M. Castori

发表

Customised next-generation sequencing multigene panel to screen a large cohort of individuals with chromatin-related disorder

T. Mazza, S. Castellana, G. Merla, 2020, Journal of Medical Genetics.

TAB2 c.1398dup variant leads to haploinsufficiency and impairs extracellular matrix homeostasis

G. Mazzoccoli, L. Micale, C. Fusco, 2019, Human mutation.

Hereditary palmoplantar keratodermas. Part I. Non‐syndromic palmoplantar keratodermas: classification, clinical and genetic features

M. Castori, G. Zambruno, L. Guerra, 2018, Journal of the European Academy of Dermatology and Venereology : JEADV.

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

L. Micale, C. Fusco, M. Castori, 2020, Human mutation.

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

Giorgia Mari, M. Castori, M. Celli, 2015, American journal of medical genetics. Part C, Seminars in medical genetics.

Mutations in the Heme Exporter FLVCR1 Cause Sensory Neurodegeneration with Loss of Pain Perception

L. Silengo, F. Altruda, E. Tolosano, 2016, PLoS genetics.

VACTERL association and maternal diabetes: a possible causal relationship?

M. Castori, P. Grammatico, R. Rinaldi, 2008, Birth defects research. Part A, Clinical and molecular teratology.

Functional Characterization of a Novel TP63 Mutation in a Family With Overlapping Features of Rapp-Hodgkin/AEC/ADULT Syndromes

G. Melino, A. Terrinoni, M. Castori, 2011, American journal of medical genetics. Part A.

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

M. Copetti, S. Castellana, L. Micale, 2020, American journal of medical genetics. Part A.

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

P. Wicart, J. Argente, P. Bougnères, 2012, The Journal of clinical endocrinology and metabolism.

Quality of life in the classic and hypermobility types of Elhers‐Danlos syndrome

L. Padua, M. Castori, P. Grammatico, 2010, Annals of neurology.

A single‐center study on 140 patients with cerebral cavernous malformations: 28 new pathogenic variants and functional characterization of a PDCD10 large deletion

M. Scerrati, T. Mazza, S. Castellana, 2018, Human mutation.

The recurrent SETBP1 c.2608G > A, p.(Gly870Ser) variant in a patient with Schinzel-Giedion syndrome: an illustrative case of the utility of whole exome sequencing in a critically ill neonate

T. Mazza, S. Castellana, M. Carella, 2020, Italian Journal of Pediatrics.

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

M. Castori, P. Grammatico, G. Zambruno, 2008, EJD. European journal of dermatology.

Clinical and Molecular Diagnosis of Osteocraniostenosis in Fetuses and Newborns: Prenatal Ultrasound, Clinical, Radiological and Pathological Features

L. Garavelli, P. Nikkels, M. Castori, 2022, Genes.

The Use of Piezosurgery in Cranial Surgery in Children

A. Pizzuti, V. Ramieri, M. Castori, 2015, The Journal of craniofacial surgery.

Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome

C. Marinelli, M. Castori, P. Maltese, 2021, Investigative ophthalmology & visual science.

Propranolol for familial cerebral cavernous malformation (Treat_CCM): study protocol for a randomized controlled pilot trial

V. Torri, S. Marino, R. Pallini, 2020, Trials.

A rare cause of syndromic hypotrichosis: Nicolaides-Baraitser syndrome.

M. Castori, P. Grammatico, M. Paradisi, 2008, Journal of the American Academy of Dermatology.

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

F. Passarelli, M. Castori, M. Paradisi, 2009, European journal of medical genetics.

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

R. Grahame, H. Cohen, M. Castori, 2017, American journal of medical genetics. Part C, Seminars in medical genetics.

Recognizing and treating Ehlers-Danlos syndrome(s): the need for a multidisciplinary approach

M. Castori, S. Morlino, Caterina Piedimonte, 2016 .

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

M. Castori, 2013, Giornale italiano di dermatologia e venereologia : organo ufficiale, Societa italiana di dermatologia e sifilografia.

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

B. P. Wordsworth, M. Castori, M. Paradisi, 2009, Clinical genetics.

Genetic testing for Marfan syndrome

T. Beccari, C. Marinelli, M. Castori, 2018, The EuroBiotech Journal.

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

F. Brancati, M. Castori, S. Morlino, 2014, American journal of medical genetics. Part A.

Genetic testing for Marfan-like disorders

T. Beccari, C. Marinelli, M. Castori, 2018, The EuroBiotech Journal.

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

L. Bernardini, I. Bottillo, F. Cardona, 2016, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Genetic analysis of genes associated with epilepsy

