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

Journal of the European Academy of Dermatology and Venereology, 2018-05, Vol.32 (5), p.704-719

2018

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Diabetic Embryopathy: A Developmental Perspective from Fertilization to Adulthood

Molecular syndromology, 2013-02, Vol.4 (1-2), p.74-86

Castori, M.

2013

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

European journal of pain, 2016-09, Vol.20 (8), p.1319-1325

2016

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

Clinical and experimental rheumatology, 2011-11, Vol.29 (6), p.998

2011

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

Journal of the European Academy of Dermatology and Venereology, 2018-06, Vol.32 (6), p.899-925

2018

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

Human genetics, 2023-03, Vol.142 (3), p.343-350

2023

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

Clinical and experimental rheumatology, 2011-05, Vol.29 (3), p.597

2011

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Pachydermoperiostosis: an update

Clinical genetics, 2005-12, Vol.68 (6), p.477-486

2005

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

Clinical genetics, 2017-12, Vol.92 (6), p.624-631

2017

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

Clinical genetics, 2018-01, Vol.93 (1), p.126-133

2018

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

Clinical genetics, 2017-05, Vol.91 (5), p.774-779

2017

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

Clinical neurophysiology, 2013-08, Vol.124 (8), p.1689-1694

2013

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

Clinical and experimental dermatology, 2019-08, Vol.44 (6), p.706-708

2019

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

European journal of human genetics : EJHG, 2011-08, Vol.19 (8), p.875-881

2011

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

Clinica terapeutica, 2021-01, Vol.171 (1), p.e4-e7

2021

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

Clinical neurophysiology, 2016-12, Vol.127 (12), p.e332-e332

2016

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Novel mutations of the PRKAR1A gene in patients with acrodysostosis

Clinical genetics, 2013-12, Vol.84 (6), p.531-538

2013

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

Clinical genetics, 2011-01, Vol.79 (1), p.92-95

2011

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

Clinical and experimental dermatology, 2011-08, Vol.36 (6), p.690-692

2011

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

Clinical and experimental dermatology, 2016-08, Vol.41 (6), p.632-635

2016

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

Clinical genetics, 2009-06, Vol.75 (6), p.556-561

2009

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

Journal of medical genetics, 2004-03, Vol.41 (3), p.188-192

2004

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

Journal of medical genetics, 2005-02, Vol.42 (2), p.e9-e9

2005

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

British journal of dermatology (1951), 2010-06, Vol.162 (6), p.1384-1387

2010

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

Clinical genetics, 2009-10, Vol.76 (4), p.392-397

2009

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

Diabetic Embryopathy: A Developmental Perspective from Fertilization to Adulthood

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

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

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

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

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

Pachydermoperiostosis: an update

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

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

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

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

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

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

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

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

Novel mutations of the PRKAR1A gene in patients with acrodysostosis

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

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

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

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

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

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

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

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

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