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Items: 20

1.

Mutations in zebrafish lrp2 result in adult-onset ocular pathogenesis that models myopia and other risk factors for glaucoma.

Veth KN, Willer JR, Collery RF, Gray MP, Willer GB, Wagner DS, Mullins MC, Udvadia AJ, Smith RS, John SW, Gregg RG, Link BA.

PLoS Genet. 2011 Feb;7(2):e1001310. doi: 10.1371/journal.pgen.1001310. Epub 2011 Feb 17.

2.

Focal segmental glomerulosclerosis in a female patient with Donnai-Barrow syndrome.

Shaheen IS, Finlay E, Prescott K, Russell M, Longoni M, Joss S.

Clin Dysmorphol. 2010 Jan;19(1):35-7. doi: 10.1097/MCD.0b013e328333c20a. No abstract available.

PMID:
19952924
3.

A review of Donnai-Barrow and facio-oculo-acoustico-renal (DB/FOAR) syndrome: clinical features and differential diagnosis.

Pober BR, Longoni M, Noonan KM.

Birth Defects Res A Clin Mol Teratol. 2009 Jan;85(1):76-81. doi: 10.1002/bdra.20534. Review.

4.

Donnai-Barrow syndrome (DBS/FOAR) in a child with a homozygous LRP2 mutation due to complete chromosome 2 paternal isodisomy.

Kantarci S, Ragge NK, Thomas NS, Robinson DO, Noonan KM, Russell MK, Donnai D, Raymond FL, Walsh CA, Donahoe PK, Pober BR.

Am J Med Genet A. 2008 Jul 15;146A(14):1842-7. doi: 10.1002/ajmg.a.32381.

5.

Megalin is a receptor for albumin in astrocytes and is required for the synthesis of the neurotrophic factor oleic acid.

Bento-Abreu A, Velasco A, Polo-Hernández E, Pérez-Reyes PL, Tabernero A, Medina JM.

J Neurochem. 2008 Aug;106(3):1149-59. doi: 10.1111/j.1471-4159.2008.05462.x. Epub 2008 May 5.

7.

Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes.

Kantarci S, Al-Gazali L, Hill RS, Donnai D, Black GC, Bieth E, Chassaing N, Lacombe D, Devriendt K, Teebi A, Loscertales M, Robson C, Liu T, MacLaughlin DT, Noonan KM, Russell MK, Walsh CA, Donahoe PK, Pober BR.

Nat Genet. 2007 Aug;39(8):957-9. Epub 2007 Jul 15.

8.

Ocular manifestations of Donnai-Barrow syndrome.

Patel N, Hejkal T, Katz A, Margalit E.

J Child Neurol. 2007 Apr;22(4):462-4.

PMID:
17621530
9.

Congenital diaphragmatic hernia (CDH) etiology as revealed by pathway genetics.

Kantarci S, Donahoe PK.

Am J Med Genet C Semin Med Genet. 2007 May 15;145C(2):217-26. Review.

PMID:
17436295
10.

The role of megalin (LRP-2/Gp330) during development.

Fisher CE, Howie SE.

Dev Biol. 2006 Aug 15;296(2):279-97. Epub 2006 Jun 8. Review.

11.

Elucidation of megalin/LRP2-dependent endocytic transport processes in the larval zebrafish pronephros.

Anzenberger U, Bit-Avragim N, Rohr S, Rudolph F, Dehmel B, Willnow TE, Abdelilah-Seyfried S.

J Cell Sci. 2006 May 15;119(Pt 10):2127-37. Epub 2006 Apr 25.

12.

Donnai-Barrow syndrome: four additional patients.

Chassaing N, Lacombe D, Carles D, Calvas P, Saura R, Bieth E.

Am J Med Genet A. 2003 Sep 1;121A(3):258-62. Review.

PMID:
12923867
13.
14.

Megalin knockout mice as an animal model of low molecular weight proteinuria.

Leheste JR, Rolinski B, Vorum H, Hilpert J, Nykjaer A, Jacobsen C, Aucouturier P, Moskaug JO, Otto A, Christensen EI, Willnow TE.

Am J Pathol. 1999 Oct;155(4):1361-70.

16.

Facio-oculo-acoustico-renal (FOAR) syndrome: case report and review.

Schowalter DB, Pagon RA, Kalina RE, McDonald R.

Am J Med Genet. 1997 Mar 3;69(1):45-9; discussion 44. Review.

PMID:
9066882
17.

Defective forebrain development in mice lacking gp330/megalin.

Willnow TE, Hilpert J, Armstrong SA, Rohlmann A, Hammer RE, Burns DK, Herz J.

Proc Natl Acad Sci U S A. 1996 Aug 6;93(16):8460-4.

18.

Cloning and sequencing of human gp330, a Ca(2+)-binding receptor with potential intracellular signaling properties.

Hjälm G, Murray E, Crumley G, Harazim W, Lundgren S, Onyango I, Ek B, Larsson M, Juhlin C, Hellman P, Davis H, Akerström G, Rask L, Morse B.

Eur J Biochem. 1996 Jul 1;239(1):132-7.

20.

Syndrome of ocular and facial anomalies, telecanthus, and deafness.

Holmes LB, Schepens CL.

J Pediatr. 1972 Sep;81(3):552-5. No abstract available.

PMID:
4626128
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