S. Morlino

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

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

Functional Characterization of a Novel Truncating Mutation in Lamin A/C Gene in a Family with a Severe Cardiomyopathy with Conduction Defects

I. Bottillo, S. Morlino, P. Grammatico, 2017, Cellular Physiology and Biochemistry.

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.

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

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

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.

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.

Functional Characterization of a Novel Truncating Mutation in Lamin A/C Gene in a Family with a Severe Cardiomyopathy with Conduction Defects

I. Bottillo, S. Morlino, P. Grammatico, 2017, Cellular Physiology and Biochemistry.

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

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.

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.

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.

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.

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.

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.

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.

Craniosynostosis is a feature of CHD7‐related CHARGE syndrome

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

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.

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.

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.

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

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

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.

Missense mutations of CACNA1A are a frequent cause of autosomal dominant nonprogressive congenital ataxia.

E. Bertini, Massimiliano Valeriani, A. D’Amico, 2017, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

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.

Electroclinical features of MEF2C haploinsufficiency-related epilepsy: A multicenter European study

P. Striano, R. Møller, E. Gardella, 2021, Seizure.

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.

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.

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 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.

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.

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

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

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.

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.

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

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

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.

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.

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.