F Brancati

Summary

Affiliation: San Giovanni Rotondo and CSS-Mendel Institute
Country: Italy

Publications

  1. ncbi request reprint Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome
    Enza Maria Valente
    Istituto di Ricovero e Cura a Carattere Scientifico, Casa Sollievo della Sofferenza, Mendel Institute, Viale Regina Margherita 261, 00198 Rome, Italy
    Nat Genet 38:623-5. 2006
  2. doi request reprint A 6-year-old child with Fryns syndrome: further delineation of the natural history of the condition in survivors
    Maria Lisa Dentici
    IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo and CSS Mendel Institute, viale Regina Margherita, 261, 00198 Rome, Italy
    Eur J Med Genet 52:421-5. 2009
  3. pmc De novo 13q13.3-21.31 deletion involving RB1 gene in a patient with hemangioendothelioma of the liver
    Novella Rapini
    Medical Genetics Unit, Policlinico Tor Vergata University Hospital, Viale Oxford, 81 00133 Rome, Italy
    Ital J Pediatr 40:5. 2014
  4. ncbi request reprint Nectinopathies: an emerging group of ectodermal dysplasia syndromes
    F Brancati
    Department of Medical, Oral and Biotechnological Sciences, Gabriele D Annunzio University of Chieti Pescara, Chieti, Italy
    G Ital Dermatol Venereol 148:59-64. 2013
  5. pmc Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI
    Andrea Poretti
    Department of Pediatric Neurology, University Children s Hospital of Zurich, Switzerland
    Orphanet J Rare Dis 7:4. 2012
  6. pmc Joubert Syndrome and related disorders
    Francesco Brancati
    Mendel Laboratory, Casa Sollievo della Sofferenza Hospital, IRCCS, San Giovanni Rotondo, Italy
    Orphanet J Rare Dis 5:20. 2010
  7. ncbi request reprint Recurrent triploidy of maternal origin
    Francesco Brancati
    CSS Hospital, IRCCS, San Giovanni Rotondo and CSS Mendel Institute, Rome, Italy
    Eur J Hum Genet 11:972-4. 2003
  8. pmc Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome
    Francesco Brancati
    Department of Biomedical Sciences, Gabriele d Annunzio University, Chieti, Italy
    Am J Hum Genet 87:265-73. 2010
  9. pmc Severe infantile hyperkalaemic periodic paralysis and paramyotonia congenita: broadening the clinical spectrum associated with the T704M mutation in SCN4A
    F Brancati
    Department of Experimental Medicine and Pathology, La Sapienza University, Rome, Italy
    J Neurol Neurosurg Psychiatry 74:1339-41. 2003
  10. pmc KBG syndrome
    Francesco Brancati
    CSS Hospital, IRCCS, San Giovanni Rotondo and CSS Mendel Institute, Rome, Italy
    Orphanet J Rare Dis 1:50. 2006

Detail Information

Publications46

  1. ncbi request reprint Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome
    Enza Maria Valente
    Istituto di Ricovero e Cura a Carattere Scientifico, Casa Sollievo della Sofferenza, Mendel Institute, Viale Regina Margherita 261, 00198 Rome, Italy
    Nat Genet 38:623-5. 2006
    ..CEP290 expression was detected mostly in proliferating cerebellar granule neuron populations and showed centrosome and ciliary localization, linking JSRDs to other human ciliopathies...
  2. doi request reprint A 6-year-old child with Fryns syndrome: further delineation of the natural history of the condition in survivors
    Maria Lisa Dentici
    IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo and CSS Mendel Institute, viale Regina Margherita, 261, 00198 Rome, Italy
    Eur J Med Genet 52:421-5. 2009
    ..These manifestations are representative of the natural history of this condition and should also be searched for in FS survivors...
  3. pmc De novo 13q13.3-21.31 deletion involving RB1 gene in a patient with hemangioendothelioma of the liver
    Novella Rapini
    Medical Genetics Unit, Policlinico Tor Vergata University Hospital, Viale Oxford, 81 00133 Rome, Italy
    Ital J Pediatr 40:5. 2014
    ..Array analysis allowed us to define a deleted region of about 27.87 Mb, which includes the RB1 gene. This is the first report of a 13q deletion associated with infantile hemangioendothelioma of the liver...