A. Petracca, M. Castori, M. Bertelli, 2020, Acta bio-medica : Atenei Parmensis.

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

D. Pareyson, E. Tolosano, I. Kurth, 2017, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

An Additional Patient With 3q27.3 Microdeletion Syndrome

I. Bottillo, M. Castori, S. Morlino, 2015, Journal of child neurology.

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

F. Torricelli, M. Castori, P. Grammatico, 2009, American journal of medical genetics. Part A.

Transcriptome Analysis Reveals Altered Expression of Genes Involved in Hypoxia, Inflammation and Immune Regulation in Pdcd10-Depleted Mouse Endothelial Cells

D. Cacchiarelli, E. Dejana, L. Micale, 2022, Genes.

A novel patient with Cooks syndrome supports splitting from “classic” brachydactyly type B

S. Mundlos, F. Brancati, B. Dallapiccola, 2007, American journal of medical genetics. Part A.

A first update on mapping the human genetic architecture of COVID-19

Eurie L. Hong, E. F. Perez, Rachel G Liao, 2022, Nature.

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

O. Mäkitie, W. Cole, T. Prescott, 2011, European Journal of Human Genetics.

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

B. Dallapiccola, P. Simi, L. Bernardini, 2007, American journal of medical genetics. Part A.

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

M. Castori, P. Grammatico, L. Laino, 2009, American journal of medical genetics. Part A.

Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1

Mark R. Marten, Erinna F. Lee, Dana L. Miller, 2021, Autophagy.

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

F. Brancati, B. Dallapiccola, R. Mingarelli, 2005, American journal of medical genetics. Part A.

W. Reardon, T. Mazza, L. Micale, 2019, Clinical genetics.

The 2017 international classification of the Ehlers–Danlos syndromes

J. Belmont, P. Byers, R. Grahame, 2017, American journal of medical genetics. Part C, Seminars in medical genetics.

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

M. Castori, 2016, American journal of medical genetics. Part A.

Mutational spectrum and clinical signatures in 114 families with hereditary multiple osteochondromas: insights into molecular properties of selected exostosin variants.

M. Copetti, F. Brancati, L. Micale, 2019, Human molecular genetics.

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

G. Annessi, P. Cascone, M. Castori, 2010, American journal of medical genetics. Part A.

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

F. Brancati, B. Dallapiccola, R. Mingarelli, 2006, American journal of medical genetics. Part A.

Pachydermoperiostosis: an update

B. Dallapiccola, R. Mingarelli, L. Sinibaldi, 2005, Clinical genetics.

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

M. Castori, S. Morlino, P. Grammatico, 2013, American journal of medical genetics. Part A.

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

G. Lauria, M. Castori, P. Grammatico, 2016, Neurology.

Gastrointestinal and nutritional issues in joint hypermobility syndrome/ehlers–danlos syndrome, hypermobility type

M. Castori, S. Morlino, P. Grammatico, 2015, American journal of medical genetics. Part C, Seminars in medical genetics.

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

Giacomo De Paoli Barbato, S. Bianca, M. Valle, 2020, Orphanet Journal of Rare Diseases.

Improving clinical interpretation of five KRIT1 and PDCD10 intronic variants

L. Micale, C. Fusco, S. Gambardella, 2021, Clinical genetics.

A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations

L. Bernardini, A. Novelli, E. Giacopuzzi, 2018, Clinical genetics.

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

M. Venturini, M. Castori, S. Morlino, 2018, European Journal of Human Genetics.

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

J. Fischer, M. Castori, G. Zambruno, 2009, Clinical genetics.

Use of low-molecular weight heparin, transfusion and mortality in COVID-19 patients not requiring ventilation

G. Tiscia, M. Margaglione, M. Copetti, 2021, Journal of Thrombosis and Thrombolysis.

Ehlers-Danlos syndromes: state of the art on clinical practice guidelines

Matthias Schneider, S. Bombardieri, M. Cutolo, 2018, RMD Open.

Novel Pathogenic Variants of the AIRE Gene in Two Autoimmune Polyendocrine Syndrome Type I Cases with Atypical Presentation: Role of the NGS in Diagnostic Pathway and Review of the Literature

T. Mazza, S. Castellana, M. Castori, 2020, Biomedicines.

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

M. Castori, P. Grammatico, S. Majore, 2009, European journal of haematology.

Distinguishing the four genetic causes of jouberts syndrome–related disorders

E. Bertini, M. Koenig, H. Kayserili, 2005, Annals of neurology.

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

E. Moscarella, M. Castori, P. Grammatico, 2011, Cancer epidemiology.

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

M. Castori, S. Morlino, P. Grammatico, 2013, American journal of medical genetics. Part A.

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

F. Brancati, G. Novelli, U. Kornak, 2012, American journal of medical genetics. Part A.

Insights into the molecular pathogenesis of cardiospondylocarpofacial syndrome: MAP3K7 c.737-7A > G variant alters the TGFβ-mediated α-SMA cytoskeleton assembly and autophagy.

