Download pubblicazioni - Docenti.unina

PUBBLICAZIONI
1. P.I. Patel, D.H. Ledbetter, S. Frances, B. Franco, M.R. Wallace, F.S. Collins, J.R.
Lupski. Isolation of a polymorphic DNA sequence (LL101) from the short arm of
chromosome17 [D17S251]. Nucleic Acids Research 18: 1087, 1990.
2. P.I. Patel, B. Franco, C. Garcia, S. Slaugenhaupt, Y. Nakamura, D.H. Ledbetter, A.
Chakravarti, J.R. Lupski. Genetic mapping of autosomal dominant Charcot-Marie-Tooth
disease in a large French-Acadian kindred: Identification of new linked markers on
chromosome 17. American Journal of Human Genetics 46: 801-809, 1990.
3. P.I. Patel, C. Garcia, R. Malamut, B. Franco, S. Slaugenhaupt, A. Chakravarti, J.R.
Lupski. Isolation of a marker linked to the Charcot-Marie-Tooth disease type 1A gene by
differential Alu PCR of human chromosome 17-retaining hybrids.
American Journal of Human Genetics 47: 926-934, 1990.
4. B. Franco, D-R. Limas, Y. Nakamura, P.I. Patel, J.R. Lupski. Identification of MspI
RFLPs at the D17S258 locus. Nucleic Acids Research Vol 18, No 23, p. 7196, 1990.
5. B. Franco, Li-Wen-Lai, D. Patterson, D.H. Ledbetter, B. Trask, G. Van Den Engh, S.
Iannaccone, S. Frances, P.I. Patel, J.R. Lupski. Molecular Characterization of a 1q
monosomy patient with del(1)(q23-q25). Human Genetics 87:269-277,1991.
6. B. Franco, S. Guioli, A. Pragliola, B. Incerti, B. Bardoni, R. Tonlorenzi, R. Carrozzo,
E. Maestrini, M. Pieretti, P. Taillon-Miller, C-J Brown, H.F. Willard, C. Lawrence, M.G.
Persico, G. Camerino, A. Ballabio. A gene deleted in kallmann's syndrome shares
homology with neural cell adhesion and axonal path-finding molecules. Nature 353: 529536, 1991.
7. V. Guzzetta, B. Franco, H. Zhang, O. Saucedo-Cardenas, R. Montes de Oca-Luna, F.
Greenberg, A.C. Chinault, J.R. Lupski, P.I. Patel. "Somatic cell hybrids, sequence tagged
sites, simple repeat polymorphisms and yeast artificial chromosomes for physical and
genetic mapping of proximal 17p. Genomics 13:551-559,1992.
8. D. Bick, B. Franco, R.J. Sherins, B. Heye, L. Pike, J. Crawford, A. Maddalena, B.
Incerti, A. Pragliola, T. Meitinger, A. Ballabio. Brief report: intragenic deletion of the
Kalig-1 gene in Kallmann's syndrome. New England Journal of Medicine 326: 17521755, 1992.
9. S. Guioli, B. Incerti, E. Zanaria, B. Bardoni, B. Franco, K. Taylor, A. Ballabio and G.
Camerino. Kallmann syndrome due to a translocation resulting in an X/Y fusion gene.
Nature Genetics Vol 1(5): 337-340, 1992.
10. B. Incerti, S. Guioli, A. Pragliola, E. Zanaria, G. Borsani, R. Tonlorenzi, B. Bardoni,
B. Franco, D. Wheeler, A. Ballabio and G. Camerino. The Kallmann syndrome gene on
the X and Y chromosomes: implications for the evolutionary divergence of human sex
chromosomes.Nature Genetics (2):311-314, 1992.
11. M.A. van Slegtenhorst, M.T. Bassi, G. Borsani, M. Wapenaar, G.B. Ferrero, L. De
Conciliis, E.I. Rugarli, A. Grillo, B. Franco, H.Y. Zoghbi and A. Ballabio. A gene from
the Xp22.3 region shares homology with voltage-gated chloride channels.
