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Results: 1 to 20 of 37

1.

The neurology of rhizomelic chondrodysplasia punctata.

Bams-Mengerink AM, Koelman JH, Waterham H, Barth PG, Poll-The BT.

Orphanet J Rare Dis. 2013 Oct 30;8:174. doi: 10.1186/1750-1172-8-174.

PMID:
24172221
[PubMed - indexed for MEDLINE]
Free Article
2.

Rhizomelic chondrodysplasia punctata with maternal systemic lupus erythromatosus.

Roy A, De P, Chakraborty S.

Indian Pediatr. 2013 Jun 8;50(6):605-7.

PMID:
23942406
[PubMed - indexed for MEDLINE]
Free Article
3.

Peroxisome biogenesis disorders: Biological, clinical and pathophysiological perspectives.

Braverman NE, D'Agostino MD, Maclean GE.

Dev Disabil Res Rev. 2013 Jun;17(3):187-96. doi: 10.1002/ddrr.1113. Review.

PMID:
23798008
[PubMed - indexed for MEDLINE]
4.

Peroxisomal disorders.

Aubourg P, Wanders R.

Handb Clin Neurol. 2013;113:1593-609. doi: 10.1016/B978-0-444-59565-2.00028-9. Review.

PMID:
23622381
[PubMed - indexed for MEDLINE]
5.

Rhizomelic chondrodysplasia punctata and cardiac pathology.

Huffnagel IC, Clur SA, Bams-Mengerink AM, Blom NA, Wanders RJ, Waterham HR, Poll-The BT.

J Med Genet. 2013 Jul;50(7):419-24. doi: 10.1136/jmedgenet-2013-101536. Epub 2013 Apr 9.

PMID:
23572185
[PubMed - indexed for MEDLINE]
6.

C86Y: as a destructive homozygous mutation deteriorating Pex7p function causing rhizomelic chondrodysplasia punctata type I.

Salamian A, Mohamadynejad P, Ghaedi K, Nejati AS, Shafeghati Y, Ahnak MB, Nematollahi M, Karbalaie K, Hadipour F, Baharvand H, Nasr-Esfahani MH.

Ann Clin Lab Sci. 2013 Winter;43(1):76-80.

PMID:
23462609
[PubMed - indexed for MEDLINE]
7.

Severe rhizomelic chondrodysplasia punctata in a fetus due to maternal mixed connective tissue disorder.

Nayak SS, Adiga PK, Rai L, Girisha KM.

Genet Couns. 2012;23(4):487-91.

PMID:
23431749
[PubMed - indexed for MEDLINE]
8.

Identification of a novel missense mutation of PEX7 gene in an Iranian patient with rhizomelic chondrodysplasia punctata type 1.

Mohamadynejad P, Ghaedi K, Shafeghati Y, Salamian A, Tanhaie S, Karamali F, Rabiee F, Parivar K, Baharvand H, Nasr-Esfahani MH.

Gene. 2013 Apr 15;518(2):461-6. doi: 10.1016/j.gene.2013.01.022. Epub 2013 Jan 26.

PMID:
23357221
[PubMed - indexed for MEDLINE]
9.

Genetics and molecular basis of human peroxisome biogenesis disorders.

Waterham HR, Ebberink MS.

Biochim Biophys Acta. 2012 Sep;1822(9):1430-41. doi: 10.1016/j.bbadis.2012.04.006. Epub 2012 Apr 25. Review.

PMID:
22871920
[PubMed - indexed for MEDLINE]
Free Article
10.

The importance of ether-phospholipids: a view from the perspective of mouse models.

da Silva TF, Sousa VF, Malheiro AR, Brites P.

Biochim Biophys Acta. 2012 Sep;1822(9):1501-8. doi: 10.1016/j.bbadis.2012.05.014. Epub 2012 May 31. Review.

PMID:
22659211
[PubMed - indexed for MEDLINE]
Free Article
11.

Functions of plasmalogen lipids in health and disease.

Braverman NE, Moser AB.

