Corrado Romano
Corrado Romano
Director, Pediatrics & Medical Genetics, IRCCS Associazione Oasi Maria Santissima, Troina, Italy
Geverifieerd e-mailadres voor oasi.en.it - Homepage
TitelGeciteerd doorJaar
Recurrent rearrangements of chromosome 1q21. 1 and variable pediatric phenotypes
HC Mefford, AJ Sharp, C Baker, A Itsara, Z Jiang, K Buysse, S Huang, ...
New England Journal of Medicine 359 (16), 1685-1699, 2008
6662008
PTEN Mutation Spectrum and Genotype-Phenotype Correlations in Bannayan-Riley-Ruvalcaba Syndrome Suggest a Single Entity With Cowden Syndrome
DJ Marsh, JB Kum, KL Lunetta, MJ Bennett, RJ Gorlin, SF Ahmed, ...
Human molecular genetics 8 (8), 1461-1472, 1999
5581999
15q13. 3 microdeletions increase risk of idiopathic generalized epilepsy
I Helbig, HC Mefford, AJ Sharp, M Guipponi, M Fichera, A Franke, ...
Nature genetics 41 (2), 160, 2009
5232009
A recurrent 15q13. 3 microdeletion syndrome associated with mental retardation and seizures
AJ Sharp, HC Mefford, K Li, C Baker, C Skinner, RE Stevenson, ...
Nature genetics 40 (3), 322, 2008
5202008
A recurrent 16p12. 1 microdeletion supports a two-hit model for severe developmental delay
S Girirajan, JA Rosenfeld, GM Cooper, F Antonacci, P Siswara, A Itsara, ...
Nature genetics 42 (3), 203, 2010
5032010
A new chromosome 17q21. 31 microdeletion syndrome associated with a common inversion polymorphism
DA Koolen, LELM Vissers, R Pfundt, N De Leeuw, SJL Knight, R Regan, ...
Nature genetics 38 (9), 999, 2006
4122006
Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development
R Bernier, C Golzio, B Xiong, HA Stessman, BP Coe, O Penn, ...
Cell 158 (2), 263-276, 2014
3782014
Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome
EM Valente, JL Silhavy, F Brancati, G Barrano, SR Krishnaswami, ...
Nature genetics 38 (6), 623, 2006
3572006
Refining analyses of copy number variation identifies specific genes associated with developmental delay
BP Coe, K Witherspoon, JA Rosenfeld, BWM Van Bon, ...
Nature genetics 46 (10), 1063, 2014
3092014
Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 patients
M De Gregori, R Ciccone, P Magini, T Pramparo, S Gimelli, J Messa, ...
Journal of medical genetics 44 (12), 750-762, 2007
2832007
Relative burden of large CNVs on a range of neurodevelopmental phenotypes
S Girirajan, Z Brkanac, BP Coe, C Baker, L Vives, TH Vu, N Shafer, ...
PLoS genetics 7 (11), e1002334, 2011
2402011
Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome
BWM Van Bon, HC Mefford, B Menten, DA Koolen, AJ Sharp, ...
Journal of medical genetics 46 (8), 511-523, 2009
2342009
Prevalence of methylenetetrahydrofolate reductase 677T and 1298C alleles and folate status: a comparative study in Mexican, West African, and European …
RM Guéant-Rodriguez, JL Guéant, R Debard, S Thirion, LX Hong, ...
The American journal of clinical nutrition 83 (3), 701-707, 2006
2292006
Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation
A Battaglia, HE Hoyme, B Dallapiccola, E Zackai, L Hudgins, ...
Pediatrics 121 (2), 404-410, 2008
2202008
Cardiovascular malformations and other cardiovascular abnormalities in neurofibromatosis 1
AE Lin, PH Birch, BR Korf, R Tenconi, M Niimura, M Poyhonen, ...
American journal of medical genetics 95 (2), 108-117, 2000
1952000
Sulphation deficit in “low-functioning” autistic children: a pilot study
A Alberti, P Pirrone, M Elia, RH Waring, C Romano
Biological psychiatry 46 (3), 420-424, 1999
1951999
Methionine synthase (MTR) 2756 (A→ G) polymorphism, double heterozygosity methionine synthase 2756 AG/methionine synthase reductase (MTRR) 66 AG, and elevated homocysteinemia …
P Bosco, RM Guéant‐Rodriguez, G Anello, C Barone, F Namour, F Caraci, ...
American Journal of Medical Genetics Part A 121 (3), 219-224, 2003
1942003
A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP
C Helsmoortel, AT Vulto-van Silfhout, BP Coe, G Vandeweyer, L Rooms, ...
Nature genetics 46 (4), 380, 2014
1772014
Fourteen new cases contribute to the characterization of the 7q11. 23 microduplication syndrome
N Van der Aa, L Rooms, G Vandeweyer, J van den Ende, E Reyniers, ...
European journal of medical genetics 52 (2-3), 94-100, 2009
1672009
Prevalence and clinical picture of celiac disease in Italian Down syndrome patients: a multicenter study
M Bonamico, P Mariani, HM Danesi, M Crisogianni, P Failla, G Gemme, ...
Journal of pediatric gastroenterology and nutrition 33 (2), 139-143, 2001
1612001
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Artikelen 1–20