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List of works by Marco Castori

A 22-Week-Old Fetus with Nager Syndrome and Congenital Diaphragmatic Hernia due to a Novel SF3B4 Mutation.

scientific article

A framework for the classification of joint hypermobility and related conditions

scientific article published on 01 February 2017

A locus for autosomal dominant keratoconus maps to human chromosome 3p14-q13.

scientific article published in March 2004

A novel heterozygous SOX2 mutation causing anophthalmia/microphthalmia with genital anomalies

scientific article published on 28 February 2009

A novel locus for autosomal dominant cone and cone-rod dystrophies maps to the 6p gene cluster of retinal dystrophies

scientific article published in October 2005

A novel patient with Cooks syndrome supports splitting from "classic" brachydactyly type B.

scientific article

A patient with unilateral tibial aplasia and accessory scrotum: a pure coincidence or nonfortuitous association?

scientific article published on 03 February 2010

A study of migraine characteristics in joint hypermobility syndrome a.k.a. Ehlers–Danlos syndrome, hypermobility type

scientific article published on 20 March 2015

A triploid fetus further expands etiological heterogeneity in holoprosencephaly-diencephalic hamartoblastoma

scientific article published on 01 June 2007

AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders

scientific article

AXIN2 germline mutations are rare in familial melanoma

scientific article published on 03 February 2011

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

article

An Additional Patient With 3q27.3 Microdeletion Syndrome

scientific article published on 17 July 2014

Analysis of the miR-34a locus in 62 patients with familial cutaneous melanoma negative for CDKN2A/CDK4 screening.

scientific article

Antenatal presentation of the oculo-auriculo-vertebral spectrum (OAVS)

scientific article published on 01 July 2006

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

scientific article published on 15 January 2015

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

scientific article published on 03 November 2019

Association of segmental neurofibromatosis 1 and oculo-auriculo-vertebral spectrum in a 24-year-old female

scientific article published on 18 December 2007

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

scientific article published on 21 December 2015

Bazex-Dupré-Christol syndrome: an ectodermal dysplasia with skin appendage neoplasms.

scientific article published on 25 December 2008

COL1-related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers-Danlos syndrome overlap

scientific article published on 12 December 2019

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

scientific article published on 01 March 2019

Central sensitization as the mechanism underlying pain in joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type.

scientific article

Chronic fatigue syndrome is commonly diagnosed in patients with Ehlers-Danlos syndrome hypermobility type/joint hypermobility syndrome.

scientific article published in May 2011

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

scientific article published on 27 August 2013

Clinical and molecular characterization of two patients with palmoplantar keratoderma-congenital alopecia syndrome type 2

scientific article published on 24 June 2016

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

scientific article

Complete maternal isodisomy causing reduction to homozygosity for a novel LAMB3 mutation in Herlitz junctional epidermolysis bullosa

scientific article published on 01 April 2008

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

scientific article published on 05 February 2015

Consensus based recommendations for diagnosis and medical management of Poland syndrome (sequence)

scientific article published on 05 August 2020

Darier disease, multiple bone cysts, and aniridia due to double de novo heterozygous mutations in ATP2A2 and PAX6.

scientific article published in August 2009

De Barsy Syndrome: A genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction

scientific article published on 12 March 2012

Delayed diagnosis of dyskeratosis congenita in a 40-year-old woman with multiple head and neck squamous cell carcinomas

scientific article published on 01 February 2007

Diabetic Embryopathy: A Developmental Perspective from Fertilization to Adulthood ⬇️

scientific article published on February 1, 2013

Discoveries and controversies in cutaneous mosaicism

scientific article published on 12 April 2016

Distinguishing the four genetic causes of Jouberts syndrome-related disorders

scientific article published in April 2005

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

scientific article

Ehlers-Danlos Syndrome, Hypermobility Type: An Underdiagnosed Hereditary Connective Tissue Disorder with Mucocutaneous, Articular, and Systemic Manifestations ⬇️

scientific article published on November 22, 2012

Ehlers-Danlos syndrome hypermobility type and the excess of affected females: Possible mechanisms and perspectives

scientific article published on 01 September 2010

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

scientific article published on 05 May 2016

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

scientific article published on 09 October 2015

Ehlers–Danlos syndrome hypermobility type: a possible unifying concept for various functional somatic syndromes ⬇️

scientific article published on December 23, 2011

Elsahy-Waters syndrome: Evidence for autosomal recessive inheritance

article

Entrapment neuropathies and polyneuropathies in joint hypermobility syndrome/Ehlers–Danlos syndrome

