Lista de obras - Smail Hadj-rabia - Dominio Público Uruguay

A New Lamin A Mutation Associated with Acrogeria Syndrome

artículo científico publicado en 2014

A familial case of Keratitis-Ichthyosis-Deafness (KID) syndrome with the GJB2 mutation G45E

artículo científico publicado en 2007

A novel PCR approach for prenatal detection of the common NEMO rearrangement in incontinentia pigmenti

artículo científico publicado en 2004

A novel form of syndromic cutis laxa with facial dysmorphism, cleft palate, and mental retardation.

artículo científico publicado en 2004

A prevalent mutation with founder effect in xeroderma pigmentosum group C from north Africa

artículo científico publicado en 2010

Acro-osteolysis, keloid like-lesions, distinctive facial features, and overgrowth: Two newly recognized patients with premature aging syndrome, penttinen type

artículo científico publicado en 2013

Angiosarcoma in patients with xeroderma pigmentosum: less aggressive and not so rare?

artículo científico publicado en 2013

Automatic recognition of the XLHED phenotype from facial images

artículo científico publicado en 2017

Autosomal dominant anhidrotic ectodermal dysplasias at the EDARADD locus

Beard infantile hemangioma and subglottic involvement: are median pattern and telangiectatic aspect the clue?

artículo científico publicado en 2016

Bilateral amastia in a female with X-linked hypohidrotic ectodermal dysplasia.

artículo científico publicado en 2014

Both recessive and dominant forms of anhidrotic/hypohidrotic ectodermal dysplasia map to chromosome 2q11-q13.

artículo científico publicado en 1999

Claudin-1 gene mutations in neonatal sclerosing cholangitis associated with ichthyosis: a tight junction disease

article

Clinical Study of 40 Cases of Incontinentia Pigmenti

artículo científico publicado en 2003

Clinical and histologic features of incontinentia pigmenti in adults with nuclear factor-κB essential modulator gene mutations.

artículo científico publicado en 2011

Clinical characteristics predicting internal neurofibromas in 357 children with neurofibromatosis-1: results from a cross-selectional study.

artículo científico publicado en 2012

Clinical spectrum of tufted angiomas in childhood: a report of 13 cases and a review of the literature

artículo científico publicado en 2010

Cognitive profile of school-age children and teenagers with hypohidrotic ectodermal dysplasia (HED)

Combination of palmoplantar keratoderma and hair shaft anomalies, the warning signal of severe arrhythmogenic cardiomyopathy: a systematic review on genetic desmosomal diseases

artículo científico

Congenital Erosive and Vesicular Dermatosis: A New Case and Review of the Literature ⬇️

artículo científico publicado el 30 de diciembre de 2011

Crouzon syndrome with acanthosis nigricans: a case-based update.

artículo científico publicado en 2010

Cutaneous location of atypical teratoid/rhabdoid tumour

artículo científico publicado en 2014

Cytostéatonécrose néonatale compliquée d'une hypercalcémie symptomatique: efficacité des corticoïdes à faible dose

artículo científico publicado en 2006

Dental and extra-oral clinical features in 41 patients with WNT10A gene mutations: A multicentric genotype-phenotype study

artículo científico publicado en 2017

Dento-craniofacial phenotypes and underlying molecular mechanisms in hypohidrotic ectodermal dysplasia (HED): a review.

artículo científico publicado en 2008

Dento-maxillo-facial phenotype and implants-based oral rehabilitation in Ectodermal Dysplasia with WNT10A gene mutation: report of a case and literature review.

artículo científico

Dermatological manifestations in Noonan syndrome: a prospective multicentric study of 129 patients positive for mutation

scientific article published on 18 January 2019

Dermatological manifestations in cardiofaciocutaneous syndrome: a prospective multicentric study of 45 mutation-positive patients

artículo científico publicado en 2018

Development and validation of an epidermolysis bullosa family/parental burden score

artículo científico publicado en 2015

Do the Side Effects of BRAF Inhibitors Mimic RASopathies?

