Marco Castori

Summary

Affiliation: Istituto Dermopatico dell'Immacolata
Country: Italy

Publications

  1. ncbi request reprint Pai syndrome: first patient with agenesis of the corpus callosum and literature review
    Marco Castori
    Laboratory of Molecular and Cell Biology, IDI IRCCS, Rome, Italy
    Birth Defects Res A Clin Mol Teratol 79:673-9. 2007
  2. doi request reprint VACTERL association and maternal diabetes: a possible causal relationship?
    Marco Castori
    Laboratory of Molecular and Cell Biology, IDI IRCCS, Rome, Italy
    Birth Defects Res A Clin Mol Teratol 82:169-72. 2008
  3. ncbi request reprint Association of segmental neurofibromatosis 1 and oculo-auriculo-vertebral spectrum in a 24-year-old female
    Marco Castori
    Medical Genetics, Experimental Medicine Department, University La Sapienza, S Camillo Forlanini Hospital, Rome, Italy
    Eur J Dermatol 18:22-5. 2008
  4. doi request reprint Phacomatosis cesioflammea with unilateral lipohypoplasia
    Marco Castori
    Laboratory of Molecular and Cell Biology, IDI IRCCS, Rome, Italy
    Am J Med Genet A 146:492-5. 2008
  5. doi request reprint Tibial developmental field defect is the most common lower limb malformation pattern in VACTERL association
    Marco Castori
    Medical Genetics, Experimental Medicine Department, Sapienza University of Rome, S Camillo Forlanini Hospital, Rome, Italy
    Am J Med Genet A 146:1259-66. 2008
  6. doi request reprint Schöpf-Schulz-Passarge syndrome: further delineation of the phenotype and genetic considerations
    Marco Castori
    Laboratory of Molecular and Cell Biology, Rome Italy
    Acta Derm Venereol 88:607-12. 2008
  7. doi request reprint Analysis of the miR-34a locus in 62 patients with familial cutaneous melanoma negative for CDKN2A/CDK4 screening
    Angela M Cozzolino
    Medical Genetics, Department of Molecular Medicine, San Camillo Forlanini Hospital, Sapienza University, Circonvallazione Gianicolense, 87, 00152, Rome, Italy
    Fam Cancer 11:201-8. 2012
  8. doi request reprint A rare cause of syndromic hypotrichosis: Nicolaides-Baraitser syndrome
    Marco Castori
    Medical Genetics, Experimental Medicine Department, Sapienza University of Rome, San Camillo Forlanini Hospital, Rome, Italy
    J Am Acad Dermatol 59:S92-8. 2008
  9. doi request reprint Management of pain and fatigue in the joint hypermobility syndrome (a.k.a. Ehlers-Danlos syndrome, hypermobility type): principles and proposal for a multidisciplinary approach
    Marco Castori
    Division of Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo Forlanini Hospital, Rome, Italy
    Am J Med Genet A 158:2055-70. 2012
  10. doi request reprint Gynecologic and obstetric implications of the joint hypermobility syndrome (a.k.a. Ehlers-Danlos syndrome hypermobility type) in 82 Italian patients
    Marco Castori
    Division of Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo Forlanini Hospital, Rome, Italy
    Am J Med Genet A 158:2176-82. 2012

Collaborators

Detail Information

Publications47

  1. ncbi request reprint Pai syndrome: first patient with agenesis of the corpus callosum and literature review
    Marco Castori
    Laboratory of Molecular and Cell Biology, IDI IRCCS, Rome, Italy
    Birth Defects Res A Clin Mol Teratol 79:673-9. 2007
    ..Its entire clinical spectrum is still poorly delineated and the etiology remains unknown...
  2. doi request reprint VACTERL association and maternal diabetes: a possible causal relationship?
    Marco Castori
    Laboratory of Molecular and Cell Biology, IDI IRCCS, Rome, Italy
    Birth Defects Res A Clin Mol Teratol 82:169-72. 2008
    ..e., the association of vertebral and cardiac defects, tracheo-esophageal fistula, renal/radial malformations, and other limb anomalies) and maternal diabetes has not been sufficiently emphasized in the literature...
