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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
1978 | 1 |
2000 | 1 |
2001 | 2 |
2005 | 1 |
2023 | 0 |
PubMed (OMIM) for id: 375786
5 results
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Page 1
A new mutation in exon 7 of NEMO gene: late skewed X-chromosome inactivation in an incontinentia pigmenti female patient with immunodeficiency.
Hum Genet. 2005 Dec;118(3-4):458-65. doi: 10.1007/s00439-005-0068-y. Epub 2005 Oct 14.
Hum Genet. 2005.
PMID: 16228229
X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling.
Döffinger R, Smahi A, Bessia C, Geissmann F, Feinberg J, Durandy A, Bodemer C, Kenwrick S, Dupuis-Girod S, Blanche S, Wood P, Rabia SH, Headon DJ, Overbeek PA, Le Deist F, Holland SM, Belani K, Kumararatne DS, Fischer A, Shapiro R, Conley ME, Reimund E, Kalhoff H, Abinun M, Munnich A, Israël A, Courtois G, Casanova JL.
Döffinger R, et al.
Nat Genet. 2001 Mar;27(3):277-85. doi: 10.1038/85837.
Nat Genet. 2001.
PMID: 11242109
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Specific missense mutations in NEMO result in hyper-IgM syndrome with hypohydrotic ectodermal dysplasia.
Jain A, Ma CA, Liu S, Brown M, Cohen J, Strober W.
Jain A, et al.
Nat Immunol. 2001 Mar;2(3):223-8. doi: 10.1038/85277.
Nat Immunol. 2001.
PMID: 11224521
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A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO).
Zonana J, Elder ME, Schneider LC, Orlow SJ, Moss C, Golabi M, Shapira SK, Farndon PA, Wara DW, Emmal SA, Ferguson BM.
Zonana J, et al.
Am J Hum Genet. 2000 Dec;67(6):1555-62. doi: 10.1086/316914. Epub 2000 Oct 24.
Am J Hum Genet. 2000.
PMID: 11047757
Free PMC article.
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Transient B cell immaturity with intractable diarrhoea: a possible new immunodeficiency syndrome.
Lie SO, Frøland S, Brandtzaeg P, Vandvik B, Steen-Johnsen J.
Lie SO, et al.
J Inherit Metab Dis. 1978;1(4):137-43. doi: 10.1007/BF01805582.
J Inherit Metab Dis. 1978.
PMID: 117248
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