T. Mazza, G. Mazzoccoli, L. Micale, 2020, Biochimica et biophysica acta. Molecular basis of disease.

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

M. Castori, P. Grammatico, E. Silvestri, 2010, American journal of medical genetics. Part A.

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

E. Bertini, F. Brancati, E. Valente, 2006, Annals of neurology.

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

M. Castori, G. Zambruno, P. Ghirri, 2010, The British journal of dermatology.

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

M. Castori, S. Morlino, P. Grammatico, 2015, Birth defects research. Part A, Clinical and molecular teratology.

Exon-Trapping Assay Improves Clinical Interpretation of COL11A1 and COL11A2 Intronic Variants in Stickler Syndrome Type 2 and Otospondylomegaepiphyseal Dysplasia

S. Castellana, L. Micale, C. Fusco, 2020, Genes.

The splice c.1815G>A variant in KIAA0586 results in a phenotype bridging short-rib-polydactyly and oral-facial-digital syndrome

M. Digilio, B. Dallapiccola, E. Agolini, 2020, Medicine.

Novel CTSC mutations in a patient with Papillon–Lefèvre syndrome with recurrent pyoderma and minimal oral and palmoplantar involvement

S. Madonna, M. Castori, D. Castiglia, 2009, The British journal of dermatology.

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

M. Castori, H. Wulf, F. Malfait, 2014, Orphanet Journal of Rare Diseases.

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

M. Venturini, M. Castori, M. Ritelli, 2020, Clinical genetics.

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

M. Copetti, A. Fontana, M. Castori, 2019, Rheumatology.

Spectrum of mucocutaneous, ocular and facial features and delineation of novel presentations in 62 classical Ehlers‐Danlos syndrome patients

M. Venturini, P. Calzavara-Pinton, M. Castori, 2017, Clinical genetics.

Nutritional Supplementation in Ehlers-Danlos Syndrome

M. Castori, Michela Bruschini, C. Blundo, 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)

M. Castori, 2013, Digestive Surgery.

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

M. Castori, F. Camerota, C. Celletti, 2013, Rheumatology International.

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

A. Pizzuti, M. Castori, P. Grammatico, 2013, European journal of medical genetics.

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

I. Bottillo, M. Castori, P. Grammatico, 2013, BMC Research Notes.

Gonosomal Mosaicism for a Novel COL5A1 Pathogenic Variant in Classic Ehlers-Danlos Syndrome

L. Micale, C. Fusco, T. Foiadelli, 2021, Genes.

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

M. Castori, S. Morlino, P. Grammatico, 2012, American journal of medical genetics. Part A.

Generation of the induced pluripotent stem cell line UNIBSi017-A from an individual with cardiospondylocarpofacial syndrome and the MAP3K7 c.737-7A > G variant.

L. Micale, P. Dell’Era, M. Castori, 2022, Stem cell research.

Novel and recurrent p14ARF mutations in Italian familial melanoma

M. Castori, P. Grammatico, C. Catricalà, 2010, Clinical genetics.

Safety and efficacy of propranolol for treatment of familial cerebral cavernous malformations (Treat_CCM): a randomised, open-label, blinded-endpoint, phase 2 pilot trial

N. Bresolin, V. Torri, R. Pallini, 2022, The Lancet Neurology.

Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome

D. Taruscio, F. Brancati, A. Ferlini, 2018, European Journal of Human Genetics.

A Private 16q24.2q24.3 Microduplication in a Boy with Intellectual Disability, Speech Delay and Mild Dysmorphic Features

M. Carella, A. Petracca, M. Castori, 2020, Genes.

Facial comedonal acne in orofaciodigital syndrome type 1 caused by a novel frameshift variant in OFD1

E. Agolini, A. Novelli, M. Castori, 2018, Clinical and experimental dermatology.

Integrated exome and transcriptome analysis prioritizes MAP4K4 de novo frameshift variants in autism spectrum disorder as a novel disease–gene association

D. Cacchiarelli, M. Cesana, L. Micale, 2022, Human Genetics.

Ehlers-Danlos Syndromes, Joint Hypermobility and Hypermobility Spectrum Disorders.

L. Micale, C. Fusco, M. Castori, 2021, Advances in experimental medicine and biology.

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

F. Zaccagna, M. Castori, M. Ritelli, 2012, American journal of medical genetics. Part A.

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

B. Dallapiccola, M. Castori, G. Zambruno, 2007, The British journal of dermatology.

A proposal of rehabilitative approach in the rare disease "De Barsy Syndrome": case report.

T. Paolucci, M. Castori, F. Camerota, 2021, La Clinica terapeutica.

Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann–Steiner and Rubinstein–Taybi syndromes

T. Mazza, S. Castellana, G. Merla, 2020, European Journal of Human Genetics.

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

R. Baron, G. Cruccu, M. Di Franco, 2016, European journal of pain.

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

M. Castori, P. Grammatico, S. Majore, 2009, American journal of medical genetics. Part A.

Clinical and genetic heterogeneity in keratosis follicularis spinulosa decalvans.