  3. ncbi request reprint Association of segmental neurofibromatosis 1 and oculo-auriculo-vertebral spectrum in a 24-year-old female
    Marco Castori
    Medical Genetics, Experimental Medicine Department, University La Sapienza, S Camillo Forlanini Hospital, Rome, Italy
    Eur J Dermatol 18:22-5. 2008
    ..The spatial relationship between craniofacial and skin pigmentary anomalies has prompted us to speculate about the possible underlying pathogenetic mechanism (s)...
  4. doi request reprint Phacomatosis cesioflammea with unilateral lipohypoplasia
    Marco Castori
    Laboratory of Molecular and Cell Biology, IDI IRCCS, Rome, Italy
    Am J Med Genet A 146:492-5. 2008
    ..The patchy distribution of lipohypoplasia and its spatial relationship with vascular lesions strongly support the hypothesis of a postzygotic recombination event...
  5. doi request reprint Tibial developmental field defect is the most common lower limb malformation pattern in VACTERL association
    Marco Castori
    Medical Genetics, Experimental Medicine Department, Sapienza University of Rome, S Camillo Forlanini Hospital, Rome, Italy
    Am J Med Genet A 146:1259-66. 2008
    ..Careful search of lower limb anomalies of the "tibial type" is, therefore, indicated in all patients with multiple polytopic developmental field defects...
  6. doi request reprint Schöpf-Schulz-Passarge syndrome: further delineation of the phenotype and genetic considerations
    Marco Castori
    Laboratory of Molecular and Cell Biology, Rome Italy
    Acta Derm Venereol 88:607-12. 2008
    ..The benign disease course and advanced age at diagnosis could also suggest locus homogeneity for a recessive mutation with instances of pseudodominant inheritance...
  7. doi request reprint Analysis of the miR-34a locus in 62 patients with familial cutaneous melanoma negative for CDKN2A/CDK4 screening
    Angela M Cozzolino
    Medical Genetics, Department of Molecular Medicine, San Camillo Forlanini Hospital, Sapienza University, Circonvallazione Gianicolense, 87, 00152, Rome, Italy
    Fam Cancer 11:201-8. 2012
    ..A function as phenotypic modulator in familial melanoma cannot be excluded...
  8. doi request reprint A rare cause of syndromic hypotrichosis: Nicolaides-Baraitser syndrome
    Marco Castori
    Medical Genetics, Experimental Medicine Department, Sapienza University of Rome, San Camillo Forlanini Hospital, Rome, Italy
    J Am Acad Dermatol 59:S92-8. 2008
    ..Literature review was carried out to better define the NBS clinical spectrum and to perform an in-depth differential diagnosis with other malformation syndromes presenting with congenital hypotrichosis...
  9. doi request reprint Management of pain and fatigue in the joint hypermobility syndrome (a.k.a. Ehlers-Danlos syndrome, hypermobility type): principles and proposal for a multidisciplinary approach
    Marco Castori
    Division of Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo Forlanini Hospital, Rome, Italy
    Am J Med Genet A 158:2055-70. 2012
    ..Available treatment options are discussed in the set of a structured multidisciplinary approach based on reliable outcome tools...
  10. doi request reprint Gynecologic and obstetric implications of the joint hypermobility syndrome (a.k.a. Ehlers-Danlos syndrome hypermobility type) in 82 Italian patients
    Marco Castori
    Division of Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo Forlanini Hospital, Rome, Italy
    Am J Med Genet A 158:2176-82. 2012
    ..3%), deep venous thrombosis (4.2%), and coccyx dislocation (1.4%). Prolapses were the most clinically relevant complication and associated with episiotomy. Gathered data were discussed for practically oriented considerations...
  11. ncbi request reprint Symptom and joint mobility progression in the joint hypermobility syndrome (Ehlers-Danlos syndrome, hypermobility type)
    Marco Castori
    Department of Molecular Medicine, Sapienza University, San Camillo Forlanini Hospital, Rome, Italy
    Clin Exp Rheumatol 29:998-1005. 2011
    ..To evaluate progression of symptoms and joint mobility in the joint hypermobility syndrome (JHS) in order to identify specific disease pictures by age at presentation...
  12. doi request reprint Clinical features predicting identification of CDKN2A mutations in Italian patients with familial cutaneous melanoma
    Lucia Pedace
    Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo Forlanini Hospital, Rome, Italy
    Cancer Epidemiol 35:e116-20. 2011
    ..The contribution of each of them was quantified accordingly, with MPM being the most significant. These findings confirm previous data and add novel insights for the role of accurate patients' selection in CDKN2A screening...
