Marco Castori

Marco Castori

UNVERIFIED PROFILE

Are you Marco Castori?   Register this Author

Register author
Marco Castori

Marco Castori

Publications by authors named "Marco Castori"

Are you Marco Castori?   Register this Author

100Publications

1892Reads

33Profile Views

Severity classes in adults with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorders: a pilot study of 105 Italian patients.

Rheumatology (Oxford) 2019 Oct;58(10):1722-1730

Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/rheumatology/kez029DOI Listing
October 2019

Application of the 2017 criteria for vascular Ehlers-Danlos syndrome in 50 patients ascertained according to the Villefranche nosology.

Clin Genet 2019 Oct 10. Epub 2019 Oct 10.

Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/cge.13653DOI Listing
October 2019

A novel dominant-negative FGFR1 variant causes Hartsfield syndrome by deregulating RAS/ERK1/2 pathway.

Eur J Hum Genet 2019 Jul 20;27(7):1113-1120. Epub 2019 Feb 20.

Fondazione IRCCS Casa Sollievo della Sofferenza, Division of Medical Genetics, San Giovanni Rotondo, FG, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41431-019-0350-4DOI Listing
July 2019

Characterization of Two Novel Intronic Variants Affecting in -Related Disorders.

Genes (Basel) 2019 06 10;10(6). Epub 2019 Jun 10.

Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo FG, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3390/genes10060442DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6627396PMC
June 2019

Cardiac valvular Ehlers-Danlos syndrome is a well-defined condition due to recessive null variants in COL1A2.

Am J Med Genet A 2019 May 1;179(5):846-851. Epub 2019 Mar 1.

Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo (FG), Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.61100DOI Listing
May 2019

Primary muscle involvement in a 15-year-old girl with the recurrent homozygous c.362dupC variant in FKBP14.

Am J Med Genet A 2019 02 18;179(2):317-321. Epub 2018 Dec 18.

Division of Neuromuscular and Neurodegenerative Disorders, IRCCS-Bambino Gesù Children's Hospital, Rome, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.61006DOI Listing
February 2019

LTBP2-related "Marfan-like" phenotype in two Roma/Gypsy subjects with the LTBP2 homozygous p.R299X variant.

Am J Med Genet A 2019 01 18;179(1):104-112. Epub 2018 Dec 18.

Pediatric Cardiology and Arrhythmology Unit, Department of Pediatric Cardiology and Cardiac Surgery, IRCCS-Bambino Gesù Children Hospital and Research Institute, Rome, Italy.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.10
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.10DOI Listing
January 2019

Attention-deficit/hyperactivity disorder, joint hypermobility-related disorders and pain: expanding body-mind connections to the developmental age.

Atten Defic Hyperact Disord 2018 Sep 14;10(3):163-175. Epub 2018 Feb 14.

Division of Medical Genetics, IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy.

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s12402-018-0252-2
Publisher Site
http://dx.doi.org/10.1007/s12402-018-0252-2DOI Listing
September 2018

Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome.

Eur J Hum Genet 2018 09 11;26(9):1266-1271. Epub 2018 Jun 11.

Division of Nephrology, Department of Internal Medicine, University of Michigan School of Medicine, Ann Arbor, Michigan, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41431-018-0183-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6117343PMC
September 2018

A novel mutation in CDH11, encoding cadherin-11, cause Branchioskeletogenital (Elsahy-Waters) syndrome.

Am J Med Genet A 2018 09 8;176(9):2028-2033. Epub 2018 Sep 8.

Department of Life, Health and Environmental Sciences, University of L'Aquila, L'Aquila, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.40379DOI Listing
September 2018

Clinical Relevance of Joint Hypermobility and Its Impact on Musculoskeletal Pain and Bone Mass.

Curr Osteoporos Rep 2018 08;16(4):333-343

Division of Medical Genetics, IRCCS-Casa Sollievo della Sofferenza, Poliambulatorio "Papa Giovanni Paolo II", 2nd Floor, Viale Padre Pio 7, 71013, San Giovanni Rotondo, Foggia, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s11914-018-0460-xDOI Listing
August 2018

Pharmacological resources, diagnostic approach and coordination of care in joint hypermobility-related disorders.

