Get started
Author

Asma Smahi

Observed names: A Smahi, A. Smahi, ASMAE SMAHI, Asmae Smahi, Smahi A, Smahi, A., Smahi, Asma
Institutions: Hôpital Necker-Enfants Malades, Centre National de la Recherche Scientifique, Inserm, Université Paris Cité, Sorbonne Paris Cité, Institut des Maladies Génétiques Imagine, Université Paris Descartes
Observed institutions: Hôpital Necker-Enfants Malades, Centre National de la Recherche Scientifique, Inserm, Shanghai Jiao Tong University, National and Kapodistrian University of Athens, Université Paris Cité, Ruijin Hospital, Institut Necker Enfants Malades, Sorbonne Paris Cité, Assistance Publique – Hôpitaux de Paris, Istanbul University-Cerrahpaşa, Centre d’Immunologie de Marseille-Luminy, Hôpital Saint-Louis, Hôpital Jean-Verdier, Human Genetic of Infectious Diseases, Institut des Maladies Génétiques Imagine, Hôpital Tenon, Université Paris Diderot, HIPI - Immunologie humaine, physiopathologie et immunithérapie, Université Paris Descartes, Istanbul University
ORCID: 0000-0002-6002-0981
Observed ORCID: 0000-0002-6002-0981
OpenAlex ID: A5036864831
TLR3 Deficiency in Patients with Herpes Simplex Encephalitis
2007 · Shen-Ying Zhang, Emmanuelle Jouanguy, et al. · Science · 1,208
Interleukin-36–Receptor Antagonist Deficiency and Generalized Pustular Psoriasis
2011 · Slaheddine Marrakchi, Philippe Guigue, et al. · New England Journal of Medicine · 1,011
PDF
X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-κB signaling
2001 · Rainer Döffinger, Asma Smahi, et al. · Nature Genetics · 842
Genomic rearrangement in NEMO impairs NF-κB activation and is a cause of incontinentia pigmenti
2000 · Asmae Smahi, P. Vabres, et al. · Nature · 747
Claudin-1 gene mutations in neonatal sclerosing cholangitis associated with ichthyosis: A tight junction disease
2004 · Smail Hadj-Rabia, Lekbir Baala, et al. · Gastroenterology · 435
PDF
A hypermorphic IκBα mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency
2003 · Gilles Courtois, Asma Smahi, et al. · Journal of Clinical Investigation · 390
Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases
2010 · Céline Cluzeau, Smail Hadj-Rabia, et al. · Human Mutation · 322
PDF
The NF-kappaB signalling pathway in human diseases: from incontinentia pigmenti to ectodermal dysplasias and immune-deficiency syndromes
2002 · A. Smahi · Human Molecular Genetics · 303
Clinical Study of 40 Cases of Incontinentia Pigmenti
2003 · Smaïl Hadj-Rabia, David Froidevaux, et al. · Archives of Dermatology · 201
AP1S3 Mutations Are Associated with Pustular Psoriasis and Impaired Toll-like Receptor 3 Trafficking
2014 · Niovi Setta-Kaffetzi, Michael A. Simpson, et al. · The American Journal of Human Genetics · 192
PDF
Inherited disorders of NF-κB-mediated immunity in man
2003 · Anne Puel, Capucine Picard, et al. · Current Opinion in Immunology · 187
Osteopetrosis, Lymphedema, Anhidrotic Ectodermal Dysplasia, and Immunodeficiency in a Boy and Incontinentia Pigmenti in His Mother
2002 · Sophie Dupuis-Girod, Nadège Corradini, et al. · PEDIATRICS · 146
A new mutation in exon 7 of NEMO gene: late skewed X-chromosome inactivation in an incontinentia pigmenti female patient with immunodeficiency
2005 · Natalia Martinez-Pomar, Ivan Munoz-Saa, et al. · Human Genetics · 130
Successful Treatment of Generalized Pustular Psoriasis With the Interleukin-1-Receptor Antagonist Anakinra: Lack of Correlation With IL1RN Mutations
2010 · Manuelle Viguier, Philippe Guigue, et al. · Annals of Internal Medicine · 116
The NEMO Mutation Creating the Most-Upstream Premature Stop Codon Is Hypomorphic Because of a Reinitiation of Translation
2006 · Anne Puel, Janine Reichenbach, et al. · The American Journal of Human Genetics · 116
Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations
2008 · Francesca Fusco, Alessandra Pescatore, et al. · Human Mutation · 113
PDF
First Clinical Description of an Infant With Interleukin-36-Receptor Antagonist Deficiency Successfully Treated With Anakinra
2013 · Linda Rossi-Semerano, Maryam Piram, et al. · PEDIATRICS · 111
TAB2, TRAF6 and TAK1 are involved in NF-κB activation induced by the TNF-receptor, Edar and its adaptator Edaradd
2005 · Aurore Morlon, Arnold Munnich, et al. · Human Molecular Genetics · 110
Genetic characterization of congenital tufting enteropathy: epcam associated phenotype and involvement of SPINT2 in the syndromic form
2013 · Julie Salomon, Olivier Goulet, et al. · Human Genetics · 107
IL36RN Mutations Affect Protein Expression and Function: A Basis for Genotype-Phenotype Correlation in Pustular Diseases
2016 · Marie Tauber, Elodie Bal, et al. · Journal of Investigative Dermatology · 106
Autosomal dominant anhidrotic ectodermal dysplasias at the EDARADD locus
2007 · E. Bal, L. Baala, et al. · Human Mutation · 102
Combination of Linkage Mapping and Microarray-Expression Analysis Identifies NF-κB Signaling Defect as a Cause of Autosomal-Recessive Mental Retardation
2009 · Orianne Philippe, Marlène Rio, et al. · The American Journal of Human Genetics · 98
PDF
NF-κB-related genetic diseases
2006 · G Courtois, A Smahi · Cell Death and Differentiation · 89
Insight intoIKBKG/NEMOLocus: Report of New Mutations and Complex Genomic Rearrangements Leading to Incontinentia Pigmenti Disease
2013 · Matilde Immacolata Conte, Alessandra Pescatore, et al. · Human Mutation · 88
PDF
A Gene for X-Linked Idiopathic Congenital Nystagmus (NYS1) Maps to Chromosome Xp11.4-p11.3
1999 · Annick Cabot, Jean-Michel Rozet, et al. · The American Journal of Human Genetics · 85
Works count: 104
Citation count: 8,593
H-index: 39
I10-index: 54
Year
Topic
Type