artículo científico publicado en 2017

Does surgery of lymphatic malformations lead to an increase in superficial lymphangiectasia? A retrospective study of 43 patients

scientific article published on 25 August 2019

Ectodermal dysplasias: Classification and organization by phenotype, genotype and molecular pathway

scientific article published on 31 January 2019

Eosinophilic esophagitis and colonic mucosal eosinophilia in Netherton syndrome

artículo científico publicado en 2016

Expanding the phenotype in Adams-Oliver syndrome correlating with the genotype

scientific article published on 25 October 2019

Familial hypochondroplasia and acanthosis nigricans with FGFR3 K650T mutation.

artículo científico publicado en 2015

Family burden in inherited ichthyosis: creation of a specific questionnaire ⬇️

artículo científico publicado el 15 de febrero de 2013

First fixed drug eruption due to teicoplanin with a peri-oral distribution.

artículo científico publicado en 2009

Folliculocystic and collagen hamartoma of tuberous sclerosis complex

article

Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6

artículo científico publicado en 2011

Generalized exanthematous pustular dermatophytid, a rare clinical presentation of dermatophytid reaction

artículo científico publicado en 2015

Genotype-phenotype correlations emerging from the identification of missense mutations in MBTPS2.

artículo científico publicado en 2013

Genotypic and Phenotypic Analysis of 34 Cases of Inherited Junctional Epidermolysis Bullosa caused by COL17A1 Mutations

scientific article published on 10 September 2020

Genotypic and phenotypic analysis of 34 cases of inherited junctional epidermolysis bullosa caused by COL17A1 mutations

scientific article published on 04 January 2021

Germline mosaicism in keratitis-ichthyosis-deafness syndrome: pre-natal diagnosis in a familial lethal form

artículo científico publicado en 2010

Healing of Old World cutaneous leishmaniasis in travelers treated with fluconazole: drug effect or spontaneous evolution?

artículo científico publicado en 2007

Hereditary cholestasis, an unusual etiology of pruritus in the infant

artículo científico publicado en 2004

Hereditary epidermolysis bullosa: French national guidelines (PNDS) for diagnosis and treatment

artículo científico publicado en 2016

Heterozygous PDGFRB Mutation in a Three-generation Family with Autosomal Dominant Infantile Myofibromatosis.

artículo científico publicado en 2017

High seroprevalence to Bartonella quintana in homeless patients with cutaneous parasitic infestations in downtown Paris.

artículo científico publicado en 2001

Homozygosity mapping of a locus for a novel syndromic ichthyosis to chromosome 3q27-q28.

artículo científico publicado en 2002

Human epidermal Langerhans cells express the tight junction protein claudin-1 and are present in human genetic claudin-1 deficiency (NISCH syndrome).

artículo científico publicado en 2008

Human-Induced Pluripotent Stem Cell‒Derived Keratinocytes, a Useful Model to Identify and Explore the Pathological Phenotype of Epidermolysis Bullosa Simplex

artículo científico publicado en 2022

Ichthyosis as the dermatological phenotype associated with TTC7A mutations.

artículo científico publicado en 2016

Identification of mutations in a new gene encoding a FERM family protein with a pleckstrin homology domain in Kindler syndrome

artículo científico publicado en 2003

Imagerie Reponse - Quel est votre diagnostic ?

artículo científico publicado en 2005

Immune system disturbances in Clouston syndrome.

