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Pregled bibliografske jedinice broj: 679566

Rett networked database: An integrated clinical and genetic network of Rett syndrome databases

Grillo, E.; Villard, L.; Clarke, A.; Ben Zeev, B.; Pineda, .M; Bahi-Buisson, . N; Hryniewiecka-Jaworska, A.; Bienvenu, T.; Armstrong, J.; Martinez, A.R. et al.
Rett networked database: An integrated clinical and genetic network of Rett syndrome databases // Human mutation, 33 (2012), 7; 1031-1036 doi:10.1002/humu.22072 (međunarodna recenzija, članak, znanstveni)

CROSBI ID: 679566 Za ispravke kontaktirajte CROSBI podršku putem web obrasca

Naslov
Rett networked database: An integrated clinical and genetic network of Rett syndrome databases

Autori
Grillo, E. ; Villard, L. ; Clarke, A. ; Ben Zeev, B. ; Pineda, .M ; Bahi-Buisson, . N ; Hryniewiecka-Jaworska, A. ; Bienvenu, T. ; Armstrong, J. ; Martinez, A.R. ; Mari, F. ; Veneselli, E. ; Russo, S. ; Vignoli, A. ; Pini, G. ; Đurić, M. ; Bisgaard, A.M. ; Mejaški Bošnjak, Vlatka ; Polgár, N. ; Cogliati, F. ; Ravn, K. ; Pintaudi, M. ; Melegh, B. ; Craiu, D. ; Đukić, A. ; Renieri, A.

Izvornik
Human mutation (1059-7794) 33 (2012), 7; 1031-1036

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
Rett Networked Database; Rett syndrome; MECP2; CDKL5; FOXG1

Sažetak
Rett syndrome (RTT) is a neurodevelopmental disorder with one principal phenotype and several distinct, atypical variants (Zappella, early seizure onset and congenital variants). Mutations in MECP2 are found in most cases of classic RTT but at least two additional genes, CDKL5 and FOXG1, can underlie some (usually variant) cases. There is only limited correlation between genotype and phenotype. The Rett Networked Database (http://www.rettdatabasenetwork.org/) has been established to share clinical and genetic information. Through an “adaptor” process of data harmonization, a set of 293 clinical items and 16 genetic items was generated ; 62 clinical and 7 genetic items constitute the core dataset ; 23 clinical items contain longitudinal information. The database contains information on 1838 patients from 11 countries (December 2011), with or without mutations in known genes. These numbers can expand indefinitely. Data are entered by a clinician in each center who supervises accuracy. This network was constructed to make available pooled international data for the study of RTT natural history and genotype–phenotype correlation and to indicate the proportion of patients with specific clinical features and mutations. We expect that the network will serve for the recruitment of patients into clinical trials and for developing quality measures to drive up standards of medical management.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti



POVEZANOST RADA

Projekti:
072-1081870-0025 - Neurorazvojni ishod djece s intrauterinim zastojem rasta i/ili hipoksijom (Mejaški-Bošnjak, Vlatka, MZOS ) ( CroRIS)

Ustanove:
Klinika za dječje bolesti Medicinskog fakulteta,
Zdravstveno veleučilište, Zagreb

Profili:

Avatar Url Vlatka Mejaški-Bošnjak (autor)

Poveznice na cjeloviti tekst rada:

doi onlinelibrary.wiley.com

Citiraj ovu publikaciju:

Grillo, E.; Villard, L.; Clarke, A.; Ben Zeev, B.; Pineda, .M; Bahi-Buisson, . N; Hryniewiecka-Jaworska, A.; Bienvenu, T.; Armstrong, J.; Martinez, A.R. et al.
Rett networked database: An integrated clinical and genetic network of Rett syndrome databases // Human mutation, 33 (2012), 7; 1031-1036 doi:10.1002/humu.22072 (međunarodna recenzija, članak, znanstveni)
Grillo, E., Villard, L., Clarke, A., Ben Zeev, B., Pineda, M., Bahi-Buisson, N., Hryniewiecka-Jaworska, A., Bienvenu, T., Armstrong, J. & Martinez, A. (2012) Rett networked database: An integrated clinical and genetic network of Rett syndrome databases. Human mutation, 33 (7), 1031-1036 doi:10.1002/humu.22072.
@article{article, author = {Grillo, E. and Villard, L. and Clarke, A. and Ben Zeev, B. and Pineda, .M and Bahi-Buisson, . N and Hryniewiecka-Jaworska, A. and Bienvenu, T. and Armstrong, J. and Martinez, A.R. and Mari, F. and Veneselli, E. and Russo, S. and Vignoli, A. and Pini, G. and \DJuri\'{c}, M. and Bisgaard, A.M. and Meja\v{s}ki Bo\v{s}njak, Vlatka and Polg\'{a}r, N. and Cogliati, F. and Ravn, K. and Pintaudi, M. and Melegh, B. and Craiu, D. and \DJuki\'{c}, A. and Renieri, A.}, year = {2012}, pages = {1031-1036}, DOI = {10.1002/humu.22072}, keywords = {Rett Networked Database, Rett syndrome, MECP2, CDKL5, FOXG1}, journal = {Human mutation}, doi = {10.1002/humu.22072}, volume = {33}, number = {7}, issn = {1059-7794}, title = {Rett networked database: An integrated clinical and genetic network of Rett syndrome databases}, keyword = {Rett Networked Database, Rett syndrome, MECP2, CDKL5, FOXG1} }
@article{article, author = {Grillo, E. and Villard, L. and Clarke, A. and Ben Zeev, B. and Pineda, .M and Bahi-Buisson, . N and Hryniewiecka-Jaworska, A. and Bienvenu, T. and Armstrong, J. and Martinez, A.R. and Mari, F. and Veneselli, E. and Russo, S. and Vignoli, A. and Pini, G. and \DJuri\'{c}, M. and Bisgaard, A.M. and Meja\v{s}ki Bo\v{s}njak, Vlatka and Polg\'{a}r, N. and Cogliati, F. and Ravn, K. and Pintaudi, M. and Melegh, B. and Craiu, D. and \DJuki\'{c}, A. and Renieri, A.}, year = {2012}, pages = {1031-1036}, DOI = {10.1002/humu.22072}, keywords = {Rett Networked Database, Rett syndrome, MECP2, CDKL5, FOXG1}, journal = {Human mutation}, doi = {10.1002/humu.22072}, volume = {33}, number = {7}, issn = {1059-7794}, title = {Rett networked database: An integrated clinical and genetic network of Rett syndrome databases}, keyword = {Rett Networked Database, Rett syndrome, MECP2, CDKL5, FOXG1} }

Časopis indeksira:


  • Current Contents Connect (CCC)
  • Web of Science Core Collection (WoSCC)
    • Science Citation Index Expanded (SCI-EXP)
    • SCI-EXP, SSCI i/ili A&HCI
  • Scopus
  • MEDLINE

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