net/11391/1571613
https://doi.org/10.3390/ijms25052656

المؤلفون: Bruni V., Spoleti C. B., La Barbera A., Dattilo V., Colao E., Votino C., Bellacchio E., Perrotti N., Giglio S., Iuliano R.

المساهمون: Bruni, V., Spoleti, C. B., La Barbera, A., Dattilo, V., Colao, E., Votino, C., Bellacchio, E., Perrotti, N., Giglio, S., Iuliano, R.

مصطلحات موضوعية: Achondrogenesis type II, COL2A1, in-frame deletion, minigene assay, skeletal dysplasia, splicing variant

Relation: info:eu-repo/semantics/altIdentifier/pmid/34573377; info:eu-repo/semantics/altIdentifier/wos/WOS:000700673000001; volume:12; issue:9; firstpage:1; lastpage:9; numberofpages:9; journal:GENES; http://hdl.handle.net/11584/319196; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85115127624

الاتاحة: http://hdl.handle.net/11584/319196
https://doi.org/10.3390/genes12091395

المؤلفون: Stellingwerff, M. D. (Menno D.), Figuccia, S. (Sonia), Bellacchio, E. (Emanuele), Alvarez, K. (Karin), Castiglioni, C. (Claudia), Topaloglu, P. (Pinar), Stutterd, C. A. (Chloe A.), Erasmus, C. E. (Corrie E.), Sanchez‐Valle, A. (Amarilis), Lebon, S. (Sebastien), Hughes, S. (Sarah), Schmitt-Mechelke, T. (Thomas), Vasco, G. (Gessica), Chow, G. (Gabriel), Rahikkala, E. (Elisa), Dallabona, C. (Cristina), Okuma, C. (Cecilia), Aiello, C. (Chiara), Goffrini, P. (Paola), Abbink, T. E. (Truus E.M.), Bertini, E. S. (Enrico S.), Van der Knaap, M. S. (Marjo S.)

وصف الملف: application/pdf

الاتاحة: http://urn.fi/urn:nbn:fi-fe2021082644437

المؤلفون: Panera N., Meroni M., Longo M., Crudele A., Valenti L., Bellacchio E., Miele L., D'Oria V., Paolini E., Maggioni M., Fracanzani A. L., Alisi A., Dongiovanni P.

المساهمون: N. Panera, M. Meroni, M. Longo, A. Crudele, L. Valenti, E. Bellacchio, L. Miele, V. D'Oria, E. Paolini, M. Maggioni, A.L. Fracanzani, A. Alisi, P. Dongiovanni

مصطلحات موضوعية: HSCS activation, Liver damage, MAFLD, protein stability, Settore MED/09 - Medicina Interna

Relation: info:eu-repo/semantics/altIdentifier/pmid/33640795; info:eu-repo/semantics/altIdentifier/wos/WOS:000634284800003; volume:65; firstpage:1; lastpage:12; numberofpages:12; journal:EBIOMEDICINE; http://hdl.handle.net/2434/861586; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85101415335

الاتاحة: http://hdl.handle.net/2434/861586
https://doi.org/10.1016/j.ebiom.2021.103249

المؤلفون: Stellingwerff, M.D., Figuccia, S., Bellacchio, E., Alvarez, K., Castiglioni, C., Topaloglu, P., Stutterd, C.A., Erasmus, C.E., Sanchez-Valle, A., Lebon, S., Hughes, S., Schmitt-Mechelke, T., Vasco, G., Chow, G., Rahikkala, E., Dallabona, C., Okuma, C., Aiello, C., Goffrini, P., Abbink, TEM, Bertini, E.S., Van der Knaap, M.S.

