PubRank

A Ciccodicola

Author PubWeight™ 50.92‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium. Nature 2000 3.61
2 A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3). Nat Genet 1996 3.31
3 Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa. Nat Genet 2000 2.82
4 Locations and contexts of sequences that hybridize to poly(dG-dT).(dC-dA) in mammalian ribosomal DNAs and two X-linked genes. Nucleic Acids Res 1988 2.64
5 Multiple pathogenic and benign genomic rearrangements occur at a 35 kb duplication involving the NEMO and LAGE2 genes. Hum Mol Genet 2001 2.00
6 Long-range sequence analysis in Xq28: thirteen known and six candidate genes in 219.4 kb of high GC DNA between the RCP/GCP and G6PD loci. Hum Mol Genet 1996 1.65
7 Mapping human chromosomes by walking with sequence-tagged sites from end fragments of yeast artificial chromosome inserts. Genomics 1992 1.30
8 Yeast artificial chromosome-based genome mapping: some lessons from Xq24-q28. Genomics 1991 1.21
9 Isolation, physical mapping, and northern analysis of the X-linked human gene encoding methyl CpG-binding protein, MECP2. Mamm Genome 1996 1.20
10 Identification of novel RP2 mutations in a subset of X-linked retinitis pigmentosa families and prediction of new domains. Hum Mutat 2001 1.19
11 Autosomal recessive familial exudative vitreoretinopathy: evidence for genetic heterogeneity. Clin Genet 1998 1.14
12 Molecular genetics of autosomal dominant retinitis pigmentosa (ADRP): a comprehensive study of 43 Italian families. J Med Genet 2005 1.12
13 A synaptobrevin-like gene in the Xq28 pseudoautosomal region undergoes X inactivation. Nat Genet 1996 1.12
14 Klinefelter's syndrome as a model of anomalous cerebral laterality: testing gene dosage in the X chromosome pseudoautosomal region using a DNA microarray. Dev Genet 1998 1.11
15 A novel pseudoautosomal gene encoding a putative GTP-binding protein resides in the vicinity of the Xp/Yp telomere. Hum Mol Genet 1998 1.10
16 YAC contig organization and CpG island analysis in Xq28. Genomics 1994 1.08
17 An extensive search for RFLP in the human glucose-6-phosphate dehydrogenase locus has revealed a silent mutation in the coding sequence. Am J Hum Genet 1988 1.07
18 Clinical features of X linked juvenile retinoschisis associated with new mutations in the XLRS1 gene in Italian families. Br J Ophthalmol 2003 1.04
19 A muscle-specific DNase I-like gene in human Xq28. Hum Mol Genet 1995 0.99
20 Cloning and gene structure of the rod cGMP phosphodiesterase delta subunit gene (PDED) in man and mouse. Eur J Hum Genet 1998 0.98
21 Escape from X inactivation of two new genes associated with DXS6974E and DXS7020E. Genomics 1997 0.98
22 Sequence of human glucose-6-phosphate dehydrogenase cloned in plasmids and a yeast artificial chromosome. Genomics 1991 0.97
23 Differential expression pattern of XqPAR-linked genes SYBL1 and IL9R correlates with the structure and evolution of the region. Hum Mol Genet 1997 0.96
24 A novel pseudoautosomal human gene encodes a putative protein similar to Ac-like transposases. Hum Mol Genet 1999 0.96
25 Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosa. Eur J Hum Genet 1999 0.91
26 Human glucose-6-phosphate dehydrogenase gene carried on a yeast artificial chromosome encodes active enzyme in monkey cells. Genomics 1990 0.91
27 ZPLD1 gene is disrupted in a patient with balanced translocation that exhibits cerebral cavernous malformations. Neuroscience 2008 0.89
28 Identification of new mutations in the Emery-Dreifuss muscular dystrophy gene and evidence for genetic heterogeneity of the disease. Hum Mol Genet 1995 0.89
29 Sequence-based exon prediction around the synaptophysin locus reveals a gene-rich area containing novel genes in human proximal Xp. Genomics 1997 0.87
30 Mutation in the nerve-specific 5'non-coding region of Cx32 gene and absence of specific mRNA in a CMTX1 Italian family. Mutations in brief no. 195. Online. Hum Mutat 1998 0.85
31 Molecular cloning and fine mapping of API5L1, a novel human gene strongly related to an antiapoptotic gene. Cytogenet Cell Genet 1999 0.84
32 SSCP detection of novel mutations in patients with Emery-Dreifuss muscular dystrophy: definition of a small C-terminal region required for emerin function. Hum Mol Genet 1995 0.84
33 Identification and characterization of a novel human brain-specific gene, homologous to S. scrofa tmp83.5, in the chromosome 10q24 critical region for temporal lobe epilepsy and spastic paraplegia. Gene 2002 0.83
34 Isolation and characterization of the CRIPTO autosomal gene and its X-linked related sequence. Am J Hum Genet 1991 0.82
35 Conserved sequence-tagged sites: a phylogenetic approach to genome mapping. Proc Natl Acad Sci U S A 1992 0.82
36 A novel germline mutation in peroxisome proliferator-activated receptor gamma gene associated with large intestine polyp formation and dyslipidemia. Biochim Biophys Acta 2010 0.81
37 Human and mouse SYBL1 gene structure and expression. Gene 1999 0.81
38 Clinical phenotype of an Italian family with a new mutation in the PRPF8 gene. Eur J Ophthalmol 2006 0.79
39 Human protein kinase C Iota gene (PRKCI) is closely linked to the BTK gene in Xq21.3. Genomics 1995 0.77
40 Smith-Lemli-Opitz syndrome: evidence of T93M as a common mutation of delta7-sterol reductase in Italy and report of three novel mutations. Eur J Hum Genet 1999 0.77
41 Human dbl proto-oncogene in 85 kb of xq26, and determination of the transcription initiation site. Gene 2000 0.77
42 Identification and assignment of the human transient receptor potential channel 6 gene TRPC6 to chromosome 11q21-->q22. Cytogenet Cell Genet 1998 0.77
43 Ocular signs associated with a rhodopsin mutation (Cys-167-->Arg) in a family with autosomal dominant retinitis pigmentosa. Br J Ophthalmol 1998 0.76
44 Complete congenital stationary night blindness maps on Xp11.4 in a Sardinian family. Eur J Hum Genet 1999 0.76
45 A new de novo mutation of the connexin-32 gene in a patient with X-linked Charcot-Marie-Tooth type 1 disease. Neurol Sci 2000 0.75
46 Filamin (FLN1), plexin (SEX), major palmitoylated protein p55 (MPP1), and von-Hippel Lindau binding protein (VBP1) are not involved in incontinentia pigmenti type 2. Am J Med Genet 2000 0.75
47 Expressed STSs and transcription of human Xq28. Gene 1997 0.75
48 Functional expression of human glucose-6-phosphate dehydrogenase in Escherichia coli. Gene 1989 0.75
49 Human homologue of the murine bare patches/striated gene is not mutated in incontinentia pigmenti type 2. Am J Med Genet 2000 0.75
50 Two novel mutations in the retinitis pigmentosa GTPase regulator (RPGR) gene in X-linked retinitis pigmentosa (RP3). Mutations in brief no. 172. Online. Hum Mutat 1998 0.75
51 Mutation analysis of the DKC1 gene in incontinentia pigmenti. J Med Genet 1999 0.75