Human Molecular Genetics, Vol 3 (4): 547-552, 1994.
12. G. Parenti, M.G. Rizzolo, M. Ghezzi, S. Di Maio, M.P. Sperandeo, B. Incerti, B.
Franco, A. Ballabio, G. Andria. Variable penetrance of hypogonadism in a sibship with
Kallmann syndrome due to a deletion of the KAL gene. American Journal of Medical
Genetics, 57:476-478, 1995.
13. I. Wang, B. Franco, G.B. Ferrero, A.C. Chinault, J. Weissenbach, I. Chumakov, D.
Le Paslier, J. Levilliers, A. Klink, G. Rappold, A. Ballabio and C. Petit. Mapping and
cloning of the critical region for X-linked recessive chondrodysplasia punctata.
Genomics, 26: 229-238, 1995.
14. B. Franco, G. Meroni, G. Parenti, J. Levilliers, L. Bernard, M. Gebbia, L. Cox, P.
Maroteaux, L. Sheffield, G.A. Rappold, G. Andria, C. Petit and A. Ballabio. A cluster of
Sulfatase genes on Xp22.3: Mutations in Chondrodysplasia punctata (CDPX) and
implications for Warfarin embryopathy. Cell, 81: 15-25, 1995.
15. IE. Rugarli, D.A. Adler, G. Borsani, K. Tsuchiya, B. Franco, X. Hauge, C. Disteche,
V. Chapman, and A. Ballabio. Different chromosomal loclization of the Clcn4 gene in
Mus spretus and C57BL/65 mice.
Nature Genetics 10: 466-471, 1995.
16. G.B. Ferrero, B. Franco, B.A. Firulli, E.J. Roth, G. Borsani, J. Weissenbach, D.
Schlessinger, A.C. Chinault, H.Y. Zoghbi, D.L. Nelson and A. Ballabio. An Integrated
physical and genetic map of a 35 Mb region on chromosome Xp22.3-Xp21.3. Human
Molecular Genetics 4(10):1821-1827, 1995.
17. G. Meroni, B. Franco, N. Archidiacono, S. Messali, G. Andolfi, M. Rocchi, A.
Ballabio. Characterization of a cluster of sulfatases genes on Xp22.3 suggests gene
duplications in an ancestral pseudoautosomal region. Human Molecular Genetics 5(4):
423-431, 1996.
18. K. Muroya, T. Ogata, N. Matsuo, T. Nagai, B. Franco, A. Ballabio, G. Rappold, N.
Sakura, and Y. Fukushima. Mental retardation in a boy with an interstitial deletion at
Xp22.3 involving STS, KAL1, and OA1: Implication for the MRX locus.
American Journal of Medical Genetics 64:583-587, 1996.
19. P. Malaspina, A. Roetto, F. Trettel, C. Iodice, P. Blasi, M. Frontali, M. Carella, B.
Franco, C. Camaschella, and A. Novelletto. Construction of a YAC contig covering
human chromosome 6p22. Genomics 36:399, 1996.
20. M. Carella, L. D’Ambrosio, A. Totaro, A. Grifa, M.A. Valentino, A. Piperno, D.
Girelli, A. Roetto, B. Franco, P. Gasparini, C. Camaschella. Mutation analysis of the
HLA-H gene in Italian Hemochromatosis patients. American Journal of Human Genetics
60(4): 828-832, 1997.
21. A.A. Puca, M. Zollo, M. Repetto, A. Guffanti, G. Simon, A. Ballabio, and B. Franco.
Identification by shotgun sequencing, genomic organization, and functional analysis of a
fourth arylsulphatase gene (ARSF) from the Xp22.3 region. Genomics Vol. 42:192-199,
1997.
22. E. Montini, E.I. Rugarli, E. van de Vosse, G. Andolfi, M. Mariani, A.A. Puca, G.G.
Consales, J.T. den Dunnen, A. Ballabio and B. Franco. A novel human serine-threonine
phosphatase related to the Drosophila retinal degeneration C (rdgC) gene selectively
expressed in sensory neurons of neural crest origin. Human Molecular Genetics Vol.6, n
7:1137-1145, 1997.