scientific article published on 04 June 2013

Evaluation of balance and improvement of proprioception by repetitive muscle vibration in a 15-year-old girl with joint hypermobility syndrome

article

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

scientific article published on 14 July 2013

Evaluation of lower limb disability in joint hypermobility syndrome

scientific article published on 27 July 2011

Exploring relationships between joint hypermobility and neurodevelopment in children (4-13 years) with hereditary connective tissue disorders and developmental coordination disorder

scientific article published on 02 August 2018

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

scientific article published in May 2014

Fontaine-Farriaux syndrome: a recognizable craniosynostosis syndrome with nail, skeletal, abdominal, and central nervous system anomalies

scientific article published in October 2009

Foot type analysis based on electronic pedobarography data in individuals with joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type during upright standing

scientific article

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

scientific article published on 8 November 2011

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

article

Gastrointestinal and nutritional issues in joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type.

scientific article published on March 2015

Generalized joint hypermobility, joint hypermobility syndrome and Ehlers-Danlos syndrome, hypermobility type.

scientific article

Genetic skin diseases predisposing to basal cell carcinoma.

scientific article published on May 2012

Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa

scientific article published on 24 August 2013

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

article

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

scientific article

Herlitz junctional epidermolysis bullosa: laminin-5 mutational profile and carrier frequency in the Italian population

article

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

scientific article

Holoprosencephaly-diencephalic hamartoma: Sequence or pleiotropy?

scientific article published on 01 January 2010

Hypermobile Ehlers-Danlos syndrome (a.k.a. Ehlers-Danlos syndrome Type III and Ehlers-Danlos syndrome hypermobility type): Clinical description and natural history

scientific article published on February 2017

Hypochondrogenesis

scientific article published on 24 January 2006

Italian validation of the functional difficulties questionnaire (FDQ-9) and its correlation with major determinants of quality of life in adults with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorder

scientific article published on 23 November 2018

Jejunal atresia and anterior chamber anomalies: Further delineation of the Strømme syndrome.

scientific article published on 26 February 2010

Joint hypermobility syndrome (a.k.a. Ehlers-Danlos Syndrome, Hypermobility Type): an updated critique

scientific article published on February 1, 2013

Juvenile macular dystrophy and forearm pronation-supination restriction presenting with features of distal arthrogryposis type 5

scientific article published on 01 March 2009

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

scientific article published on 18 December 2018

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

scientific article

Lethal autosomal recessive epidermolytic ichthyosis due to a novel donor splice-site mutation in KRT10

scientific article published on 10 March 2010

Majewski osteodysplastic primordial dwarfism type II (MOPD II) complicated by stroke: Clinical report and review of cerebral vascular anomalies

article

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.

scientific article

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

scientific article published on 23 February 2015

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

article

Molecular characterization of 11 Italian patients with Darier disease

scientific article published on 01 May 2011

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

scientific article published on 03 August 2011

Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome

scientific article (publication date: June 2006)

NPHP1 gene deletion is a rare cause of Joubert syndrome related disorders.

scientific article published in February 2005

Natural history and manifestations of the hypermobility type Ehlers-Danlos syndrome: A pilot study on 21 patients

scientific article published on 01 March 2010

Natural history of TFR2-related hereditary hemochromatosis in a 47-yr-old Italian patient

article

Neurodevelopmental attributes of joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type: Update and perspectives.

scientific article published on 05 February 2015

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

scientific article

Neuropathic Pain Is a Common Feature in Ehlers-Danlos Syndrome

scientific article published on 08 December 2010

Nosology and inheritance pattern(s) of joint hypermobility syndrome and Ehlers-Danlos syndrome, hypermobility type: A study of intrafamilial and interfamilial variability in 23 Italian pedigrees

article

Novel SMAD4 mutation causing Myhre syndrome

scientific article (publication date: July 2014)

Novel and recurrent germline LEMD3 mutations causing Buschke-Ollendorff syndrome and osteopoikilosis but not isolated melorheostosis

scientific article

Novel mutations affecting LRP5 splicing in patients with osteoporosis-pseudoglioma syndrome (OPPG).

