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Respiratory virus infection triggers acute psoriasis flares across different clinical subtypes and genetic backgrounds

British journal of dermatology (1951), 2019-12, Vol.181 (6), p.1304-1306

2019

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Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility

British journal of dermatology (1951), 2020-10, Vol.183 (4), p.614-627

2020

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SERCA pumps and human diseases

Sub-cellular biochemistry, 2007, Vol.45, p.337

Hovnanian, A

2007

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Dystrophic epidermolysis bullosa pruriginosa: a new case series of a rare phenotype unveils skewed Th2 immunity

Journal of the European Academy of Dermatology and Venereology, 2022-01, Vol.36 (1), p.133-143

2022

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HLA-A31:01 and different types of carbamazepine-induced severe cutaneous adverse reactions: an international study and meta-analysis

The pharmacogenomics journal, 2014-06, Vol.14 (3), p.281-288

2014

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Clinical characteristics and genetic analysis of 14 patients affected with acne fulminans and hidradenitis suppurativa: ASH syndrome, a new phenotypic entity

Journal of the American Academy of Dermatology, 2024-10

2024

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PASH syndrome (pyoderma gangrenosum, acne and hidradenitis suppurativa): a disease with genetic heterogeneity

British journal of dermatology (1951), 2018-01, Vol.178 (1), p.e17-e18

2018

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Harlequin ichthyosis unmasked: a defect of lipid transport

The Journal of clinical investigation, 2005-07, Vol.115 (7), p.1708-1710

Hovnanian, Alain

2005

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The 420K LEKTI variant alters LEKTI proteolytic activation and results in protease deregulation: implications for atopic dermatitis

Human molecular genetics, 2012-10, Vol.21 (19), p.4187-4200

2012

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Bone marrow transplant with post‐transplant cyclophosphamide for recessive dystrophic epidermolysis bullosa expands the related donor pool and permits tolerance of nonhaematopoietic cellular grafts

British journal of dermatology (1951), 2019-12, Vol.181 (6), p.1238-1246

2019

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“African” acral keratoderma: Further evidence for a single entity. A retrospective study of 42 patients

Annales de dermatologie et de vénéréologie, 2023-03, Vol.150 (1), p.16-23

2023

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EBGene trial: patient preselection outcomes for the European GENEGRAFT ex vivo phase I/II gene therapy trial for recessive dystrophic epidermolysis bullosa

British journal of dermatology (1951), 2020-03, Vol.182 (3), p.794-797

2020

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First nicastrin mutation in PASH (pyoderma gangrenosum, acne and suppurative hidradenitis) syndrome

British journal of dermatology (1951), 2015-08, Vol.173 (2), p.610-612

2015

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The challenging management of a series of 43 infants with Netherton syndrome: unexpected complications and novel mutations

British journal of dermatology (1951), 2021-03, Vol.184 (3), p.532-537

2021

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A new nonsense mutation in the POGLUT1 gene in two sisters with Dowling–Degos disease

Journal of the European Academy of Dermatology and Venereology, 2018-12, Vol.32 (12), p.e440-e442

2018

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Genitoperineal papular acantholytic dyskeratosis is allelic to Hailey-Hailey disease

British journal of dermatology (1951), 2012-07, Vol.167 (1), p.210-212

2012

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A marker for Stevens-Johnson syndrome ...: ethnicity matters

The pharmacogenomics journal, 2006-07, Vol.6 (4), p.265-268

2006

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Olmsted syndrome with erythromelalgia caused by recessive transient receptor potential vanilloid 3 mutations

British journal of dermatology (1951), 2014-09, Vol.171 (3), p.675-678

2014

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用于 RDEB 的 PTCy BMT

British journal of dermatology (1951), 2019-12, Vol.181 (6), p.e171-e171

2019

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PTCy BMT for RDEB

British journal of dermatology (1951), 2019-12, Vol.181 (6), p.e159-e159

2019

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Marked intrafamilial phenotypic heterogeneity in dystrophic epidermolysis bullosa caused by inheritance of a mild dominant glycine substitution and a novel deep intronic recessive COL7A1 mutation

