Smail Hadj Rabia (S Hadj-Rabia, Smaïl Hadj-Rabia, Smail Hadj-Rabia)

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 41

Top Topics

Duchenne Muscular Dystrophy

Pulmonary Fibrosis

Top Venues

Journal of the European Academy of Dermatology and Venereology : JEADV

The British journal of dermatology

American journal of medical genetics. Part A

International journal of molecular sciences

This page only lists publications with an associated author ORCID identifier.

Publications

Julie Steffann, Judite De Oliveira Santos, Anne-Laure Zelbin, Smail Hadj Rabia, Fabienne Charbit-Henrion, Florence Petit
Familial recurrence of incontinentia pigmenti due to de novo pathogenic variants in the IKBKG gene. American journal of medical genetics. Part A 194 (8) (2024)
Didier Bessis, Anne-Claire Bursztejn, Fanny Morice-Picard, Yline Capri, Sébastien Barbarot, Hélène Aubert, Damien Bodet, Emmanuelle Bourrat, Christine Chiaverini, Laura Poujade, Marjolaine Willems, Jacques Rouanet, Anne Dompmartin-Blanchère, David Geneviève, Marion Gerard, Emmanuelle Ginglinger, Smail Hadj Rabia, Ludovic Martin, Juliette Mazereeuw-Hautier, Nathalie Bibas, Nicolas Molinari, Fanchon Herman, Alice Phan, Julien Rod, Hugues Roger, Sabine Sigaudy, Alban Ziegler, Yoann Vial, Alain Verloes, Hélène Cave, Didier Lacombe
Dermatological manifestations in Costello syndrome: A prospective multicentric study of 31 HRAS-positive variant patients. Journal of the European Academy of Dermatology and Venereology : JEADV (2024)
Modibo Diallo, Cécile Courdier, Elina Mercier, Angèle Sequeira, Alicia Defay-Stinat, Claudio Plaisant, Shahram Mesdaghi, Daniel J Rigden, Sophie Javerzat, Eulalie Lasseaux, Laetitia Bourgeade, Séverine Audebert-Bellanger, Hélène Dollfus, Smail Hadj Rabia, Fanny Morice-Picard, Manon Philibert, Mohamed Kole Sidibé, Vasily M Smirnov, Ousmane Sylla, Vincent Michaud, Benoit Arveiler
Functional Characterization of Splice Variants in the Diagnosis of Albinism. International journal of molecular sciences 25 (16) (2024)
Modibo Diallo, Cécile Courdier, Elina Mercier, Angèle Sequeira, Alicia Defay-Stinat, Claudio Plaisant, Shahram Mesdaghi, Daniel J Rigden, Sophie Javerzat, Eulalie Lasseaux, Laetitia Bourgeade, Séverine Audebert-Bellanger, Hélène Dollfus, Smail Hadj Rabia, Fanny Morice-Picard, Manon Philibert, Mohamed Kole Sidibé, Vasily M Smirnov, Ousmane Sylla, Vincent Michaud, Benoit Arveiler
Functional Characterization of Splice Variants in the Diagnosis of Albinism. International journal of molecular sciences 25 (16) (2024)
Julie Steffann, Judite De Oliveira Santos, Anne-Laure Zelbin, Smail Hadj Rabia, Fabienne Charbit-Henrion, Florence Petit
Familial recurrence of incontinentia pigmenti due to de novo pathogenic variants in the IKBKG gene. American journal of medical genetics. Part A (2024)
Pauline Bataille, Benedicte Lebrun-Vignes, Thomas Bettuzzi, Saskia Ingen Housz Oro, Smail Hadj Rabia, Anne Welfringer-Morin, Christine Bodemer
Drugs associated with epidermal necrolysis in children: A World Health Organization pharmacovigilance database analysis. Journal of the European Academy of Dermatology and Venereology : JEADV (2024)
