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B. Bouadjar · SciRah

Researcher profile · Semantic Scholar

B. Bouadjar

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B. Bouadjar — researcher profile on SciRah

h-index: 25
Works: 31
Citations: 3,323

Most-cited papers

Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome.
C. Lefévre, F. Jobard, F. Caux, B. Bouadjar +10 more
2001American Journal of Human Genetics464 citations Open access
Semantic Scholar
Mutations in two adjacent novel genes are associated with epidermodysplasia verruciformis
N. Ramoz, L. Rueda, B. Bouadjar, Luz-Stella Montoya +2 more
2002Nature Genetics446 citations
Semantic Scholar
Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2.
C. Lefévre, S. Audebert, F. Jobard, B. Bouadjar +9 more
2003Human Molecular Genetics288 citations
Semantic Scholar
Identification of mutations in a new gene encoding a FERM family protein with a pleckstrin homology domain in Kindler syndrome.
F. Jobard, B. Bouadjar, F. Caux, S. Hadj-Rabia +6 more
2003Human Molecular Genetics251 citations Open access
Semantic Scholar
Mutations in the gene encoding SLURP-1 in Mal de Meleda.
J. Fischer, B. Bouadjar, R. Heilig, M. Huber +9 more
2001Human Molecular Genetics199 citations Open access
Semantic Scholar
Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3.
C. Lefévre, B. Bouadjar, V. Ferrand, G. Tadini +4 more
2006Human Molecular Genetics196 citations
Semantic Scholar
Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis.
C. Lefévre, B. Bouadjar, A. Karaduman, F. Jobard +5 more
2004Human Molecular Genetics179 citations Open access
Semantic Scholar
Mutations in the fatty acid transport protein 4 gene cause the ichthyosis prematurity syndrome.
J. Klar, M. Schweiger, R. Zimmerman, R. Zechner +6 more
2009American Journal of Human Genetics166 citations Open access
Semantic Scholar
High levels of patched gene mutations in basal-cell carcinomas from patients with xeroderma pigmentosum.
N. Bodak, S. Queillé, M. Avril, B. Bouadjar +3 more
1999Proceedings of the National Academy of Sciences of the United States of America129 citations Open access
Semantic Scholar
Evidence for a nonallelic heterogeneity of epidermodysplasia verruciformis with two susceptibility loci mapped to chromosome regions 2p21-p24 and 17q25.
N. Ramoz, A. Taïeb, L. Rueda, Luz-Stella Montoya +3 more
2000Journal of Investigative Dermatology125 citations Open access
Semantic Scholar
A susceptibility locus for epidermodysplasia verruciformis, an abnormal predisposition to infection with the oncogenic human papillomavirus type 5, maps to chromosome 17qter in a region containing a psoriasis locus.
N. Ramoz, M. Favre, G. Orth, L. Rueda +1 more
1999Journal of Investigative Dermatology103 citations Open access
Semantic Scholar
A prevalent mutation with founder effect in xeroderma pigmentosum group C from north Africa.
N. Soufir, C. Ged, A. Bourillon, F. Austerlitz +13 more
2010Journal of Investigative Dermatology96 citations Open access
Semantic Scholar
Two new loci for autosomal recessive ichthyosis on chromosomes 3p21 and 19p12-q12 and evidence for further genetic heterogeneity.
J. Fischer, A. Faure, B. Bouadjar, Claudine Blanchet-Bardon +7 more
2000American Journal of Human Genetics82 citations Open access
Semantic Scholar
Clues to epidermal cancer proneness revealed by reconstruction of DNA repair-deficient xeroderma pigmentosum skin in vitro
F. Bernerd, D. Asselineau, Corinne Vioux, O. Chevallier-Lagente +3 more
2001Proceedings of the National Academy of Sciences of the United States of America81 citations Open access
Semantic Scholar
Significantly high levels of ultraviolet-specific mutations in the smoothened gene in basal cell carcinomas from DNA repair-deficient xeroderma pigmentosum patients.
