Lista de obras -

A Mutation in LIPN, Encoding Epidermal Lipase N, Causes a Late-Onset Form of Autosomal-Recessive Congenital Ichthyosis ⬇️

artículo científico publicado el 8 de abril de 2011

A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosis

artículo científico publicado en 2006

A mutation in SNAP29, coding for a SNARE protein involved in intracellular trafficking, causes a novel neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma

artículo científico publicado en 2005

A novel missense mutation affecting the human hairless thyroid receptor interacting domain 2 causes congenital atrichia

artículo científico publicado en 2002

A study of histologic and immunophenotypical staining patterns in cutaneous lymphoid hyperplasia ⬇️

artículo científico publicado el 17 de abril de 2011

Acne during adolescence did not predict skin rash reaction to cetuximab

artículo científico publicado en 2016

Alopecia, neurological defects, and endocrinopathy syndrome caused by decreased expression of RBM28, a nucleolar protein associated with ribosome biogenesis

artículo científico publicado en 2008

Anti–Laminin-332 Mucous Membrane Pemphigoid Developing After a Diphtheria Tetanus Vaccination ⬇️

artículo científico publicado el 1 de julio de 2013

Atopic dermatitis keratinocytes exhibit normal T(H)17 cytokine responses

artículo científico publicado en 2010

Broad defects in epidermal cornification in atopic dermatitis identified through genomic analysis

scientific article published on 01 December 2009

Cement-Induced Chromate Occupational Allergic Contact Dermatitis

artículo científico publicado en 2016

Chromate Allergy in Northern Israel in Relation to Exposure to Cement and Detergents

artículo científico publicado en 2016

Clinical and imaging findings in patients with neurosyphilis: a study of a cohort and review of the literature

artículo científico publicado en 2013

Complete regression of mycosis fungoides after ipilimumab therapy for advanced melanoma

artículo científico publicado en 2015

Dermatopathology and molecular genetics

artículo científico publicado en 2008

Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting

scientific article published on 25 August 2013

Does infection play a role in the pathogenesis of granuloma annulare? ⬇️

artículo científico publicado el 1 de febrero de 2013

Epidermolysis Bullosa Simplex with Mottled Pigmentation Resulting from a Recurrent Mutation in KRT14

artículo científico publicado en 2006

IL-22-producing "T22" T cells account for upregulated IL-22 in atopic dermatitis despite reduced IL-17-producing TH17 T cells

artículo científico publicado en 2009

Identification of a novel locus associated with congenital recessive ichthyosis on 12p11.2-q13.

artículo científico publicado en 2005

Identification of mutations in the human hairless gene in two new families with congenital atrichia

artículo científico publicado en 2007

In vivo assessment of aged human skin with a unilateral NMR scanner

artículo científico publicado en 2015

Infection with Kaposi's sarcoma-associated herpesvirus among families of patients with classic Kaposi's sarcoma.

artículo científico publicado en 2005

Insect bite-like reaction associated with mantle cell lymphoma: a report of two cases and review of the literature

artículo científico publicado en 2004

Insulin-like growth factor-binding protein 7 regulates keratinocyte proliferation, differentiation and apoptosis

artículo científico publicado en 2009

Junctional epidermolysis bullosa in the Middle East: clinical and genetic studies in a series of consanguineous families

artículo científico publicado en 2002

KRT14 haploinsufficiency results in increased susceptibility of keratinocytes to TNF-alpha-induced apoptosis and causes Naegeli-Franceschetti-Jadassohn syndrome

artículo científico publicado en 2007

Large leg ulcers due to autoimmune diseases

artículo científico publicado en 2011

Low expression of the IL-23/Th17 pathway in atopic dermatitis compared to psoriasis

artículo científico publicado en 2008

Major differences in inflammatory dendritic cells and their products distinguish atopic dermatitis from psoriasis.

artículo científico publicado en 2007

Mortality and Cause of Death in Patients with Pemphigus

artículo científico publicado en 2017

Multifocal Congenital Lymphangioendotheliomatosis Without Gastrointestinal Bleeding and/or Thrombocytopenia ⬇️

artículo científico publicado el 1 de diciembre de 2010

Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis

artículo científico publicado en 2004

Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14

artículo científico publicado en 2006

Olmsted syndrome: mutilating palmoplantar keratoderma with periorificial keratotic plaques

artículo científico publicado en 2005

Pemphigus Vulgaris and Pemphigus Foliaceus: Differences in Epidemiology and Mortality

artículo científico publicado en 2017

Prolidase deficiency associated with systemic lupus erythematosus (SLE): single site experience and literature review ⬇️

artículo científico publicado el 22 de junio de 2012

RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndrome

artículo científico publicado en 2009

Remarkable differences in the epidemiology of pemphigus among two ethnic populations in the same geographic region

artículo científico publicado en 2016

Sequence variation in PPP1R13L results in a novel form of cardio-cutaneous syndrome.