المصدر: Neurology. Genetics, vol. 7, no. 2, pp. e559

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/33977142; info:eu-repo/semantics/altIdentifier/pissn/2376-7839; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_3232F68A885B2; https://serval.unil.ch/notice/serval:BIB_3232F68A885B; https://serval.unil.ch/resource/serval:BIB_3232F68A885B.P001/REF.pdf

الاتاحة: https://serval.unil.ch/notice/serval:BIB_3232F68A885B
https://doi.org/10.1212/NXG.0000000000000559
https://serval.unil.ch/resource/serval:BIB_3232F68A885B.P001/REF.pdf
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_3232F68A885B2

المؤلفون: Stellingwerff, MD, Figuccia, S, Bellacchio, E, Alvarez, K, Castiglioni, C, Topaloglu, P, Stutterd, CA, Erasmus, CE, Sanchez-Valle, A, Lebon, S, Hughes, S, Schmitt-Mechelke, T, Vasco, G, Chow, G, Rahikkala, E, Dallabona, C, Okuma, C, Aiello, C, Goffrini, P, Abbink, TEM, Bertini, ES, Van der Knaap, MS

Relation: pii: NG2020015859; Stellingwerff, M. D., Figuccia, S., Bellacchio, E., Alvarez, K., Castiglioni, C., Topaloglu, P., Stutterd, C. A., Erasmus, C. E., Sanchez-Valle, A., Lebon, S., Hughes, S., Schmitt-Mechelke, T., Vasco, G., Chow, G., Rahikkala, E., Dallabona, C., Okuma, C., Aiello, C., Goffrini, P. ,. Van der Knaap, M. S. (2021). LBSL: Case Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected Presentations. Neurol Genet, 7 (2), pp.e559-. https://doi.org/10.1212/NXG.0000000000000559.; http://hdl.handle.net/11343/301744

الاتاحة: http://hdl.handle.net/11343/301744

المؤلفون: Lin, Y-C, Niceta, M, Muto, V, Vona, B, Pagnamenta, AT, Maroofian, R, Beetz, C, van Duyvenvoorde, H, Dentici, ML, Lauffer, P, Vallian, S, Ciolfi, A, Pizzi, S, Bauer, P, Grüning, N-M, Bellacchio, E, Del Fattore, A, Petrini, S, Shaheen, R, Tiosano, D, Halloun, R, Pode-Shakked, B, Albayrak, HM, Işık, E, Wit, JM, Dittrich, M, Freire, BL, Bertola, DR, Jorge, AAL, Barel, O, Sabir, AH, Al Tenaiji, AMJ, Taji, SM, Al-Sannaa, N, Al-Abdulwahed, H, Digilio, MC, Irving, M, Anikster, Y, Bhavani, GSL, Girisha, KM, Haaf, T, Taylor, JC, Dallapiccola, B, Alkuraya, FS, Yang, R-B, Tartaglia, M

المساهمون: Consortium, Genomics England Research

Relation: https://ora.ox.ac.uk/objects/uuid:50c1a2ab-6630-4fa7-ae4d-495b44019a40; https://doi.org/10.1016/j.ajhg.2020.11.015

الاتاحة: https://doi.org/10.1016/j.ajhg.2020.11.015
https://ora.ox.ac.uk/objects/uuid:50c1a2ab-6630-4fa7-ae4d-495b44019a40

المؤلفون: Lin, YC, Niceta, M, Muto, V, Vona, B, Pagnamenta, AT, Maroofian, R, Beetz, C, van Duyvenvoorde, H, Dentici, ML, Lauffer, P, Vallian, S, Ciolfi, A, Pizzi, S, Bauer, P, Grüning, NM, Bellacchio, E, Del Fattore, A, Petrini, S, Shaheen, R, Tiosano, D, Halloun, R, Pode-Shakked, B, Albayrak, HM, Işık, E, Wit, JM, Dittrich, M, Freire, BL, Bertola, DR, Jorge, AAL, Barel, O, Sabir, AH, Al Tenaiji, AMJ, Taji, SM, Al-Sannaa, N, Al-Abdulwahed, H, Digilio, MC, Irving, M, Anikster, Y, Bhavani, GSL, Girisha, KM, Haaf, T, Taylor, JC, Dallapiccola, B, Alkuraya, FS, Yang, RB, Tartaglia, M

المصدر: American Journal of Human Genetics , 108 (1) pp. 115-133. (2021)