Sophie Couvé-Privat, B. Bouadjar, M. Avril, A. Sarasin +1 more
2002Cancer Research59 citations
Semantic Scholar
Functional Analysis of Novel Sonic Hedgehog Gene Mutations Identified in Basal Cell Carcinomas from Xeroderma Pigmentosum Patients
Sophie Couvé-Privat, M. Le Bret, E. Traiffort, S. Queillé +6 more
2004Cancer Research53 citations
Semantic Scholar
Genetic linkage of Meleda disease to chromosome 8qter
J. Fischer, B. Bouadjar, R. Heilig, C. Fizames +2 more
1998European Journal of Human Genetics52 citations
Semantic Scholar
Novel mutations in ALOX12B in patients with autosomal recessive congenital ichthyosis and evidence for genetic heterogeneity on chromosome 17p13.
F. Lesueur, B. Bouadjar, C. Lefévre, F. Jobard +9 more
2007Journal of Investigative Dermatology46 citations Open access
Semantic Scholar
Genotype–Phenotype Correlations Emerging from the Identification of Missense Mutations in MBTPS2
D. Bornholdt, T. Atkinson, B. Bouadjar, B. Catteau +20 more
2013Human Mutation44 citations Open access
Semantic Scholar
Novel point mutations, deletions, and polymorphisms in the cathepsin C gene in nine families from Europe and North Africa with Papillon-Lefèvre syndrome.
Claudine Blanchet-Bardon, B. Bouadjar, J. Stalder, Susan Cure +5 more
2001Journal of Investigative Dermatology41 citations Open access
Semantic Scholar
Novel mutations in the gene encoding secreted lymphocyte antigen-6/urokinase-type plasminogen activator receptor-related protein-1 (SLURP-1) and description of five ancestral haplotypes in patients with Mal de Meleda.
S. Marrakchi, S. Audebert, B. Bouadjar, C. Has +10 more
2003Journal of Investigative Dermatology38 citations Open access
Semantic Scholar
Whole-Exome-Sequencing Reveals Small Deletions in CASP14 in Patients with Autosomal Recessive Inherited Ichthyosis.
P. Kirchmeier, A. Zimmer, B. Bouadjar, B. Rösler +1 more
2017Acta Dermato-Venereologica37 citations Open access
Semantic Scholar
Meta-Analysis of Mutations in ALOX12B or ALOXE3 Identified in a Large Cohort of 224 Patients
A. Hotz, J. Kopp, E. Bourrat, V. Oji +27 more
2021Genes32 citations Open access
Semantic Scholar
Catalase overexpression reduces UVB-induced apoptosis in a human xeroderma pigmentosum reconstructed epidermis
H. Rezvani, Cécile Ged, B. Bouadjar, H. de Verneuil +1 more
2008Cancer Gene Therapy32 citations Open access
Semantic Scholar
EPIMAG: International Cross-Sectional Epidemiological Psoriasis Study in the Maghreb
A. Ammar-Khodja, I. Benkaidali, B. Bouadjar, A. Serradj +11 more
2015Dermatology30 citations
Semantic Scholar
Mutational Spectrum of the ABCA12 Gene and Genotype–Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis
A. Hotz, J. Kopp, E. Bourrat, V. Oji +17 more
2023Genes18 citations Open access
Semantic Scholar
Genetical, clinical, and functional analysis of a large international cohort of patients with autosomal recessive congenital ichthyosis due to mutations in NIPAL4
N. Ballin, A. Hotz, E. Bourrat, J. Küsel +19 more
2019Human Mutation18 citations Open access
Semantic Scholar
Xeroderma pigmentosum. Etude de 40 malades algériens.
B. Bouadjar, F. Aït-Belkacem, L. Daya‐Grosjean, A. Sarasin +10 more
199611 citations
Semantic Scholar
[Partial lipodystrophy, glomerulonephritis and hypocomplementemia].
B. Bouadjar, A. Kaci, M. Ysmaïl-Dahlouk
1991Annales de dermatologie et de vénéréologie9 citations
Semantic Scholar
[Multiple pilomatrixoma and myotonic dystrophy].
B. Bouadjar, A. Masmoudi, A. Bouhadef, M. Ysmail-Dahlouk
1992Annales de dermatologie et de vénéréologie4 citations
Semantic Scholar
[Xeroderma pigmentosum. A study in 40 Algerian patients].
B. Bouadjar, F. Aït-Belkacem, L. Daya‐Grosjean, A. Sarasin +10 more
1996Annales de dermatologie et de vénéréologie3 citations
Semantic Scholar

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