M. Castori, G. Zambruno, M. Paradisi, 2009, European journal of medical genetics.

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

M. Castori, P. Grammatico, F. Pezzella, 2011, American journal of medical genetics. Part A.

The Ehlers–Danlos syndromes

P. Byers, M. Castori, C. Francomano, 2020, Nature Reviews Disease Primers.

Genetic skin diseases predisposing to basal cell carcinoma.

Jean Kanitakis, M. Castori, P. Grammatico, 2012, European journal of dermatology : EJD.

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

J. Féher, F. Brancati, E. Valente, 2004, Journal of Medical Genetics.

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

M. Castori, Nicol C. Voermans, 2014, Iranian journal of neurology.

Neurological manifestations of Ehlers-Danlos syndrome(s)

N. Voermans, M. Castori, 2014 .

Reticulate Vascular Lesions and a Large Head

F. Brancati, B. Dallapiccola, R. Mingarelli, 2007, Pediatric dermatology.

Hereditary palmoplantar keratodermas. Part II: syndromic palmoplantar keratodermas – Diagnostic algorithm and principles of therapy

M. Castori, G. Zambruno, L. Guerra, 2018, Journal of the European Academy of Dermatology and Venereology : JEADV.

Prenatal genetic diagnosis: fetal therapy as a possible solution to a positive test

R. Angioli, E. Fulcheri, O. Pös, 2020, Acta bio-medica : Atenei Parmensis.

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

G. Ursini, L. Sinibaldi, M. Castori, 2015, American journal of medical genetics. Part C, Seminars in medical genetics.

Diabetic Embryopathy: A Developmental Perspective from Fertilization to Adulthood

M. Castori, 2012, Molecular Syndromology.

Whole Exome Sequencing Reveals a Novel AUTS2 In-Frame Deletion in a Boy with Global Developmental Delay, Absent Speech, Dysmorphic Features, and Cerebral Anomalies

T. Mazza, S. Castellana, M. Carella, 2021, Genes.

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

Yves Moreau, Gabriele Gillessen-Kaesbach, Dagmar Wieczorek, 2012, Nature Genetics.

A Patient with Unilateral Tibial Aplasia and Accessory Scrotum: A Pure Coincidence or Nonfortuitous Association?

Z. Gucev, V. Tasic, M. Castori, 2010, Case reports in medicine.

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

M. Castori, P. Grammatico, R. Rinaldi, 2008, American journal of medical genetics. Part A.

Molecular characterization of 11 Italian patients with Darier disease.

F. Benedicenti, M. Castori, P. Grammatico, 2011, EJD. European journal of dermatology.

Mapping the human genetic architecture of COVID-19

Mattia G. Bergomi, Christopher M. DeBoever, Matthew A. Wiles, 2021, Nature.

AXIN2 germline mutations are rare in familial melanoma

M. Castori, P. Grammatico, G. Zambruno, 2011, Genes, chromosomes & cancer.

Craniosynostosis is a feature of CHD7‐related CHARGE syndrome

F. Brancati, L. Salviati, M. Castori, 2021, American journal of medical genetics. Part A.

Novel mutations of the PRKAR1A gene in patients with acrodysostosis

D. Horn, S. Uhrig, E. Klopocki, 2013, Clinical genetics.

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

S. Mundlos, H. Kayserili, D. Chitayat, 2013, Molecular genetics and metabolism.

A novel complex genomic rearrangement affecting the KCNJ2 regulatory region causes a variant of Cooks syndrome

M. Nicodemi, S. Bianco, A. Chiariello, 2021, Human Genetics.

Fast and Early Mandibular Osteogenetic Distraction in a 24-Day-Old Female Newborn With Larsen Syndrome

V. Ramieri, P. Cascone, E. Basile, 2014, The Journal of craniofacial surgery.

Novel TONSL variants cause SPONASTRIME dysplasia and associate with spontaneous chromosome breaks, defective cell proliferation and apoptosis.

D. Taruscio, S. Cialfi, S. Castellana, 2020, Human molecular genetics.

Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome

N. Brunetti‐Pierri, T. Mazza, M. Digilio, 2023, European Journal of Human Genetics.

Transcriptome-Wide Expression Profiling in Skin Fibroblasts of Patients with Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome Hypermobility Type

M. Venturini, M. Castori, M. Ritelli, 2016, PloS one.

Head and neck: Posterior uveal melanoma

M. Castori, P. Grammatico, 2007 .

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

M. Castori, P. Grammatico, B. Grammatico, 2009, European journal of medical genetics.

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

M. Castori, 2015, American journal of medical genetics. Part C, Seminars in medical genetics.

High rate of dyspareunia and probable vulvodynia in Ehlers–Danlos syndromes and hypermobility spectrum disorders: An online survey

Alana D. Steffen, M. Castori, B. McFarlin, 2021, American journal of medical genetics. Part C, Seminars in medical genetics.

