Giovanni Neri

Summary

Affiliation: Catholic University
Country: Italy

Publications

  1. pmc Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients
    Angela Bentivegna
    Division of Medical Genetics, San Paolo School of Medicine, University of Milan, Italy
    BMC Med Genet 7:77. 2006
  2. doi request reprint A case of Beckwith-Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locus
    Marcella Zollino
    Istituto di Genetica Medica, Universita Cattolica Sacro Cuore, Policlinico A Gemelli, Largo F Vito 1, Roma 00168, Italy
    J Med Genet 47:429-32. 2010
  3. doi request reprint Down syndrome: comments and reflections on the 50th anniversary of Lejeune's discovery
    Giovanni Neri
    Istituto di Genetica Medica, Universita Cattolica del S Cuore, Rome, Italy
    Am J Med Genet A 149:2647-54. 2009
  4. ncbi request reprint Sixty years of X-linked mental retardation: a historical footnote
    G Neri
    Istituto di Genetica Medica, Universita Cattolica, Largo F Vito, 1, 00168 Roma, Italy
    Am J Med Genet 97:228-33. 2000
  5. doi request reprint Overgrowth syndromes: a classification
    Giovanni Neri
    Institute of Medical Genetics, Catholic University, Rome, Italy
    Endocr Dev 14:53-60. 2009
  6. pmc Biomarkers in rare disorders: the experience with spinal muscular atrophy
    Francesco D Tiziano
    Institute of Medical Genetics, Catholic University of Sacro Cuore, Roma, Italy E Mails G N C B
    Int J Mol Sci 12:24-38. 2010
  7. ncbi request reprint [Clinical syndromes with ambiguous genitalia]
    G Neri
    Istituto di Genetica Medica, Facolta di Medicina A Gemelli, Universita Cattolica del S Cuore, Largo F Vito, 1, 00168, Roma
    Minerva Pediatr 55:7-8. 2003
  8. ncbi request reprint The Helena syndromes
    Giovanni Neri
    Istituto di Genetica Medica, Facolta di Medicina A Gemelli, Universita Cattolica del S Cuore, Roma, Italy
    Am J Med Genet A 140:2007-12. 2006
  9. ncbi request reprint Two brothers with 22q13 deletion syndrome and features suggestive of the Clark-Baraitser syndrome
    Elisabetta Tabolacci
    Institute of Medical Genetics, Catholic University, Rome, Italy
    Clin Dysmorphol 14:127-32. 2005
  10. doi request reprint Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype
    Marcella Zollino
    Istituto di Genetica Medica, Universita Cattolica del Sacro Cuore, Policlinico A Gemelli, Rome, Italy
    Nat Genet 44:636-8. 2012

Detail Information

Publications102 found, 100 shown here

  1. pmc Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients
    Angela Bentivegna
    Division of Medical Genetics, San Paolo School of Medicine, University of Milan, Italy
    BMC Med Genet 7:77. 2006
    ..3. To date mutations in CREBBP have been reported in 56.6% of RSTS patients and an average figure of 10% has ascribed to deletions...
  2. doi request reprint A case of Beckwith-Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locus
    Marcella Zollino
    Istituto di Genetica Medica, Universita Cattolica Sacro Cuore, Policlinico A Gemelli, Largo F Vito 1, Roma 00168, Italy
    J Med Genet 47:429-32. 2010
    ..It also supports the model of two independent domains within the BWS locus...
  3. doi request reprint Down syndrome: comments and reflections on the 50th anniversary of Lejeune's discovery
    Giovanni Neri
    Istituto di Genetica Medica, Universita Cattolica del S Cuore, Rome, Italy
    Am J Med Genet A 149:2647-54. 2009
    ..Many important ongoing efforts are underway in several countries to understand the developmental biology of DS, offering hope of ultimate amelioration for those averse to pregnancy termination...
  4. ncbi request reprint Sixty years of X-linked mental retardation: a historical footnote
    G Neri
    Istituto di Genetica Medica, Universita Cattolica, Largo F Vito, 1, 00168 Roma, Italy
    Am J Med Genet 97:228-33. 2000
    ..Looking back to a more or less recent past may provide clues for future discoveries...
  5. doi request reprint Overgrowth syndromes: a classification
    Giovanni Neri
    Institute of Medical Genetics, Catholic University, Rome, Italy
    Endocr Dev 14:53-60. 2009
    ..Overgrowth syndromes are characterized by macrosomia, congenital anomalies, mental retardation and an increased risk of tumors. In this article we will analyze what we define 'classical' overgrowth...
  6. pmc Biomarkers in rare disorders: the experience with spinal muscular atrophy
    Francesco D Tiziano
    Institute of Medical Genetics, Catholic University of Sacro Cuore, Roma, Italy E Mails G N C B
    Int J Mol Sci 12:24-38. 2010
    ..Preclinical studies on SMA animal models and double-blind, placebo-controlled studies are crucial to evaluate the appropriateness of biomarkers, on the basis of correlations with clinical outcome...
  7. ncbi request reprint [Clinical syndromes with ambiguous genitalia]
    G Neri
    Istituto di Genetica Medica, Facolta di Medicina A Gemelli, Universita Cattolica del S Cuore, Largo F Vito, 1, 00168, Roma
    Minerva Pediatr 55:7-8. 2003
  8. ncbi request reprint The Helena syndromes
    Giovanni Neri
    Istituto di Genetica Medica, Facolta di Medicina A Gemelli, Universita Cattolica del S Cuore, Roma, Italy
    Am J Med Genet A 140:2007-12. 2006
    ..These three conditions are briefly revisited with a critical perspective, made possible by the elapse of 20 years, since the time when the author became acquainted with them...