23. E. van de Vosse, B. Franco, P. van der Brent, E. Montini, U. Orth, A. Hanauer, N.
Tijmes, G-J. van Ommen, A. Ballabio, J.T. den Dunnen, A.A. Bergen. Exclusion of the
PPEF gene as the gene causing X-linked juvenile Retinoschisis. Human Genetics
101:235-237, 1997.
24. G. Parenti, P. Buttitta, G. Meroni, B. Franco, L. Bernard, M.G. Rizzolo, N. BrunettiPierri, A. Ballabio, G. Andria. X-linked recessive chondrodysplasia punctata due to a
new point mutation of the ARSE gene. American Journal of Medical Genetics Vol.
73(2):139-143, 1997.
25. N. Quaderi, S. Schweiger, K. Gaudenz, B. Franco, E. Rugarli, W. Berger, G.
Feldman, M. Volta, G. Andolfi, S. Gilgenkrantz, R. Marion, R.C.M. Hennekam, J.M.
Opitz, M. Muenke, H.H. Ropers, A. Ballabio. Opitz G/BBB syndrome a defect of midline
development, is due to mutations in a new RING finger gene on Xp22. Nature Genetics,
Vol. 17:285-291, 1997.
26. M. Rocchigiani, M. Lestigi, A. Luddi, M. Orlandini, B. Franco, E. Rossi, A.
Ballabio, O. Zuffardi, S. Oliviero. Human FIGF:Cloning, gene structure, and mapping to
chromosome Xp22.1 between the PIGA and the GRPR genes. Genomics Vol. 47: 207216, 1998.
27. A.A. Puca, V. Nigro, G. Piluso, A. Belsito, S. Sampaolo, N. Quaderi, E. Rossi, G. Di
Iorio, A. Ballabio, B. Franco. Identification and characterization of a novel member of
the Dystrobrevin gene family. Febs Letters, 425: 7-13, 1998.
28. A. Petrella, I. Doti, V. Agosti, P. Caradente Giarrusso, D. Vitale, H.M. Bond, C.
Cuomo, V. Barbieri, B. Franco, A. Ballabio, S. Venuta, G. Morrone. A 5' regulatory
sequence containing two Ets motifs controls the expression of the Wiskott-Aldrich
syndrome protein (WASP). Blood, Vol. 91 n 12: 4554-4560, 1998.
29. A. Totaro, A. Roetto, J. Rommens, A. Grifa, M. Carella, L. D’Agruma. M.A.
Valentino, J.J. Huizenga, C. Camaschella, B. Franco, P. Gasparini. Generation of a
Transcription map of a 1 Mbase region containing the HLA-H gene (6p22).
European Journal of Human Genetics Vol. 6 (2): 105-113, 1998.
30. The Retinoschisis Consortium. Group 2: G. Andolfi, E. Montini, Y. Li, C. Oudet, H.
Bolz, J. Kaplan, U. Orth, A. Gal, A. Hanauer, A-M. Bardelli, C. Ayuso, P. Bitoun, V.
Ventruto, B. Dallapiccola, A. Ballabio and B. Franco. Functional implications of the
spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis (XLRS).
Human Molecular Genetics, Vol. 7 (7): 1185-1192, 1998.
31. L. de Conciliis, A. Marchitiello, M.C. Wapenaar, G. Borsani, S. Giglio, M. Mariani,
G.G. Consalez, O. Zuffardi, B. Franco, A. Ballabio and S. Banfi.
Characterization of
Cxorf5 (71-7A), a novel human cDNA mapping to Xp22 and encoding a protein
containing coiled-coil alpha-helical domains. Genomics Vol. 51:243-250, 1998.
32. K. Gaudenz, E. Roessler, N. Quaderi, B. Franco, G. Feldman, D. Gasser, B. Wittwer,
E. Montini, J.M. Opitz, A. Ballabio, M. Muenke. Opitz G/BBB syndrome in Xp22:
mutations in the MID1 gene cluster in the carboxy-terminal domain.