Contemporary approach to joint hypermobility and related disorders

M. Castori, A. Hakim, 2017, Current opinion in pediatrics.

A framework for the classification of joint hypermobility and related conditions

R. Grahame, M. Castori, B. Tinkle, 2017, American journal of medical genetics. Part C, Seminars in medical genetics.

Pain in Ehlers-Danlos syndromes: manifestations, therapeutic strategies and future perspectives

M. Castori, 2016 .

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

E. Vicenzini, M. Castori, D. Valente, 2015, Neurological Sciences.

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

M. Venturini, M. Castori, S. Morlino, 2012, American journal of medical genetics. Part A.

Neuropathic pain is a common feature in Ehlers-Danlos syndrome.

L. Padua, M. Castori, P. Grammatico, 2011, Journal of pain and symptom management.

Dermatology Eponyms – sign –Lexicon (P). Part 2

Masaru Tanaka, M. Castori, A. Chiriac, 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.

I. Bottillo, P. Cascone, M. Castori, 2016, Birth defects research. Part A, Clinical and molecular teratology.

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

M. Castori, S. Morlino, P. Grammatico, 2015, American journal of medical genetics. Part C, Seminars in medical genetics.

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

M. Castori, 2012, ISRN dermatology.

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

M. Venturini, P. Calzavara-Pinton, M. Castori, 2014, American journal of medical genetics. Part A.

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

V. Saraceni, V. Santilli, M. Castori, 2010, American journal of medical genetics. Part A.

I. Bottillo, M. Castori, P. Grammatico, 2013, BMC Research Notes.

Variant Selection and Interpretation: An Example of Modified VarSome Classifier of ACMG Guidelines in the Diagnostic Setting

P. Chiurazzi, M. Castori, P. Maltese, 2021, Genes.

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

L. Micale, T. Biagini, M. Carella, 2019, European Journal of Human Genetics.

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

V. Caputo, A. Pizzuti, I. Bottillo, 2016, Gene.

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

Madeline A. Lancaster, E. Bertini, M. Lancaster, 2006, Nature Genetics.

Reassessment of holoprosencephaly–diencephalic hamartoblastoma (HDH) association

B. Dallapiccola, S. Douzgou, F. Encha-Razavi, 2007, American journal of medical genetics. Part A.

Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males

G. Parati, P. Soler-Palacín, M. Girardis, 2021, EBioMedicine.

ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population

A. d’Arminio Monforte, G. Matullo, R. Scala, 2020, European Journal of Human Genetics.

De Novo Mutations in SLC25A24 Cause a Disorder Characterized by Early Aging, Bone Dysplasia, Characteristic Face, and Early Demise.

R. Hennekam, A. V. van Kuilenburg, P. Lapunzina, 2017, American journal of human genetics.

Variants in members of the cadherin–catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome

R. Hennekam, H. Kayserili, P. Lapunzina, 2018, European Journal of Human Genetics.

Compound Phenotype Due to Recessive Variants in LARP7 and OTOG Genes Disclosed by an Integrated Approach of SNP-Array and Whole Exome Sequencing

T. Mazza, S. Castellana, M. Carella, 2020, Genes.

Pro-Fibrotic Phenotype in a Patient with Segmental Stiff Skin Syndrome via TGF-β Signaling Overactivation

P. Graziano, L. Micale, C. Fusco, 2020, International journal of molecular sciences.

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

M. Castori, P. Grammatico, C. Catricalà, 2011, Familial Cancer.

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

E. Bertini, E. Valente, B. Dallapiccola, 2005, Journal of Medical Genetics.

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

B. Dallapiccola, M. Castori, P. Grammatico, 2007, American journal of medical genetics. Part A.

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

M. Castori, P. Grammatico, F. Camerota, 2011, American journal of medical genetics. Part A.

Characterization of Two Novel Intronic Variants Affecting Splicing in FBN1-Related Disorders

L. Micale, C. Fusco, M. Castori, 2019, Genes.

Novel SMAD4 mutation causing Myhre syndrome

V. Caputo, A. Pizzuti, M. Tartaglia, 2014, American journal of medical genetics. Part A.

Deconstructing and reconstructing joint hypermobility on an evo-devo perspective.

M. Castori, 2021, Rheumatology.

Employing a systematic approach to biobanking and analyzing clinical and genetic data for advancing COVID-19 research

S. Ceri, A. d’Arminio Monforte, P. Pinoli, 2021, European Journal of Human Genetics.

Antonio Novelli, Aurelio Secinaro, A. Novelli, 2019, American journal of medical genetics. Part A.

Clinical presentation and molecular characterization of a novel patient with variant POC1A‐related syndrome

L. Micale, E. Agolini, A. Novelli, 2020, Clinical genetics.

Complications related to in vitro reproductive techniques support the implementation of natural procreative technologies

R. Angioli, E. Fulcheri, P. Chiurazzi, 2020, Acta bio-medica : Atenei Parmensis.

Joint hypermobility in children: a neglected sign needing more attention.