مصطلحات موضوعية: SCUBE, BMP, BMP receptors, bone morphogenetic protein, skeletal development, morphogenesis, genomic sequencing, mechanism of disease, intracellular signaling

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10158748/1/SCUBE3_loss_of_function.pdf; https://discovery.ucl.ac.uk/id/eprint/10158748/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10158748/1/SCUBE3_loss_of_function.pdf
https://discovery.ucl.ac.uk/id/eprint/10158748/

المؤلفون: Mortari, E. Piano, Folgiero, V, Marcellini, V, Romania, P, Bellacchio, E, D'alicandro, V, Bocci, C, Carrozzo, R, MARTINELLI, DARIO, Petrini, S, Axiotis, E, Farroni, C, Locatelli, F, Schara, U, Pilz, D, Jungbluth, H, Dionisi-vici, C, Carsetti, R.

المساهمون: Mortari, E. Piano, Folgiero, V, Marcellini, V, Romania, P, Bellacchio, E, D'Alicandro, V, Bocci, C, Carrozzo, R, Martinelli, Dario, Petrini, S, Axiotis, E, Farroni, C, Locatelli, F, Schara, U, Pilz, D, Jungbluth, H, Dionisi-vici, C, Carsetti, R.

مصطلحات موضوعية: epg5, tlr9, vici syndrome, endosomal trafficking, memory b cells

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/29130391; info:eu-repo/semantics/altIdentifier/wos/WOS:000427049900003; volume:14; issue:1; firstpage:22; lastpage:37; numberofpages:16; journal:AUTOPHAGY; http://hdl.handle.net/11573/1017811; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85039862687

الاتاحة: http://hdl.handle.net/11573/1017811
https://doi.org/10.1080/15548627.2017.1389356

المؤلفون: Fattori, F., Fiorillo, C., Rodolico, C., Tasca, G., Verardo, M., Bellacchio, E., Pizzi, S., Ciolfi, A., Fagiolari, G., Lupica, A., Broda, P., Pedemonte, M., Moggio, M., Bruno, C., Tartaglia, M., Bertini, E., D'Amico, Adele

المساهمون: Fattori, F., Fiorillo, C., Rodolico, C., Tasca, G., Verardo, M., Bellacchio, E., Pizzi, S., Ciolfi, A., Fagiolari, G., Lupica, A., Broda, P., Pedemonte, M., Moggio, M., Bruno, C., Tartaglia, M., Bertini, E., D'Amico, Adele

مصطلحات موضوعية: CFL2, cofilin-2, congenital myopathy, myofibrillar myopathy, nemaline myopathy, NGS, sarcoplasmic aggregate, Genetic, Genetics (clinical)

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/29457652; info:eu-repo/semantics/altIdentifier/wos/WOS:000431979100014; volume:93; firstpage:1234; lastpage:1239; numberofpages:6; journal:CLINICAL GENETICS; http://hdl.handle.net/11567/944550; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85044193949

الاتاحة: http://hdl.handle.net/11567/944550
https://doi.org/10.1111/cge.13240

المؤلفون: Callea F., Giovannoni I., Francalanci P., Boldrini R., Faa G., Medicina D., Nobili V., Desmet V. J., Ishak K., Seyama K., Bellacchio E.

المساهمون: Callea, F., Giovannoni, I., Francalanci, P., Boldrini, R., Faa, G., Medicina, D., Nobili, V., Desmet, V. J., Ishak, K., Seyama, K., Bellacchio, E.

مصطلحات موضوعية: calcification, Mmalton, Animals, Calcium, Genotype, Humans, Inclusion Bodies, Liver, Medical Records, Mutation, Retrospective Studies, alpha 1-Antitrypsin, alpha 1-Antitrypsin Deficiency, Alpha-1-antitrypsin deficiency

Relation: info:eu-repo/semantics/altIdentifier/pmid/29769092; info:eu-repo/semantics/altIdentifier/wos/WOS:000432238200001; volume:13; issue:1; numberofpages:9; journal:ORPHANET JOURNAL OF RARE DISEASES; http://hdl.handle.net/11584/310877; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85047211648