  9. ncbi request reprint Two brothers with 22q13 deletion syndrome and features suggestive of the Clark-Baraitser syndrome
    Elisabetta Tabolacci
    Institute of Medical Genetics, Catholic University, Rome, Italy
    Clin Dysmorphol 14:127-32. 2005
    ..Thus, we describe the first familial case of 22q13 deletion and recommend that patients with a phenotype suggestive of the so-called Clark-Baraitser syndrome be tested for submicroscopic 22qter deletion...
  10. doi request reprint Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype
    Marcella Zollino
    Istituto di Genetica Medica, Universita Cattolica del Sacro Cuore, Policlinico A Gemelli, Rome, Italy
    Nat Genet 44:636-8. 2012
    ..31) phenotype in two unrelated individuals that lack deletion at 17q21.31. These findings indicate that 17q21.31 deletion syndrome is a monogenic disorder caused by haploinsufficiency of KANSL1...
  11. doi request reprint Unexpected finding of a paternal premutation of the fragile X FMR1 gene in a female fetus of a premutation carrier mother
    M Grazia Pomponi
    Institute of Medical Genetics, Catholic University, Rome, Italy
    Am J Med Genet A 152:409-12. 2010
    ....
  12. ncbi request reprint A double cryptic chromosome imbalance is an important factor to explain phenotypic variability in Wolf-Hirschhorn syndrome
    Marcella Zollino
    Istituto di Genetica Medica, Facolta di Medicina A Gemelli, UCSC, Roma, Italy
    Eur J Hum Genet 12:797-804. 2004
    ..It can be inferred that a double, cryptic chromosome imbalance is an important factor for phenotypic variability in WHS. It acts either by masking the actual deletion size or by doubling a quantitative change of the genome...
  13. ncbi request reprint Differential epigenetic modifications in the FMR1 gene of the fragile X syndrome after reactivating pharmacological treatments
    Elisabetta Tabolacci
    Istituto di Genetica Medica, Universita Cattolica, Rome, Italy
    Eur J Hum Genet 13:641-8. 2005
    ..Our experiments indicate that H3-K4 methylation and DNA demethylation are the main epigenetic switches activating the expression of the FMR1 gene, with histone acetylation playing an ancillary role...
  14. doi request reprint Salbutamol increases survival motor neuron (SMN) transcript levels in leucocytes of spinal muscular atrophy (SMA) patients: relevance for clinical trial design
    Francesco Danilo Tiziano
    Istituto di Genetica Medica, Universita Cattolica del Sacro Cuore, Largo Francesco Vito, 1 00168 Roma, Italy
    J Med Genet 47:856-8. 2010
    ..Recently, evidence has been provided that SMN2 expression can be enhanced in vitro by salbutamol, a β2-adrenergic agonist. This compound has also been shown to improve motor function of SMA patients in two different pilot trials...
  15. doi request reprint Duplication of the Rubinstein-Taybi region on 16p13.3 is associated with a distinctive phenotype
    Giuseppe Marangi
    Istituto di Genetica Medica, Universita Cattolica del Sacro Cuore, Roma, Italy
    Am J Med Genet A 146:2313-7. 2008
    ..3 microduplications encompassing the Rubinstein-Taybi region result in a recognizable clinical condition, most likely representing a single gene disorder...
  16. doi request reprint Epigenetic analysis reveals a euchromatic configuration in the FMR1 unmethylated full mutations
    Elisabetta Tabolacci
    Institute of Medical Genetics, Catholic University, Rome, Italy
    Eur J Hum Genet 16:1487-98. 2008
    ..The discovery of such a mechanism may be important in view of therapeutic attempts to convert methylated into unmethylated full mutations, restoring the expression of the FMR1 gene...
  17. doi request reprint On the nosology and pathogenesis of Wolf-Hirschhorn syndrome: genotype-phenotype correlation analysis of 80 patients and literature review
    Marcella Zollino
    Department of Medical Genetics, Universita Cattolica Sacro Cuore, Roma, Italy
    Am J Med Genet C Semin Med Genet 148:257-69. 2008
    ..With the exception of parental balanced translocations, familial recurrence is uncommon...
  18. ncbi request reprint Wolf-Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16
    Marcella Zollino
    Istituto di Genetica Medica, Policlinico A Gemelli, Universita Cattolica Sacro Cuore, L go F Vito, 1, 00168, Rome, Italy
    Hum Genet 122:423-30. 2007
    ..It was detected only in the mothers of 3 t(4p;8p) cases. We conclude that WHS-associated chromosome changes are not usually mediated by low copy repeats. The 4p16.3 inversion polymorphism is not a risk factor for their origin...
  19. doi request reprint Classification of familial amyotrophic lateral sclerosis by family history: effects on frequency of genes mutation
    Amelia Conte
    Istituto di Neurologia, Universita Cattolica del Sacro Cuore, Rome, Italy
    J Neurol Neurosurg Psychiatry 83:1201-3. 2012
    ..To classify familial amyotrophic lateral sclerosis (FALS) on the base of family history, and to determine whether frequency of mutations in major amyotrophic lateral sclerosis (ALS) genes varies in different FALS categories...
  20. ncbi request reprint A unique case of reversion to normal size of a maternal premutation FMR1 allele in a normal boy
    Elisabetta Tabolacci
    Facolta di Medicina e Chirurgia, Institute of Medical Genetics, Catholic University, Rome, Italy
    Eur J Hum Genet 16:209-14. 2008
    ..To the best of our knowledge, this is the first non-mosaic case of reduction in the CGG tract of the FMR1 gene, resulting in a normal allele...
  21. pmc TRAPPC9-related autosomal recessive intellectual disability: report of a new mutation and clinical phenotype
    Giuseppe Marangi
    Istituto di Genetica Medica, Universita Cattolica Sacro Cuore, Largo Francesco Vito 1, Rome, Italy
    Eur J Hum Genet 21:229-32. 2013
    ....