American Journal of Human Genetics Vol. 63 (3): 703-710, 1998.
33. E. Montini, G. Andolfi, A. Caruso, G. Buchner, S.M. Walpole, M. Mariani, G.G.
Consalez, D. Trump, A. Ballabio, B. Franco. Identification and characterization of a
novel serine-threonine kinase gene from the Xp22 region. Genomics, Vol. 51, n 3: 427433, 1998.
34. A.J. Coffey, R.A. Brooksbank, O. Brandau, T. Oohasai, G.R. Howell, J.M. Bye, A.P.
Cahn, J. Durham, P. Heath, P. Wray, R. Pavitt, J. Wilkinson, M. Leversha, E. Huckle,
C.J. Shaw-Smith, A. Dunham, S. Rhodes, V. Schuster, G. Porta, L. Yin, P. Serafini, B.
Sylla, M. Zollo, B. Franco, A. Bolino, M. Seri, A. Lanyi, J.R. Davis, D. Webster, A.
Harris, G. Lenoir, G. de St Basile, A. Jones, B.H. Behloradsky, H. Achatz, J. Murken, R.
Faessler, J. Sumegi, G. Romeo, M.Vaudin, M.T. Ross, A. Meindl & D.R. Bentley. The
aberrant host response to EBV infection in X-linked Lymphoproliferative disease results
from mutations in a novel SH2-domain encoding gene. Nature Genetics, 20:129-135,
1998.
35. A. Bolino, L. Yi, M. Seri, R. Cusano, R. Cinti, A. Coffey, R. Brooksbank, G. Howell,
D. Bentley, JR. Davis, A. Lanyi, D. Huang, M. Stark, M. Creaven, L. Bjørkhaug, F.
Heitzmann, J. Lamartine, S. Gaudi, BS. Sylla, G.M. Lenoir, E. Castagnola, R. Giacchino,
G. Porta, B. Franco, M. Zollo, J. Sumegi, G. Romeo. A new candidate region for the
positional cloning of the XLP gene. European Journal of Human Genetics, Vol. 6
(5):509-517, 1998.
36. V. Tiranti, K. Hoertnagel, R. Carrozzo, C. Galimberti, M. Munaro, M. Granatiero, L.
Zelante, P. Gasparini, R. Marzella, M. Rocchi, M. Pilar Bayona-Bafaluy, A. Enriquez, G.
Uziel, E. Bertini, C. Dionisi-Vici, B. Franco, T. Meitinger, and M. Zeviani. Mutations of
SURF-1 in Leigh Disease associated with cytochrome c oxidase deficiency. American
Journal of Human Genetics, 63(6):1609-21,1998
37. M. Volta, A. Bulfone, C. Gattuso, E. Rossi, M. Mariani, G.G. Consales, O. Zuffardi,
A. Ballabio, S. Banfi, B. Franco. Identification and characterization of CDS2, a
Mammalian homolog of the Drosophila CDP diacylglycerol synthase (CDS) gene.
Genomics, Vol. 55 n 1: 68-77, 1999.
38. F. Vitelli, M. Piccini, F. Caroli, B. Franco, A. Malandrini, B. Pober, J. Jonsson, V.
Sorrentino, A Renieri. Identification and characterization of a highly conserved protein
absent in the Alport S. (A), Mental retardation (M), Midface hypoplasia (M) and
Elliptocytosis (E) contiguous gene deletion syndrome. Genomics, Vol. 55 n 3: 335-340,
1999.
39. S. Banfi, M.T. Bassi, G. Andolfi, A. Marchitiello, S. Zanotta, A. Ballabio, G. Casari,
B. Franco. Identification and characterization of AFG3L2, a novel paraplegin-related
gene. Genomics, Vol. 59 n1:51-8, 1999.
40. S.K. Prakash, I.B. Van den Veyver, B. Franco, M. Volta, A. Ballabio and H.Y.
Zoghbi. Characterization of a novel chromo domain gene in Xp22.3 with homology to
Drosophila msl-3. Genomics, Vol. 59 n1:77-84, 1999.