artículo científico publicado en 2015

Immunological and virological profile of children with chilblain-like lesions and SARS-CoV-2

scientific article published on 03 October 2020

Impact of a rare chronic genodermatosis on family daily life: the example of epidermolysis bullosa

artículo científico publicado en 2018

Impact of sex and age on the clinical and epidemiological aspects of childhood psoriasis: Data from a French cross-sectional multicentre study

artículo científico publicado en 2016

Importance of therapeutic patient education in ichthyosis: results of a prospective single reference center study ⬇️

artículo científico publicado el 1 de agosto de 2013

Infantile myofibromatosis: a series of 28 cases

artículo científico

Insight into IKBKG/NEMO locus: report of new mutations and complex genomic rearrangements leading to incontinentia pigmenti disease

artículo científico

Interleukin-36-receptor antagonist deficiency and generalized pustular psoriasis

artículo científico publicado en 2011

Kaposiform Haemangioendothelioma-spectrum Lesions with Kasabach-Merritt Phenomenon: Retrospective Analysis and Long-term Outcome

artículo científico publicado en 2015

Keratotic follicular plugs with calcifications in Conradi-Hünermann-Happle syndrome: histological, biochemical and genetic testing correlation

artículo científico publicado en 2015

Lack of interaction between NEMO and SHARPIN impairs linear ubiquitination and NF-κB activation and leads to incontinentia pigmenti

artículo científico publicado en 2017

Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy

artículo científico publicado en 2004

Late Recurrence of Inflammatory First-Stage Lesions in Incontinentia Pigmenti

artículo científico publicado en 2003

Late ulceration of residual abortive infantile haemangioma: a rare complication

artículo científico publicado en 2019

Lymphoedema is a potential sequela of Kaposiform haemangioendothelioma: reply from the authors

artículo científico publicado en 2016

Maladie de Fabry - Place du dermatologue et progrès thérapeutiques

artículo científico publicado en 2005

Management of congenital ichthyoses: European guidelines of care, part one

scientific article published on 03 December 2018

Management of congenital ichthyoses: European guidelines of care, part two

scientific article published on 03 December 2018

Melanoma in xeroderma pigmentosum type C children: Overrepresentation of desmoplastic type?

artículo científico publicado en 2015

Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing

artículo científico publicado en 2017

Mortality associated with neurofibromatosis 1: a cohort study of 1895 patients in 1980-2006 in France

artículo científico publicado en 2011

Mosaic Activating Mutations in GNA11 and GNAQ Are Associated with Phakomatosis Pigmentovascularis and Extensive Dermal Melanocytosis. ⬇️

artículo científico publicado en 2016

Multicentre consensus recommendations for skin care in inherited epidermolysis bullosa

artículo científico publicado en 2014

Multidisciplinary consensus recommendations from a European network for the diagnosis and practical management of patients with incontinentia pigmenti

scientific article published on 01 July 2020

Mutant WD-repeat protein in triple-A syndrome

artículo científico publicado en 2000

NF-1Score: a prediction score for internal neurofibromas in neurofibromatosis-1.

artículo científico publicado en 2010

Nail Psoriasis: A Systematic Evaluation in 313 Children with Psoriasis.

artículo científico publicado en 2016

Neonatal and self-healing linear immunoglobulin A dermatosis

artículo científico publicado en 2019

Novel mutation in GJB4 gene (connexin 30.3) in a family with erythrokeratodermia variabilis

artículo científico publicado en 2013

Nutritional outcome in children with severe generalized recessive dystrophic epidermolysis bullosa: a short- and long-term evaluation of gastrostomy and enteral feeding

artículo científico publicado en 2012

Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases

artículo científico publicado en 2011

Osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency in a boy and incontinentia pigmenti in his mother

artículo científico publicado en 2002

P63-related disorders: Dermatological characteristics in 22 patients

scientific article published on 01 October 2019

Paediatric mastocytosis: a systematic review of 1747 cases

artículo científico publicado en 2015

Paediatric mastocytosis: long-term follow-up of 53 patients with whole sequencing of KIT. A prospective study

artículo científico publicado en 2018

Palmoplantar psoriasis, a frequent and severe clinical type of psoriasis in children

article

Pediatric mastocytosis is a clonal disease associated with D816V and other activating c-KIT mutations.

artículo científico publicado en 2009

Pemphigus and depression comorbidity: a case control study.

