List of bibliographic references
Number of relevant bibliographic references: 9.
| Ident. | Authors (with country if any) | Title |
|---|
| 000568 (2001) |
S. Mansour [Royaume-Uni] ; H. Woffendin ; S. Mitton ; I. Jeffery ; T. Jakins ; S. Kenwrick ; V A Murday | Incontinentia pigmenti in a surviving male is accompanied by hypohidrotic ectodermal dysplasia and recurrent infection. |
| 000569 (2001) |
R. Döffinger [France] ; A. Smahi ; C. Bessia ; F. Geissmann ; J. Feinberg ; A. Durandy ; C. Bodemer ; S. Kenwrick ; S. Dupuis-Girod ; S. Blanche ; P. Wood ; S H Rabia ; D J Headon ; P A Overbeek ; F. Le Deist ; S M Holland ; K. Belani ; D S Kumararatne ; A. Fischer ; R. Shapiro ; M E Conley ; E. Reimund ; H. Kalhoff ; M. Abinun ; A. Munnich ; A. Israël ; G. Courtois ; J L Casanova | X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling. |
| 000661 (2001) |
S. Aradhya [États-Unis] ; D L Nelson | NF-kappaB signaling and human disease. |
| 000980 (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 Bodemer | Osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency in a boy and incontinentia pigmenti in his mother. |
| 003233 (2009) |
Perdita Permaul [États-Unis] ; Anupama Narla ; Jason L. Hornick ; Sung-Yun Pai | Allogeneic hematopoietic stem cell transplantation for X-linked ectodermal dysplasia and immunodeficiency: case report and review of outcomes. |
| 003B29 (2010) |
Catherine M L. Roberts [Royaume-Uni] ; Janet E. Angus ; Ian H. Leach ; Elizabeth M. Mcdermott ; David A. Walker ; Jane C. Ravenscroft | A novel NEMO gene mutation causing osteopetrosis, lymphoedema, hypohidrotic ectodermal dysplasia and immunodeficiency (OL-HED-ID). |
| 005617 (????) |
Valerie M. Carlberg [États-Unis] ; Sabra M. Lofgren ; Julianne A. Mann ; Jared P. Austin ; Dawn Nolt ; Evan B. Shereck ; Blachy Davila-Saldana ; Jonathan Zonana ; Alfons L. Krol | Hypohidrotic ectodermal dysplasia, osteopetrosis, lymphedema, and immunodeficiency in an infant with multiple opportunistic infections. |
| 006563 (2014) |
Ellyze Van Asbeck [États-Unis] ; Arivudainambi Ramalingam ; Chris Dvorak ; Tian-Jian Chen ; Eva Morava | Duplication at Xq28 involving IKBKG is associated with progressive macrocephaly, recurrent infections, ectodermal dysplasia, benign tumors, and neuropathy. |
| 007F69 (2015) |
G. Morcaldi ; T. Bellini ; C. Rossi ; M. Maghnie ; F. Boccardo ; E. Bonioli ; C. Bellini | LYMPHODYSPLASIA AND KRAS MUTATION: A CASE REPORT AND LITERATURE REVIEW. |
Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/LymphedemaV1/Data/Ncbi/Curation
HfdIndexSelect -h $EXPLOR_AREA/Data/Ncbi/Curation/KwdEn.i -k "Ectodermal Dysplasia (genetics)"
HfdIndexSelect -h $EXPLOR_AREA/Data/Ncbi/Curation/KwdEn.i \
-Sk "Ectodermal Dysplasia (genetics)" \
| HfdSelect -Kh $EXPLOR_AREA/Data/Ncbi/Curation/biblio.hfd
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Sante
|area= LymphedemaV1
|flux= Ncbi
|étape= Curation
|type= indexItem
|index= KwdEn.i
|clé= Ectodermal Dysplasia (genetics)
}}
| This area was generated with Dilib version V0.6.31.
Data generation: Sat Nov 4 17:40:35 2017. Site generation: Tue Feb 13 16:42:16 2024 |  |