Expert Rev Clin Pharmacol 2018 Jul 19;11(7):689-703. Epub 2018 Jul 19.

b Division of Medical Genetics , IRCCS-Casa Sollievo della Sofferenza , San Giovanni Rotondo , FG , Italy.

View Article

Download full-text PDF

Source
https://www.tandfonline.com/doi/full/10.1080/17512433.2018.1
Publisher Site
http://dx.doi.org/10.1080/17512433.2018.1497973DOI Listing
July 2018

A novel MAP3K7 splice mutation causes cardiospondylocarpofacial syndrome with features of hereditary connective tissue disorder.

Eur J Hum Genet 2018 04 21;26(4):582-586. Epub 2018 Feb 21.

Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, School of Medicine, Brescia, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41431-017-0079-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5891500PMC
April 2018

Contemporary approach to joint hypermobility and related disorders.

Curr Opin Pediatr 2017 Dec;29(6):640-649

aDivision of Medical Genetics, IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo (Foggia), Italy bHypermobility Unit, The Hospital of St John and St Elizabeth, London, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MOP.0000000000000541DOI Listing
December 2017

Posterior column ataxia with retinitis pigmentosa coexisting with sensory-autonomic neuropathy and leukemia due to the homozygous p.Pro221Ser FLVCR1 mutation.

Am J Med Genet B Neuropsychiatr Genet 2017 Oct 2;174(7):732-739. Epub 2017 Aug 2.

Department of Molecular Biotechnology and Health Sciences, Molecular Biotechnology Center, University of Torino, Torino, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.b.32570DOI Listing
October 2017

A framework for the classification of joint hypermobility and related conditions.

Am J Med Genet C Semin Med Genet 2017 03 1;175(1):148-157. Epub 2017 Feb 1.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.c.31539DOI Listing
March 2017

Ehlers-Danlos syndrome with lethal cardiac valvular dystrophy in males carrying a novel splice mutation in FLNA.

Am J Med Genet A 2017 Jan 14;173(1):169-176. Epub 2016 Oct 14.

Unit of Clinical Genetics, San Camillo-Forlanini Hospital, Rome, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.38004DOI Listing
January 2017

Clinical and molecular characterization of a boy with intellectual disability, facial dysmorphism, minor digital anomalies and a complex IL1RAPL1 intragenic rearrangement.

Eur J Paediatr Neurol 2016 Nov 11;20(6):971-976. Epub 2016 Jul 11.

Laboratory of Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejpn.2016.07.003DOI Listing
November 2016

Early Mandibular Distraction to Relieve Robin Severe Airway Obstruction in Two Siblings with Lymphedema-Distichiasis Syndrome.

J Maxillofac Oral Surg 2016 Sep 18;15(3):384-389. Epub 2015 Mar 18.

Department of Maxillofacial Surgery, Sapienza University of Rome, Rome, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s12663-015-0774-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5048309PMC
September 2016

Ehlers-Danlos syndrome(s) mimicking child abuse: Is there an impact on clinical practice?

Authors:
Marco Castori

Am J Med Genet A 2016 07 5;170(7):1947. Epub 2016 May 5.

Unit of Medical Genetics, San Camillo-Forlanini Hospital, Rome, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37733DOI Listing
July 2016

Small fiber neuropathy is a common feature of Ehlers-Danlos syndromes.

Neurology 2016 07 15;87(2):155-9. Epub 2016 Jun 15.

From 3rd Neurology Unit and Skin Biopsy (D.C., R.L., F.C., E.D.B., G.L.), Peripheral Neuropathy and Neuropathic Pain Laboratory, IRCCS Foundation "Carlo Besta" Neurological Institute, Milan; Unit of Medical Genetics (M.C., P.G.), Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy; Neurology Unit (A.P.), San Camillo-Forlanini Hospital, Rome; and Division of Biology and Genetics (C.D., M.C.), Department of Molecular and Translational Medicine, University of Brescia, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/WNL.0000000000002847DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4940063PMC
July 2016

Discoveries and controversies in cutaneous mosaicism.

G Ital Dermatol Venereol 2016 Jun 12;151(3):251-65. Epub 2016 Apr 12.

Unit of Medical Genetics, San Camillo-Forlanini Hospital, Rome, Italy -

View Article

Download full-text PDF

Source
June 2016

Axial skeletogenesis in human autosomal aneuploidies: A radiographic study of 145 second trimester fetuses.