M. Castori, 2020, Minerva pediatrica.

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

G. Annessi, M. Castori, G. Zambruno, 2008, Acta dermato-venereologica.

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

M. Castori, M. Ritelli, P. Grammatico, 2010, American journal of medical genetics. Part A.

Human transmissible spongiform encephalopathies.

R. Paschke, S. Dave, F. Lammert, 1998, Releve epidemiologique hebdomadaire.

Phacomatosis cesioflammea with unilateral lipohypoplasia

R. Happle, M. Castori, P. Grammatico, 2008, American journal of medical genetics. Part A.

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

M. Castori, S. Morlino, P. Grammatico, 2012, American journal of medical genetics. Part A.

A Framework for the Classi fi cation of Joint Hypermobility and Related Conditions

R. Grahame, M. Castori, B. Tinkle, 2017 .

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

S. Mundlos, R. Hennekam, T. Mazza, 2018, American journal of medical genetics. Part A.

Elsahy–Waters syndrome: Evidence for autosomal recessive inheritance

R. Hennekam, P. Cascone, M. Castori, 2010, American journal of medical genetics. Part A.

Pharmacogenomics of Pediatric Cardiac Arrest: Cisplatin Treatment Worsened by a Ryanodine Receptor 2 Gene Mutation

S. Castellana, M. Carella, M. Castori, 2022, Cardiogenetics.

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

M. Castori, P. Grammatico, L. Laino, 2010, European journal of medical genetics.

An explainable model of host genetic interactions linked to COVID-19 severity

G. Parati, A. d’Arminio Monforte, F. Chiaromonte, 2021, Communications Biology.

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

S. Heath, F. Brancati, S. Madonna, 2011, Clinical genetics.

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

V. Cimolin, M. Galli, M. Pau, 2014, Journal of the American Podiatric Medical Association.

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

L. Padua, M. Castori, P. Grammatico, 2010, American journal of medical genetics. Part A.

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

M. Castori, G. Zambruno, P. Ghirri, 2007, The British journal of dermatology.

Evaluation of Kinesiophobia and Its Correlations with Pain and Fatigue in Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome Hypermobility Type

G. La Torre, M. Castori, F. Camerota, 2013, BioMed research international.

Rare Somatic MEN1 Gene Pathogenic Variant in a Patient Affected by Atypical Parathyroid Adenoma

S. Castellana, P. Graziano, T. Biagini, 2020, International journal of endocrinology.

Phenotypic Variability of a Pathogenic PKP2 Mutation in an Italian Family Affected by Arrhythmogenic Cardiomyopathy and Juvenile Sudden Death: Considerations From Molecular Autopsy to Sport Restriction

T. Mazza, S. Castellana, M. Carella, 2021, Frontiers in Cardiovascular Medicine.

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

M. Bamshad, M. Castori, P. Grammatico, 2009, American journal of medical genetics. Part A.

COL6A5 variants in familial neuropathic chronic itch

S. Dib-Hajj, S. Waxman, M. Cocca, 2017, Brain : a journal of neurology.

Orthostatic Intolerance and Postural Orthostatic Tachycardia Syndrome in Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome, Hypermobility Type: Neurovegetative Dysregulation or Autonomic Failure?

G. Calcagnini, F. Censi, M. Castori, 2017, BioMed research international.

From the bedside to the bench and backwards: diagnostic approach and management of Ehlers-Danlos syndrome(s) in Italy

M. Castori, M. Colombi, 2016 .

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

M. Castori, P. Grammatico, F. Camerota, 2012, American journal of ophthalmology.

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

P. Cascone, M. Castori, P. Grammatico, 2011, American journal of medical genetics. Part A.

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

M. Curione, M. Castori, F. Camerota, 2014, Clinical Rheumatology.

Amplification of protease-activated receptors signaling in sporadic cerebral cavernous malformation endothelial cells.

C. Rinaldi, C. Fusco, C. Alafaci, 2023, Biochimica et biophysica acta. Molecular cell research.

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

L. Padua, G. Granata, V. Saraceni, 2013, Clinical Neurophysiology.

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

M. Castori, M. Biondi, M. Pasquini, 2014, Rheumatology International.

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

M. Castori, P. Grammatico, L. Laino, 2016, American journal of medical genetics. Part A.

Pai syndrome: first patient with agenesis of the corpus callosum and literature review.

M. Castori, P. Grammatico, R. Rinaldi, 2007, Birth defects research. Part A, Clinical and molecular teratology.

Double missense mutations in cardiac myosin‐binding protein C and myopalladin genes: A case report with diffuse coronary disease, complete atrioventricular block, and progression to dilated cardiomyopathy

T. Mazza, S. Castellana, M. Carella, 2020, Annals of noninvasive electrocardiology : the official journal of the International Society for Holter and Noninvasive Electrocardiology, Inc.

