Bruno Marino
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Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy
B Pandit, A Sarkozy, LA Pennacchio, C Carta, K Oishi, S Martinelli, ...
Nature genetics 39 (8), 1007-1012, 2007
6052007
Inferior vena cava-pulmonary artery extracardiac conduit: a new form of right heart bypass
C Marcelletti, A Como, S Giannico, B Marino
The Journal of thoracic and cardiovascular surgery 100 (2), 228-232, 1990
4781990
Practical guidelines for managing patients with 22q11. 2 deletion syndrome
AS Bassett, DM McDonald-McGinn, K Devriendt, MC Digilio, ...
The Journal of pediatrics 159 (2), 332-339. e1, 2011
4552011
22q11. 2 deletion syndrome
DM McDonald-McGinn, KE Sullivan, B Marino, N Philip, A Swillen, ...
Nature reviews Disease primers 1 (1), 1-19, 2015
4422015
Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene
MC Digilio, E Conti, A Sarkozy, R Mingarelli, T Dottorini, B Marino, ...
The American Journal of Human Genetics 71 (2), 389-394, 2002
3912002
Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects
RN Bamford, E Roessler, RD Burdine, U Şaplakoğlu, J dela Cruz, M Splitt, ...
Nature genetics 26 (3), 365-369, 2000
3132000
Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis
VL Ruiz-Perez, SE Ide, TM Strom, B Lorenz, D Wilson, K Woods, L King, ...
Nature genetics 24 (3), 283-286, 2000
3132000
Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: Molecular diversity and associated phenotypic spectrum
A Sarkozy, C Carta, S Moretti, G Zampino, MC Digilio, F Pantaleoni, ...
Human mutation 30 (4), 695-702, 2009
2622009
Congenital heart diseases in children with Noonan syndrome: an expanded cardiac spectrum with high prevalence of atrioventricular canal
B Marino, MC Digilio, A Toscano, A Giannotti, B Dallapiccola
The Journal of pediatrics 135 (6), 703-706, 1999
2381999
Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome
A Sarkozy, E Conti, MC Digilio, B Marino, E Morini, G Pacileo, M Wilson, ...
Journal of Medical Genetics 41 (5), e68-e68, 2004
1682004
Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes
A Sarkozy, E Conti, D Seripa, MC Digilio, N Grifone, C Tandoi, VM Fazio, ...
Journal of medical genetics 40 (9), 704-708, 2003
1682003
Spectrum of atrial septal defects associated with mutations of NKX2. 5 and GATA4 transcription factors
A Sarkozy, E Conti, C Neri, R d’Agostino, MC Digilio, G Esposito, ...
Journal of medical genetics 42 (2), e16-e16, 2005
1582005
NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome
A De Luca, I Bottillo, A Sarkozy, C Carta, C Neri, E Bellacchio, A Schirinzi, ...
The American Journal of Human Genetics 77 (6), 1092-1101, 2005
1532005
Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot
A Pizzuti, A Sarkozy, AL Newton, E Conti, E Flex, M Cristina Digilio, ...
Human mutation 22 (5), 372-377, 2003
1432003
LEOPARD syndrome: clinical diagnosis in the first year of life
MC Digilio, A Sarkozy, A De Zorzi, G Pacileo, G Limongelli, R Mingarelli, ...
American journal of medical genetics Part A 140 (7), 740-746, 2006
1382006
Anatomic patterns of conotruncal defects associated with deletion 22q11
B Marino, MC Digilio, A Toscano, S Anaclerio, A Giannotti, C Feltri, ...
Genetics in Medicine 3 (1), 45-48, 2001
1382001
Prevalence and clinical significance of cardiovascular abnormalities in patients with the LEOPARD syndrome
G Limongelli, G Pacileo, B Marino, MC Digilio, A Sarkozy, P Elliott, ...
The American journal of cardiology 100 (4), 736-741, 2007
1352007
Atrioventricular canal in Down syndrome: prevalence of associated cardiac malformations compared with patients without Down syndrome
B Marino, U Vairo, A Corno, S Nava, P Guccione, R Calabrˇ, C Marcelletti
American Journal of Diseases of Children 144 (10), 1120-1122, 1990
1341990
Bidirectional cavopulmonary shunts: clinical applications as staged or definitive palliation
E Mazzera, A Corno, S Picardo, R Di Donato, B Marino, D Costa, ...
The Annals of thoracic surgery 47 (3), 415-420, 1989
1331989
Congenital heart disease and genetic syndromes: specific correlation between cardiac phenotype and genotype
B Marino, MC Digilio
Cardiovascular Pathology 9 (6), 303-315, 2000
1322000
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Artikelen 1–20