  4. ncbi request reprint Nectinopathies: an emerging group of ectodermal dysplasia syndromes
    F Brancati
    Department of Medical, Oral and Biotechnological Sciences, Gabriele D Annunzio University of Chieti Pescara, Chieti, Italy
    G Ital Dermatol Venereol 148:59-64. 2013
    ..We propose refer to these entities (nectin 1-ED and nectin 4-ED) as "nectinopathies", which are likely to be underestimated/underdiagnosed ED syndomes...
  5. pmc Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI
    Andrea Poretti
    Department of Pediatric Neurology, University Children s Hospital of Zurich, Switzerland
    Orphanet J Rare Dis 7:4. 2012
    ....
  6. pmc Joubert Syndrome and related disorders
    Francesco Brancati
    Mendel Laboratory, Casa Sollievo della Sofferenza Hospital, IRCCS, San Giovanni Rotondo, Italy
    Orphanet J Rare Dis 5:20. 2010
    ..After the first months of life, global prognosis varies considerably among JSRD subgroups, depending on the extent and severity of organ involvement...
  7. ncbi request reprint Recurrent triploidy of maternal origin
    Francesco Brancati
    CSS Hospital, IRCCS, San Giovanni Rotondo and CSS Mendel Institute, Rome, Italy
    Eur J Hum Genet 11:972-4. 2003
    ..Here, we report on a woman who underwent three consecutive triploid pregnancies, in two of which maternal origin of triploidy was proved by molecular analysis...
  8. pmc Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome
    Francesco Brancati
    Department of Biomedical Sciences, Gabriele d Annunzio University, Chieti, Italy
    Am J Hum Genet 87:265-73. 2010
    ..Together with cleft lip and/or palate ectodermal dysplasia (CLPED1, or Zlotogora-Ogur syndrome) due to an impaired function of nectin-1, EDSS is the second known "nectinopathy" caused by mutations in a nectin adhesion molecule...
  9. pmc Severe infantile hyperkalaemic periodic paralysis and paramyotonia congenita: broadening the clinical spectrum associated with the T704M mutation in SCN4A
    F Brancati
    Department of Experimental Medicine and Pathology, La Sapienza University, Rome, Italy
    J Neurol Neurosurg Psychiatry 74:1339-41. 2003
    ..These data further broaden the clinical spectrum of T704M and support the evidence that this mutation is a common cause of hyperPP/PMC...
  10. pmc KBG syndrome
    Francesco Brancati
    CSS Hospital, IRCCS, San Giovanni Rotondo and CSS Mendel Institute, Rome, Italy
    Orphanet J Rare Dis 1:50. 2006
    ..Subsequent management and follow-up should include an EEG, complete orthodontic evaluation, skeletal investigation with particular regard to spine curvatures and limb asymmetry, hearing testing and ophthalmologic assessment...
  11. doi request reprint Expanding CEP290 mutational spectrum in ciliopathies
    Lorena Travaglini
    CSS Mendel Institute, Casa Sollievo della Sofferenza Hospital, Rome, Italy
    Am J Med Genet A 149:2173-80. 2009
    ..Although this mechanism does not appear to be frequent, screening for genomic rearrangements should be considered in patients in whom a single CEP290 mutated allele was identified...
  12. pmc CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders
    Francesco Brancati
    IRCCS CSS, Mendel Institute, Viale Regina Margherita 261, 00198, Rome, Italy
    Am J Hum Genet 81:104-13. 2007
    ..One patient with mutation displayed complete situs inversus, confirming the clinical and genetic overlap between JSRDs and other ciliopathies...
  13. pmc RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders
    F Brancati
    Istituto di Ricovero e Cura a Carattere Scientifico, CSS Mendel Institute, Rome, Italy
    Clin Genet 74:164-70. 2008
    ..Conversely, no pathogenic changes were found in patients with other JSRD phenotypes, suggesting that RPGRIP1L mutations are largely confined to the cerebello-renal subgroup, while they overall represent a rare cause of JSRD (<2%)...