الاتاحة: http://hdl.handle.net/11584/310877
https://doi.org/10.1186/s13023-018-0821-7

المؤلفون: Holt, RJ, Young, RM, Crespo, B, Ceroni, F, Curry, CJ, Bellacchio, E, Bax, DA, Ciolfi, A, Simon, M, Fagerberg, CR, van Binsbergen, E, De Luca, A, Memo, L, Dobyns, WB, Mohammed, AA, Clokie, SJH, Zazo Seco, C, Jiang, Y-H, Sørensen, KP, Andersen, H, Sullivan, J, Powis, Z, Chassevent, A, Smith-Hicks, C, Petrovski, S, Antoniadi, T, Shashi, V, Gelb, BD, Wilson, SW, Gerrelli, D, Tartaglia, M, Chassaing, N, Calvas, P, Ragge, NK

المصدر: AJHG , 105 (3) pp. 640-657. (2019)

مصطلحات موضوعية: FBXW11, Noonan syndrome, WD40, Wnt, brain, development, digit, eye, hedgehog, neurodevelopment

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10080239/1/mmc3.pdf; https://discovery.ucl.ac.uk/id/eprint/10080239/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10080239/1/mmc3.pdf
https://discovery.ucl.ac.uk/id/eprint/10080239/

المؤلفون: Vona B, Maroofian R, Bellacchio E, Najafi M, Thompson K, Alahmad A, He L, Ahangari N, Rad A, Shahrokhzadeh S, Bahena P, Mittag F, Traub F, Movaffagh J, Amiri N, Doosti M, Boostani R, Shirzadeh E, Haaf T, Diodato D, Schmidts M, Taylor RW, Karimiani EG

المصدر: BMC Medical Genetics, 12 November 2018

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/253155; https://eprints.ncl.ac.uk/fulltext.aspx?url=253155/00FD4CFE-6BEF-4892-90C8-1AEF8E51989B.pdf&pub_id=253155

الاتاحة: https://eprints.ncl.ac.uk/253155

المؤلفون: Vona, B, Maroofian, R, Bellacchio, E, Najafi, M, Thompson, K, Alahmad, A, He, L, Ahangari, N, Rad, A, Shahrokhzadeh, S, Bahena, P, Mittag, F, Traub, F, Movaffagh, J, Amiri, N, Doosti, M, Boostani, R, Shirzadeh, E, Haaf, T, Diodato, D, Schmidts, M, Taylor, RW, Karimiani, EG

وصف الملف: application/pdf

Relation: https://openaccess.sgul.ac.uk/id/eprint/110408/1/document.pdf; Vona, B; Maroofian, R; Bellacchio, E; Najafi, M; Thompson, K; Alahmad, A; He, L; Ahangari, N; Rad, A; Shahrokhzadeh, S; et al. Vona, B; Maroofian, R; Bellacchio, E; Najafi, M; Thompson, K; Alahmad, A; He, L; Ahangari, N; Rad, A; Shahrokhzadeh, S; Bahena, P; Mittag, F; Traub, F; Movaffagh, J; Amiri, N; Doosti, M; Boostani, R; Shirzadeh, E; Haaf, T; Diodato, D; Schmidts, M; Taylor, RW; Karimiani, EG (2018) Expanding the clinical phenotype of IARS2-related mitochondrial disease. BMC Med Genet, 19 (1). p. 196. ISSN 1471-2350 https://doi.org/10.1186/s12881-018-0709-3 SGUL Authors: Maroofian, Reza

الاتاحة: https://openaccess.sgul.ac.uk/id/eprint/110408/
https://openaccess.sgul.ac.uk/id/eprint/110408/1/document.pdf

المؤلفون: Bruni, F., Meo, I.D., Bellacchio, E., Webb, B.D., McFarland, R., Chrzanowska-Lightowlers, Z.M.A., He, L., Skorupa, E., Moroni, I., Ardissone, A., Walczak, A., Tyynismaa, H., Isohanni, P., Mandel, H., Prokisch, H., Haack, T.B., Bonnen, P.E., Enrico, B., Pronicka, E., Ghezzi, D., Taylor, R.W., Diodato, D.