  22. ncbi request reprint A truncating mutation in the IL1RAPL1 gene is responsible for X-linked mental retardation in the MRX21 family
    Elisabetta Tabolacci
    Istituto di Genetica Medica, Universita Cattolica, Roma, Italy
    Am J Med Genet A 140:482-7. 2006
    ..Our report confirms the role of the IL1RAPL1 gene in causing nonspecific mental retardation in males and underlines the importance of detailed linkage analysis before candidate gene mutational screening...
  23. doi request reprint The ring 14 syndrome: clinical and molecular definition
    Marcella Zollino
    Istituto di Genetica Medica, Universita Cattolica del S Cuore, Roma, Italy
    Am J Med Genet A 149:1116-24. 2009
    ..2-q12 region. Likewise, behavior disorders and scoliosis could be assigned to the 14q32 region...
  24. ncbi request reprint Phenylbutyrate increases SMN gene expression in spinal muscular atrophy patients
    Christina Brahe
    Istituto di Genetica Medica, Universita Cattolica S Cuore, Largo F Vito, 1, 00168 Rome, Italy
    Eur J Hum Genet 13:256-9. 2005
    ..This finding provides a strong rationale to further investigate the effects of PB as also supported by preliminary clinical data...
  25. pmc Role of CTCF protein in regulating FMR1 locus transcription
    Stella Lanni
    Istituto di Genetica Medica, Universita Cattolica del S Cuore, Rome, Italy
    PLoS Genet 9:e1003601. 2013
    ..We conclude that CTCF has a complex role in regulating FMR1 expression, probably through the organization of chromatin loops between sense/antisense transcriptional regulatory regions, as suggested by bioinformatics analysis. ..
  26. doi request reprint The ring 14 syndrome
    Marcella Zollino
    Istituto di Genetica Medica, Universita Cattolica Sacro Cuore, Policlinico A Gemelli, Largo F Vito 1, Rome, Italy
    Eur J Med Genet 55:374-80. 2012
    ..Behavior disorders and susceptibility to infections can be assigned to the 14q32 region, haploinsufficiency being the most likely underlying mechanism...
  27. doi request reprint Modest reactivation of the mutant FMR1 gene by valproic acid is accompanied by histone modifications but not DNA demethylation
    Elisabetta Tabolacci
    Medical Genetics, Catholic University, Rome, Italy
    Pharmacogenet Genomics 18:738-41. 2008
    ..These results confirm the histone hyperacetylating effect of VPA but do not support its putative DNA demethylation activity. The primary role of DNA demethylation in the reactivation of the FMR1 gene was confirmed...
  28. pmc Integrated analysis of clinical signs and literature data for the diagnosis and therapy of a previously undescribed 6p21.3 deletion syndrome
    Marcella Zollino
    Istituto di Genetica Medica, Universita Cattolica Sacro Cuore, Policlinico A Gemelli, Roma, Italy
    Eur J Hum Genet 19:239-42. 2011
    ....
  29. pmc SMN transcript levels in leukocytes of SMA patients determined by absolute real-time PCR
    Francesco Danilo Tiziano
    Institute of Medical Genetics, Catholic University, Largo Francesco Vito, 1, 00168 Rome, Italy
    Eur J Hum Genet 18:52-8. 2010
    ..Our study shows that SMN2-fl dosage in leukocytes can be considered a reliable biomarker and can provide the rationale for SMN dosage in clinical trials...
  30. pmc Expanding the spectrum of rearrangements involving chromosome 19: a mild phenotype associated with a 19p13.12-p13.13 deletion
    Giuseppe Marangi
    Institute of Medical Genetics, Universita Cattolica del Sacro Cuore, Roma, Italy
    Am J Med Genet A 158:888-93. 2012
    ..This patient constitutes a further example of the wide phenotypic variability associated with chromosomal rearrangements, likely due to the different size of deleted/duplicated segments...
  31. ncbi request reprint Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome
    Giuseppe Zampino
    Istituto di Clinica Pediatrica, Universita Cattolica del Sacro Cuore, Rome, Italy
    Hum Mutat 28:265-72. 2007
    ..We noted an advanced age at conception in unaffected fathers transmitting the mutation...
  32. doi request reprint Replication of association of CHRNA4 rare variants with sporadic amyotrophic lateral sclerosis: the Italian multicentre study
    Mario Sabatelli
    Istituto di Neurologia, Universita Cattolica del Sacro Cuore, Roma, Italy
    Amyotroph Lateral Scler 13:580-4. 2012
    ..In conclusion, the present data confirm that CHRNA4 variants are overrepresented in SALS strengthening the hypothesis can they act as predisposing genetic factors for SALS...
  33. ncbi request reprint Molecular dissection of the events leading to inactivation of the FMR1 gene
    Roberta Pietrobono
    Istituto di Genetica Medica, Universita Cattolica, Rome, Italy
    Hum Mol Genet 14:267-77. 2005
    ..Our results also suggest that the molecular pathways regulating DNA and H3-K4 methylation are independent from those regulating histone acetylation and H3-K9 methylation...
  34. doi request reprint Insertion of 16 amino acids in the BAR domain of the oligophrenin 1 protein causes mental retardation and cerebellar hypoplasia in an Italian family
    Filomena Pirozzi
    Istituto di Genetica Medica, Universita Cattolica, Roma, Italy
    Hum Mutat 32:E2294-307. 2011
    ..4 turns in the third alpha-helix of the BAR domain and apparently impair the protein function. In fact, the clinical phenotype of these patients is identical to that of patients with loss-of-function mutations...
  35. ncbi request reprint Oral-facial-digital syndromes: review and diagnostic guidelines
    Fiorella Gurrieri
    Istituto di Genetica Medica, Università Cattolica Facoltà di Medicina, Roma, Italy
    Am J Med Genet A 143:3314-23. 2007
    ..To date, 13 types have been distinguished based on characteristic clinical manifestations. An updated list of these types is provided and recent molecular data are discussed...