scientific article

Novel mutations of the PRKAR1A gene in patients with acrodysostosis

scientific article published on 21 February 2013

NovelCTSCmutations in a patient with Papillon-Lefèvre syndrome with recurrent pyoderma and minimal oral and palmoplantar involvement

scientific article published on 20 October 2008

Ocular Features in Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome Hypermobility Type: A Clinical and In Vivo Confocal Microscopy Study

scientific article published on 24 May 2012

PRKAR1A and PDE4D mutations cause acrodysostosis but two distinct syndromes with or without GPCR-signaling hormone resistance

scientific article published on 5 October 2012

Pachydermodactyly with mild features of heritable connective tissue disorder and no sign of emotional distress

scientific article published on 01 August 2011

Palmoplantar keratoderma in keratosis follicularis spinulosa decalvans

scientific article published on 20 October 2010

Palmoplantar keratoderma, pseudo-ainhum, and universal atrichia: A new patient and review of the palmoplantar keratoderma-congenital alopecia syndrome

article

Paradoxical association of extensive nevus flammeus together with unilateral lower limb and breast hypoplasia

scientific article published on 01 February 2009

Phacomatosis cesioflammea with unilateral lipohypoplasia

scientific article published on 01 February 2008

Phenotypic variability in developmental coordination disorder: Clustering of generalized joint hypermobility with attention deficit/hyperactivity disorder, atypical swallowing and narrative difficulties

scientific article

Prediction and visualization data for the interpretation of sarcomeric and non-sarcomeric DNA variants found in patients with hypertrophic cardiomyopathy.

scientific article

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

scientific article

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

scientific article published on 18 December 2018

Psychopathological manifestations of joint hypermobility and joint hypermobility syndrome/ Ehlers-Danlos syndrome, hypermobility type: The link between connective tissue and psychological distress revised.

scientific article published on March 2015

Quality of life in the classic and hypermobility types of Ehlers-Danlos syndrome [corrected].

scientific article

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

scientific article

Reassessment of holoprosencephaly-diencephalic hamartoblastoma (HDH) association

scientific article published in February 2007

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

scientific article published on 07 November 2011

Recommendations for anesthesia and perioperative management in patients with Ehlers-Danlos syndrome(s)

scientific article

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

scientific article

Response to: Concern regarding classification of c.703G>A/p.Gly235Arg as a novel missense variant in KRIT1 gene

scientific article published on 01 May 2020

Reticulate vascular lesions and a large head

scientific article published in September 2007

Review of clinical and molecular variability in autosomal recessive cutis laxa 2A

scientific article published on 27 December 2020

Role of the dopamine D5 receptor (DRD5) as a susceptibility gene for cervical dystonia

scientific article

Schöpf-Schulz-Passarge syndrome: further delineation of the phenotype and genetic considerations.

scientific article published on January 2008

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

article

Sirenomelia and VACTERL association in the offspring of a woman with diabetes

scientific article published on 01 July 2010

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

scientific article published on 15 June 2016

Spectrum of mucocutaneous manifestations in 277 patients with joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type

scientific article published on 5 February 2015

Surgical Recommendations in Ehlers-Danlos Syndrome(s) Need Patient Classification: The Example of Ehlers-Danlos Syndrome Hypermobility Type (a.k.a. Joint Hypermobility Syndrome) ⬇️

scientific article published on January 1, 2012

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

article

Syndromic craniosynostosis due to complex chromosome 5 rearrangement and MSX2 gene triplication.

scientific article published in December 2007

Systematized organoid epidermal nevus with eccrine differentiation, multiple facial and oral congenital scars, gingival synechiae, and blepharophimosis: A novel epidermal nevus syndrome

scientific article published on 01 January 2010

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.

scientific article

The 2017 international classification of the Ehlers-Danlos syndromes

scientific article published on March 2017

The nosology of Richieri-Costa/Guion-Almeida syndrome(s)

scientific article published on 22 December 2010

The use of piezosurgery in cranial surgery in children.

scientific article published in May 2015

Tibial developmental field defect is the most common lower limb malformation pattern in VACTERL association

scientific article published in May 2008

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

scientific article published on 06 February 2014

Trisomic rescue causing reduction to homozygosity for a novel ABCA12 mutation in harlequin ichthyosis

scientific article published on 3 August 2009

Two families confirm Schöpf-Schulz-Passarge syndrome as a discrete entity within the WNT10A phenotypic spectrum

scientific article published in January 2011

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

scientific article published on 23 November 2013

Use of the Gait Profile Score for the evaluation of patients with joint hypermobility syndrome/Ehlers–Danlos syndrome hypermobility type

scientific article published on 02 October 2013

Whorled hairless nevus of the scalp, linear hyperpigmentation, and telangiectatic nevi of the lower limbs: A novel variant of the “phacomatosis complex”

scientific article published on 13 January 2012

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