Smail Hadj Rabia, T Nguyen-Khoa, Jacob Mashiah
Sweat volume quantification in paediatric population. Journal of the European Academy of Dermatology and Venereology : JEADV (2024)
Julie Steffann, Judite De Oliveira Santos, Anne-Laure Zelbin, Smail Hadj Rabia, Fabienne Charbit-Henrion, Florence Petit
Familial recurrence of incontinentia pigmenti due to de novo pathogenic variants in the IKBKG gene. American journal of medical genetics. Part A 194 (8) (2024)
Didier Bessis, Anne-Claire Bursztejn, Fanny Morice-Picard, Yline Capri, Sébastien Barbarot, Hélène Aubert, Damien Bodet, Emmanuelle Bourrat, Christine Chiaverini, Laura Poujade, Marjolaine Willems, Jacques Rouanet, Anne Dompmartin-Blanchère, David Geneviève, Marion Gerard, Emmanuelle Ginglinger, Smail Hadj Rabia, Ludovic Martin, Juliette Mazereeuw-Hautier, Nathalie Bibas, Nicolas Molinari, Fanchon Herman, Alice Phan, Julien Rod, Hugues Roger, Sabine Sigaudy, Alban Ziegler, Yoann Vial, Alain Verloes, Hélène Cave, Didier Lacombe
Dermatological manifestations in Costello syndrome: A prospective multicentric study of 31 HRAS-positive variant patients. Journal of the European Academy of Dermatology and Venereology : JEADV 38 (9) (2024)
Pauline Bataille, Benedicte Lebrun-Vignes, Thomas Bettuzzi, Saskia Ingen Housz Oro, Smail Hadj Rabia, Anne Welfringer-Morin, Christine Bodemer
Drugs associated with epidermal necrolysis in children: A World Health Organization pharmacovigilance database analysis. Journal of the European Academy of Dermatology and Venereology : JEADV 38 (9) (2024)
Didier Bessis, Anne-Claire Bursztejn, Fanny Morice-Picard, Yline Capri, Sébastien Barbarot, Hélène Aubert, Damien Bodet, Emmanuelle Bourrat, Christine Chiaverini, Laura Poujade, Marjolaine Willems, Jacques Rouanet, Anne Dompmartin-Blanchère, David Geneviève, Marion Gerard, Emmanuelle Ginglinger, Smail Hadj Rabia, Ludovic Martin, Juliette Mazereeuw-Hautier, Nathalie Bibas, Nicolas Molinari, Fanchon Herman, Alice Phan, Julien Rod, Hugues Roger, Sabine Sigaudy, Alban Ziegler, Yoann Vial, Alain Verloes, Hélène Cave, Didier Lacombe
Dermatological manifestations in Costello syndrome: A prospective multicentric study of 31 HRAS-positive variant patients. Journal of the European Academy of Dermatology and Venereology : JEADV 38 (9) (2024)
Julie Steffann, Judite De Oliveira Santos, Anne-Laure Zelbin, Smail Hadj Rabia, Fabienne Charbit-Henrion, Florence Petit
Familial recurrence of incontinentia pigmenti due to de novo pathogenic variants in the IKBKG gene. American journal of medical genetics. Part A 194 (8) (2024)
O Letertre, M L Jullie, M P Reboul, S Leclerc-Mercier, F Charbit, F Boralevi, C Labrèze, Smail Hadj Rabia, Fanny Morice-Picard
Mosaic GJB2 mutation A88V leading to diffuse neonatal hyperkeratosis and porokeratotic hamartoma. Journal of the European Academy of Dermatology and Venereology : JEADV (2023)
Vincent Michaud, Angèle Tingaud-Sequeira, Elina Mercier, Eulalie Lasseaux, Claudio Plaisant, Smail Hadj Rabia, Sandra Whalen, Dominique Bonneau, Anne Dieux-Coeslier, Fanny Morice-Picard, Juliette Coursimault, Benoit Arveiler, Sophie Javerzat