  14. doi request reprint Genotypes and phenotypes of Joubert syndrome and related disorders
    Enza Maria Valente
    IRCCS CSS Mendel Institute, Neurogenetics Unit, Viale Regina Margherita 261, 00198 Rome, Italy
    Eur J Med Genet 51:1-23. 2008
    ..We also discuss the emerging clinical and genetic overlap between JSRDs and a growing number of distinct syndromes that share a common pathogenetic mechanism that is the loss of normal function of the primary cilium and its apparatus...
  15. pmc Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes
    Enza Maria Valente
    Mendel Laboratory, Istituto di Ricovero e Cura a Carattere Scientifico Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy
    Nat Genet 42:619-25. 2010
    ..These data implicate a new family of proteins in the ciliopathies and further support allelism between ciliopathy disorders...
  16. ncbi request reprint Novel locus for autosomal dominant pure hereditary spastic paraplegia (SPG19) maps to chromosome 9q33-q34
    Enza Maria Valente
    Neurogenetics, C S S Mendel Institute, Viale Regina Margherita 261, I 00168 Rome, Italy
    Ann Neurol 51:681-5. 2002
    ..Urinary disturbances (urgency and/or incontinence) were always present, even in young patients with a short disease history...
  17. pmc Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation
    Enza Maria Valente
    IRCCS CSS, San Giovanni Rotondo and CSS Mendel, Rome, Italy
    Am J Hum Genet 73:663-70. 2003
    ..The acronym "CORS" is proposed for all loci associated with JS, CORSs, and related phenotypes sharing the MTI, because this neuroradiological sign seems to be the unifying feature of these clinically heterogeneous syndromes...
  18. ncbi request reprint KBG syndrome in a cohort of Italian patients
    Francesco Brancati
    CSS Hospital, IRCCS, San Giovanni Rotondo and CSS Mendel Institute, Rome, Italy
    Am J Med Genet A 131:144-9. 2004
    ..Less common manisfestations were posterior fossa malformations, eye defects, and congenital heart defects...
  19. pmc Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies
    Miriam Iannicelli
    Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo and CSS Mendel Institute, Viale Regina Margherita 261, Rome, Italy
    Hum Mutat 31:E1319-31. 2010
    ..These exons encode for a region of unknown function in the extracellular domain of meckelin...
  20. pmc MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement
    Francesco Brancati
    IRCCS CSS Mendel Institute, Rome, Italy
    Hum Mutat 30:E432-42. 2009
    ..These data confirm COACH as a distinct JSRD subgroup with core features of JS plus CHF, which major gene is MKS3, and further strengthen gene-phenotype correlates in JSRDs...
  21. ncbi request reprint A novel homozygous splice site mutation in the HPGD gene causes mild primary hypertrophic osteoarthropathy
    L Sinibaldi
    CSS Mendel Institute, Casa Sollievo della Sofferenza Hospital, Rome, Italy
    Clin Exp Rheumatol 28:153-7. 2010
    ..In order to expand this mutational spectrum and better delineate the HPGD-related phenotype, we report the clinical and molecular characterisation of a 13-year-old boy and compare his features to known mutated patients...
  22. doi request reprint PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrum
    Roberta Marongiu
    IRCCS CSS Mendel Institute, Rome, Italy
    Hum Mutat 29:565. 2008
    ..Hence, their significance should be kept distinct from that of homozygous/compound heterozygous mutations, that cause parkinsonism inherited in a mendelian fashion...
  23. ncbi request reprint PARK6-linked parkinsonism occurs in several European families
    Enza Maria Valente
    Institute for Medical Genetics C S S Mendel, Rome, Italy
    Ann Neurol 51:14-8. 2002
    ..PARK6 appears to be an important locus for early-onset parkinsonism in European Parkin-negative patients...
  24. doi request reprint Clinical, neuropsychological, neurophysiologic, and genetic features of a new Italian pedigree with familial cortical myoclonic tremor with epilepsy
    Antonio Suppa
    Department of Neurological Sciences, Sapienza University of Rome, Rome, Italy
    Epilepsia 50:1284-8. 2009
    ..Linkage analysis excluded the 8q24 locus, where patients shared a common haplotype spanning 14.5 Mb in the pericentromeric region of chromosome 2...
  25. ncbi request reprint Novel Italian family supports clinical and genetic heterogeneity of primary adult-onset torsion dystonia
    Francesco Brancati
    Istituto C S S Mendel, Rome, Italy
    Mov Disord 17:392-7. 2002
    ..These findings support genetic heterogeneity of PTD and indicate that a novel unassigned gene is responsible for focal dystonia in this family...
