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Pregled bibliografske jedinice broj: 1181887

A High Frequency of Genomic Disorders in Patients with Congenital Kidney Malformations

Sanna-Cherchi, Simone; Kiryluk, Krzysztof; Burgess, Katelyn E.; Bodria, Monica; Sampson, Matthew G.; Hadley, Dexter; Nees, Shannon N.; Sterken, Roel; Verbitsky, Miguel; Lozanovski, Vladimir J. et al.
A High Frequency of Genomic Disorders in Patients with Congenital Kidney Malformations // PEDIATRIC NEPHROLOGY, 27 (2012), 9; 1621-1622 doi:10.1007/s00467-012-2232-7 (međunarodna recenzija, ostalo, znanstveni)

CROSBI ID: 1181887 Za ispravke kontaktirajte CROSBI podršku putem web obrasca

Naslov
A High Frequency of Genomic Disorders in Patients with Congenital Kidney Malformations

Autori
Sanna-Cherchi, Simone ; Kiryluk, Krzysztof ; Burgess, Katelyn E. ; Bodria, Monica ; Sampson, Matthew G. ; Hadley, Dexter ; Nees, Shannon N. ; Sterken, Roel ; Verbitsky, Miguel ; Lozanovski, Vladimir J. ; Materna-Kiryluk, Anna ; Perry, Brittany J. ; Carrea, Alba ; Murtas, Corrado ; Ristoska-Bojkovska, Nadica ; Zaniew, Marcin ; Flogelova, Hana ; Weng, Patricia L. ; Arapovic, Adela ; Drnasin, Kristina ; Caridi, Gianluca ; Goj, Vinicio ; Lifton, Richard P. ; Saraga, Marijan ; Dominiczak, Anna F. ; Gesualdo, Loreto ; Gucev, Zoran ; Allegri, Landino ; Latos-Bielenska, Anna ; Cusi, Daniele ; Scolari, Francesco ; Tasic, Velibor ; Hakonarson, Hakon ; Ghiggeri, Gian Marco ; Gharavi, Ali G.

Izvornik
PEDIATRIC NEPHROLOGY (0931-041X) 27 (2012), 9; 1621-1622

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

Ključne riječi
Congenital kidney malformations ; Genomic disorders

Sažetak
Up to 16.6 % of patients with congenital kidney defects have a molecular diagnosis attributable to a genomic disorder. A search for genomic structural variantsis indicated in this patient population to diagnose theirspecific genomic disorders, conduct adequate geneticcounseling, and individualize medical care.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti



POVEZANOST RADA

Ustanove:
KBC Split,
Medicinski fakultet, Split

Profili:

Avatar Url Marijan Saraga (autor)

Avatar Url Adela Arapović (autor)

Avatar Url Kristina Drnasin (autor)

Poveznice na cjeloviti tekst rada:

doi link.springer.com

Citiraj ovu publikaciju:

Sanna-Cherchi, Simone; Kiryluk, Krzysztof; Burgess, Katelyn E.; Bodria, Monica; Sampson, Matthew G.; Hadley, Dexter; Nees, Shannon N.; Sterken, Roel; Verbitsky, Miguel; Lozanovski, Vladimir J. et al.
A High Frequency of Genomic Disorders in Patients with Congenital Kidney Malformations // PEDIATRIC NEPHROLOGY, 27 (2012), 9; 1621-1622 doi:10.1007/s00467-012-2232-7 (međunarodna recenzija, ostalo, znanstveni)
Sanna-Cherchi, S., Kiryluk, K., Burgess, K., Bodria, M., Sampson, M., Hadley, D., Nees, S., Sterken, R., Verbitsky, M. & Lozanovski, V. (2012) A High Frequency of Genomic Disorders in Patients with Congenital Kidney Malformations. PEDIATRIC NEPHROLOGY, 27 (9), 1621-1622 doi:10.1007/s00467-012-2232-7.
@article{article, author = {Sanna-Cherchi, Simone and Kiryluk, Krzysztof and Burgess, Katelyn E. and Bodria, Monica and Sampson, Matthew G. and Hadley, Dexter and Nees, Shannon N. and Sterken, Roel and Verbitsky, Miguel and Lozanovski, Vladimir J. and Materna-Kiryluk, Anna and Perry, Brittany J. and Carrea, Alba and Murtas, Corrado and Ristoska-Bojkovska, Nadica and Zaniew, Marcin and Flogelova, Hana and Weng, Patricia L. and Arapovic, Adela and Drnasin, Kristina and Caridi, Gianluca and Goj, Vinicio and Lifton, Richard P. and Saraga, Marijan and Dominiczak, Anna F. and Gesualdo, Loreto and Gucev, Zoran and Allegri, Landino and Latos-Bielenska, Anna and Cusi, Daniele and Scolari, Francesco and Tasic, Velibor and Hakonarson, Hakon and Ghiggeri, Gian Marco and Gharavi, Ali G.}, year = {2012}, pages = {1621-1622}, DOI = {10.1007/s00467-012-2232-7}, keywords = {Congenital kidney malformations, Genomic disorders}, journal = {PEDIATRIC NEPHROLOGY}, doi = {10.1007/s00467-012-2232-7}, volume = {27}, number = {9}, issn = {0931-041X}, title = {A High Frequency of Genomic Disorders in Patients with Congenital Kidney Malformations}, keyword = {Congenital kidney malformations, Genomic disorders} }
@article{article, author = {Sanna-Cherchi, Simone and Kiryluk, Krzysztof and Burgess, Katelyn E. and Bodria, Monica and Sampson, Matthew G. and Hadley, Dexter and Nees, Shannon N. and Sterken, Roel and Verbitsky, Miguel and Lozanovski, Vladimir J. and Materna-Kiryluk, Anna and Perry, Brittany J. and Carrea, Alba and Murtas, Corrado and Ristoska-Bojkovska, Nadica and Zaniew, Marcin and Flogelova, Hana and Weng, Patricia L. and Arapovic, Adela and Drnasin, Kristina and Caridi, Gianluca and Goj, Vinicio and Lifton, Richard P. and Saraga, Marijan and Dominiczak, Anna F. and Gesualdo, Loreto and Gucev, Zoran and Allegri, Landino and Latos-Bielenska, Anna and Cusi, Daniele and Scolari, Francesco and Tasic, Velibor and Hakonarson, Hakon and Ghiggeri, Gian Marco and Gharavi, Ali G.}, year = {2012}, pages = {1621-1622}, DOI = {10.1007/s00467-012-2232-7}, keywords = {Congenital kidney malformations, Genomic disorders}, journal = {PEDIATRIC NEPHROLOGY}, doi = {10.1007/s00467-012-2232-7}, volume = {27}, number = {9}, issn = {0931-041X}, title = {A High Frequency of Genomic Disorders in Patients with Congenital Kidney Malformations}, keyword = {Congenital kidney malformations, Genomic disorders} }

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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