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Giovanni Neri

Molecular alterations of the AKT2 oncogene in ovarian and breast carcinomas
1995 · Alfonso Bellacosa, Daniela De Feo, et al. · International Journal of Cancer · 837
p63 Gene Mutations in EEC Syndrome, Limb-Mammary Syndrome, and Isolated Split Hand–Split Foot Malformation Suggest a Genotype-Phenotype Correlation
2001 · Hans van Bokhoven, Ben C.J. Hamel, et al. · The American Journal of Human Genetics · 372
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MED1, a novel human methyl-CpG-binding endonuclease, interacts with DNA mismatch repair protein MLH1
1999 · Alfonso Bellacosa, Lucia Cicchillitti, et al. · Proceedings of the National Academy of Sciences · 269
The DNA repair gene MBD4 (MED1) is mutated in human carcinomas with microsatellite instability
1999 · Antonio Riccio, Lauri A. Aaltonen, et al. · Nature Genetics · 209
Complex chromosomal rearrangement in a woman with multiple miscarriages
1988 · Katrin Kausch, Thomas Haaf, et al. · American Journal of Medical Genetics · 139
Isochromosome 12p mosaicism (Pallister mosaic aneuploidy or Pallister‐Killian syndrome): Report of 11 cases
1987 · James F. Reynolds, Art Daniel, et al. · American Journal of Medical Genetics · 138
Genetic homogeneity between childhood-onset and adult-onset autosomal recessive spinal muscular atrophy
1995 · C. Brahe, S. Zappata, et al. · The Lancet · 116
A case of Beckwith–Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locus
2009 · Marcella Zollino, Daniela Orteschi, et al. · Journal of Medical Genetics · 102
Further delineation of a syndrome of cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis
1989 · A. Verloes, C. Lambotte, et al. · American Journal of Medical Genetics · 90
A New Susceptibility Locus for Migraine with Aura in the 15q11-q13 Genomic Region Containing Three GABA-A Receptor Genes
2005 · Luisa Russo, Paolo Mariotti, et al. · The American Journal of Human Genetics · 88
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Survival analysis in families affected by hereditary non-polyposis colorectal cancer
1997 · Antonio Percesepe, Piero Benatti, et al. · International Journal of Cancer · 78
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Simpson‐Golabi‐Behmel syndrome: An X‐linked encephalo‐trophoschisis syndrome
1988 · G. Neri, R. Marini, et al. · American Journal of Medical Genetics · 78
Characterization ofMSH2 andMLH1 mutations in Italian families with hereditary nonpolyposis colorectal cancer
1997 · Alessandra Viel, Maurizio Genuardi, et al. · Genes Chromosomes and Cancer · 72
Reproductive risks for translocation carriers: Cytogenetic study and analysis of pregnancy outcome in 58 families
1983 · Giovanni Neri, Angelo Serra, et al. · American Journal of Medical Genetics · 72
Detection of the Survival Motor Neuron (SMN) Genes by FISH: Further Evidence for a Role for SMN2 in the Modulation of Disease Severity in SMA Patients
1999 · T. Vitali, V. Sossi, et al. · Human Molecular Genetics · 69
SMN transcript levels in leukocytes of SMA patients determined by absolute real-time PCR
2009 · Francesco Danilo Tiziano, Anna Maria Pinto, et al. · European Journal of Human Genetics · 54
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Premature termination mutations in exon 3 of the SMN1 gene are associated with exon skipping and a relatively mild SMA phenotype
2001 · Vittorio Sossi, Anna Giuli, et al. · European Journal of Human Genetics · 50
Split hand/split foot anomaly in a family segregating a balanced translocation with breakpoint on 7q22.1
1993 · Maurizio Genuardi, Maria Grazia Pomponi, et al. · American Journal of Medical Genetics · 50
SMN protein analysis in fibroblast, amniocyte and CVS cultures from spinal muscular atrophy patients and its relevance for diagnosis
1999 · Anna Letizia Patrizi, Francesco Tiziano, et al. · European Journal of Human Genetics · 48
A new case of interstitial deletion of chromosome 3q, del(3q)(q13.12q21.3), with agenesis of the corpus callosum
1994 · M. GENUARDI, F. CALVIERI, et al. · Clinical Dysmorphology · 40
Neu‐Laxova syndrome: Pathological, radiological, and prenatal findings in a stillborn female
1989 · Rosa Russo, Maria D'Armiento, et al. · American Journal of Medical Genetics · 32
Prevalence of a novel epileptogenic EEG pattern in the Martin‐Bell syndrome
1988 · S. A. Musumeci, R. Ferri, et al. · American Journal of Medical Genetics · 30
Mutations of the 'minor' mismatch repair gene MSH6 in typical and atypical hereditary nonpolyposis colorectal cancer
2001 · Emanuela Lucci-Cordisco, Valentina Rovella, et al. · Familial Cancer · 27
“C” trigonocephaly syndrome: Clinical variability and possibility of surgical treatment
1990 · F. Lalatta, D. Clerici Bagozzi, et al. · American Journal of Medical Genetics · 27
Mapping of two new markers within the smallest interval harboring the spinal muscular atrophy locus by family and radiation hybrid analysis
1994 · Christina Brahe, Isabella Velonà, et al. · Human Genetics · 26
Works count: 60
Citation count: 3,415
H-index: 26
I10-index: 38
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