  36. doi request reprint Three unrelated patients with congenital anterior pituitary aplasia and a characteristic physical and neuropsychological phenotype: a new syndrome?
    Emanuela Lucci-Cordisco
    Istituto di Genetica Medica, Universita Cattolica del Sacro Cuore, Rome, Italy
    Am J Med Genet A 158:2750-5. 2012
    ..We suggest that the constellation of clinical signs in these patients constitutes a previously undescribed syndrome, whose genetic cause has yet to be identified...
  37. doi request reprint Chromosome 9p deletion syndrome and sex reversal: novel findings and redefinition of the critically deleted regions
    Roberta Onesimo
    Department of Pediatrics, Catholic University School of Medicine, and Department Pediatric Surgery, San Camillo de Lellis Hospital, Rome, Italy
    Am J Med Genet A 158:2266-71. 2012
    ..Our observations expand the 9p deletion clinical spectrum, and add significantly to the definition of a 9p-syndrome critical region...
  38. doi request reprint Treatment with valproic acid ameliorates ADHD symptoms in fragile X syndrome boys
    Mariagiulia Torrioli
    Universita Cattolica del Sacro Cuore, Cattedra di Neuropsichiatria Infantile, Rome, Italy
    Am J Med Genet A 152:1420-7. 2010
    ..This treatment could be considered as an alternative to that with stimulants, whose efficacy in patients with FXS needs to be confirmed by further studies...
  39. doi request reprint A case of 45,X male: genetic reevaluation and hormonal and metabolic follow-up in adult age
    Antonio Mancini
    Catholic University of the Sacred Heart, Rome, Italy
    Fertil Steril 90:2011.e17-21. 2008
    ..To report a case of a 45,X man, a rare condition with a clinical course that has not been dealt with by any previous article in the literature...
  40. ncbi request reprint Fragile X syndrome
    Alessandra Terracciano
    Institute of Medical Genetics of Catholic University, Rome, Italy
    Am J Med Genet C Semin Med Genet 137:32-7. 2005
    ..This review highlights the most recent advances in the field of fragile X research...
  41. doi request reprint Correlation between GJB2 mutations and audiological deficits: personal experience
    Pasqualina M Picciotti
    Ist Clinica ORL, Universita Cattolica del Sacro Cuore, Policlinico A Gemelli, Rome, Italy
    Eur Arch Otorhinolaryngol 266:489-94. 2009
    ..Correlation between genotype and phenotype confirmed the high variability of hearing loss...
  42. pmc The mGluR5 antagonist AFQ056 does not affect methylation and transcription of the mutant FMR1 gene in vitro
    Elisabetta Tabolacci
    Istituto di Genetica Medica, Universita Cattolica del S, Cuore, Rome, Italy
    BMC Med Genet 13:13. 2012
    ....
  43. ncbi request reprint Expansion to full mutation of a FMR1 intermediate allele over two generations
    Alessandra Terracciano
    Institute of Medical Genetics, Catholic University, Rome, Italy
    Eur J Hum Genet 12:333-6. 2004
    ..Although we cannot exclude paternal mosaicism, it is likely that a rare event of progression from an intermediate to a premutated and on to a full mutated allele occurred in this family over two generations...
  44. ncbi request reprint Cryptic t(1;12)(q44;p13.3) translocation in a previously described syndrome with polymicrogyria, segregating as an apparently X-linked trait
    Marcella Zollino
    Istituto di Genetica Medica, Facolta di Medicina A Gemelli, UCSC, Rome, Italy
    Am J Med Genet A 117:65-71. 2003
    ..Thus, this condition is no longer to be considered X-linked, but the result of cryptic autosomal imbalance. Furthermore, this study identified an approximately 14 Mb interval in 1q44qter pathogenetically related to polymicrogyria...
  45. doi request reprint The FG syndrome from a pathological perspective
    Caterina Neri
    Istituto di Ginecologia e Ostetricia, Universita Cattolica del S Cuore, Rome, Italy
    Fetal Pediatr Pathol 30:71-6. 2011
    ..The propositus' phenotype did not suggest involvement of the MED12 gene...
  46. pmc Mapping the Wolf-Hirschhorn syndrome phenotype outside the currently accepted WHS critical region and defining a new critical region, WHSCR-2
    Marcella Zollino
    Istituto di Genetica Medica, Facolta di Medicina A Gemelli, Université Cattolica Sacro Cuore, Roma, Italy
    Am J Hum Genet 72:590-7. 2003
    ..On the basis of genotype-phenotype correlation analysis, dividing the WHS phenotype into two distinct clinical entities, a "classical" and a "mild" form, is recommended for the purpose of proper genetic counseling...
  47. ncbi request reprint Electroclinical patterns and evolution of epilepsy in the 4p- syndrome
    Domenica Battaglia
    Child Neurology and Psychiatry Medical Genetics Institute of Pediatrics, Catholic University, School of Medicine, Rome, Italy
    Epilepsia 44:1183-90. 2003
    ..Seizures occur in almost all the cases, but studies on the electroclinical disorder and its evolution are still scarce. We present a longitudinal study of the electroclinical features in 10 children with WHS...
  48. ncbi request reprint Limb anomalies: Developmental and evolutionary aspects
    Fiorella Gurrieri
    Institute of Medical Genetics, Catholic University of Rome, Largo F Vito 1, 00168 Rome, Italy
    Am J Med Genet 115:231-44. 2002
    ....
  49. ncbi request reprint Assisted reproductive technology and congenital overgrowth: some speculations on a case of Pallister-Killian syndrome
    P Chiurazzi
    Istituto di Genetica Medica, Facolta di Medicina A Gemelli, Universita Cattolica del S Cuore, Roma, Italy
    Am J Med Genet A 130:315-6. 2004
    ..More broadly, we hypothesize that overgrowth might protect from early demise fetuses conceived by ART, a technology known to cause low and very low birth weight...