Biochim Biophys Acta. 2012 Sep;1822(9):1442-52. doi: 10.1016/j.bbadis.2012.05.008. Epub 2012 May 22. Review.

PMID:
22627108
[PubMed - indexed for MEDLINE]
Free Article
12.

Clinical diagnosis, biochemical findings and MRI spectrum of peroxisomal disorders.

Poll-The BT, Gärtner J.

Biochim Biophys Acta. 2012 Sep;1822(9):1421-9. doi: 10.1016/j.bbadis.2012.03.011. Epub 2012 Mar 28. Review.

PMID:
22483868
[PubMed - indexed for MEDLINE]
Free Article
13.

Peroxisomal leukoencephalopathy.

Poll-The BT, Engelen M.

Semin Neurol. 2012 Feb;32(1):42-50. doi: 10.1055/s-0032-1306385. Epub 2012 Mar 15. Review.

PMID:
22422205
[PubMed - indexed for MEDLINE]
14.

Impaired neurotransmission in ether lipid-deficient nerve terminals.

Brodde A, Teigler A, Brugger B, Lehmann WD, Wieland F, Berger J, Just WW.

Hum Mol Genet. 2012 Jun 15;21(12):2713-24. doi: 10.1093/hmg/dds097. Epub 2012 Mar 8.

PMID:
22403185
[PubMed - indexed for MEDLINE]
Free Article
15.

Association between peroxisomal biogenesis factor 7 and autism spectrum disorders in a Korean population.

Ro M, Park J, Nam M, Bang HJ, Yang J, Choi KS, Kim SK, Chung JH, Kwack K.

J Child Neurol. 2012 Oct;27(10):1270-5. Epub 2012 Feb 28.

PMID:
22378669
[PubMed - indexed for MEDLINE]
16.

Comparative study of serine-plasmalogens in human retina and optic nerve: identification of atypical species with odd carbon chains.

Nagy K, Brahmbhatt VV, Berdeaux O, Bretillon L, Destaillats F, Acar N.

J Lipid Res. 2012 Apr;53(4):776-83. doi: 10.1194/jlr.D022962. Epub 2012 Jan 19.

PMID:
22266369
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Defective lipid remodeling of GPI anchors in peroxisomal disorders, Zellweger syndrome, and rhizomelic chondrodysplasia punctata.

Kanzawa N, Shimozawa N, Wanders RJ, Ikeda K, Murakami Y, Waterham HR, Mukai S, Fujita M, Maeda Y, Taguchi R, Fujiki Y, Kinoshita T.

J Lipid Res. 2012 Apr;53(4):653-63. doi: 10.1194/jlr.M021204. Epub 2012 Jan 17.

PMID:
22253471
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Rhizomelic chondrodysplasia punctata type 1 and fulminant neonatal respiratory failure, a case report and discussion of pathophysiology.

Oswald G, Lawson C, Raymond G, Golden WC, Braverman N.

Am J Med Genet A. 2011 Dec;155A(12):3160-3. doi: 10.1002/ajmg.a.34331. Epub 2011 Nov 3. No abstract available.

PMID:
22052861
[PubMed - indexed for MEDLINE]
19.

Functional characterization of novel mutations in GNPAT and AGPS, causing rhizomelic chondrodysplasia punctata (RCDP) types 2 and 3.

Itzkovitz B, Jiralerspong S, Nimmo G, Loscalzo M, Horovitz DD, Snowden A, Moser A, Steinberg S, Braverman N.

Hum Mutat. 2012 Jan;33(1):189-97. doi: 10.1002/humu.21623. Epub 2011 Oct 31.

PMID:
21990100
[PubMed - indexed for MEDLINE]
20.

Nonsense suppressor therapies rescue peroxisome lipid metabolism and assembly in cells from patients with specific PEX gene mutations.

Dranchak PK, Di Pietro E, Snowden A, Oesch N, Braverman NE, Steinberg SJ, Hacia JG.

J Cell Biochem. 2011 May;112(5):1250-8. doi: 10.1002/jcb.22979.

PMID:
21465523
[PubMed - indexed for MEDLINE]
Free PMC Article

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