  13. doi request reprint Fontaine-Farriaux syndrome: a recognizable craniosynostosis syndrome with nail, skeletal, abdominal, and central nervous system anomalies
    Marco Castori
    Experimental Medicine Department, Medical Genetics, Sapienza University of Rome, San Camillo Forlanini Hospital, Rome, Italy
    Am J Med Genet A 149:2193-9. 2009
    ..An in-depth differential diagnosis with other partially overlapping conditions is carried out...
  14. doi request reprint Late diagnosis of lateral meningocele syndrome in a 55-year-old woman with symptoms of joint instability and chronic musculoskeletal pain
    Marco Castori
    Division of Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo Forlanini Hospital, Rome, Italy
    Am J Med Genet A 164:528-34. 2014
    ..2013 Wiley Periodicals, Inc. ..
  15. doi request reprint Monozygotic twin discordance for phacomatosis cesioflammea further supports the post-zygotic mutation hypothesis
    Marco Castori
    Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo Forlanini Hospital, Rome, Italy
    Am J Med Genet A 155:2253-6. 2011
    ..Speculations about mechanisms linked to phenotypic discrepancies among identical twins were also put forward...
  16. doi request reprint Jejunal atresia and anterior chamber anomalies: Further delineation of the Strømme syndrome
    Marco Castori
    Medical Genetics, Department of Experimental Medicine, Sapienza University, San Camillo Forlanini Hospital, Rome, Italy
    Eur J Med Genet 53:149-52. 2010
    ..The ocular phenotype comprises a wide range of anterior chamber anomalies with sclerocornea/corneal leukoma being the most common...
  17. doi request reprint Systematized organoid epidermal nevus with eccrine differentiation, multiple facial and oral congenital scars, gingival synechiae, and blepharophimosis: a novel epidermal nevus syndrome
    Marco Castori
    Medical Genetics, Department of Experimental Medicine, Sapienza University, San Camillo Forlanini Hospital, Circ ne Gianicolense, 87, I 00152 Rome, Italy
    Am J Med Genet A 152:25-31. 2010
    ....
  18. doi request reprint Palmoplantar keratoderma, pseudo-ainhum, and universal atrichia: A new patient and review of the palmoplantar keratoderma-congenital alopecia syndrome
    Marco Castori
    Medical Genetics, Department of Experimental Medicine, Sapienza University of Rome, San Camillo Forlanini Hospital, Rome, Italy
    Am J Med Genet A 152:2043-7. 2010
    ..Nuclear cataract may represent an additional although not constant finding in the Wallis type PPK-CA. Further reports are required to test this preliminary conclusion...
  19. doi request reprint Molecular characterization of 11 Italian patients with Darier disease
    Lucia Pedace
    Department of Molecular Medicine, Sapienza University, San Camillo Forlanini Hospital, Rome, Italy
    Eur J Dermatol 21:334-8. 2011
    ..2935_2949dup15) and 1 splice-site mutation (c.2742-1G>A), were novel. Collected data added new variants to the ATP2A2 repertoire and confirmed that ATP2A2 mutations are scattered over the entire gene and, in most cases, private...
  20. doi request reprint Use of the Gait Profile Score for the evaluation of patients with joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type
    Claudia Celletti
    Physical Medicine and Rehabilitation Division, Orthopaedic Department, Umberto I Hospital, Sapienza University, Rome, Italy
    Res Dev Disabil 34:4280-5. 2013
    ..56; p<0.05) and 12 ("Walking a mile") of LEFS (ρ=-0.76; p<0.05). Our results showed that GPS and GVS seem to be appropriate outcome measures for the evaluation of the functional limitation during gait of patients with JHS/EDS-HT...
  21. pmc Prenatal diagnosis and post-mortem examination in a fetus with thrombocytopenia-absent radius (TAR) syndrome due to compound heterozygosity for a 1q21.1 microdeletion and a RBM8A hypomorphic allele: a case report
    Irene Bottillo
    Department of Molecular Medicine, Medical Genetics, San Camillo Forlanini Hospital, Sapienza University, Rome, Italy
    BMC Res Notes 6:376. 2013
    ..At the moment, the complete molecular characterization of thrombocytopenia-absent radius syndrome is limited to a handful of patients mostly ascertained in the pediatric age..