  50. ncbi request reprint Genotype-phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome
    M Zollino
    Istituto di Genetica Medica, Facolta di Medicina A Gemelli, UCSC, Rome, Italy
    Am J Med Genet 94:254-61. 2000
    ..Based on these observations a "minimal" WHS phenotype was inferred, the clinical manifestations of which are restricted to the typical facial appearance, mild mental and growth retardation, and congenital hypotonia...
  51. ncbi request reprint Association between cyclin D1 (CCND1) gene amplification and human papillomavirus infection in human laryngeal squamous cell carcinoma
    P Cattani
    Institute of Microbiology, Catholic University Medical School, Rome, Italy
    Clin Cancer Res 4:2585-9. 1998
    ..This model could explain the involvement of high-risk HPV types in laryngeal carcinogenesis...
  52. ncbi request reprint Dosage analysis at the CSF1 and CSF1R loci in a new case of partial trisomy 5q
    M Genuardi
    Istituto di Genetica Umana, , Rome, Italy
    Clin Genet 41:259-62. 1992
    ..Since most manifestations of trisomy 5q3 are observed in patients with duplications spanning 5q34-qter, it seems that the critical sequences involved in phenotype determination lie within this very distal segment...
  53. ncbi request reprint Pervasive developmental disorder and epilepsy due to maternally derived duplication of 15q11-q13
    F Gurrieri
    Institute of Medical Genetics, Catholic University School of Medicine, Associazione Anni Verdi, Rome, Italy
    Neurology 52:1694-7. 1999
    ..Their findings suggest that this chromosomal region harbors genes for autism and possibly for partial epilepsy that may act in a dose-dependent manner...
  54. ncbi request reprint Mosaic trisomy 17 in amniocytes: phenotypic outcome, tissue distribution, and uniparental disomy studies
    M Genuardi
    Istituto di Genetica Medica, Facoltà di Medicina e Chirurgia A Gemelli, Universita Cattolica del S Cuore
    Eur J Hum Genet 7:421-6. 1999
    ..Case 2 also represents the first observation of maternal UPD involving chromosome 17; the absence of phenotypic anomalies in the child suggests that chromosome 17 is not likely to be subject to imprinting in maternal gametes...
  55. ncbi request reprint New syndrome of mental retardation, Robin sequence, and brachydactyly
    F Gurrieri
    Istituto di Genetica Medica, Universita Cattolica del S Cuore, Facolta di Medicina, Rome, Italy
    Am J Med Genet 100:49-51. 2001
    ....
  56. ncbi request reprint A novel microdeletion syndrome with loss of the MSH2 locus and hereditary non-polyposis colorectal cancer
    E Lucci-Cordisco
    Institute of Medical Genetics, Catholic University A Gemelli School of Medicine, Rome, Italy
    Clin Genet 67:178-82. 2005
    ..Since there are very few reports of deletions of the 2p16-p21 region, our observation sets the grounds for the definition of a novel multiple congenital anomaly/mental retardation/cancer microdeletion syndrome...
  57. ncbi request reprint Partial duplication of the long arm of chromosome 15: confirmation of a causative role in craniosynostosis and definition of a 15q25-qter trisomy syndrome
    M Zollino
    Istituto di Genetica Medica, Facolta di Medicina A Gemelli, Universita Cattolica del Sacro Cuore, Rome, Italy
    Am J Med Genet 87:391-4. 1999
    ..The present report confirms previous claims that gene(s) in the distal 15q region play a role in suture formation. At the same time it adds new data to the delineation of a 15q25-qter trisomy syndrome...
  58. ncbi request reprint Nonsyndromal overgrowth in males with mild psychomotor delay
    G Neri
    Istituto di Genetica Medica, Facolta di Medicina A Gemelli, Universita Cattolica, Rome, Italy
    Am J Med Genet 79:291-3. 1998
    ..The condition comprising excessive growth, developmental delay, muscular hypotonia, absence of a consistent pattern of physical anomalies, and apparently sporadic occurrence, largely limited to males, may be heterogenous...
  59. ncbi request reprint Clinical and molecular aspects of the Simpson-Golabi-Behmel syndrome
    G Neri
    Istituto di Genetica Medica, Facoltà de Medicina A Gemelli, Universita Cattolica, Roma, Italy
    Am J Med Genet 79:279-83. 1998
    ..It encodes an extracellular proteoglycan, designated glypican 3 (GPC3), capable of interacting with the insulin-like growth factor IGF2. At present, only deletions of various sizes have been found in a number of affected families...
  60. pmc A new susceptibility locus for migraine with aura in the 15q11-q13 genomic region containing three GABA-A receptor genes
    Luisa Russo
    Institute of Medical Genetics, Catholic University, Rome, Italy
    Am J Hum Genet 76:327-33. 2005
    ..54 between markers D15S113 and D15S1019). The critical region spanned 3.6 Mb. These results provide the basis for further investigation of the hypothesized relationship between a GABA-A receptor dysfunction and migraine...
  61. pmc Mild Beckwith-Wiedemann and severe long-QT syndrome due to deletion of the imprinting center 2 on chromosome 11p
    Fiorella Gurrieri
    Istituto di Genetica Medica, Universita Cattolica S Cuore, Roma, Italy
    Eur J Hum Genet 21:965-9. 2013
    ..In addition, our observation strongly suggests that in cases of LQTS due to mutation of the KCNQ1 gene (LQT1), an accurate clinical genetic evaluation should be done in order to program the most appropriate genetic tests. ..
  62. ncbi request reprint Understanding the biological underpinnings of fragile X syndrome
    Pietro Chiurazzi
    Institute of Medical Genetics, Catholic University, Rome, Italy
    Curr Opin Pediatr 15:559-66. 2003
    ..The molecular mechanisms underlying the syndrome are complex and continue to surprise researchers more than 12 years after the cloning of the gene...