artículo científico publicado en 2015

Phacomatosis Pigmentokeratotica with Nephroblastoma and Juvenile Hypertension

artículo científico publicado en 2010

Postzygotic mosaicism and incontinentia pigmenti in male patients: molecular diagnosis yield

artículo científico publicado en 2017

Prenatal diagnosis of cardiac rhabdomyomas: incidence of associated cerebral lesions of tuberous sclerosis complex

artículo científico publicado en 2009

Prenatal diagnosis of respiratory chain deficiency by direct mutation screening

Primary gingival squamous cell carcinoma in a xeroderma pigmentosum type C patient

scientific article published on 09 November 2015

Progressive bulbospinal amyotrophy in triple A syndrome with AAAS gene mutation

artículo científico publicado en 2002

Propranolol for treatment of ulcerated infantile hemangiomas.

artículo científico publicado en 2011

Propranolol-resistant infantile haemangiomas.

artículo científico publicado en 2013

Protein truncation test for screening hamartin gene mutations and report of new disease-causing mutations

article

Psoriasis and obesity in French children: a case-control, multicentre study

artículo científico publicado en 2015

Rapamycin-associated lymphoedema in an infant with Kasabach-Merritt phenomenon

artículo científico publicado en 2016

Skin Biopsy in Netherton Syndrome: A Histological Review of a Large Series and New Findings.

artículo científico publicado en 2016

Skin biopsy is helpful for the diagnosis of incontinentia pigmenti at late stage (IV): a series of 26 cutaneous biopsies

artículo científico publicado en 2009

Subcutaneous fat necrosis of the newborn: a systematic evaluation of risk factors, clinical manifestations, complications and outcome of 16 children

article published in 2007

Systemic treatments in childhood psoriasis: a French multicentre study on 154 children

article

The EDAR370A allele attenuates the severity of hypohidrotic ectodermal dysplasia caused by EDA gene mutation

article

The Rapp-Hodgkin syndrome results from mutations of the TP63 gene

artículo científico publicado en 2003

The effects of sirolimus on Kasabach-Merritt phenomenon coagulopathy.

artículo científico publicado en 2017

TheGJB2 mutation R75Q can cause nonsyndromic hearing loss DFNA3 or hereditary palmoplantar keratoderma with deafness

artículo científico publicado en 2005

Three Severe Cases of EBS Dowling-Meara Caused by Missense and Frameshift Mutations in the Keratin 14 Gene

article

Tibial lymphoplasmacytic plaque: a new, illustrative case of a recently and poorly recognized benign lesion in children

artículo científico publicado en 2012

To Treat Molluscum Contagiosum or Not-Curettage: An Effective, Well-Accepted Treatment Modality.

artículo científico publicado en 2016

Topical pimecrolimus for paediatric cutaneous mastocytosis

artículo científico publicado en 2018

Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity.

artículo científico publicado en 2013

Unexpected extradermatological findings in 31 patients with xeroderma pigmentosum type C.

artículo científico publicado en 2013

Unique subungueal keratoacanthoma revealing incontinentia pigmenti

artículo científico publicado en 2015

Verrues planes profuses sur des plaques de dermatite atopique traitées par tacrolimus pommade

artículo científico publicado en 2006

Wells Syndrome in children and atopy: Retrospective study of 11 cases and review of the literature

artículo científico publicado en 2015

Wells' syndrome after primoinfection by parvovirus B19 in a child

scientific article published on 01 February 2007

X-linked and autosomal recessive Hypohidrotic Ectodermal Dysplasia: genotypic-dental phenotypic findings

scientific article published on 24 February 2010

[Acanthosis nigricans in children and Crouzon syndrome].

artículo científico publicado en 2014

[Anhidrotic ectodermal dysplasia and Incontinentia pigmenti: pieces of the same puzzle]

artículo científico publicado en 2002

[Prenatal diagnosis in dermatology]

artículo científico publicado en 1999

[What's new in pediatric dermatology in 2011?].

artículo científico publicado en 2011

Lista de obras de Smail Hadj-rabia

A New Lamin A Mutation Associated with Acrogeria Syndrome

A familial case of Keratitis-Ichthyosis-Deafness (KID) syndrome with the GJB2 mutation G45E

A novel PCR approach for prenatal detection of the common NEMO rearrangement in incontinentia pigmenti

A novel form of syndromic cutis laxa with facial dysmorphism, cleft palate, and mental retardation.