Am J Med Genet A 2016 Mar 21;170(3):676-87. Epub 2015 Dec 21.

Unit of Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37510DOI Listing
March 2016

Molecular analysis of sarcomeric and non-sarcomeric genes in patients with hypertrophic cardiomyopathy.

Gene 2016 Feb 2;577(2):227-35. Epub 2015 Dec 2.

Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Circonvallazione Gianicolense, 87-00152 Rome, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.gene.2015.11.048DOI Listing
February 2016

Variability in a three-generation family with Pierre Robin sequence, acampomelic campomelic dysplasia, and intellectual disability due to a novel ∼1 Mb deletion upstream of SOX9, and including KCNJ2 and KCNJ16.

Birth Defects Res A Clin Mol Teratol 2016 Jan 11;106(1):61-8. Epub 2015 Dec 11.

Division of Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/bdra.23463DOI Listing
January 2016

Ehlers-Danlos syndrome(s) mimicking child abuse: Is there an impact on clinical practice?

Authors:
Marco Castori

Am J Med Genet C Semin Med Genet 2015 Dec 9;169(4):289-92. Epub 2015 Oct 9.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.c.31460DOI Listing
December 2015

Oropharyngeal teratoma, oral duplication, cervical diplomyelia and anencephaly in a 22-week fetus: A review of the craniofacial teratoma syndrome.

Birth Defects Res A Clin Mol Teratol 2015 Jun 31;103(6):554-66. Epub 2014 Oct 31.

Division of Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/bdra.23327DOI Listing
June 2015

The use of piezosurgery in cranial surgery in children.

J Craniofac Surg 2015 May;26(3):840-2

*Maxillo-Facial Surgery Unit †Neurosurgery Unit ‡Departments of Odontostomatology §Genetics ||Pediatrics and Pediatric Neuropsychiatry ¶Gynecology and Obstetrics, Policlinico Umberto I, "Sapienza" University of Rome #Genetics Unit, S. Camillo-Forlanini Hospital **Department of Radiology and Radiotherapy, Policlinico Umberto I, "Sapienza" University of Rome, Rome, Italy.

View Article

Download full-text PDF

Source
https://insights.ovid.com/crossref?an=00001665-201505000-000
Publisher Site
http://dx.doi.org/10.1097/SCS.0000000000001574DOI Listing
May 2015

Microcephaly, ectodermal dysplasia, multiple skeletal anomalies and distinctive facial appearance: delineation of cerebro-dermato-osseous-dysplasia.

Am J Med Genet A 2015 Apr 23;167A(4):842-51. Epub 2015 Feb 23.

Department of Molecular Medicine, Division of Medical Genetics, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.36983DOI Listing
April 2015

An additional patient with 3q27.3 microdeletion syndrome.

J Child Neurol 2015 Mar 17;30(4):500-4. Epub 2014 Jul 17.

Division of Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1177/0883073814539557DOI Listing
March 2015

Aortic dissection and stroke in a 37-year-old woman: discovering an emerging heritable connective tissue disorder.

Intern Emerg Med 2015 Mar 15;10(2):165-70. Epub 2015 Jan 15.

Emergency Department Stroke Unit, Department of Neurology and Psychiatry, Policlinico Umberto I Hospital, Sapienza University, Viale del Policlinico 155, 00161, Rome, Italy,

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s11739-015-1187-7DOI Listing
March 2015

Connective tissue, Ehlers-Danlos syndrome(s), and head and cervical pain.

Am J Med Genet C Semin Med Genet 2015 Mar 5;169C(1):84-96. Epub 2015 Feb 5.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.c.31426DOI Listing
March 2015

Neurological manifestations of Ehlers-Danlos syndrome(s): A review.

Iran J Neurol 2014 Oct;13(4):190-208

Department of Neurology, Radboud University Medical Centre, Nijmegen, Netherlands.

View Article

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4300794PMC
October 2014

Novel SMAD4 mutation causing Myhre syndrome.

Am J Med Genet A 2014 Jul 8;164A(7):1835-40. Epub 2014 Apr 8.

Dipartimento di Medicina Sperimentale, Sapienza Università di Roma, Rome, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.36544DOI Listing
July 2014

Heart rate, conduction and ultrasound abnormalities in adults with joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type.

Clin Rheumatol 2014 Jul 22;33(7):981-7. Epub 2014 Apr 22.