  63. pmc Defective oxytocin function: a clue to understanding the cause of autism?
    Fiorella Gurrieri
    Institute of Medical Genetics, Catholic University School of Medicine, Rome, Italy
    BMC Med 7:63. 2009
    ..See the associated research paper by Gregory et al: http://www.biomedcentral.com/1741-7015/7/62...
  64. doi request reprint Morphology and immunophenotyping of a monolateral ovotestis in a 46,XderY/45,X mosaic individual with ambiguous genitalia
    Gian Franco Zannoni
    Department of Pathology, Faculty of Medicine A Gemelli, Catholic University of the Sacred Heart, Rome, Italy
    Int J Gynecol Pathol 29:33-8. 2010
    ..The presence of placental-like alkaline phosphatase-stained gonocytes indicates a high risk of malignant transformation, and justifies the surgical removal of the dysgenetic gonad. Fertility is unlikely...
  65. ncbi request reprint Mental retardation, Robin sequence, and brachydactyly: further confirmation of a new syndrome
    Fiorella Gurrieri
    Istituto di Genetica Medica, Universita Cattolica del S Cuore, Facolta di Medicina, Largo Francesco Vito 1, 00168 Rome, Italy
    Am J Med Genet A 126:204-7. 2004
    ..This new observation supports the existence of a new syndrome and expands the phenotypic spectrum of the condition...
  66. doi request reprint A double-blind, parallel, multicenter comparison of L-acetylcarnitine with placebo on the attention deficit hyperactivity disorder in fragile X syndrome boys
    M Giulia Torrioli
    Cattedra di Neuropsichiatria Infantile, Universita Cattolica, Rome, Italy
    Am J Med Genet A 146:803-12. 2008
    ..Our results show that LAC (20-50 mg/kg/day) represents a safe alternative to the use of stimulant drugs for the treatment of ADHD in FXS children...
  67. ncbi request reprint The euchromatic 9p+ polymorphism is a locus-specific amplification caused by repeated copies of a small DNA segment mapping within 9p12
    Rosetta Lecce
    Istituto di Genetica Medica, Universita Cattolica Sacro Cuore, Policlinico A Gemelli, Largo F Vito 1, 00168, Rome, Italy
    Hum Genet 118:760-6. 2006
    ..These results provide important insights both in the genetic counselling and in the prenatal diagnosis of rare euchromatic chromosome variants and in understanding the architecture of the human genome...
  68. doi request reprint XLMR genes: update 2007
    Pietro Chiurazzi
    Institute of Medical Genetics, Catholic University, Rome, Italy
    Eur J Hum Genet 16:422-34. 2008
    ..We briefly consider the molecular function of known XLMR proteins and discuss the possible strategies to identify the remaining XLMR genes. Final remarks are made on the natural history of XLMR conditions and on diagnostic issues...
  69. ncbi request reprint Prevalence of spinocerebellar ataxia type 2 mutation among Italian Parkinsonian patients
    Anna Modoni
    Department of Neuroscience, Catholic University, Rome, Italy
    Mov Disord 22:324-7. 2007
    ..These findings, together with literature data, suggest that the molecular intrinsic structure of the expanded allele may modulate the phenotypic expression of the SCA2 mutation...
  70. doi request reprint Rare missense variants of neuronal nicotinic acetylcholine receptor altering receptor function are associated with sporadic amyotrophic lateral sclerosis
    Mario Sabatelli
    Istituto di Neurologia, Universita Cattolica del Sacro Cuore, Roma, Italy
    Hum Mol Genet 18:3997-4006. 2009
    ....
  71. ncbi request reprint A split hand-split foot (SHFM3) gene is located at 10q24-->25
    F Gurrieri
    Institute of Medical Genetics, Catholic University of Rome, Italy
    Am J Med Genet 62:427-36. 1996
    ..Heterogeneity testing indicates the existence of at least one additional autosomal SHSF locus...
  72. ncbi request reprint Costello syndrome: further clinical delineation, natural history, genetic definition, and nosology
    G Zampino
    Istituto di Pediatria, Facolta di Medicina A Gemelli, Universita Cattolica, Rome, Italy
    Am J Med Genet 47:176-83. 1993
    ..Our aim is to better redefine the diagnostic criteria, describe the natural history, and confirm the genetic cause of the Costello syndrome, whose pattern of inheritance is most likely autosomal recessive...
  73. pmc Mapping of a gene for non-specific X linked mental retardation: evidence for linkage to chromosomal region Xp21.1-Xp22.3
    L Kozak
    Istituto di Genetica Medica, Facolta di Medicina A Gemelli, Universita Cattolica del S Cuore, Roma, Italy
    J Med Genet 30:866-9. 1993
    ..11 at theta = 0.00 was obtained with DXS164 and DXS278. The linked region spanned chromosomal bands Xp21.1-Xp22.3, that is, the same portion of the X chromosome where MRX2 and MRX10-13 have been previously localised...
  74. doi request reprint The FRAXopathies: definition, overview, and update
    Filomena Pirozzi
    Istituto di Genetica Medica, Universita Cattolica, Roma, Italy
    Am J Med Genet A 155:1803-16. 2011
    ..The understanding of these mechanisms is already generating promising therapeutic approaches...
  75. pmc Quantitative analysis of DNA demethylation and transcriptional reactivation of the FMR1 gene in fragile X cells treated with 5-azadeoxycytidine
    Roberta Pietrobono
    Istituto di Genetica Medica, Universita Cattolica, and Centro Ricerche per la Disabilità Mentale e Motoria, Associazione Anni Verdi, Largo F Vito 1, 00168 Rome, Italy
    Nucleic Acids Res 30:3278-85. 2002
    ..This may explain the quantitative discrepancy between the large extent of promoter demethylation and the limited levels of FMR1 transcriptional reactivation estimated by quantitative real-time fluorescent RT-PCR analysis...