41. E. Montini, G. Buchner, C. Spalluto, G. Andolfi, A. Caruso, J.T. den Dunnen, D.
Trump, M. Rocchi, A. Ballabio, B. Franco. Identification of SCML2, a second human
gene homologous to the Drosophila Sex comb on midleg (Scm): a new gene cluster in
Xp22. Genomics, 58: 65-72, 1999.
42. G. Buchner, E. Montini, G. Andolfi, N. Quaderi, S. Cainarca, S. Messali, M.T. Bassi,
A. Ballabio, G. Meroni, B. Franco. MID2, a homolog of the Opitz syndrome gene
MID1: similarities in subcellular localization and differences in expression during
development. Human Molecular Genetics, 8 (8):1397-407, 1999.
43. W. Ahmad, M. De Fusco, M. Faiyaz ul Haque, P. Aridon, T. Sarno, S. ul Haque, M.
Ahmad, A. Ballabio, B. Franco, G. Casari. Linkage mapping of a new syndromic form
of X-linked mental retardation associated to obesity. European Journal of Human
Genetics, Vol. 7 n 7:828-32, 1999.
44. G. Buchner, M.T. Bassi, G. Andolfi, A. Ballabio, B. Franco. Identification of a novel
homolog of the Drosophila staufen protein in the chromosome 8q13-8q21.1 region.
Genomics, Vol. 62 n 1:113-8, 1999.
45. G. Buchner, U. Orfanelli, N. Quaderi, M. T. Bassi, G. Andolfi, A. Ballabio, B.
Franco. Identification of a new EGF-repeat containing gene from human Xp22: a
candidate for developmental disorders. Genomics, Vol. 65 n1:16-23, 2000.
46. M. Fukami, S. Kirsch, S. Schiller, A. Richter, V. Benes, B. Franco, K. Muroya, E.
Rao, S. Merker, B. Niesler, A. Ballabio, W. Ansorge, T. Ogata, G.A. Rappold.
A Member of a Gene Family on Xp22.3, VCX-A, Is Deleted in Patients with X-Linked
Nonspecific Mental Retardation. American Journal of Human Genetics, Vol. 67 n 3:563573, 2000.
47. G. Buchner, V. Broccoli, A. Bulfone, U. Orfanelli, C. Gattuso, A. Ballabio, B.
Franco. MAEG, an EGF-repeat containing gene, is a new marker associated with
dermatome specification and morphogenesis of its derivatives. Mechanism of
development, Vol. 98 n 1-2:179-82, 2000.
48. M.I. Ferrante, G. Giorgio, S.A. Feather, A. Bulfone, V. Wright, M. Ghiani, A.
Selicorni, L. Gammaro, F Scolari, A. S. Woolf, O. Sylvie, B. Le Marec, S. Malcolm, R.
Winter, A. Ballabio, B. Franco. Identification of the gene for Oral-facial-digital type I
syndrome (OFD1). American Journal of Human Genetics, Vol. 68:569-576, 2001.
49. W. Ahmad, S. Noci, M. Faiyaz ul Haque, T. Sarno, P. Aridon, M. Maqhool Ahmad,
M. Amin-ud-din, Muhammad Arshad Rafiq, Saeed ul Haque, M. De Fusco, A. Ballabio,
B. Franco, G Casari. Linkage mapping of a non specific form of X-linked mental
retardation (MRX53) in a large pakistani family. American Journal of Medical Genetics,
Vol. 100 (1):62-5, 2001.
50. R. Zannolli, R. Mostardini, L. Pucci, L. Sorrentino, M. Biagioli, R. Perotti, M.
Guarna, T. Hadjistilianou, G. Zerega, M. Pierluigi, B. Franco, A. D'Ambrosio, G.
Morgese. Corpus callosum agenesis, multiple cysts, skin defects and subtle ocular
abnormalities with a de novo mutation [45,XX,der(5), t(5;14) (pter;q11.2)]. American
Journal of Medical Genetics, Vol. 102 (1):29-35, 2001.
