Asmae Smahi: search on Z-Library

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1

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

Julie Steffann, Valérie Raclin, Asmae Smahi, Hayley Woffendin, Arnold Munnich, Sue J. Kenwrick, Anne-Gaelle Grebille, Alexandra Benachi, Yves Dumez, Jean-Paul Bonnefont, Smaïl Hadj-Rabia

Journal:

Prenatal Diagnosis

Year:

2004

Language:

english

File:

PDF, 123 KB

english, 2004

2

Claudin-1 gene mutations in neonatal sclerosing cholangitis associated with ichthyosis: A tight junction disease

Smail Hadj-Rabia, Lekbir Baala, Pierre Vabres, Dominique Hamel-Teillac, Emmanuel Jacquemin, Monique Fabre, Stanislas Lyonnet, Yves de Prost, Arnold Munnich, Michelle Hadchouel, Asma Smahi

Journal:

Gastroenterology

Year:

2004

Language:

english

File:

PDF, 271 KB

english, 2004

3

De nouveaux gènes candidates pour les dysplasies ectodermiques anhidrotiques : TAB2 , TRAF6 et TAK1

Morlon, Aurore, Smahi, Asma, Munnich, Arnold

Journal:

médecine/sciences

Year:

2006

File:

PDF, 103 KB

2006

4

10.1038/35013114

Kenwrick, S. J., The International Incontinentia Pigmenti (IP) Consortium,, France,, Smahi, Asmae, Courtois, G., Vabres, P., Yamaoka, S., Heuertz, S., Munnich, A., Israël, A., Germany,, Heiss, Nina

Journal:

Year:

2000

Language:

english

File:

PDF, 403 KB

english, 2000

5

Crosstalk between NF-kappaB and Wnt/beta-catenin pathways involved in skin appendages development

Celine Cluzeau, Chunyan Mou, Sylvie Fraitag, Christine Bodemer, Arnold Munnich, Gilles Courtois, Heather Etchevers, Denis J. Headon, Asma Smahi

Journal:

Developmental Biology

Year:

2009

Language:

english

File:

PDF, 54 KB

english, 2009

6

10.1038/35013122

Kenwrick, S. J., The International Incontinentia Pigmenti (IP) Consortium,, France,, Smahi, Asmae, Courtois, G., Vabres, P., Yamaoka, S., Heuertz, S., Munnich, A., Israël, A., Germany,, Heiss, Nina

Journal:

Year:

2000

Language:

english

File:

PDF, 239 KB

english, 2000

7

Unusual presentation of a severe autosomal recessive anhydrotic ectodermal dysplasia with a novel mutation in the EDAR gene

Hala Mégarbané, Céline Cluzeau, Christine Bodemer, Sylvie Fraïtag, Myrna Chababi-Atallah, André Mégarbané, Asma Smahi

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 179 KB

english, 2008

8

Turkish Ectodermal Dysplasia Cohort: From Phenotype to Genotype in 17 Families

Güven, Yeliz, Bal, Elodie, Altunoglu, Umut, Yücel, Esra, Hadj-Rabia, Smail, Koruyucu, Mine, Bahar Tuna, Elif, Çıldır, Şule, Aktören, Oya, Bodemer, Christine, Uyguner, Zehra O., Smahi, Asma, Kayserili,

Journal:

Cytogenetic and Genome Research

Year:

2019

File:

PDF, 924 KB

2019

9

10.1038/35013127

Kenwrick, S. J., The International Incontinentia Pigmenti (IP) Consortium,, France,, Smahi, Asmae, Courtois, G., Vabres, P., Yamaoka, S., Heuertz, S., Munnich, A., Israël, A., Germany,, Heiss, Nina

Journal:

Year:

2000

Language:

english

File:

PDF, 180 KB

english, 2000

10

Super-resolution microscopy reveals a preformed NEMO lattice structure that is collapsed in incontinentia pigmenti

Scholefield, Janine, Henriques, Ricardo, Savulescu, Anca F., Fontan, Elisabeth, Boucharlat, Alix, Laplantine, Emmanuel, Smahi, Asma, Israël, Alain, Agou, Fabrice, Mhlanga, Musa M.

Journal:

Nature Communications

Year:

2016

Language:

english

File:

PDF, 3.61 MB

english, 2016

11

A novel missense mutation in the gene EDARADD associated with an unusual phenotype of hypohidrotic ectodermal dysplasia

Wohlfart, Sigrun, Söder, Stephan, Smahi, Asma, Schneider, Holm

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 486 KB

english, 2016

12

A new mutation in exon 7 ofNEMOgene: late skewed X-chromosome inactivation in an incontinentia pigmenti female patient with immunodeficiency

Natalia Martinez-Pomar, Ivan Munoz-Saa, Damian Heine-Suner, Ana Martin, Asma Smahi, Nuria Matamoros

Journal:

Year:

2005

Language:

english

File:

PDF, 357 KB

english, 2005

13

Combination of Linkage Mapping and Microarray-Expression Analysis Identifies NF-κB Signaling Defect as a Cause of Autosomal-Recessive Mental Retardation

Orianne Philippe, Marlène Rio, Astrid Carioux, Jean-Marc Plaza, Philippe Guigue, Florence Molinari, Nathalie Boddaert, Christine Bole-Feysot, Patrick Nitschke, Asma Smahi, Arnold Munnich, Laurence Col

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 483 KB

english, 2009

14

NEMO/IKKγ: linking NF-κB to human disease

Gilles Courtois, Asma Smahi, Alain Israël

Journal:

Trends in Molecular Medicine

Year:

2001

Language:

english

File:

PDF, 88 KB

english, 2001

15

Filamin (FLN1), plexin (SEX), major palmitoylated protein p55 (MPP1), and von-Hippel Lindau binding protein (VBP1) are not involved in incontinentia pigmenti type 2

Swaroop Aradhya, Pallavi Ahobila, Richard Alan Lewis, David L. Nelson, Teresa Esposito, Alfredo Ciccodicola, Tiziana Bardaro, Michele D'Urso, Hayley Woffendin, Susan Kenwrick, Asmae Smahi, Solange Heu

Journal:

American Journal of Medical Genetics Part A

Year:

2000

Language:

english

File:

PDF, 406 KB

english, 2000

16

Novel splicing mutation in the NEMO (IKK-gamma) gene with severe immunodeficiency and heterogeneity of X-chromosome inactivation

Karen Helene Ørstavik, Marianne Kristiansen, Gun Peggy Knudsen, Kari Storhaug, Åshild Vege, Kristin Eiklid, Tore G Abrahamsen, Asma Smahi, Jon Steen-Johnsen

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 348 KB

english, 2006

17

Turkish Ectodermal Dysplasia Cohort: From Phenotype to Genotype in 17 Families

Güven, Yeliz, Bal, Elodie, Altunoglu, Umut, Yücel, Esra, Hadj-Rabia, Smail, Koruyucu, Mine, Bahar Tuna, Elif, Çıldır, Şule, Aktören, Oya, Bodemer, Christine, Uyguner, Zehra O., Smahi, Asma, Kayserili,

Journal:

Cytogenetic and Genome Research

Year:

2019

Language:

english

File:

PDF, 924 KB

english, 2019

18

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

Smaïl Hadj-Rabia, Aude Rimella, Asma Smahi, Sylvie Fraitag, Dominique Hamel-Teillac, Jean-Paul Bonnefont, Yves de Prost, Christine Bodemer

Journal:

Journal of the American Academy of Dermatology

Year:

2011

Language:

english

File:

PDF, 923 KB

english, 2011

19

Human homologue of the murinebare patches/striated gene is not mutated in incontinentia pigmenti type 2

Aradhya, Swaroop, Nelson, David L., Heiss, Nina S., Poustka, Annemarie, Woffendin, Hayley, Kenwrick, Susan, Esposito, Teresa, Ciccodicola, Alfredo, Bardaro, Tiziana, D'Urso, Michele, Smahi, Asmae, Mun

Journal:

American Journal of Medical Genetics

Year:

2000

Language:

english

File:

PDF, 477 KB

english, 2000

20

Clinical Study of 40 Cases of Incontinentia Pigmenti

Hadj-Rabia, Smaïl, Froidevaux, David, Bodak, Nathalie, Hamel-Teillac, Dominique, Smahi, Asma, Touil, Yasmina, Fraitag, Sylvie, de Prost, Yves, Bodemer, Christine

Journal:

Archives of Dermatology

Year:

2003

Language:

english

File:

PDF, 228 KB

english, 2003

21

Severe neuroimaging anomalies are usually associated with random X inactivation in leucocytes circulating DNA in X-linked dominant Incontinentia Pigmenti

Dangouloff-Ros, Volodia, Hadj-Rabia, Smail, Oliveira Santos, Judite, Bal, Elodie, Desguerre, Isabelle, Kossorotoff, Manoelle, An, Isabelle, Smahi, Asma, Bodemer, Christine, Munnich, Arnold, Steffann,

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 1.30 MB

english, 2017

22

Inherited disorders of NF-κB-mediated immunity in man

Anne Puel, Capucine Picard, Cheng-Lung Ku, Asma Smahi, Jean-Laurent Casanova

Journal:

Current Opinion in Immunology

Year:

2004

Language:

english

File:

PDF, 414 KB

english, 2004

23

Genetic mapping of Xp22.12–p22.31, with a refined localization for spondyloepiphyseal dysplasia (SEDL)

Solange Heuertz, Asmae Smahi, Andrew O. M. Wilkie, M. Merrer, P. Maroteaux, Marie-Claude Hors-Cayla

Journal:

Year:

1995

Language:

english

File:

PDF, 378 KB

english, 1995

24

A Gene for X-Linked Idiopathic Congenital Nystagmus (NYS1) Maps to Chromosome Xp11.4-p11.3

Annick Cabot, Jean-Michel Rozet, Sylvie Gerber, Isabelle Perrault, Dominique Ducroq, Asmae Smahi, Eric Souied, Arnold Munnich, Josseline Kaplan

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 641 KB

english, 1999

25

Su2073 A Case Report of a Patient With Tufting Enteropathy and SPINT2 Mutation

Slae, Mordechai, Saginur, Michael, Persad, Rabin, Yap, Jason, Lacson, Atilano, Salomon, Julie C., Smahi, Asma, Goulet, Olivier, Canioni, Danielle, Huynh, Hien Q.

Journal:

Gastroenterology

Year:

2012

Language:

english

File:

PDF, 477 KB

english, 2012

26

10.1038/85837

Döffinger, Rainer, Smahi, Asma, Bessia, Christine, Geissmann, Frédéric, Feinberg, Jacqueline, Durandy, Anne, Bodemer, Christine, Kenwrick, Sue, Dupuis-Girod, Sophie, Blanche, Stéphane, Wood, Philip, R

Journal:

Nature Genetics

Year:

2001

Language:

english

File:

PDF, 600 KB

english, 2001

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