المصدر: Hum. Mutat. 39, 563-578 (2018)

مصطلحات موضوعية: Cardioencephalomyopathy, Mitochondrial Disorders, Oxphos, Vars2

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/29314548; info:eu-repo/semantics/altIdentifier/wos/WOS:000426727800009; info:eu-repo/semantics/altIdentifier/isbn/1059-7794; info:eu-repo/semantics/altIden; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=52701; urn:isbn:1059-7794; urn:issn:1059-7794; urn:issn:1098-1004

الاتاحة: https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=52701
https://doi.org/10.1002/humu.23398

المؤلفون: Agolini, E., Dentici, M.L., Bellacchio, E., Alesi, V., Radio, F.C., Torella, A., Musacchia, F., Tartaglia, M., Dallapiccola, B., Nigro, V., Digilio, M.C., Novelli, A.

المساهمون: Fondazione Telethon, Ministero della Salute

المصدر: Clinical Genetics ; volume 93, issue 3, page 675-681 ; ISSN 0009-9163 1399-0004

الاتاحة: http://dx.doi.org/10.1111/cge.13137
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fcge.13137
https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13137

المؤلفون: Zheng W-Q, Pedersen SV, Thompson K, Bellacchio E, French CE, Munro B, Pearson TS, Vogt J, Diodato D, Diemer T, Ernst A, Horvath R, Chitre M, Ek J, Wibrand F, Grange DK, Raymond L, Zhou X-L, Taylor RW, Ostergaard E

المصدر: Human Molecular Genetics, 21 February 2022

Relation: https://eprints.ncl.ac.uk/280698

الاتاحة: https://eprints.ncl.ac.uk/280698

المؤلفون: Zanni, G., Kalscheuer, V., Friedrich, A., Barresi, S., Alfieri, P., Di Capua, M., Haas, S., Piccini, G., Karl, T., Klauck, S., Bellacchio, E., Emma, F., Cappa, M., Bertini, E., Breitenbach-Koller, L.

المصدر: Human Mutation

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pissn/1098-1004 (Electronic)1059-7794 (Print); http://hdl.handle.net/11858/00-001M-0000-002A-3548-1; http://hdl.handle.net/11858/00-001M-0000-002A-354A-E

الاتاحة: http://hdl.handle.net/11858/00-001M-0000-002A-3548-1
http://hdl.handle.net/11858/00-001M-0000-002A-354A-E

المؤلفون: Cordeddu V., Macke E. L., Radio F. C., Lo Cicero S., Pantaleoni F., Tatti M., Bellacchio E., Ciolfi A., Agolini E., Bruselles A., Brunetti-Pierri N., Suri M., Josephs K. S., McEntagart M., Lanpher B., Nickels K. C., Haworth A., Reed L., Cappuccio G., Mammi I., Tarnowski J. M., Novelli A., Melis D., Callewaert B., Dallapiccola B., Klee E., Tartaglia M.

المساهمون: Cordeddu, V., Macke, E. L., Radio, F. C., Lo Cicero, S., Pantaleoni, F., Tatti, M., Bellacchio, E., Ciolfi, A., Agolini, E., Bruselles, A., Brunetti-Pierri, N., Suri, M., Josephs, K. S., Mcentagart, M., Lanpher, B., Nickels, K. C., Haworth, A., Reed, L., Cappuccio, G., Mammi, I., Tarnowski, J. M., Novelli, A., Melis, D., Callewaert, B., Dallapiccola, B., Klee, E., Tartaglia, M.

مصطلحات موضوعية: clinical variation, genotype-phenotype correlation, intellectual disability Nascimento type, mutation spectrum, UBE2A

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/32415735; info:eu-repo/semantics/altIdentifier/wos/WOS:000537281100001; firstpage:1; lastpage:7; numberofpages:7; journal:CLINICAL GENETICS; http://hdl.handle.net/11386/4803798; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85085871295

الاتاحة: http://hdl.handle.net/11386/4803798
https://doi.org/10.1111/cge.13775