A prevalent mutation with founder effect in xeroderma pigmentosum group C from north Africa

Acro-osteolysis, keloid like-lesions, distinctive facial features, and overgrowth: Two newly recognized patients with premature aging syndrome, penttinen type

Angiosarcoma in patients with xeroderma pigmentosum: less aggressive and not so rare?

Automatic recognition of the XLHED phenotype from facial images

Autosomal dominant anhidrotic ectodermal dysplasias at the EDARADD locus

Beard infantile hemangioma and subglottic involvement: are median pattern and telangiectatic aspect the clue?

Bilateral amastia in a female with X-linked hypohidrotic ectodermal dysplasia.

Both recessive and dominant forms of anhidrotic/hypohidrotic ectodermal dysplasia map to chromosome 2q11-q13.

Claudin-1 gene mutations in neonatal sclerosing cholangitis associated with ichthyosis: a tight junction disease

Clinical Study of 40 Cases of Incontinentia Pigmenti

Clinical and histologic features of incontinentia pigmenti in adults with nuclear factor-κB essential modulator gene mutations.

Clinical characteristics predicting internal neurofibromas in 357 children with neurofibromatosis-1: results from a cross-selectional study.

Clinical spectrum of tufted angiomas in childhood: a report of 13 cases and a review of the literature

Cognitive profile of school-age children and teenagers with hypohidrotic ectodermal dysplasia (HED)

Combination of palmoplantar keratoderma and hair shaft anomalies, the warning signal of severe arrhythmogenic cardiomyopathy: a systematic review on genetic desmosomal diseases

Congenital Erosive and Vesicular Dermatosis: A New Case and Review of the Literature ⬇️

Crouzon syndrome with acanthosis nigricans: a case-based update.

Cutaneous location of atypical teratoid/rhabdoid tumour

Cytostéatonécrose néonatale compliquée d'une hypercalcémie symptomatique: efficacité des corticoïdes à faible dose

Dental and extra-oral clinical features in 41 patients with WNT10A gene mutations: A multicentric genotype-phenotype study

Dento-craniofacial phenotypes and underlying molecular mechanisms in hypohidrotic ectodermal dysplasia (HED): a review.

Dento-maxillo-facial phenotype and implants-based oral rehabilitation in Ectodermal Dysplasia with WNT10A gene mutation: report of a case and literature review.

Dermatological manifestations in Noonan syndrome: a prospective multicentric study of 129 patients positive for mutation

Dermatological manifestations in cardiofaciocutaneous syndrome: a prospective multicentric study of 45 mutation-positive patients

Development and validation of an epidermolysis bullosa family/parental burden score

Do the Side Effects of BRAF Inhibitors Mimic RASopathies?

Does surgery of lymphatic malformations lead to an increase in superficial lymphangiectasia? A retrospective study of 43 patients

Ectodermal dysplasias: Classification and organization by phenotype, genotype and molecular pathway

Eosinophilic esophagitis and colonic mucosal eosinophilia in Netherton syndrome

Expanding the phenotype in Adams-Oliver syndrome correlating with the genotype

Familial hypochondroplasia and acanthosis nigricans with FGFR3 K650T mutation.

Family burden in inherited ichthyosis: creation of a specific questionnaire ⬇️

First fixed drug eruption due to teicoplanin with a peri-oral distribution.