artículo científico publicado en 2017

Sequence variation in PPP1R13L results in a novel form of cardio-cutaneous syndrome.

artículo científico publicado en 2017

Targeting perlecan in human keratinocytes reveals novel roles for perlecan in epidermal formation

artículo científico publicado en 2005

The applicability of the new WHO-EORTC classification of primary cutaneous lymphomas to a single referral center

artículo científico publicado en 2008

What syndrome is this? Bazex-Dupre-Christol syndrome

artículo científico publicado en 2006

Lista de obras de

A Mutation in LIPN, Encoding Epidermal Lipase N, Causes a Late-Onset Form of Autosomal-Recessive Congenital Ichthyosis ⬇️

A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosis

A mutation in SNAP29, coding for a SNARE protein involved in intracellular trafficking, causes a novel neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma

A novel missense mutation affecting the human hairless thyroid receptor interacting domain 2 causes congenital atrichia

A study of histologic and immunophenotypical staining patterns in cutaneous lymphoid hyperplasia ⬇️

Acne during adolescence did not predict skin rash reaction to cetuximab

Alopecia, neurological defects, and endocrinopathy syndrome caused by decreased expression of RBM28, a nucleolar protein associated with ribosome biogenesis

Anti–Laminin-332 Mucous Membrane Pemphigoid Developing After a Diphtheria Tetanus Vaccination ⬇️

Atopic dermatitis keratinocytes exhibit normal T(H)17 cytokine responses

Broad defects in epidermal cornification in atopic dermatitis identified through genomic analysis

Cement-Induced Chromate Occupational Allergic Contact Dermatitis

Chromate Allergy in Northern Israel in Relation to Exposure to Cement and Detergents

Clinical and imaging findings in patients with neurosyphilis: a study of a cohort and review of the literature

Complete regression of mycosis fungoides after ipilimumab therapy for advanced melanoma

Dermatopathology and molecular genetics

Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting

Does infection play a role in the pathogenesis of granuloma annulare? ⬇️

Epidermolysis Bullosa Simplex with Mottled Pigmentation Resulting from a Recurrent Mutation in KRT14

IL-22-producing "T22" T cells account for upregulated IL-22 in atopic dermatitis despite reduced IL-17-producing TH17 T cells

Identification of a novel locus associated with congenital recessive ichthyosis on 12p11.2-q13.

Identification of mutations in the human hairless gene in two new families with congenital atrichia

In vivo assessment of aged human skin with a unilateral NMR scanner

Infection with Kaposi's sarcoma-associated herpesvirus among families of patients with classic Kaposi's sarcoma.

Insect bite-like reaction associated with mantle cell lymphoma: a report of two cases and review of the literature

Insulin-like growth factor-binding protein 7 regulates keratinocyte proliferation, differentiation and apoptosis

Junctional epidermolysis bullosa in the Middle East: clinical and genetic studies in a series of consanguineous families

KRT14 haploinsufficiency results in increased susceptibility of keratinocytes to TNF-alpha-induced apoptosis and causes Naegeli-Franceschetti-Jadassohn syndrome

Large leg ulcers due to autoimmune diseases

Low expression of the IL-23/Th17 pathway in atopic dermatitis compared to psoriasis

Major differences in inflammatory dendritic cells and their products distinguish atopic dermatitis from psoriasis.

Mortality and Cause of Death in Patients with Pemphigus

Multifocal Congenital Lymphangioendotheliomatosis Without Gastrointestinal Bleeding and/or Thrombocytopenia ⬇️

Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis

Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14

Olmsted syndrome: mutilating palmoplantar keratoderma with periorificial keratotic plaques

Pemphigus Vulgaris and Pemphigus Foliaceus: Differences in Epidemiology and Mortality

Prolidase deficiency associated with systemic lupus erythematosus (SLE): single site experience and literature review ⬇️

RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndrome

Remarkable differences in the epidemiology of pemphigus among two ethnic populations in the same geographic region

Sequence variation in PPP1R13L results in a novel form of cardio-cutaneous syndrome.

Sequence variation in PPP1R13L results in a novel form of cardio-cutaneous syndrome.

Targeting perlecan in human keratinocytes reveals novel roles for perlecan in epidermal formation

The applicability of the new WHO-EORTC classification of primary cutaneous lymphomas to a single referral center

What syndrome is this? Bazex-Dupre-Christol syndrome