51. M.I. Ferrante, M. Ghiani, A. Bulfone, B. Franco. IL1RAPL2 maps to Xq22 and is
specifically expressed in the central nervous system. Gene, Vol. 275 n 2: 217-21, 2001.
52. G.B. Ferrero, M. Valenzise, B. Franco, C. Defilippi, C. Gregato, G. Corsello, E.
Pepe, M. Silengo. Oral, Facial, Digital Vertebral anomalies with psychomotor delay: a
mild form of OFD type Gabrielli?. American Journal of Medical Genetics,
Vol.113(3):291-4, 2002.
53. A. Toutain, B. Dessay, N. Ronce, M. Ferrante, J. Tranchemontagne, R. NewburyEcob, C. Wallgren-Pettersson, J. Burn, J. Kaplan, A. Rossi, S. Russo, I. Walpole, J.
Hartsfiel, N. Oyen, A. Nemeth, P. Bitoun, D. Trump, C. Moraine, B. Franco. Refinement
of the NHS locus on chromosome Xp22.13 and analysis of five candidate genes.
European Journal Human Genetics , Vol.10(9):516-20, 2002.
54. L. Romio, V. Wright, K. Price, P.D.J. Winyard, D. Donnai, E.M. Porteous, B.
Franco, G. Giorgio, S. Malcom, A.S. Woolf, S.A Feather. OFDI, the gene mutated in
Oral-Facial-Digital syndrome type 1, codes for a metanephic mesenchymal protein.
Journal of the American Society of Nephrology, Vol.14 (3):680-9, 2003.
55. M.I. Ferrante, A. Barra, J-P. Truong, C.M. Disteche, S. Banfi, B. Franco.
Characterization of the OFD1/Ofd1 genes on the human and mouse sex chromosomes
and exclusion of Ofd1 for the Xpl mouse mutant. Genomics, Vol. 81 n 6:560-9, 2003.
56. F. De Falco, S. Cainarca, G. Andolfi, R. Ferrentino, C. Berti, G. Rodríguez Criado, O.
Rittinger, R. Dennis, S. Odent, A. Rastogi, J. Liebelt, D. Chitayat, R. Winter, H.
Jawanda, A. Ballabio, B. Franco, G. Meroni. X-linked Opitz syndrome: novel mutations
in the MID1 gene and redefinition of the clinical spectrum. American Journal of Medical
Genetics, Vol. 120A(2): 222-8, 2003.
57. I. Wieland, R. Reardon, S. Jakubiczka, B. Franco, W. Kress, C. Vincent-Delorme, P.
Thierry, M. Edwards, R. Konig, C. Rusu, S. Schweiger, E. Thompson, S. Tinschert, F.
Stewart, P. Wieacker. Twenty-six novel EFNB1 mutations in familial and sporadic
craniofrontonasal syndrome (CFNS). Human Mutation, Vol. 26(2):113-8, 2005.
58. M. Morleo, T. Pramparo, L. Perone, G. Gregato, C. Le Caignec, R. F Mueller, T.
Ogata, A. Raas-Rothschild, M. Christine de Blois, L. C Wilson, G. Zaidman, O. Zuffardi,
A. Ballabio, B. Franco. Microphthalmia with Linear Skin defects (MLS) syndrome:
clinical, cytogenetic and molecular characterization of 11 cases. American Journal of
Medical Genetics, Vol. 137(2):190-8, 2005.
59. G. Gerlitz, E. Darhin, G. Giorgio, B. Franco, O. Reiner. Novel functional features of
the LIS-H domain: role in protein dimerization, half-life and cellular localization. Cell
cycle, Vol. 4(11):1632-40, 2005.
60. C. Lin, M. Abe, B. Franco, M.R. Rosner. CDKL5/Stk9 Kinase Inactivation is
Associated with Neuronal Developmental Disorders. Human Molecular Genetics, Vol.
14(24): 3775-86, 2005.