British journal of dermatology (1951), 2016-05, Vol.174 (5), p.1122-1125

2016

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Familial pachyonychia congenita with steatocystoma multiplex and multiple abscesses of the scalp due to the p.Asn92Ser mutation in keratin 17

British journal of dermatology (1951), 2014-12, Vol.171 (6), p.1565-1567

2014

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Keratitis-ichthyosis-deafness syndrome: disease expression and spectrum of connexin 26 (GJB2) mutations in 14 patients

British journal of dermatology (1951), 2007-05, Vol.156 (5), p.1015-1019

2007

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Immune reactivity to type VII collagen: implications for gene therapy of recessive dystrophic epidermolysis bullosa

Gene therapy, 2010-07, Vol.17 (7), p.930-937

2010

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377 Type VII collagen (C7) expression and chimerism after bone marrow/cord blood transplantation (BMCBT) for severe generalized recessive dystrophic epidermolysis bullosa (RDEB)

Journal of investigative dermatology, 2017-05, Vol.137 (5), p.S65-S65

2017

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Respiratory virus infection triggers acute psoriasis flares across different clinical subtypes and genetic backgrounds

Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility

SERCA pumps and human diseases

Dystrophic epidermolysis bullosa pruriginosa: a new case series of a rare phenotype unveils skewed Th2 immunity

HLA-A31:01 and different types of carbamazepine-induced severe cutaneous adverse reactions: an international study and meta-analysis

Clinical characteristics and genetic analysis of 14 patients affected with acne fulminans and hidradenitis suppurativa: ASH syndrome, a new phenotypic entity

PASH syndrome (pyoderma gangrenosum, acne and hidradenitis suppurativa): a disease with genetic heterogeneity

Harlequin ichthyosis unmasked: a defect of lipid transport

The 420K LEKTI variant alters LEKTI proteolytic activation and results in protease deregulation: implications for atopic dermatitis

Bone marrow transplant with post‐transplant cyclophosphamide for recessive dystrophic epidermolysis bullosa expands the related donor pool and permits tolerance of nonhaematopoietic cellular grafts

“African” acral keratoderma: Further evidence for a single entity. A retrospective study of 42 patients

EBGene trial: patient preselection outcomes for the European GENEGRAFT ex vivo phase I/II gene therapy trial for recessive dystrophic epidermolysis bullosa

First nicastrin mutation in PASH (pyoderma gangrenosum, acne and suppurative hidradenitis) syndrome

The challenging management of a series of 43 infants with Netherton syndrome: unexpected complications and novel mutations

A new nonsense mutation in the POGLUT1 gene in two sisters with Dowling–Degos disease

Genitoperineal papular acantholytic dyskeratosis is allelic to Hailey-Hailey disease

A marker for Stevens-Johnson syndrome ...: ethnicity matters

Olmsted syndrome with erythromelalgia caused by recessive transient receptor potential vanilloid 3 mutations

用于 RDEB 的 PTCy BMT

PTCy BMT for RDEB

Marked intrafamilial phenotypic heterogeneity in dystrophic epidermolysis bullosa caused by inheritance of a mild dominant glycine substitution and a novel deep intronic recessive COL7A1 mutation

Familial pachyonychia congenita with steatocystoma multiplex and multiple abscesses of the scalp due to the p.Asn92Ser mutation in keratin 17

Keratitis-ichthyosis-deafness syndrome: disease expression and spectrum of connexin 26 (GJB2) mutations in 14 patients

Immune reactivity to type VII collagen: implications for gene therapy of recessive dystrophic epidermolysis bullosa

377 Type VII collagen (C7) expression and chimerism after bone marrow/cord blood transplantation (BMCBT) for severe generalized recessive dystrophic epidermolysis bullosa (RDEB)

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