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Items: 1 to 20 of 117

1.

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.

PMID:
21990100
2.

Mild reduction of plasmalogens causes rhizomelic chondrodysplasia punctata: functional characterization of a novel mutation.

Noguchi M, Honsho M, Abe Y, Toyama R, Niwa H, Sato Y, Ghaedi K, Rahmanifar A, Shafeghati Y, Fujiki Y.

J Hum Genet. 2014 Jul;59(7):387-92. doi: 10.1038/jhg.2014.39. Erratum in: J Hum Genet. 2014 Jul;59(7):417.

PMID:
24849933
3.

A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform.

Barøy T, Koster J, Strømme P, Ebberink MS, Misceo D, Ferdinandusse S, Holmgren A, Hughes T, Merckoll E, Westvik J, Woldseth B, Walter J, Wood N, Tvedt B, Stadskleiv K, Wanders RJ, Waterham HR, Frengen E.

Hum Mol Genet. 2015 Oct 15;24(20):5845-54. doi: 10.1093/hmg/ddv305.

5.

Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype.

Braverman N, Chen L, Lin P, Obie C, Steel G, Douglas P, Chakraborty PK, Clarke JT, Boneh A, Moser A, Moser H, Valle D.

Hum Mutat. 2002 Oct;20(4):284-97.

PMID:
12325024
6.

Rhizomelic chrondrodysplasia punctata type 2 resulting from paternal isodisomy of chromosome 1.

Nimmo G, Monsonego S, Descartes M, Franklin J, Steinberg S, Braverman N.

Am J Med Genet A. 2010 Jul;152A(7):1812-7. doi: 10.1002/ajmg.a.33489.

PMID:
20583171
7.
8.

Mutational spectrum in the PEX7 gene and functional analysis of mutant alleles in 78 patients with rhizomelic chondrodysplasia punctata type 1.

Motley AM, Brites P, Gerez L, Hogenhout E, Haasjes J, Benne R, Tabak HF, Wanders RJ, Waterham HR.

Am J Hum Genet. 2002 Mar;70(3):612-24.

9.

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.

10.

Rhizomelic chondrodysplasia punctata is caused by deficiency of human PEX7, a homologue of the yeast PTS2 receptor.

Purdue PE, Zhang JW, Skoneczny M, Lazarow PB.

Nat Genet. 1997 Apr;15(4):381-4.

PMID:
9090383
11.

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.

PMID:
23357221
12.

In vitro and in vivo plasmalogen replacement evaluations in rhizomelic chrondrodysplasia punctata and Pelizaeus-Merzbacher disease using PPI-1011, an ether lipid plasmalogen precursor.

Wood PL, Khan MA, Smith T, Ehrmantraut G, Jin W, Cui W, Braverman NE, Goodenowe DB.

Lipids Health Dis. 2011 Oct 18;10:182. doi: 10.1186/1476-511X-10-182.

13.

MRI of the brain and cervical spinal cord in rhizomelic chondrodysplasia punctata.

Bams-Mengerink AM, Majoie CB, Duran M, Wanders RJ, Van Hove J, Scheurer CD, Barth PG, Poll-The BT.

Neurology. 2006 Mar 28;66(6):798-803; discussion 789.

PMID:
16567694
14.

Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor.

Motley AM, Hettema EH, Hogenhout EM, Brites P, ten Asbroek AL, Wijburg FA, Baas F, Heijmans HS, Tabak HF, Wanders RJ, Distel B.

Nat Genet. 1997 Apr;15(4):377-80.

PMID:
9090382
15.

Rhizomelic chondrodysplasia punctata, a peroxisomal biogenesis disorder caused by defects in Pex7p, a peroxisomal protein import receptor: a minireview.

Purdue PE, Skoneczny M, Yang X, Zhang JW, Lazarow PB.

Neurochem Res. 1999 Apr;24(4):581-6. Review.

PMID:
10227689
16.

A novel nonsense mutation of the PEX7 gene in a patient with rhizomelic chondrodysplasia punctata.

Shimozawa N, Suzuki Y, Zhang Z, Miura K, Matsumoto A, Nagaya M, Castillo-Taucher S, Kondo N.

J Hum Genet. 1999;44(2):123-5.

PMID:
10083738
17.

Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata.

Braverman N, Steel G, Obie C, Moser A, Moser H, Gould SJ, Valle D.

Nat Genet. 1997 Apr;15(4):369-76.

PMID:
9090381
18.

Plasmalogens and fatty alcohols in rhizomelic chondrodysplasia punctata and Sjögren-Larsson syndrome.

Malheiro AR, da Silva TF, Brites P.

J Inherit Metab Dis. 2015 Jan;38(1):111-21. doi: 10.1007/s10545-014-9795-3. Review.

PMID:
25432520
19.

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
20.

Growth charts for individuals with rhizomelic chondrodysplasia punctata.

Duker AL, Niiler T, Eldridge G, Brereton NH, Braverman NE, Bober MB.

Am J Med Genet A. 2016 Sep 12. doi: 10.1002/ajmg.a.37961. [Epub ahead of print]

PMID:
27616591
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