Unsuspected consequences of synonymous and missense variants in OCA2 can be detected in blood cell RNA samples of patients with albinism. Pigment cell & melanoma research (2023)
Stephanie Leclerc-Mercier, S Mercier, N Bellon, Smail Hadj Rabia, C Bodemer, P Hoeger, Sébastien Barbarot, S Fraitag
Skin biopsy is helpful in the diagnosis of hereditary fibrosing POIKiloderma with tendon contractures, myopathy and pulmonary fibrosis, due to FAM111B mutation. Journal of the European Academy of Dermatology and Venereology : JEADV 36 (6) (2022)
A Labonnelie, V Soupre, A Maruani, S Cisternino, Smail Hadj Rabia, Olivia Boccara
Management of sirolimus treatment for tumours associated with Kasabach-Merritt phenomenon. Journal of the European Academy of Dermatology and Venereology : JEADV 36 (7) (2022)
Nicolas Obtel, Adeline Le Cabec, Thè Nghia Nguyen, Fréderic Brioude, Stijn J M Van Malderen, Jan Garrevoet, Aline Percot, Céline Paris, M Christopher Dean, Smail Hadj Rabia, Pascal Houillier, Tilman Breiderhoff, Claire Bardet, Thibaud Coradin, Fernando V Ramirez-Rozzi, Catherine Chaussain
Impact of claudin-10 deficiency on amelogenesis: Lesson from a HELIX tooth. Annals of the New York Academy of Sciences 1516 (1) (2022)
Camille Grodner, Juliette Miquel, Smail Hadj Rabia, Stéphanie Mallet, Franck Boralevi, Mazereeuw-Hautier Juliette, Nacer Benzebouchi, Marie Dhers, Elisa Goujon, Philippe Bensaïd, Emmanuel Mahé
Crusted scabies in children in France: a series of 20 cases. European journal of pediatrics (2021)
E Moreno-Artero, Fanny Morice-Picard, D Bremond-Gignac, I Drumare-Bouvet, C Duncombe-Poulet, S Leclerc-Mercier, H Dufresne, J Kaplan, B Jouanne, B Arveiler, Alain Taieb, Smail Hadj Rabia
Management of albinism: French guidelines for diagnosis and care. Journal of the European Academy of Dermatology and Venereology : JEADV 35 (7) (2021)
A L Hérissé, A Charlesworth, N Bellon, S Leclerc-Mercier, E Bourrat, Smail Hadj Rabia, C Bodemer, J P Lacour, Christine Chiaverini
Genotypic and phenotypic analysis of 34 cases of inherited junctional epidermolysis bullosa caused by COL17A1 mutations. The British journal of dermatology 184 (5) (2021)
C Bodemer, Andrea Diociaiuti, Smail Hadj Rabia, M P Robert, I Desguerre, M-C Manière, M de la Dure-Molla, P De Liso, M Federici, A Galeotti, F Fusco, S Fraitag, C Demily, C Taieb, M Valeria Ursini, M El Hachem, J Steffann
Multidisciplinary consensus recommendations from a European network for the diagnosis and practical management of patients with incontinentia pigmenti. Journal of the European Academy of Dermatology and Venereology : JEADV 34 (7) (2021)
Laura Fertitta, A Welfringer-Morin, A Ouedrani, L Polivka, S Chhun, L Chatenoud, J Fourgeaud, Smail Hadj Rabia, S Temmam, M Eloit, I Sermet-Gaudelus, C Bodemer
Immunological and virological profile of children with chilblain-like lesions and SARS-CoV-2. Journal of the European Academy of Dermatology and Venereology : JEADV 35 (3) (2020)
H Dufresne, L Bekel, S Compain, E Deladrière, N Bellon, C Bodemer, Smail Hadj Rabia
