B. Franco

发表

Somatic cell hybrids, sequence-tagged sites, simple repeat polymorphisms, and yeast artificial chromosomes for physical and genetic mapping of proximal 17p.

B. Trask, J. Lupski, A. Chinault, 1992, Genomics.

Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency.

E. Bertini, M. Rocchi, T. Meitinger, 1998, American journal of human genetics.

Mutation analysis of the HLA-H gene in Italian hemochromatosis patients.

D. Girelli, P. Gasparini, M. Carella, 1997, American journal of human genetics.

An integrated physical and genetic map of a 35 Mb region on chromosome Xp22.3-Xp21.3.

J. Weissenbach, D. Schlessinger, G. Borsani, 1995, Human molecular genetics.

Genetic mapping of autosomal dominant Charcot-Marie-Tooth disease in a large French-Acadian kindred: identification of new linked markers on chromosome 17.

D. Ledbetter, J. Lupski, P. Patel, 1990, American journal of human genetics.

IL1RAPL2 maps to Xq22 and is specifically expressed in the central nervous system.

M. Ferrante, M. Ghiani, A. Bulfone, 2001, Gene.

Characterization of a novel chromo domain gene in xp22.3 with homology to Drosophila msl-3.

A. Ballabio, H. Zoghbi, M. Volta, 1999, Genomics.

Identification of SCML2, a second human gene homologous to the Drosophila sex comb on midleg (Scm): A new gene cluster on Xp22.

A. Ballabio, M. Rocchi, J. D. den Dunnen, 1999, Genomics.

A novel human serine-threonine phosphatase related to the Drosophila retinal degeneration C (rdgC) gene is selectively expressed in sensory neurons of neural crest origin.

E. Rugarli, A. Ballabio, J. T. Dunnen, 1997, Human molecular genetics.

Generation of a transcription map of a 1 Mbase region containing the HFE gene (6p22)

J. Rommens, P. Gasparini, M. Carella, 1998, European Journal of Human Genetics.

High-density physical mapping of a 3-Mb region in Xp22.3 and refined localization of the gene for X-linked recessive chondrodysplasia punctata (CDPX1).

J. Weissenbach, D. Le Paslier, A. Ballabio, 1995, Genomics.

Identification by shotgun sequencing, genomic organization, and functional analysis of a fourth arylsulfatase gene (ARSF) from the Xp22.3 region.

A. Ballabio, A. Puca, A. Guffanti, 1997, Genomics.

Identification and characterization of a highly conserved protein absent in the Alport syndrome (A), mental retardation (M), midface hypoplasia (M), and elliptocytosis (E) contiguous gene deletion syndrome (AMME).

F. Vitelli, A. Malandrini, A. Renieri, 1999, Genomics.

Identification of a new EGF-repeat-containing gene from human Xp22: a candidate for developmental disorders.

A. Ballabio, B. Franco, M. Bassi, 2000, Genomics.

Mental retardation in a boy with an interstitial deletion at Xp22.3 involving STS, KAL1, and OA1: implication for the MRX locus.

A. Ballabio, G. Rappold, T. Ogata, 1996, American journal of medical genetics.

Characterization of a cluster of sulfatase genes on Xp22.3 suggests gene duplications in an ancestral pseudoautosomal region.

A. Ballabio, N. Archidiacono, M. Rocchi, 1996, Human molecular genetics.

Kallmann syndrome gene on the X and Y chromosomes: implications for evolutionary divergence of human sex chromosomes

G. Borsani, A. Ballabio, G. Camerino, 1992, Nature Genetics.

A member of a gene family on Xp22.3, VCX-A, is deleted in patients with X-linked nonspecific mental retardation.

V. Beneš, A. Ballabio, W. Ansorge, 2000, American journal of human genetics.

Intragenic Deletion of theKALIG-1Gene in Kallmann's Syndrome

A. Ballabio, T. Meitinger, D. Bick, 1992 .

Characterization of Cxorf5 (71-7A), a novel human cDNA mapping to Xp22 and encoding a protein containing coiled-coil alpha-helical domains.

