Brunella Franco, MD
Brunella Franco, MD
Federico II University and Telethon Institute of Genetics and Medicine TIGEM, Naples Italy
Verified email at tigem.it
TitleCited byYear
A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules
B Franco, S Guioli, A Pragliola, B Incerti, B Bardoni, R Tonlorenzi, ...
Nature 353 (6344), 529, 1991
8391991
Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene
AJ Coffey, RA Brooksbank, O Brandau, T Oohashi, GR Howell, JM Bye, ...
Nature genetics 20 (2), 129, 1998
7381998
Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency
V Tiranti, K Hoertnagel, R Carrozzo, C Galimberti, M Munaro, ...
The American Journal of Human Genetics 63 (6), 1609-1621, 1998
5371998
Mutation analysis of the HLA-H gene in Italian hemochromatosis patients.
M Carella, L D'ambrosio, A Totaro, A Grifa, MA Valentino, A Piperno, ...
American journal of human genetics 60 (4), 828, 1997
4081997
Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22
NA Quaderi, S Schweiger, K Gaudenz, B Franco, EI Rugarli, W Berger, ...
Nature genetics 17 (3), 285, 1997
3421997
Identification of the gene for oral-facial-digital type I syndrome
MI Ferrante, SA Feather, A Bulfone, V Wright, M Ghiani, A Selicorni, ...
The American Journal of Human Genetics 68 (3), 569-576, 2001
2892001
A cluster of sulfatase genes on Xp22. 3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy
B Franco, G Meroni, G Parenti, J Levilliers, L Bernard, M Gebbia, L Cox, ...
Cell 81 (1), 15-25, 1995
2821995
Oral-facial-digital type I protein is required for primary cilia formation and left-right axis specification
MI Ferrante, A Zullo, A Barra, S Bimonte, N Messaddeq, M Studer, P Dollé, ...
Nature genetics 38 (1), 112, 2006
2732006
Intragenic deletion of the KALIG-1 gene in Kallmann's syndrome
D Bick, B Franco, RJ Sherins, B Heye, L Pike, J Crawford, A Maddalena, ...
New England Journal of Medicine 326 (26), 1752-1755, 1992
2131992
Autophagy promotes primary ciliogenesis by removing OFD1 from centriolar satellites
Z Tang, MG Lin, TR Stowe, S Chen, M Zhu, T Stearns, B Franco, Q Zhong
Nature 502 (7470), 254, 2013
1792013
Oral–facial–digital syndromes: review and diagnostic guidelines
F Gurrieri, B Franco, H Toriello, G Neri
American Journal of Medical Genetics Part A 143 (24), 3314-3323, 2007
1302007
Identification and characterization of a novel serine–threonine kinase gene from the Xp22 region
E Montini, G Andolfi, A Caruso, G Buchner, SM Walpole, M Mariani, ...
Genomics 51 (3), 427-433, 1998
1161998
A gene from the Xp22. 3 region shares homology with voltage-gated chloride channels
MA Slegtenhorst, M T. Bassl, G Borsanil, MC Wapenaar, GB Ferrero, ...
Human Molecular Genetics 3 (4), 547-552, 1994
1101994
The dynamic cilium in human diseases
A D'Angelo, B Franco
Pathogenetics 2 (1), 1-15, 2009
1062009
A member of a gene family on Xp22. 3, VCX-A, is deleted in patients with X-linked nonspecific mental retardation
M Fukami, S Kirsch, S Schiller, A Richter, V Benes, B Franco, K Muroya, ...
The American Journal of Human Genetics 67 (3), 563-573, 2000
1032000
CDKL5/Stk9 kinase inactivation is associated with neuronal developmental disorders
C Lin, B Franco, MR Rosner
Human molecular genetics 14 (24), 3775-3786, 2005
1002005
OFD1, the gene mutated in oral-facial-digital syndrome type 1, is expressed in the metanephros and in human embryonic renal mesenchymal cells
L Romio, V Wright, K Price, PJD Winyard, D Donnai, ME Porteous, ...
Journal of the American Society of Nephrology 14 (3), 680-689, 2003
912003
X‐linked Opitz syndrome: novel mutations in the MID1 gene and redefinition of the clinical spectrum
F De Falco, S Cainarca, G Andolfi, R Ferrentino, C Berti, ...
American Journal of Medical Genetics Part A 120 (2), 222-228, 2003
902003
An organelle-specific protein landscape identifies novel diseases and molecular mechanisms
K Boldt, J Van Reeuwijk, Q Lu, K Koutroumpas, TMT Nguyen, Y Texier, ...
Nature communications 7, 11491, 2016
882016
Mutations of the Mitochondrial Holocytochrome c–Type Synthase in X-Linked Dominant Microphthalmia with Linear Skin Defects Syndrome
I Wimplinger, M Morleo, G Rosenberger, D Iaconis, U Orth, P Meinecke, ...
The American Journal of Human Genetics 79 (5), 878-889, 2006
882006
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