PMC Links for OMIM (Select 611966) - PMC

Select item 37074861.

NIBP, a Novel NIK and IKKβ-binding Protein That Enhances NF-κB Activation

Wen-Hui Hu, Julie S. Pendergast, Xian-Ming Mo, Roberta Brambilla, Valerie Bracchi-Ricard, Fang Li, Winston M. Walters, Bas Blits, Li He, Sandra M. Schaal, John R. Bethea

J Biol Chem. Author manuscript; available in PMC 2013 Jul 10.

Published in final edited form as: J Biol Chem. 2005 Aug 12; 280(32): 29233–29241. Published online 2005 Jun 10. doi: 10.1074/jbc.M501670200

PMCID:: PMC3707486

Abstract Article PDF–712K

Select item 35482582.

Giuseppe Marangi, Vincenzo Leuzzi, Filippo Manti, Serena Lattante, Daniela Orteschi, Vanna Pecile, Giovanni Neri, Marcella Zollino

Eur J Hum Genet. 2013 Feb; 21(2): 229–232. Published online 2012 May 2. doi: 10.1038/ejhg.2012.79

PMCID:: PMC3548258

Abstract Article PDF–869K

Select item 31981533.

Homozygosity mapping in 64 Syrian consanguineous families with non-specific intellectual disability reveals 11 novel loci and high heterogeneity

R Abou Jamra, Sigrun Wohlfart, Markus Zweier, Steffen Uebe, Lutz Priebe, Arif Ekici, Susanne Giesebrecht, Ahmad Abboud, Mohammed Ayman Al Khateeb, Mahmoud Fakher, Saber Hamdan, Amina Ismael, Safia Muhammad, Markus M Nöthen, Johannes Schumacher, André Reis

Eur J Hum Genet. 2011 Nov; 19(11): 1161–1166. Published online 2011 Jun 1. doi: 10.1038/ejhg.2011.98

PMCID:: PMC3198153

Abstract Article PDF–414K

Select item 27958004.

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 Colleaux

Am J Hum Genet. 2009 Dec 11; 85(6): 903–908. doi: 10.1016/j.ajhg.2009.11.007

PMCID:: PMC2795800

Abstract Article PDF–483K

Select item 27905765.

A Truncating Mutation of TRAPPC9 Is Associated with Autosomal-Recessive Intellectual Disability and Postnatal Microcephaly

Ganeshwaran H. Mochida, Muhammad Mahajnah, Anthony D. Hill, Lina Basel-Vanagaite, Danielle Gleason, R. Sean Hill, Adria Bodell, Moira Crosier, Rachel Straussberg, Christopher A. Walsh

Am J Hum Genet. 2009 Dec 11; 85(6): 897–902. doi: 10.1016/j.ajhg.2009.10.027

PMCID:: PMC2790576

Abstract Article PDF–1.0M

Select item 27905716.

Identification of Mutations in TRAPPC9, which Encodes the NIK- and IKK-β-Binding Protein, in Nonsyndromic Autosomal-Recessive Mental Retardation

Asif Mir, Liana Kaufman, Abdul Noor, Mahdi M. Motazacker, Talal Jamil, Matloob Azam, Kimia Kahrizi, Muhammad Arshad Rafiq, Rosanna Weksberg, Tanveer Nasr, Farooq Naeem, Andreas Tzschach, Andreas W. Kuss, Gisele E. Ishak, Dan Doherty, H. Hilger Ropers, A. James Barkovich, Hossein Najmabadi, Muhammad Ayub, John B. Vincent

Am J Hum Genet. 2009 Dec 11; 85(6): 909–915. doi: 10.1016/j.ajhg.2009.11.009

PMCID:: PMC2790571

Abstract Article PDF–650K

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