  26. ncbi request reprint Ablepharon-macrostomia syndrome in a 46-year-old woman
    Francesco Brancati
    CSS Hospital, IRCCS, San Giovanni Rotondo and CSS Mendel Institute, Viale Regina Margherita 261, I 00198 Rome, Italy
    Am J Med Genet A 127:96-8. 2004
    ..A clinical comparison between our patient and previously reported AMS cases aids in delineating the adult phenotype of AMS and further broadens the clinical spectrum of this condition...
  27. ncbi request reprint Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosum
    C Casali
    Department of Neurology and ORL, La Sapienza University, Rome, Italy
    Neurology 62:262-8. 2004
    ..A recessive HSP locus (SPG11) has also been mapped to chromosome 15q13-15 in Italian and North American families with and without TCC, and it overlaps the region identified in the Japanese families...
  28. ncbi request reprint A novel family with an unusual early-onset generalized dystonia
    Giovanni Fabbrini
    Department of Neurological Sciences, University La Sapienza, Rome, Italy
    Mov Disord 20:81-6. 2005
    ..The condition we describe could be a newly recognized dystonia syndrome with parkinsonism...
  29. ncbi request reprint A novel locus for autosomal dominant cone and cone-rod dystrophies maps to the 6p gene cluster of retinal dystrophies
    Marco Castori
    Istituto di Ricovero e Cura a Carattere Scientifico Casa Sollievo della Sofferenza IRCCS CSS, Mendel Institute, Rome, Italy
    Invest Ophthalmol Vis Sci 46:3539-44. 2005
    ..To characterize clinically and genetically a four-generation Italian family with autosomal dominant retinal dystrophy...
  30. ncbi request reprint Majewski osteodysplastic primordial dwarfism type II (MOPD II) complicated by stroke: clinical report and review of cerebral vascular anomalies
    Francesco Brancati
    Department of Biological Sciences, University G D Annunzio, Chieti, Italy
    Am J Med Genet A 139:212-5. 2005
    ..Review of 16 published patients with CVA affected by either Seckel syndrome or MOPD II suggested that CVA is preferentially associated to the latter subtype affecting about 1/4 of the patients...
  31. ncbi request reprint Antenatal presentation of the oculo-auriculo-vertebral spectrum (OAVS)
    Marco Castori
    IRCCS CSS San Giovanni Rotondo and CSS Mendel Institute, Rome, Italy
    Am J Med Genet A 140:1573-9. 2006
    ..In addition, prognosis of prenatally detected OAVS patients resulted more severe than generally observed in this condition...
  32. ncbi request reprint Reticulate vascular lesions and a large head
    Marco Castori
    IRCCS C S S San Giovanni Rotondo and C S S Mendel Institute, Rome, Italy
    Pediatr Dermatol 24:555-6. 2007
  33. ncbi request reprint Whole gene deletion and splicing mutations expand the PINK1 genotypic spectrum
    Roberta Marongiu
    IRCCS CSS Mendel Institute, Rome, Italy
    Hum Mutat 28:98. 2007
    ..15445_15467del23) which produces several aberrant mRNAs. This report expands the genotypic spectrum of PINK1 mutations, with relevant implications for molecular analysis of this gene...
  34. doi request reprint Abnormal neuronal migration defect in the severe variant subtype of Adams-Oliver syndrome
    Francesco Brancati
    CSS IRCCS, Mendel Institute, Rome, Italy
    Am J Med Genet A 146:1622-3. 2008
  35. ncbi request reprint Primary hypothyroidism and osteopenia associated with Neuhauser syndrome
    Anna Sarkozy
    Department of Molecular Medicine and Pathology, University La Sapienza, Rome, Italy
    Am J Med Genet 111:412-4. 2002
    ..These symptoms, previously reported in single patients, could be discrete features of MMR syndrome...
  36. ncbi request reprint A novel patient with Cooks syndrome supports splitting from "classic" brachydactyly type B
    Marco Castori
    IRCCS C S S San Giovanni Rotondo and C S S Mendel Institute, Rome, Italy
    Am J Med Genet A 143:195-9. 2007
    ..Also, radial and ulnar rays are similarly affected. The CS clinical spectrum is expanded to include ungueal tumor-like lesions, observed in the present patient...