Division of Physical Medicine and Rehabilitation, Department of Orthopedic Sciences, Umberto I University Hospital, Sapienza University, Piazzale Aldo Moro 5, 00185, Rome, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10067-014-2618-yDOI Listing
July 2014

Unexpected association between joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type and obsessive-compulsive personality disorder.

Rheumatol Int 2014 May 23;34(5):631-6. Epub 2013 Nov 23.

Department of Neurology and Psychiatry, Umberto I Hospital, Sapienza University of Rome, Rome, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00296-013-2901-2DOI Listing
May 2014

Fast and early mandibular osteogenetic distraction in a 24-day-old female newborn with Larsen syndrome.

J Craniofac Surg 2014 May;25(3):e304-7

From the *Dipartimento di Scienze Odontostomatologiche e maxillofacciali, and †Dipartimento di Pediatria, Emergenza Pediatrica e Terapia Intensiva, Università Sapienza di Roma; and ‡Divisione di Genetica Medica, Dipartimento di Medicina Molecolare, Università Sapienza, Ospedale San Camillo-Forlanini l, Roma, Italia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/SCS.0000000000000407DOI Listing
May 2014

Evaluation of kinesiophobia and its correlations with pain and fatigue in joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type.

Biomed Res Int 2013 14;2013:580460. Epub 2013 Jul 14.

Physical Medicine and Rehabilitation, Department of Orthopaedics, Sapienza University, Umberto I Hospital, Rome, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1155/2013/580460DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3725998PMC
March 2014

Towards a re-thinking of the clinical significance of generalized joint hypermobility, joint hypermobiity syndrome, and Ehlers-Danlos syndrome, hypermobility type.

Am J Med Genet A 2014 Mar 6;164A(3):588-90. Epub 2014 Feb 6.

Division of Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.36437DOI Listing
March 2014

Late diagnosis of lateral meningocele syndrome in a 55-year-old woman with symptoms of joint instability and chronic musculoskeletal pain.

Am J Med Genet A 2014 Feb 5;164A(2):528-34. Epub 2013 Dec 5.

Division of Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.36301
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.36301DOI Listing
February 2014

Re-writing the natural history of pain and related symptoms in the joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type.

Am J Med Genet A 2013 Dec 6;161A(12):2989-3004. Epub 2013 Nov 6.

Division of Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.36315DOI Listing
December 2013

Use of the gait profile score for the evaluation of patients with joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type.

Res Dev Disabil 2013 Nov 2;34(11):4280-5. Epub 2013 Oct 2.

Physical Medicine and Rehabilitation Division, Orthopaedic Department, Umberto I Hospital, Sapienza University, Rome, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ridd.2013.09.019DOI Listing
November 2013

Clinical and genetic study of two patients with Zimmermann-Laband syndrome and literature review.

Eur J Med Genet 2013 Oct 27;56(10):570-6. Epub 2013 Aug 27.

Division of Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2013.08.004DOI Listing
October 2013

The "old theme" of variability versus transitory phenotypes in thanatophoric dysplasia type 1: two 19-week-old fetuses with ("San Diego" variant) and without ragged metaphyses due to the same FGFR3 mutation.

Am J Med Genet A 2013 Oct 16;161A(10):2675-7. Epub 2013 Aug 16.

Division of Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.36131DOI Listing
October 2013

Relationship between fatigue and gait abnormality in joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type.

Res Dev Disabil 2012 Nov-Dec;33(6):1914-8. Epub 2012 Jul 21.

Physical Medicine and Rehabilitation Division, Orthopaedic Department, Umberto I Hospital, Sapienza University, Rome, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ridd.2012.06.018DOI Listing
March 2013

Ehlers-danlos syndrome, hypermobility type: an underdiagnosed hereditary connective tissue disorder with mucocutaneous, articular, and systemic manifestations.

Authors:
Marco Castori

ISRN Dermatol 2012 22;2012:751768. Epub 2012 Nov 22.

Division of Medical Genetics, Department of Molecular Medicine, San Camillo-Forlanini Hospital, Sapienza University, Circonvallazione Gianicolense, 87, 00152 Rome, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.5402/2012/751768DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3512326PMC
December 2012

Genetic skin diseases predisposing to basal cell carcinoma.