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

M. Castori, P. Grammatico, I. Sperduti, 2011, Clinical and experimental rheumatology.

Copy number variation analysis implicates novel pathways in patients with oculo‐auriculo‐vertebral‐spectrum and congenital heart defects

S. Bianca, M. Digilio, F. Brancati, 2021, Clinical genetics.

Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann–Steiner and Rubinstein–Taybi syndromes

T. Mazza, S. Castellana, G. Merla, 2020, European Journal of Human Genetics.

Identification of a second HOXA2 nonsense mutation in a family with autosomal dominant non‐syndromic microtia and distinctive ear morphology

V. Guida, M. Castori, S. Morlino, 2017, Clinical genetics.

Mutations in the CEP290 gene, encoding a centrosomal protein, cause pleiotropic forms of Joubert Syndrome

E. Bertini, M. Lancaster, F. Brancati, 2006 .

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

V. Cimolin, M. Galli, G. Albertini, 2012, Research in developmental disabilities.

Refining patterns of joint hypermobility, habitus, and orthopedic traits in joint hypermobility syndrome and Ehlers–Danlos syndrome, hypermobility type

M. Venturini, M. Castori, S. Morlino, 2017, American journal of medical genetics. Part A.

Spectral-Domain Optical Coherence Tomography Analysis in Syndromic and Nonsyndromic Forms of Retinitis Pigmentosa due to USH2A Genetic Variants

M. Castori, P. Maltese, M. Bertelli, 2021, Ophthalmic Research.

Holoprosencephaly‐diencephalic hamartoma: Sequence or pleiotropy?

M. Castori, 2010, American journal of medical genetics. Part A.

A new insight on postural tachycardia syndrome in 102 adults with hypermobile Ehlers-Danlos Syndrome/hypermobility spectrum disorder.

G. Calcagnini, F. Censi, M. Castori, 2020, Monaldi archives for chest disease = Archivio Monaldi per le malattie del torace.

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

M. Castori, V. Guarnieri, 2018, Current Osteoporosis Reports.

A simultaneous next-generation sequencing approach to the diagnosis of couple infertility.

V. Precone, M. Castori, Angelantonio Notarangelo, 2021, Minerva endocrinology.

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

A. Berardelli, A. Albanese, G. Defazio, 2003, Journal of neurology, neurosurgery, and psychiatry.

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

A. Pizzuti, M. Castori, P. Grammatico, 2011, American journal of medical genetics. Part A.

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

Antonio Novelli, Giuseppe Guglielmi, Enrico Bertini, 2019, American journal of medical genetics. Part A.

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

I. Bottillo, M. Castori, S. Morlino, 2014, Molecular Syndromology.

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

A. Tormene, F. Brancati, E. Valente, 2005, Investigative Ophthalmology and Visual Science.

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

L. Sinibaldi, M. Castori, C. Baeza-Velasco, 2018, ADHD Attention Deficit and Hyperactivity Disorders.

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

P. Cascone, M. Castori, F. Midulla, 2016, Journal of Maxillofacial and Oral Surgery.

A novel homozygous variant in COX5A causes an attenuated phenotype with failure to thrive, lactic acidosis, hypoglycemia, and short stature

R. Carrozzo, A. Torraco, M. Castori, 2022, Clinical genetics.

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

I. Torrente, M. Castori, M. Paradisi, 2008, Journal of dermatological science.

Downexpression of miR-200c-3p Contributes to Achalasia Disease by Targeting the PRKG1 Gene

A. Latiano, O. Palmieri, F. Perri, 2022, International journal of molecular sciences.

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

M. Castori, A. Baban, 2018, Expert review of clinical pharmacology.

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

M. Copetti, A. Fontana, C. Clark, 2018, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

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

F. Cardona, M. Castori, S. Morlino, 2018, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

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

M. Castori, P. Grammatico, C. Catricalà, 2012, Familial Cancer.

Placing joint hypermobility in context: traits, disorders and syndromes.

M. Castori, S. Morlino, 2023, British medical bulletin.

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

M. Castori, P. Grammatico, F. Camerota, 2011, Clinical and experimental rheumatology.

Ultra-rare RTEL1 gene variants associate with acute severity of COVID-19 and evolution to pulmonary fibrosis as a specific long COVID disorder

G. Parati, R. Scala, M. Girardis, 2023, Respiratory Research.

Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility

L. Micale, B. Pasini, C. Fusco, 2023, Human Genetics.

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

P. Caso, D. Toni, M. Castori, 2015, Internal and Emergency Medicine.

Genetic testing for vascular Ehlers-Danlos syndrome and other variants with fragility of the middle arteries

T. Beccari, M. Castori, P. Maltese, 2018, The EuroBiotech Journal.

Rehabiliation vs Surgery for Recurrent Snapping Hip in A 26-Year-Old Man with Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome Hypermobility Type: A Biomechanical Study

Cimolin, M. Galli, G. Albertini, 2015 .

