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List of works by Smail Hadj-rabia

A New Lamin A Mutation Associated with Acrogeria Syndrome

scientific article published on 01 April 2014

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

scientific article published on 04 October 2007

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

scientific article published on 01 May 2004

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

scientific article published in June 2004

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

scientific article

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

scientific article published on 29 May 2013

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

scientific article published in September 2013

Automatic recognition of the XLHED phenotype from facial images

scientific article published on 10 July 2017

Autosomal dominant anhidrotic ectodermal dysplasias at the EDARADD locus

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

scientific article

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

scientific article published on 11 August 2014

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

scientific article published in February 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

scientific article published on 01 September 2003

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 23 September 2015

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

scientific article published on December 30, 2011

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

scientific article

Cutaneous location of atypical teratoid/rhabdoid tumour

scientific article published in July 2014

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

scientific article published on 22 November 2006

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

scientific article published on 20 January 2017

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

scientific article published on December 2008

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

scientific article published on 15 January 2014

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

scientific article published on 30 September 2018

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

scientific article published on 17 August 2015

Do the Side Effects of BRAF Inhibitors Mimic RASopathies?

scientific article published on April 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

scientific article published on 23 December 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.

scientific article

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

scientific article published on February 15, 2013

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

scientific article published on 19 March 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

scientific article published on 29 December 2011

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

scientific article published on 13 February 2015

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

scientific article published on 8 March 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

scientific article published on 14 April 2010

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

scientific article published on 01 January 2007

Hereditary cholestasis, an unusual etiology of pruritus in the infant

scientific article published in December 2004

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

scientific article published on 5 December 2016

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

scientific article published in July 2017

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

scientific article published on February 2001

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

scientific article

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

scientific article

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

scientific article published in 2022

Ichthyosis as the dermatological phenotype associated with TTC7A mutations.

scientific article published on 31 August 2016

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

scientific article

Imagerie Reponse - Quel est votre diagnostic ?

scientific article published on 01 July 2005

Immune system disturbances in Clouston syndrome.

scientific article published on 9 November 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

scientific article published on 05 September 2018

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

scientific article

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

scientific article published on August 1, 2013

Infantile myofibromatosis: a series of 28 cases

scientific article published on 02 June 2014

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

scientific article published on 12 December 2013

Interleukin-36-receptor antagonist deficiency and generalized pustular psoriasis

scientific article

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

scientific article

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

scientific article published on 05 October 2015

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

scientific article published on 26 February 2017

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

scientific article

Late Recurrence of Inflammatory First-Stage Lesions in Incontinentia Pigmenti

scientific article published on 01 February 2003

Late ulceration of residual abortive infantile haemangioma: a rare complication

scientific article published on 22 April 2019

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

scientific article published on 11 August 2016

Maladie de Fabry - Place du dermatologue et progrès thérapeutiques

scientific article published in February 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?

scientific article

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

scientific article published on 2 February 2017

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

scientific article

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

scientific article published on 14 January 2016

Multicentre consensus recommendations for skin care in inherited epidermolysis bullosa

scientific article

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

scientific article (publication date: November 2000)

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

scientific article

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

scientific article published on 22 November 2016

Neonatal and self-healing linear immunoglobulin A dermatosis

scientific article published on 28 October 2019

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

scientific article published in March 2013

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

scientific article published in February 2012

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

scientific article published in January 2011

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

scientific article published in June 2002

P63-related disorders: Dermatological characteristics in 22 patients

scientific article published on 01 October 2019

Paediatric mastocytosis: a systematic review of 1747 cases

scientific article published on 08 February 2015

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

scientific article published on 09 September 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.

scientific article

Pemphigus and depression comorbidity: a case control study.

scientific article published on 6 November 2015

Phacomatosis Pigmentokeratotica with Nephroblastoma and Juvenile Hypertension

scientific article published on 01 May 2010

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

scientific article

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

scientific article published on 01 August 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

scientific article (publication date: 26 March 2002)

Propranolol for treatment of ulcerated infantile hemangiomas.

scientific article published on 25 February 2011

Propranolol-resistant infantile haemangiomas.

scientific article published in July 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

scientific article published on 22 March 2015

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

scientific article published on 20 January 2016

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

scientific article published on February 2016

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

scientific article published in September 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

scientific article published in September 2003

The effects of sirolimus on Kasabach-Merritt phenomenon coagulopathy.

scientific article

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

scientific article published on 01 August 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

scientific article published on 16 August 2012

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

scientific article published on 7 September 2016

Topical pimecrolimus for paediatric cutaneous mastocytosis

scientific article published on 20 February 2018

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

scientific article published on 25 February 2013

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

scientific article

Unique subungueal keratoacanthoma revealing incontinentia pigmenti

scientific article published on 21 September 2015

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

scientific article published on 01 August 2006

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

scientific article published on 3 April 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].

scientific article published on 7 August 2014

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

scientific article published on 01 March 2002

[Prenatal diagnosis in dermatology]

scientific article published on 01 December 1999

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

scientific article

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