G. Borsani, A. Ballabio, M. Wapenaar, 1998, Genomics.

MID2, a homologue of the Opitz syndrome gene MID1: similarities in subcellular localization and differences in expression during development.

A. Ballabio, G. Meroni, B. Franco, 1999, Human molecular genetics.

Identification of a novel homolog of the Drosophila staufen protein in the chromosome 8q13-q21.1 region.

A. Ballabio, B. Franco, M. Bassi, 1999, Genomics.

Identification and characterization of a novel serine-threonine kinase gene from the Xp22 region.

A. Ballabio, A. Caruso, B. Franco, 1998, Genomics.

Identification of the gene for oral-facial-digital type I syndrome.

A. Ballabio, R. Winter, A. Woolf, 2001, American journal of human genetics.

Kallmann syndrome due to a translocation resulting in an X/Y fusion gene

A. Ballabio, G. Camerino, B. Bardoni, 1992, Nature Genetics.

Human FIGF: cloning, gene structure, and mapping to chromosome Xp22.1 between the PIGA and the GRPR genes.

A. Ballabio, A. Luddi, O. Zuffardi, 1998, Genomics.

Two MspI RFLPs at the D17S258 locus.

J. Lupski, Y. Nakamura, D. Rincon-Limas, 1990, Nucleic acids research.

Isolation of a marker linked to the Charcot-Marie-Tooth disease type IA gene by differential Alu-PCR of human chromosome 17-retaining hybrids.

J. Lupski, P. Patel, A. Chakravarti, 1990, American journal of human genetics.

An Mspl RFLP at the D17S258 locus

J. Lupski, D. Rincon-Limas, B. Franco, 1991 .

X-linked recessive chondrodysplasia punctata due to a new point mutation of the ARSE gene.

A. Ballabio, N. Brunetti‐Pierri, G. Meroni, 1997, American journal of medical genetics.

Construction of a YAC contig covering human chromosome 6p22.

A. Novelletto, M. Carella, F. Trettel, 1996, Genomics.

Identification and characterization of AFG3L2, a novel paraplegin-related gene.

A. Ballabio, S. Banfi, G. Casari, 1999, Genomics.

Molecular characterization of a patient with del(1)(q23–q25)

B. Trask, D. Ledbetter, J. Lupski, 1991, Human Genetics.

Identification and characterization of a novel member of the dystrobrevin gene family

A. Ballabio, A. Puca, G. Piluso, 1998, FEBS letters.

A gene from the Xp22.3 region shares homology with voltage-gated chloride channels.

G. Borsani, E. Rugarli, A. Ballabio, 1994, Human molecular genetics.

A 5' regulatory sequence containing two Ets motifs controls the expression of the Wiskott-Aldrich syndrome protein (WASP) gene in human hematopoietic cells.

A. Ballabio, P. Tassone, S. Venuta, 1998, Blood.

A 5 8 Regulatory Sequence Containing Two Ets Motifs Controls the Expression of the Wiskott-Aldrich Syndrome Protein ( WASP ) Gene in Human Hematopoietic Cells

A. Ballabio, P. Tassone, S. Venuta, 1998 .

Identification and characterization of CDS2, a mammalian homolog of the Drosophila CDP-diacylglycerol synthase gene.

A. Ballabio, M. Volta, S. Banfi, 1999, Genomics.

Linkage mapping of a nonspecific form of X-linked mental retardation (MRX53) in a large Pakistani family.

A. Ballabio, M. Rafiq, P. Aridon, 2001, American journal of medical genetics.

Variable penetrance of hypogonadism in a sibship with Kallmann syndrome due to a deletion of the KAL gene.

A. Ballabio, G. Andria, G. Parenti, 1995, American journal of medical genetics.