  76. ncbi request reprint Absence of 12q21.2q22 deletions and subtelomeric rearrangements in cardiofaciocutaneous (CFC) syndrome patients
    M I Kavamura
    Istituto di Genetica Medica, Universita Cattolica del Sacro Cuore, Rome, Italy
    Am J Med Genet A 119:177-9. 2003
    ..To further evaluate the possibility of other chromosome imbalances, we performed a subtelomeric analysis, by FISH technique, of all chromosomes, and did not find any subtelomeric rearrangements...
  77. doi request reprint The Perlman syndrome: familial renal dysplasia with Wilms tumor, fetal gigantism and multiple congenital anomalies
    Giovanni Neri
    Department of Medical Genetics, Shodair Children s Hospital, Helena, MT Istituto di Genetica Umana, Facolta di Medicina A Gemelli, UCSC, Ospedale S Giovanni, Roma, Italy
    Am J Med Genet A 161:2691-6. 2013
    The ensuing paper by Professor Giovanni Neri and colleagues was originally published in 1984, American Journal of Medical Genetics 19:195–207...
  78. ncbi request reprint Phenylbutyrate increases SMN expression in vitro: relevance for treatment of spinal muscular atrophy
    Catia Andreassi
    Istituto di Genetica Medica, Universita Cattolica S Cuore, Largo F Vito 1, Rome 00168, Italy
    Eur J Hum Genet 12:59-65. 2004
    ..These data show that SMN expression is considerably increased by PBA, and suggest that the compound, owing also to its favorable pharmacological properties, could be a good candidate for the treatment of SMA...
  79. doi request reprint Epigenetic modifications of the FMR1 gene
    Elisabetta Tabolacci
    Facoltà di Medicina e Chirurgia A Gemelli, Istituto di Genetica Medica, Universita Cattolica del Sacro Cuore, Rome, Italy
    Methods Mol Biol 1010:141-53. 2013
    ..Here we describe the molecular methods used to study both DNA methylation and histone epigenetic modifications, namely, bisulfite sequencing and quantification of immunoprecipitated DNA after Chromatin Immunoprecipitation (ChIP)...
  80. pmc Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders
    Luigi Boccuto
    Greenwood Genetic Center, Greenwood, SC, USA
    Eur J Hum Genet 21:310-6. 2013
    ..This represents the first evidence of a genotype-phenotype correlation in ASDs and highlights the importance of a detailed clinical-neuropsychiatric evaluation for the effective genetic screening of ASD patients...
  81. ncbi request reprint X-linked mental retardation (XLMR): from clinical conditions to cloned genes
    Pietro Chiurazzi
    Institute of Medical Genetics, A Gemelli School of Medicine, Catholic University, Rome, Italy
    Crit Rev Clin Lab Sci 41:117-58. 2004
    ..Eventually, DNA and protein microarray technologies will assist researchers and physicians in reaching a diagnosis even in small families or in individual patients with XLMR...
  82. doi request reprint Hypo-phosphorylation of salivary peptidome as a clue to the molecular pathogenesis of autism spectrum disorders
    Massimo Castagnola
    Istituto di Biochimica e Biochimica Clinica, Facolta di Medicina, Universita Cattolica, Rome, Italy
    J Proteome Res 7:5327-32. 2008
    ..These results suggest that analysis of salivary phospho-peptides might help to discriminate a considerable subgroup of ASD patients...
  83. pmc A founder MLH1 mutation in families from the districts of Modena and Reggio-Emilia in northern Italy with hereditary non-polyposis colorectal cancer associated with protein elongation and instability
    O Caluseriu
    Department of Medical Genetics, A Gemelli School of Medicine, Catholic University, Rome, Italy
    J Med Genet 41:e34. 2004
  84. ncbi request reprint Premature termination mutations in exon 3 of the SMN1 gene are associated with exon skipping and a relatively mild SMA phenotype
    V Sossi
    Institute of Medical Genetics, Catholic University, Rome, Italy
    Eur J Hum Genet 9:113-20. 2001
    ..These findings suggest that the protein isoform lacking the exon 3 encoded region contributes to the formation of the nuclear protein complex which may account for the milder clinical phenotype...
  85. ncbi request reprint Familial microsatellite-stable non-polyposis colorectal cancer: incidence and characteristics in a clinic-based population
    V Rovella
    Department of Internal Medicine and Geriatrics, Catholic University School of Medicine A. Gemelli, Rome, Italy
    Ann Oncol 12:813-8. 2001
    ..CONCLUSIONS: These results define the existence of a subset of familial CRCs characterized by relatively late age at onset, high incidence of second primary tumors, and absence of MSI in tumor DNA...
  86. ncbi request reprint PTPN11 mutations are not responsible for the Cardiofaciocutaneous (CFC) syndrome
    M I Kavamura
    Istituto di Genetica Medica, Universita Cattolica del Sacro Cuore, Rome, Italy
    Eur J Hum Genet 11:64-8. 2003
    ..The genetic cause of CFC syndrome remains unknown, and PTPN11 can be reasonably excluded as a candidate gene for the CFC syndrome, which we regard as molecular evidence that CFC and Noonan syndromes are distinct genetic entities...
  87. ncbi request reprint Mesenchymal stromal cells multipotency and plasticity: induction toward the hepatic lineage
    N Saulnier
    Department of Internal Medicine and Gastroenterology, Catholic University of the Sacred Heart, Rome, Italy
    Eur Rev Med Pharmacol Sci 13:71-8. 2009
    ..In this study we have isolated MSCs from both adult and fetal tissues. Their growth, immunophenotype and multi-lineage differentiation potentials have been analyzed, focusing, in particular, on the hepatic differentiation...