  22. doi request reprint Relationship between fatigue and gait abnormality in joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type
    Claudia Celletti
    Physical Medicine and Rehabilitation Division, Orthopaedic Department, Umberto I Hospital, Sapienza University, Rome, Italy
    Res Dev Disabil 33:1914-8. 2012
    ....
  23. doi request reprint Ocular features in joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type: a clinical and in vivo confocal microscopy study
    Magda Gharbiya
    Department of Ophthalmology, Sapienza University, Umberto I Hospital, Rome, Italy
    Am J Ophthalmol 154:593-600.e1. 2012
    ..To investigate ocular anomalies in joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type (JHS/EDS-HT)...
  24. doi request reprint Whorled hairless nevus of the scalp, linear hyperpigmentation, and telangiectatic nevi of the lower limbs: a novel variant of the "phacomatosis complex"
    Marco Castori
    Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo Forlanini Hospital, Rome, Italy
    Am J Med Genet A 158:445-9. 2012
    ....
  25. pmc Functional characterization of a novel TP63 mutation in a family with overlapping features of Rapp-Hodgkin/AEC/ADULT syndromes
    Valeria Serra
    IDI IRCCS Biochemistry Laboratory, c o Department of Experimental Medicine, University of Tor Vergata, Rome, Italy
    Am J Med Genet A 155:3104-9. 2011
    ..These results demonstrated complex behavior of c.1697delG in the TA of genes involved in epidermal differentiation and development and shed further light in the physiopathology of TP63-related disorders...
  26. doi request reprint Sirenomelia and VACTERL association in the offspring of a woman with diabetes
    Marco Castori
    Medical Genetics, Department of Experimental Medicine, Sapienza University, San Camillo Forlanini Hospital, Rome, Italy
    Am J Med Genet A 152:1803-7. 2010
    ....
  27. doi request reprint Re-writing the natural history of pain and related symptoms in the joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type
    Marco Castori
    Division of Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo Forlanini Hospital, Rome, Italy
    Am J Med Genet A 161:2989-3004. 2013
    ..Symptoms' clustering by disease stage is proposed to investigate both the molecular causes and the symptoms management of JHS/EDS-HT in future studies...
  28. doi request reprint Adult presentation of arterial tortuosity syndrome in a 51-year-old woman with a novel homozygous c.1411+1G>A mutation in the SLC2A10 gene
    Marco Castori
    Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo Forlanini Hospital, Rome, Italy
    Am J Med Genet A 158:1164-9. 2012
    ..Comparison with the few previously published adult patients with ATS contributes to the natural history of this condition, which is probably under diagnosed within the expanding family of inherited connective tissue disorders...
  29. doi request reprint Genetic skin diseases predisposing to basal cell carcinoma
    Marco Castori
    Department of Molecular Medicine, San Camillo Forlanini Hospital, Rome, Italy
    Eur J Dermatol 22:299-309. 2012
    ..Further conditions occasionally associated with BCCs exist, but the significance of the association remains to be proven...
  30. 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...
  31. 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
  32. doi request reprint Elsahy-Waters syndrome: Evidence for autosomal recessive inheritance
    Marco Castori
    Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo Forlanini Hospital, Rome, Italy
    Am J Med Genet A 152:2810-5. 2010
    ..We provide a short review of all previously reported patients with Elsahy-Waters syndrome and related entities...
  33. doi request reprint Juvenile macular dystrophy and forearm pronation-supination restriction presenting with features of distal arthrogryposis type 5
    Marco Castori
    Medical Genetics, Experimental Medicine Department, Sapienza University of Rome, San Camillo Forlanini Hospital, Rome, Italy
    Am J Med Genet A 149:482-6. 2009
    ..Our observations also suggest that fundoscopy and ocular electrophysiological studies might be helpful in the evaluation of patients with otherwise unclassified distal arthrogryposes...
  34. doi request reprint Clinical and genetic heterogeneity in keratosis follicularis spinulosa decalvans
    Marco Castori
    Laboratory of Molecular and Cell Biology, IDI IRCCS, Rome, Italy
    Eur J Med Genet 52:53-8. 2009
    ..Moreover, three sporadic male patients showing additional multisystemic abnormalities might be explained by an X-linked contiguous-gene syndrome...
