U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from Books

Items: 12

1.
Variation among DNA banking consent forms: points for clinicians to bank on
Samuel J. Huang, Laura M. Amendola, Darci L. Sternen
J Community Genet. 2022 Aug; 13(4): 389–397. Published online 2022 Jul 14. doi: 10.1007/s12687-022-00601-3
PMCID:
PMC9314484
AbstractArticlePDF–776K
2.
Pulmonary hypertension and vasculopathy in incontinentia pigmenti: a case report
Abduljabbar Alshenqiti, Marwan Nashabat, Hissah AlGhoraibi, Omar Tamimi, Majid Alfadhel
Ther Clin Risk Manag. 2017; 13: 629–634. Published online 2017 May 9. doi: 10.2147/TCRM.S134705
PMCID:
PMC5431708
AbstractArticlePDF–2.1M
3.
Recruitment of A20 by the C-terminal domain of NEMO suppresses NF-κB activation and autoinflammatory disease
Jevgenia Zilberman-Rudenko, Linda Monaco Shawver, Alex W. Wessel, Yongquan Luo, Martin Pelletier, Wanxia Li Tsai, Younglang Lee, Spiridon Vonortas, Laurence Cheng, Jonathan D. Ashwell, Jordan S. Orange, Richard M. Siegel, Eric P. Hanson
Proc Natl Acad Sci U S A. 2016 Feb 9; 113(6): 1612–1617. Published online 2016 Jan 22. doi: 10.1073/pnas.1518163113
PMCID:
PMC4760784
AbstractArticlePDF–1.0M
4.
Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W. Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector, Karl Voelkerding, Heidi L. Rehm
Genet Med. Author manuscript; available in PMC 2015 Nov 1.
Published in final edited form as: Genet Med. 2015 May; 17(5): 405–424. Published online 2015 Mar 5. doi: 10.1038/gim.2015.30
PMCID:
PMC4544753
AbstractArticlePDF–960K
5.
Incontinentia pigmenti: report on data from 2000 to 2013
Francesca Fusco, Mariateresa Paciolla, Matilde Immacolata Conte, Alessandra Pescatore, Elio Esposito, Peppino Mirabelli, Maria Brigida Lioi, Matilde Valeria Ursini
Orphanet J Rare Dis. 2014; 9: 93. Published online 2014 Jun 24. doi: 10.1186/1750-1172-9-93
PMCID:
PMC4083330
AbstractArticlePDF–336K
6.
Incontinentia Pigmenti: Learning Disabilities Are a Fundamental Hallmark of the Disease
Maria Rosa Pizzamiglio, Laura Piccardi, Filippo Bianchini, Loredana Canzano, Liana Palermo, Francesca Fusco, Giovanni D'Antuono, Chiara Gelmini, Livia Garavelli, Matilde Valeria Ursini
PLoS One. 2014; 9(1): e87771. Published online 2014 Jan 29. doi: 10.1371/journal.pone.0087771
PMCID:
PMC3906222
AbstractArticlePDF–159K
7.
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)
Jonathan Zonana, Melissa E. Elder, Lynda C. Schneider, Seth J. Orlow, Celia Moss, Mahin Golabi, Stuart K. Shapira, Peter A. Farndon, Diane W. Wara, Stephanie A. Emmal, Betsy M. Ferguson
Am J Hum Genet. 2000 Dec; 67(6): 1555–1562. Published online 2000 Oct 24. doi: 10.1086/316914
PMCID:
PMC1287930
AbstractArticlePDF–651K
8.
Atypical Forms of Incontinentia Pigmenti in Male Individuals Result from Mutations of a Cytosine Tract in Exon 10 of NEMO (IKK-γ)
Swaroop Aradhya, Gilles Courtois, Aleks Rajkovic, Richard Alan Lewis, Moise Levy, Alain Israël, David L. Nelson
Am J Hum Genet. 2001 Mar; 68(3): 765–771. Published online 2001 Feb 8. doi: 10.1086/318806
PMCID:
PMC1274488
AbstractArticlePDF–1019K
9.
Survival of Male Patients with Incontinentia Pigmenti Carrying a Lethal Mutation Can Be Explained by Somatic Mosaicism or Klinefelter Syndrome
The International IP Consortium
Am J Hum Genet. 2001 Dec; 69(6): 1210–1217. Published online 2001 Oct 22. doi: 10.1086/324591
PMCID:
PMC1235532
AbstractArticlePDF–356K
10.
Unstable mutation in incontinentia pigmenti?
E Hatchwell
J Med Genet. 1996 Apr; 33(4): 349–350. doi: 10.1136/jmg.33.4.349-a
PMCID:
PMC1050592
SummaryPage BrowsePDF–579K
11.
Severe liver degeneration and lack of NF-κB activation in NEMO/IKKγ-deficient mice
Dorothea Rudolph, Wen-Chen Yeh, Andrew Wakeham, Bettina Rudolph, Dhani Nallainathan, Julia Potter, Andrew J. Elia, Tak W. Mak
Genes Dev. 2000 Apr 1; 14(7): 854–862.
PMCID:
PMC316493
AbstractArticlePDF–3.0M
12.
Identification of a cell protein (FIP-3) as a modulator of NF-κB activity and as a target of an adenovirus inhibitor of tumor necrosis factor α-induced apoptosis
Yongan Li, Jian Kang, Joshua Friedman, Leonid Tarassishin, Jianjiang Ye, Andrei Kovalenko, David Wallach, Marshall S. Horwitz
Proc Natl Acad Sci U S A. 1999 Feb 2; 96(3): 1042–1047. doi: 10.1073/pnas.96.3.1042
PMCID:
PMC15347
AbstractArticlePDF–171K

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Filter your results:

Find related data

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
You are here: NCBI > Literature > PubMed Central (PMC)
Support Center