Folliculocystic and collagen hamartoma of tuberous sclerosis complex

Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6

Generalized exanthematous pustular dermatophytid, a rare clinical presentation of dermatophytid reaction

Genotype-phenotype correlations emerging from the identification of missense mutations in MBTPS2.

Genotypic and Phenotypic Analysis of 34 Cases of Inherited Junctional Epidermolysis Bullosa caused by COL17A1 Mutations

Genotypic and phenotypic analysis of 34 cases of inherited junctional epidermolysis bullosa caused by COL17A1 mutations

Germline mosaicism in keratitis-ichthyosis-deafness syndrome: pre-natal diagnosis in a familial lethal form

Healing of Old World cutaneous leishmaniasis in travelers treated with fluconazole: drug effect or spontaneous evolution?

Hereditary cholestasis, an unusual etiology of pruritus in the infant

Hereditary epidermolysis bullosa: French national guidelines (PNDS) for diagnosis and treatment

Heterozygous PDGFRB Mutation in a Three-generation Family with Autosomal Dominant Infantile Myofibromatosis.

High seroprevalence to Bartonella quintana in homeless patients with cutaneous parasitic infestations in downtown Paris.

Homozygosity mapping of a locus for a novel syndromic ichthyosis to chromosome 3q27-q28.

Human epidermal Langerhans cells express the tight junction protein claudin-1 and are present in human genetic claudin-1 deficiency (NISCH syndrome).

Human-Induced Pluripotent Stem Cell‒Derived Keratinocytes, a Useful Model to Identify and Explore the Pathological Phenotype of Epidermolysis Bullosa Simplex

Ichthyosis as the dermatological phenotype associated with TTC7A mutations.

Identification of mutations in a new gene encoding a FERM family protein with a pleckstrin homology domain in Kindler syndrome

Imagerie Reponse - Quel est votre diagnostic ?

Immune system disturbances in Clouston syndrome.

Immunological and virological profile of children with chilblain-like lesions and SARS-CoV-2

Impact of a rare chronic genodermatosis on family daily life: the example of epidermolysis bullosa

Impact of sex and age on the clinical and epidemiological aspects of childhood psoriasis: Data from a French cross-sectional multicentre study

Importance of therapeutic patient education in ichthyosis: results of a prospective single reference center study ⬇️

Infantile myofibromatosis: a series of 28 cases

Insight into IKBKG/NEMO locus: report of new mutations and complex genomic rearrangements leading to incontinentia pigmenti disease

Interleukin-36-receptor antagonist deficiency and generalized pustular psoriasis

Kaposiform Haemangioendothelioma-spectrum Lesions with Kasabach-Merritt Phenomenon: Retrospective Analysis and Long-term Outcome

Keratotic follicular plugs with calcifications in Conradi-Hünermann-Happle syndrome: histological, biochemical and genetic testing correlation

Lack of interaction between NEMO and SHARPIN impairs linear ubiquitination and NF-κB activation and leads to incontinentia pigmenti

Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy

Late Recurrence of Inflammatory First-Stage Lesions in Incontinentia Pigmenti

Late ulceration of residual abortive infantile haemangioma: a rare complication

Lymphoedema is a potential sequela of Kaposiform haemangioendothelioma: reply from the authors

Maladie de Fabry - Place du dermatologue et progrès thérapeutiques

Management of congenital ichthyoses: European guidelines of care, part one

Management of congenital ichthyoses: European guidelines of care, part two

Melanoma in xeroderma pigmentosum type C children: Overrepresentation of desmoplastic type?

Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing

Mortality associated with neurofibromatosis 1: a cohort study of 1895 patients in 1980-2006 in France

Mosaic Activating Mutations in GNA11 and GNAQ Are Associated with Phakomatosis Pigmentovascularis and Extensive Dermal Melanocytosis. ⬇️

Multicentre consensus recommendations for skin care in inherited epidermolysis bullosa

Multidisciplinary consensus recommendations from a European network for the diagnosis and practical management of patients with incontinentia pigmenti