  35. doi request reprint The nosology of Richieri-Costa/Guion-Almeida syndrome(s)
    Marco Castori
    Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo Forlanini Hospital, Rome, Italy
    Am J Med Genet A 155:398-402. 2011
    ..By comparing the present and previously reported patients with RCGAS1 and 2, we tried to contribute to syndrome delineation and to separate them from conditions with similar facial anomalies...
  36. doi request reprint Bazex-Dupré-Christol syndrome: an ectodermal dysplasia with skin appendage neoplasms
    Marco Castori
    Medical Genetics, Experimental Medicine Department, Sapienza University of Rome, San Camillo Forlanini Hospital, Circonvallazione Gianicolense, 87, I 00152 Rome, Italy
    Eur J Med Genet 52:250-5. 2009
    ..Comparison with other conditions combining features of ectodermal dysplasia and proneness to skin tumors suggests the involvement of a common pathogenic pathway implicated in both skin development and cancer...
  37. ncbi request reprint Syndromic craniosynostosis due to complex chromosome 5 rearrangement and MSX2 gene triplication
    Laura Bernardini
    CSS Hospital, IRCSS, San Giovanni Rotondo and CSS Mendel Institute, Rome, Italy
    Am J Med Genet A 143:2937-43. 2007
    ....
  38. doi request reprint Evaluation of lower limb disability in joint hypermobility syndrome
    Claudia Celletti
    Physical Medicine and Rehabilitation Division, Umberto I Hospital, Sapienza University, Piazzale Aldo Moro 5, 00185 Rome, Italy
    Rheumatol Int 32:2577-81. 2012
    ..These preliminary results may be relevant for the identification of more efficient and tailored treatment programs...
  39. doi request reprint Natural history and manifestations of the hypermobility type Ehlers-Danlos syndrome: a pilot study on 21 patients
    Marco Castori
    Medical Genetics, Department of Experimental Medicine, Sapienza University, San Camillo Forlanini Hospital, Rome, Italy
    Am J Med Genet A 152:556-64. 2010
    ..Their further investigation may contribute to an understanding of the pathogenesis of the protean manifestations of HT-EDS, and a more effective approach to the evaluation and management of affected individuals...
  40. 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...
  41. pmc Evaluation of kinesiophobia and its correlations with pain and fatigue in joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type
    Claudia Celletti
    Physical Medicine and Rehabilitation, Department of Orthopaedics, Sapienza University, Umberto I Hospital, Rome, Italy
    Biomed Res Int 2013:580460. 2013
    ..Anecdotal reports suggest a prominent role for kinesiophobia in disease manifestations, but no study has systematically addressed this point...
  42. ncbi request reprint Reassessment of holoprosencephaly-diencephalic hamartoblastoma (HDH) association
    Marco Castori
    IRCCS C S S San Giovanni Rotondo and C S S Mendel Institute, Rome, Italy
    Am J Med Genet A 143:277-84. 2007
    ..HDH does not emerge as a distinct syndrome, but other hypotheses, including separate conditions within a common pathway and the developmental field defect theory, are discussed...
  43. doi request reprint Darier disease, multiple bone cysts, and aniridia due to double de novo heterozygous mutations in ATP2A2 and PAX6
    Marco Castori
    Experimental Medicine Department, Sapienza University of Rome, San Camillo Forlanini Hospital, Italy
    Am J Med Genet A 149:1768-72. 2009
    ..This finding suggests a role for ATP2A2 in bone biology. More systematic studies are expected in order to estimate the true prevalence of bone cysts in DD and the relationship between skeletal changes and ATP2A2 perturbation...
  44. ncbi request reprint Distinguishing the four genetic causes of Jouberts syndrome-related disorders
    Enza Maria Valente
    IRCCS CSS, Mendel Institute, Rome, Italy
    Ann Neurol 57:513-9. 2005
    ..This provides a useful framework for genetic testing strategies and prediction of which patients are most likely to experience development of systemic complications...
  45. 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...
  46. 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...
  47. ncbi request reprint A triploid fetus further expands etiological heterogeneity in holoprosencephaly-diencephalic hamartoblastoma
    Marco Castori
    Am J Med Genet A 143:1391-3. 2007