Efficiency of a therapeutic patient education programme in children with severe atopic dermatitis. Journal of the European Academy of Dermatology and Venereology : JEADV 34 (10) (2020)
A Charlesworth, A L Hérissé, N Bellon, S Leclerc-Mercier, E Bourrat, Smail Hadj Rabia, C Bodemer, J P Lacour, Christine Chiaverini
Genotypic and Phenotypic Analysis of 34 Cases of Inherited Junctional Epidermolysis Bullosa caused by COL17A1 Mutations. The British journal of dermatology (2020)
H Dufresne, P Bataille, N Bellon, S Compain, E Deladrière, L Bekel, E Sbidian, C Bodemer, Smail Hadj Rabia
Risk factors for corticophobia in atopic dermatitis. Journal of the European Academy of Dermatology and Venereology : JEADV 34 (12) (2020)
Alexia Maillard, Caroline Alby, Eric Gabison, Serge Doan, Frédéric Caux, Christine Bodemer, Smail Hadj Rabia
P63-related disorders: Dermatological characteristics in 22 patients. Experimental dermatology 28 (10) (2020)
John Timothy Wright, Mary Fete, Holm Schneider, Madelaine Zinser, Maranke I Koster, Angus J Clarke, Smail Hadj Rabia, Gianluca Tadini, Nina Pagnan, Atila F Visinoni, Birgitta Bergendal, Becky Abbott, Timothy Fete, Clark Stanford, Clayton Butcher, Rena N D'Souza, Virginia P Sybert, Maria I Morasso
Ectodermal dysplasias: Classification and organization by phenotype, genotype and molecular pathway. American journal of medical genetics. Part A 179 (3) (2019)
A Welfringer-Morin, S Fraitag, X Balguerie, C Laaengh-Massoni, S Leclerc-Mercier, Smail Hadj Rabia, C Bodemer, Olivia Boccara
Late ulceration of residual abortive infantile haemangioma: a rare complication. The British journal of dermatology 181 (2) (2019)
L Giraud, A Welfringer-Morin, Olivia Boccara, A Frassati-Biaggi, S Leclerc-Mercier, S Grootenboer-Mignot, C Bodemer, Smail Hadj Rabia
Neonatal and self-healing linear immunoglobulin A dermatosis. Journal of the European Academy of Dermatology and Venereology : JEADV 34 (2) (2019)
Benjamin Dudoignon, Celine Huber, Caroline Michot, Federico Di Rocco, Muriel Girard, Stanislas Lyonnet, Marlène Rio, Smail Hadj Rabia, Valérie Cormier Daire, Geneviève Baujat
Expanding the phenotype in Adams-Oliver syndrome correlating with the genotype. American journal of medical genetics. Part A 182 (1) (2019)
Didier Bessis, J Miquel, E Bourrat, Christine Chiaverini, Fanny Morice-Picard, C Abadie, F Manna, C Baumann, M Best, P Blanchet, Anne-Claire Bursztejn, Y Capri, C Coubes, F Giuliano, S Guillaumont, Smail Hadj Rabia, M-L Jacquemont, C Jeandel, D Lacombe, S Mallet, J Mazereeuw-Hautier, N Molinari, V Pallure, C Pernet, N Philip, L Pinson, P Sarda, S Sigaudy, Y Vial, M Willems, D Geneviève, A Verloes, H Cavé
Dermatological manifestations in Noonan syndrome: a prospective multicentric study of 129 patients positive for mutation. The British journal of dermatology 180 (6) (2019)
A Schreiber, V Soupre, N Kadlub, E Galliani, A Picard, B Chrétien-Marquet, S Pannier, S Guéro, N Khen-Dunlop, Smail Hadj Rabia, P Delanoe, C Bodemer, Olivia Boccara
Does surgery of lymphatic malformations lead to an increase in superficial lymphangiectasia? A retrospective study of 43 patients. The British journal of dermatology 181 (6) (2019)