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

V. Cimolin, M. Galli, G. Albertini, 2011, Research in developmental disabilities.

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

M. Galli, G. Albertini, M. Castori, 2011, Arthritis care & research.

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

V. Cimolin, M. Galli, G. Albertini, 2022 .

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

M. Venturini, P. Calzavara-Pinton, M. Castori, 2015, American journal of medical genetics. Part C, Seminars in medical genetics.

Compound Heterozygosity for OTOA Truncating Variant and Genomic Rearrangement Cause Autosomal Recessive Sensorineural Hearing Loss in an Italian Family

L. Micale, A. Petracca, M. Castori, 2021, Audiology research.

Generalized joint hypermobility, joint hypermobility syndrome and Ehlers‐Danlos syndrome, hypermobility type

M. Castori, M. Colombi, 2015, American journal of medical genetics. Part C, Seminars in medical genetics.

Clinical and molecular description of the first Italian cohort of 33 subjects with hypophosphatasia

S. Cannavò, T. Biagini, B. Augello, 2023, Frontiers in endocrinology.

Opitz syndrome: improving clinical interpretation of intronic variants in MID1 gene

L. Micale, G. Meroni, C. Fusco, 2022, Pediatric Research.

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

M. Sana, P. Nürnberg, A. Novelli, 2015, American journal of medical genetics. Part A.

Mapping the human genetic architecture of COVID-19

Mattia G. Bergomi, Christopher M. DeBoever, Matthew A. Wiles, 2021, Nature.

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

F. Brancati, M. Castori, G. Ghibellini, 2015, American journal of medical genetics. Part C, Seminars in medical genetics.

Mapping the human genetic architecture of COVID-19

Eurie L. Hong, E. F. Perez, Rachel G Liao, 2021 .

Hereditary fructose intolerance

Jeroen J. Bax, R. Paschke, S. Dave, 2020, Definitions.

Growth in Distal Arthrogryposes

M. Castori, 2012 .

Nucleotide substitutions at the p.Gly117 and p.Thr180 mutational hot-spots of SKI alter molecular dynamics and may affect cell cycle.

L. Micale, C. Fusco, E. Agolini, 2023, Journal of human genetics.

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

T. Mazza, M. Castori, S. Morlino, 2019, American journal of medical genetics. Part A.

SD-OCT analysis in syndromic and non-syndromic forms of retinitis pigmentosa due to USH2A gene mutations.

M. Castori, P. Maltese, M. Bertelli, 2021, Ophthalmic research.

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

E. Giacopuzzi, M. Castori, S. Morlino, 2017, American journal of medical genetics. Part A.

Novel TNXB Variants in Two Italian Patients with Classical-Like Ehlers-Danlos Syndrome

T. Mazza, L. Micale, M. Carella, 2019, Genes.

Ehlers-Danlos syndromes: state of the art on clinical practice guidelines

Matthias Schneider, S. Bombardieri, M. Cutolo, 2018, RMD Open.

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

F. Zaccagna, M. Castori, M. Ritelli, 2012, American journal of medical genetics. Part A.

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

G. La Torre, M. Castori, P. Grammatico, 2011, American journal of medical genetics. Part A.

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

V. Saraceni, V. Santilli, M. Castori, 2010, American journal of medical genetics. Part A.

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

Manuela Galli, Veronica Cimolin, Giorgio Albertini, 2013, Research in developmental disabilities.

Pain in Ehlers-Danlos syndromes: manifestations, therapeutic strategies and future perspectives

M. Castori, 2016 .

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

M. Castori, Nicol C. Voermans, 2014, Iranian journal of neurology.

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

F. Passarelli, M. Castori, M. Paradisi, 2009, European journal of medical genetics.

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

F. Brancati, M. Castori, G. Ghibellini, 2015, American journal of medical genetics. Part C, Seminars in medical genetics.

Joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type: constructing a rehabilitative approach

M. Castori, C. Celletti, G. Morico, 2014 .

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

M. Castori, S. Morlino, P. Grammatico, 2014, American journal of medical genetics. Part A.

Evaluation of lower limb disability in joint hypermobility syndrome

M. Castori, P. Grammatico, F. Camerota, 2012, Rheumatology International.

Temporomandibular joint mobility in adult females with Ehlers-Danlos syndrome, hypermobility type (also known as joint hypermobility syndrome)

Manuela Galli, Andrea Ancillao, Giorgio Albertini, 2012 .

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

M. Castori, P. Grammatico, F. Camerota, 2011, American journal of medical genetics. Part A.

Variants in members of the cadherin–catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome

R. Hennekam, H. Kayserili, P. Lapunzina, 2018, European Journal of Human Genetics.

Palmoplantar keratoderma in keratosis follicularis spinulosa decalvans.

M. Castori, M. V. Masala, M. Montesu, 2010, European journal of dermatology : EJD.

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

G. Annessi, M. Castori, G. Zambruno, 2008, Acta Dermato-Venereologica.

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

M. Castori, M. Ritelli, P. Grammatico, 2010, American journal of medical genetics. Part A.