  88. ncbi request reprint Mutations of the 'minor' mismatch repair gene MSH6 in typical and atypical hereditary nonpolyposis colorectal cancer
    E Lucci-Cordisco
    Institutes of Medical Genetics, A.Gemelli School of Medicine, Catholic University, Rome, Italy
    Fam Cancer 1:93-9. 2001
    ..The phenotypic variability associated with MSH6 constitutional mutations represents a complicating factor for the optimization of strategies aimed at identifying candidates to MSH6 genetic testing...
  89. ncbi request reprint [L-acetylcarnitine treatment on fragile X patients hyperactive behaviour]
    M Calvani
    , Sigma Tau S p A, Rome, Italy
    Rev Neurol 33:S65-70. 2001
    ..The objective of this study is to determine the effect of LAC on the hyperactive behaviour of FXS children as evaluated by the administration of the Conners Abbreviated Parent Questionnaire...
  90. ncbi request reprint CDKN2A germline splicing mutation affecting both p16(ink4) and p14(arf) RNA processing in a melanoma/neurofibroma kindred
    F Petronzelli
    Istituto di Genetica Medica, , , Largo Francesco Vito 1, 00168 Rome, Italy
    Genes Chromosomes Cancer 31:398-401. 2001
    ..The development of neurofibromas can be explained by cooperative effects of combined inactivation of p16(ink4) and p14(arf) or, alternatively, of p14(arf) alone...
  91. pmc The cardiofaciocutaneous syndrome
    A Roberts
    Harvard Medical School, Partners HealthCare System, Center for Genetics and Genomics, Boston, Massachusetts, USA
    J Med Genet 43:833-42. 2006
    ..The protein products of these genes also belong to the RAS-ERK pathway. Thus, the clinical overlap of these three conditions, which often poses a problem of differential diagnosis, is explained by their pathogenetic relatedness...
  92. ncbi request reprint Hirschsprung disease, mental retardation, characteristic facial features, and mutation in the gene ZFHX1B (SIP1): confirmation of the Mowat-Wilson syndrome
    L Garavelli
    Am J Med Genet A 116:385-8. 2003
  93. ncbi request reprint Mutation analysis of the MKKS gene in McKusick-Kaufman syndrome and selected Bardet-Biedl syndrome patients
    A M Slavotinek
    National Human Genome Research Institute, National Institutes of Health, Bldg 49 Room 4B75, 49 Convent Drive, Bethesda, MD 20895, USA
    Hum Genet 110:561-7. 2002
    ..The frequency of detected mutations in MKKS in Group II patients was 24%, i.e., six times higher than the published rate for unselected BBS patients, suggesting that small-scale linkage analyses may be useful in suitable families...
  94. ncbi request reprint Transitory hypogammaglobulinemia of infancy in FG syndrome
    A Finocchi
    Am J Med Genet A 138:396-8. 2005
  95. ncbi request reprint Genitourinary anomalies in Mowat-Wilson syndrome with deletion/mutation in the zinc finger homeo box 1B gene (ZFHX1B). Report of three Italian cases with hypospadias and review
    L Garavelli
    Department of Pediatrics and Genetic Unit, S Maria Nuova Hospital, Reggio Emilia, Italy
    Horm Res 63:187-92. 2005
    ..MWS should be considered by endocrinologists in patients with hypospadias associated with developmental delays/mental retardation, in particular in the presence of a distinct facial phenotype...
  96. ncbi request reprint Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome
    G Pilia
    Center for Genetics in Medicine, Washington University School of Medicine, St Louis, Missouri 63110, USA
    Nat Genet 12:241-7. 1996
    ..Initial western- and ligand-blotting experiments suggest that glypican 3 forms a complex with insulin-like growth factor 2 (IGF2), and might thereby modulate IGF2 action...
  97. ncbi request reprint Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth
    M Cecconi
    SC Genetica Umana, E O Ospedali Galliera, Genova, Italy
    Am J Med Genet A 134:247-53. 2005
    ..A high frequency of congenital heart defects was present in patients with intragenic mutations, supporting the relevance of the NSD1 gene in the pathogenesis of this particular defect...
  98. ncbi request reprint Mutations in transcriptional regulator ATRX establish the functional significance of a PHD-like domain
    R J Gibbons
    Nat Genet 17:146-8. 1997
  99. ncbi request reprint Solitary median maxillary central incisor syndrome: clinical case with a novel mutation of sonic hedgehog
    Livia Garavelli
    Department of Pediatrics and Clinical Genetics, S Maria Nuova Hospital, 80 42100 Reggio Emilia, Italy
    Am J Med Genet A 127:93-5. 2004
    ..SMMCI has also been found as an isolated finding or together with other anomalies such as microcephaly, short stature, endocrine pathology, and choanal atresia. We describe a patient with SMMCI and a novel SHH mutation: Val332Ala...
  100. doi request reprint Effects of ramipril and rosiglitazone on cardiovascular and renal outcomes in people with impaired glucose tolerance or impaired fasting glucose: results of the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) trial
    G R Dagenais
    Laval University Heart and Lung Institute, 2725 Chemin Ste Foy, Quebec, Quebec City, Canada
    Diabetes Care 31:1007-14. 2008
    ..We determined the effects of ramipril and rosiglitazone on combined and individual CVD and renal outcomes in people with IGT and/or IFG in the Diabetes REduction Assessment With ramipril and rosiglitazone Medication (DREAM) trial...
  101. ncbi request reprint Two novel mutations confirm FGD1 is responsible for the Aarskog syndrome
    C E Schwartz
    Center for Molecular Studies, JC Self Research Institute Greenwood Genetic Center, Greenwood, SC 29646, USA
    Eur J Hum Genet 8:869-74. 2000
    ..These mutations confirm the role of FGD1 as the gene responsible for the Aarskog syndrome...