61. M.I. Ferrante, A. Zullo, A. Barra, S. Bimonte, N. Messaddeq, M. Studer, P. Dollé &
B. Franco. The Oral-Facial-Digital Type I protein is required for primary cilia formation
and for left-right axis specification. Nature Genetics, Vol. 38(1):112-7, 2006.
62. O. Toprak, A. Uzum, M. Cirit, E. Esi, A. Inci, R. Ersoy, M. Tanrisev, E. Ok, B.
Franco. Oral-facial-digital syndrome type 1, Caroli's disease and cystic renal disease.
Nephrology Dialysis Transplantation, Vol. 21:1705-1709, 2006.
63. B. Franco and A. Ballabio, X-inactivation and human diseases: X-linked dominant
male-lethal disorders. Current Opinion in Genetics and Development, Vol. 16:254-9,
2006.
64. I. Wimplinger, M. Morleo, G. Rosenberger, D. Iaconis, U. Orth, P. Meinecke, I.
Lerer, A. Ballabio, A. Gal, B. Franco and K. Kutsche. Mutations of the mitochondrial
holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin
defects (MLS) syndrome. American Journal of Human Genetics, Vol. 79 (5):8 78-89,
2006.
65. A. Baroncini, P Castelluccio, M. Morleo, F. Soli, B. Franco. Terminal Osseous
Dysplasia with Pigmentary Defects: Clinical Description of a New Family. American
Journal of Medical Genetics, 1;143(1):51-7, 2007.
66. F. Gurrieri, B. Franco, H. Toriello, G. Neri. Oral -facial-digital syndromes: a review
and diagnostic guidelines. American Journal of Medical Genetics, 143(24):3314-23,
2007.
67. G. Giorgio, M Alfieri, C Prattichizzo, A Zullo, S Cairo, B. Franco. Functional
characterization of the OFD1 protein reveals a nuclear localization and physical
interaction with subunits of a chromatin-remodeling complex. Molecular Biology of the
cell, 18(11):4397-404, 2007.
68. M. Romero, B. Franco, J. Sanchez del Pozo, A. Romance. Buccal Anomalies,
Cephalometric Analysis and Genetic Study of Two Sisters With Orofaciodigital yndrome
Type I. Cleft Palate–Craniofacial Journal, 44(6):660-6, 2007.
69. M. Morleo, B. Franco. Dosage compensation of the mammalian X chromosome
influences the phenotypic variability of X-linked dominant male-lethal disorders. Journal
of Medical Genetics, In press, 2008.
Pubblicazioni su riviste senza IF
2. M. Morleo, D. Iaconis, D. Chitayat, I. Peluso, R. Marzella, A. Renieri, F. Mari, B.
Franco. Disruption of the IQSEC2 transcript in a female with X;autosome translocation
t(X;20)(p11.2;q11.2) and a phenotype resembling X-linked infantile spasms (ISSX)
syndrome. Molecular Medicine Reports. 1:33-39, 2008
Capitoli su invito e publicazioni su riviste italiane
E. Del Giudice, L. Greco, G. Abignente, A. Romano, F. Latte, B. Franco, G. Gentile, P.
Parisi, R. Scorcia. "Una proposta di valutazione dello sviluppo infantile/A model for the
assessment of the infantile development". Medico e bambino, 8: 53-60, 1988.
B. Franco and A. Ballabio. “Xp contiguous gene syndromes: from clinical observation to
disease gene identification”. Chromosomes today, Vol.13: 225-243, 2000.
B Franco. "Chromosome X". Nature Encyclopedia of the Human Genome, editor D.
Cooper, vol. 1: 710-719, 2003 McMillan Publisher.
Gerola O, Cerbo R.M., Franco B, Rondini G. Neonatal multiple hyperplastic oral
frenulae and bilobulated tongue. Italian Journal of Pediatrics Volume 29, Issue 5,
October 2003, Pages 323-325.
B Franco. The Molecular basis of Oral-facial-digital type 1 (OFD1) syndrome. In Inborn
errors of human development. 2nd edition, in press.