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Serveur d'exploration sur le lymphœdème - Analysis (France)

Index « Auteurs » - entrée « Asma Smahi »
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Ashwini Patil < Asma Smahi < Astrid Imiela  Facettes :

List of bibliographic references

Number of relevant bibliographic references: 9.
Ident.Authors (with country if any)Title
000435 (2008) Francesca Fusco [Italie] ; Alessandra Pescatore [Italie] ; Elodie Bal [France] ; Aida Ghoul [France] ; Mariateresa Paciolla [Italie] ; Maria Brigida Lioi [Italie] ; Michele D'Urso [Italie] ; Smail Hadj Rabia [France] ; Christine Bodemer [France] ; Jean Paul Bonnefont [France] ; Arnold Munnich [France] ; Maria Giuseppina Miano [Italie] ; Asma Smahi [France] ; Matilde Valeria Ursini [Italie]Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations
000494 (2006) Anne Puel ; Janine Reichenbach ; Jacinta Bustamante ; Cheng-Lung Ku ; Jacqueline Feinberg ; Rainer Döffinger ; Marion Bonnet ; Orchidée Filipe-Santos ; Ludovic De Beaucoudrey ; Anne Durandy ; Gerd Horneff ; Francesco Novelli ; Volker Wahn ; Asma Smahi ; Alain Israel [France] ; Tim Niehues [Allemagne] ; Jean-Laurent CasanovaThe NEMO Mutation Creating the Most-Upstream Premature Stop Codon Is Hypomorphic Because of a Reinitiation of Translation
000503 (2006) Karen Helene Rstavik [Norvège] ; Marianne Kristiansen [Norvège] ; Gun Peggy Knudsen [Norvège] ; Kari Storhaug [Norvège] ; Shild Vege [Norvège] ; Kristin Eiklid [Norvège] ; Tore G. Abrahamsen [Norvège] ; Asma Smahi [France] ; Jon Steen-Johnsen [Norvège]Novel splicing mutation in the NEMO (IKK‐gamma) gene with severe immunodeficiency and heterogeneity of X‐chromosome inactivation
000535 (2005) Aurore Morlon [France] ; Arnold Munnich [France] ; Asma Smahi [France]TAB2, TRAF6 and TAK1 are involved in NF-κB activation induced by the TNF-receptor, Edar and its adaptator Edaradd
000618 (2003) Gilles Courtois ; Asma Smahi ; Janine Reichenbach [France] ; Rainer Döffinger [France] ; Caterina Cancrini [Italie] ; Marion Bonnet [France] ; Anne Puel [France] ; Christine Chable-Bessia ; Shoji Yamaoka [Japon] ; Jacqueline Feinberg [France] ; Sophie Dupuis-Girod [France] ; Christine Bodemer ; Susanna Livadiotti [Italie] ; Francesco Novelli [France] ; Paolo Rossi [Italie] ; Alain Fischer [France] ; Alain Israël ; Arnold Munnich ; Françoise Le Deist ; Jean-Laurent Casanova [France]A hypermorphic IκBα mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency
000649 (2002) Asma Smahi [France] ; Gilles Courtois ; Smail Hadj Rabia ; Rainer Döffinger ; Christine Bodemer ; Arnold Munnich ; Jean-Laurent Casanova ; Alain IsraëlThe NF-kappaB signalling pathway in human diseases: from incontinentia pigmenti to ectodermal dysplasias and immune-deficiency syndromes.
000650 (2002) Sophie Dupuis-Girod [France] ; Nadège Corradini ; Smail Hadj-Rabia ; Jean-Christophe Fournet ; Laurence Faivre ; Françoise Le Deist ; Philippe Durand ; Rainer Döffinger ; Asma Smahi ; Alain Israel ; Gilles Courtois ; Nicole Brousse ; Stéphane Blanche ; Arnold Munnich ; Alain Fischer ; Jean-Laurent Casanova ; Christine BodemerOsteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency in a boy and incontinentia pigmenti in his mother.
000655 (2002) Asma Smahi ; Gilles Courtois ; Smail Hadj Rabia ; Rainer Do Ffinger [France] ; Christine Bodemer ; Arnold Munnich ; Jean-Laurent Casanova [France] ; Alain Israe LThe NF-κB signalling pathway in human diseases: from incontinentia pigmenti to ectodermal dysplasias and immune-deficiency syndromes
000718 (2001) Gilles Courtois [France] ; Asma Smahi [France] ; Alain Israël [France]NEMO/IKKγ: linking NF-κB to human disease

List of associated KwdEn.i

Nombre de
documents		Descripteur
2Humans
1Abnormalities, Multiple (diagnosis)
1Abnormalities, Multiple (genetics)
1Adult
1Age Factors
1Animals
1Codon, Terminator (genetics)
1Disease Models, Animal
1Ectodermal Dysplasia (diagnosis)
1Ectodermal Dysplasia (genetics)
1Ectodermal Dysplasia (metabolism)
1I-kappa B Kinase
1IKKgamma
1Immunologic Deficiency Syndromes (diagnosis)
1Immunologic Deficiency Syndromes (genetics)
1Immunologic Deficiency Syndromes (metabolism)
1Incontinentia Pigmenti (diagnosis)
1Incontinentia Pigmenti (genetics)
1Incontinentia Pigmenti (metabolism)
1Infant
1Infant, Newborn
1Lymphedema (diagnosis)
1Lymphedema (genetics)
1Male
1Molecular Medicine
1Mutation (genetics)
1NEMO
1NF-kappa B (genetics)
1NF-kappa B (metabolism)
1NK-kappaB
1Osteopetrosis (diagnosis)
1Osteopetrosis (genetics)
1Protein-Serine-Threonine Kinases (genetics)
1Sex Factors
1Signal Transduction
1Syndrome
1anhidrotic ectodermal dysplasia
1incontinenita pigmenti

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