Eur J Dermatol 2012 May-Jun;22(3):299-309

Department of Molecular Medicine, San Camillo-Forlanini Hospital, Rome, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1684/ejd.2011.1633DOI Listing
September 2012

Ocular features in joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type: a clinical and in vivo confocal microscopy study.

Am J Ophthalmol 2012 Sep 24;154(3):593-600.e1. Epub 2012 May 24.

Department of Ophthalmology, Sapienza University, Umberto I Hospital, Rome, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajo.2012.03.023DOI Listing
September 2012

Gynecologic and obstetric implications of the joint hypermobility syndrome (a.k.a. Ehlers-Danlos syndrome hypermobility type) in 82 Italian patients.

Am J Med Genet A 2012 Sep 27;158A(9):2176-82. Epub 2012 Jul 27.

Division of Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.35506DOI Listing
September 2012

Evaluation of lower limb disability in joint hypermobility syndrome.

Rheumatol Int 2012 Aug 27;32(8):2577-81. Epub 2011 Jul 27.

Physical Medicine and Rehabilitation Division, Umberto I Hospital, Sapienza University, Piazzale Aldo Moro 5, 00185 Rome, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00296-011-2044-2DOI Listing
August 2012

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.

Am J Med Genet A 2012 May 9;158A(5):1164-9. Epub 2012 Apr 9.

Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.35266DOI Listing
May 2012

Symptom and joint mobility progression in the joint hypermobility syndrome (Ehlers-Danlos syndrome, hypermobility type).

Clin Exp Rheumatol 2011 Nov-Dec;29(6):998-1005

Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy.

View Article

Download full-text PDF

Source
March 2012

Whorled hairless nevus of the scalp, linear hyperpigmentation, and telangiectatic nevi of the lower limbs: a novel variant of the "phacomatosis complex".

Am J Med Genet A 2012 Feb 13;158A(2):445-9. Epub 2012 Jan 13.

Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.34403DOI Listing
February 2012

Clinical features predicting identification of CDKN2A mutations in Italian patients with familial cutaneous melanoma.

Cancer Epidemiol 2011 Dec 3;35(6):e116-20. Epub 2011 Sep 3.

Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.canep.2011.07.007DOI Listing
December 2011

Reassessment of oral frenula in Ehlers-Danlos syndrome: a study of 32 patients with the hypermobility type.

Am J Med Genet A 2011 Dec 7;155A(12):3157-9. Epub 2011 Nov 7.

Department of Physical Medicine and Rehabilitation, Sapienza University, Umberto I Hospital, Rome, Italy.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.34330
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.34330DOI Listing
December 2011

Functional characterization of a novel TP63 mutation in a family with overlapping features of Rapp-Hodgkin/AEC/ADULT syndromes.

Am J Med Genet A 2011 Dec 8;155A(12):3104-9. Epub 2011 Nov 8.

IDI-IRCCS Biochemistry Laboratory, c/o Department of Experimental Medicine, University of Tor Vergata, Rome, Italy.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.34335
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.34335DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3306552PMC
December 2011

Gait strategy in patients with Ehlers-Danlos syndrome hypermobility type: a kinematic and kinetic evaluation using 3D gait analysis.

Res Dev Disabil 2011 Sep-Oct;32(5):1663-8. Epub 2011 Mar 21.

Bioeng. Dept. Politecnico di Milano, P.za Leonardo da Vinci 32, 20133 Milano, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ridd.2011.02.018DOI Listing
October 2011

Screening for celiac disease in the joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type.

Am J Med Genet A 2011 Sep 3;155A(9):2314-6. Epub 2011 Aug 3.

Department of Clinical Science, Sapienza University, Umberto I Hospital, Rome, Italy.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.34134
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.34134DOI Listing
September 2011

Monozygotic twin discordance for phacomatosis cesioflammea further supports the post-zygotic mutation hypothesis.

Am J Med Genet A 2011 Sep 3;155A(9):2253-6. Epub 2011 Aug 3.

Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.34140DOI Listing
September 2011

Early ultrasound suspect of thanatophoric dysplasia followed by first trimester molecular diagnosis.

Am J Med Genet A 2011 Jul 10;155A(7):1756-8. Epub 2011 Jun 10.

Department of Obstetrics and Gynecology, Sapienza University, Policlinico Umberto I Hospital, Rome, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.34052DOI Listing
July 2011