Research Topics
Species | Marco CastoriSummaryAffiliation: Istituto Dermopatico dell'Immacolata Country: Italy Publications
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Detail Information
Publications
Pai syndrome: first patient with agenesis of the corpus callosum and literature reviewMarco 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...
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...- Association of segmental neurofibromatosis 1 and oculo-auriculo-vertebral spectrum in a 24-year-old femaleMarco 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)... - Phacomatosis cesioflammea with unilateral lipohypoplasiaMarco 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... - Tibial developmental field defect is the most common lower limb malformation pattern in VACTERL associationMarco 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... - Schöpf-Schulz-Passarge syndrome: further delineation of the phenotype and genetic considerationsMarco 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... - Analysis of the miR-34a locus in 62 patients with familial cutaneous melanoma negative for CDKN2A/CDK4 screeningAngela 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... - A rare cause of syndromic hypotrichosis: Nicolaides-Baraitser syndromeMarco 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... - Management of pain and fatigue in the joint hypermobility syndrome (a.k.a. Ehlers-Danlos syndrome, hypermobility type): principles and proposal for a multidisciplinary approachMarco 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... - Gynecologic and obstetric implications of the joint hypermobility syndrome (a.k.a. Ehlers-Danlos syndrome hypermobility type) in 82 Italian patientsMarco 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... - 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... - Clinical features predicting identification of CDKN2A mutations in Italian patients with familial cutaneous melanomaLucia 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... - Fontaine-Farriaux syndrome: a recognizable craniosynostosis syndrome with nail, skeletal, abdominal, and central nervous system anomaliesMarco 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... - Monozygotic twin discordance for phacomatosis cesioflammea further supports the post-zygotic mutation hypothesisMarco 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... - Jejunal atresia and anterior chamber anomalies: Further delineation of the Strømme syndromeMarco 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... - Systematized organoid epidermal nevus with eccrine differentiation, multiple facial and oral congenital scars, gingival synechiae, and blepharophimosis: a novel epidermal nevus syndromeMarco 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.... - Molecular characterization of 11 Italian patients with Darier diseaseLucia 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... - Palmoplantar keratoderma, pseudo-ainhum, and universal atrichia: A new patient and review of the palmoplantar keratoderma-congenital alopecia syndromeMarco 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... - Relationship between fatigue and gait abnormality in joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility typeClaudia Celletti
Physical Medicine and Rehabilitation Division, Orthopaedic Department, Umberto I Hospital, Sapienza University, Rome, Italy
Res Dev Disabil 33:1914-8. 2012.... - Ocular features in joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type: a clinical and in vivo confocal microscopy studyMagda 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)... - 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.... 
Functional characterization of a novel TP63 mutation in a family with overlapping features of Rapp-Hodgkin/AEC/ADULT syndromesValeria 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...- Sirenomelia and VACTERL association in the offspring of a woman with diabetesMarco Castori
Medical Genetics, Department of Experimental Medicine, Sapienza University, San Camillo Forlanini Hospital, Rome, Italy
Am J Med Genet A 152:1803-7. 2010.... - Adult presentation of arterial tortuosity syndrome in a 51-year-old woman with a novel homozygous c.1411+1G>A mutation in the SLC2A10 geneMarco 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... - Genetic skin diseases predisposing to basal cell carcinomaMarco 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... - A novel patient with Cooks syndrome supports splitting from "classic" brachydactyly type BMarco 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... - Juvenile macular dystrophy and forearm pronation-supination restriction presenting with features of distal arthrogryposis type 5Marco 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... - Reticulate vascular lesions and a large headMarco Castori
IRCCS-C.S.S. San Giovanni Rotondo and C.S.S.-Mendel Institute, Rome, Italy
Pediatr Dermatol 24:555-6. 2007 - 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... - Elsahy-Waters syndrome: Evidence for autosomal recessive inheritanceMarco 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... - Syndromic craniosynostosis due to complex chromosome 5 rearrangement and MSX2 gene triplicationLaura Bernardini
CSS Hospital, IRCSS, San Giovanni Rotondo and CSS Mendel Institute, Rome, Italy
Am J Med Genet A 143:2937-43. 2007.... - Bazex-Dupré-Christol syndrome: an ectodermal dysplasia with skin appendage neoplasmsMarco 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... - Clinical and genetic heterogeneity in keratosis follicularis spinulosa decalvansMarco 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... - Evaluation of lower limb disability in joint hypermobility syndromeClaudia 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... - Natural history and manifestations of the hypermobility type Ehlers-Danlos syndrome: a pilot study on 21 patientsMarco 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... - 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... - Reassessment of holoprosencephaly-diencephalic hamartoblastoma (HDH) associationMarco 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... - Darier disease, multiple bone cysts, and aniridia due to double de novo heterozygous mutations in ATP2A2 and PAX6Marco 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... - Distinguishing the four genetic causes of Jouberts syndrome-related disordersEnza 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... - Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndromeEnza 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... - Majewski osteodysplastic primordial dwarfism type II (MOPD II) complicated by stroke: clinical report and review of cerebral vascular anomaliesFrancesco 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... - A triploid fetus further expands etiological heterogeneity in holoprosencephaly-diencephalic hamartoblastomaMarco Castori
Am J Med Genet A 143:1391-3. 2007