  37. doi request reprint Mutation screening of the DYT6/THAP1 gene in Italy
    Monica Bonetti
    IRCCS Casa Sollievo della Sofferenza, CSS Mendel Institute, Rome, Italy
    Mov Disord 24:2424-7. 2009
    ..Our findings expand the genotypic spectrum of THAP1 and strengthen the association with upper body involvement, including the cranial and cervical districts that are usually spared in DYT1-PTD...
  38. ncbi request reprint AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders
    Enza Maria Valente
    Istituto di Ricovero e Cura a Carattere Scientifico, Casa Sollievo della Sofferenza, Mendel Institute, Rome, Italy
    Ann Neurol 59:527-34. 2006
    ..The frequency of mutations in the first positionally cloned gene, AHI1, is unknown...
  39. ncbi request reprint Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients
    Francesca Simonelli
    Department of Ophthalmology, Second University of Naples, Naples, Italy
    Invest Ophthalmol Vis Sci 48:4284-90. 2007
    ..To identify the molecular basis of Leber's congenital amaurosis (LCA) in a cohort of Italian patients and to perform genotype-phenotype analysis...
  40. pmc Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome
    Vincent Cantagrel
    Department of Neurosciences, Laboratory of Neurogenetics, Howard Hughes Medical Institute, University of California, San Diego, 9500 Gilman Drive, La Jolla, CA 92093 0691, USA
    Am J Hum Genet 83:170-9. 2008
    ..Overexpression of human wild-type but not patient mutant ARL13B rescued the Arl13b scorpion zebrafish mutant. Thus, ARL13B has an evolutionarily conserved role mediating cilia function in multiple organs...
  41. ncbi request reprint Clinical and molecular characterization of Italian patients affected by Cohen syndrome
    Eleni Katzaki
    Medical Genetics, Department of Molecular Biology, University of Siena, V Le Bracci 2, 53100 Siena, Italy
    J Hum Genet 52:1011-7. 2007
    ..Given the geographical conformation of this region, which is neither geographically or culturally isolated, a recent origin of the mutation could be hypothesized...
  42. ncbi request reprint Assessing the role of DRD5 and DYT1 in two different case-control series with primary blepharospasm
    Jordi Clarimon
    Molecular Genetics Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA
    Mov Disord 22:162-6. 2007
    ..These data suggest that further examination is warranted of the role genetic variability at this locus plays in the risk for primary dystonia...
  43. ncbi request reprint Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations
    Nicole Revencu
    Laboratory of Human Molecular Genetics, de Duve Institute, Universite Catholique de Louvain, Brussels, Belgium
    Hum Mutat 29:959-65. 2008
    ..Finally, some CM-AVM patients had neural tumors reminiscent of neurofibromatosis type 1 or 2. This is the first extensive study on the phenotypes associated with RASA1 mutations, and unravels their wide heterogeneity...
  44. ncbi request reprint Multiplex ligation-dependent probe amplification assay for simultaneous detection of Parkinson's disease gene rearrangements
    Oronzo Scarciolla
    Aging Research Center, CeSI, University G D Annunzio, Chieti, Italy
    Mov Disord 22:2274-8. 2007
    ..Thus, the use of this novel platform can improve the analysis of such mutations, facilitating comprehensive genetic testing in PD and EOP...
  45. ncbi request reprint Analysis of the epsilon-sarcoglycan gene in familial and sporadic myoclonus-dystonia: evidence for genetic heterogeneity
    Enza Maria Valente
    C S S Mendel Institute, San Giovanni Rotondo and Rome, Italy
    Mov Disord 18:1047-51. 2003
    ..No mutations were found. This study suggests that epsilon-sarcoglycan does not play an important role in sporadic myoclonus-dystonia and supports genetic heterogeneity in familial cases...
  46. ncbi request reprint Familial blepharospasm is inherited as an autosomal dominant trait and relates to a novel unassigned gene
    Giovanni Defazio
    Department of Neurological and Psychiatric Sciences, University of Bari, Bari, Italy
    Mov Disord 18:207-12. 2003
    ..These findings suggest that primary familial adult-onset BSP is a distinct entity among inherited PTD and is caused by a novel, unmapped gene...