C Meni, S Georgin-Lavialle, L Le Saché de Peufeilhoux, J P Jais, Smail Hadj Rabia, J Bruneau, S Fraitag, K Hanssens, P Dubreuil, O Hermine, C Bodemer
Paediatric mastocytosis: long-term follow-up of 53 patients with whole sequencing of KIT. A prospective study. The British journal of dermatology 179 (4) (2018)
Mazereeuw-Hautier Juliette, Angela Hernández-Martín, E A O'Toole, A Bygum, C Amaro, M Aldwin, A Audouze, C Bodemer, E Bourrat, A Diociaiuti, M Dolenc-Voljč, I Dreyfus, Maya El Hachem, J Fischer, A Ganemo, C Gouveia, R Gruber, Smail Hadj Rabia, D Hohl, N Jonca, K Ezzedine, D Maier, R Malhotra, M Rodriguez, H Ott, D G Paige, A Pietrzak, F Poot, M Schmuth, J C Sitek, P Steijlen, G Wehr, M Moreen, A Vahlquist, H Traupe, V Oji
Management of congenital ichthyoses: European guidelines of care, part two. The British journal of dermatology 180 (3) (2018)
Mazereeuw-Hautier Juliette, A Vahlquist, H Traupe, A Bygum, C Amaro, M Aldwin, A Audouze, C Bodemer, E Bourrat, A Diociaiuti, M Dolenc-Voljc, I Dreyfus, M El Hachem, J Fischer, A Gånemo, C Gouveia, R Gruber, Smail Hadj Rabia, D Hohl, N Jonca, K Ezzedine, D Maier, R Malhotra, M Rodriguez, H Ott, D G Paige, A Pietrzak, F Poot, M Schmuth, J C Sitek, P Steijlen, G Wehr, M Moreen, E A O'Toole, V Oji, A Hernandez-Martin
Management of congenital ichthyoses: European guidelines of care, part one. The British journal of dermatology 180 (2) (2018)
Didier Bessis, Fanny Morice-Picard, E Bourrat, C Abadie, S Aouinti, C Baumann, M Best, A-C Bursztejn, Y Capri, C Chiaverini, C Coubes, F Giuliano, Smail Hadj Rabia, M-L Jacquemont, D Lacombe, S Lyonnet, S Mallet, Mazereeuw-Hautier Juliette, J Miquel, N Molinari, B Parfait, C Pernet, N Philip, L Pinson, N Pouvreau, Y Vial, P Sarda, S Sigaudy, A Verloes, H Cavé, D Geneviève
Dermatological manifestations in cardiofaciocutaneous syndrome: a prospective multicentric study of 45 mutation-positive patients. The British journal of dermatology 180 (1) (2018)
H Dufresne, Smail Hadj Rabia, C Bodemer
Impact of a rare chronic genodermatosis on family daily life: the example of epidermolysis bullosa. The British journal of dermatology 179 (5) (2018)
J Mashiah, A Harel, C Bodemer, Smail Hadj Rabia, I Goldberg, E Sprecher, A Kutz
Topical pimecrolimus for paediatric cutaneous mastocytosis. Clinical and experimental dermatology 43 (5) (2018)
Z Alabdullatif, J Coulombe, J Steffann, C Bodemer, Smail Hadj Rabia
Postzygotic mosaicism and incontinentia pigmenti in male patients: molecular diagnosis yield. The British journal of dermatology 178 (4) (2018)
Smail Hadj Rabia, Holm Schneider, Elena Navarro, Ophir Klein, Neil Kirby, Kenneth Huttner, Lior Wolf, Melanie Orin, Sigrun Wohlfart, Christine Bodemer, Dorothy K Grange
Automatic recognition of the XLHED phenotype from facial images. American journal of medical genetics. Part A 173 (9) (2017)
O Boccara, E Puzenat, S Proust, T Leblanc, D Lasne, Smail Hadj Rabia, C Bodemer
The effects of sirolimus on Kasabach-Merritt phenomenon coagulopathy. The British journal of dermatology 178 (2) (2017)