These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

188 related articles for article (PubMed ID: 10972423)

  • 21. Inactivation of ether lipid biosynthesis causes male infertility, defects in eye development and optic nerve hypoplasia in mice.
    Rodemer C; Thai TP; Brugger B; Kaercher T; Werner H; Nave KA; Wieland F; Gorgas K; Just WW
    Hum Mol Genet; 2003 Aug; 12(15):1881-95. PubMed ID: 12874108
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Delayed myelination in a rhizomelic chondrodysplasia punctata case: MR spectroscopy findings.
    Alkan A; Kutlu R; Yakinci C; Sigirci A; Aslan M; Sarac K
    Magn Reson Imaging; 2003 Jan; 21(1):77-80. PubMed ID: 12620550
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Non-rhizomelic and rhizomelic chondrodysplasia punctata within a single complementation group.
    Motley AM; Tabak HF; Smeitink JA; Poll-The BT; Barth PG; Wanders RJ
    Biochim Biophys Acta; 1996 Apr; 1315(3):153-8. PubMed ID: 8611652
    [TBL] [Abstract][Full Text] [Related]  

  • 24. 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. PubMed ID: 9090383
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Variant rhizomelic chondrodysplasia punctata (RCDP) with normal plasma phytanic acid: clinico-biochemical delineation of a subtype and complementation studies.
    Barth PG; Wanders RJ; Schutgens RB; Staalman CR
    Am J Med Genet; 1996 Mar; 62(2):164-8. PubMed ID: 8882397
    [TBL] [Abstract][Full Text] [Related]  

  • 26. 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. PubMed ID: 25432520
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Rhizomelic chondrodysplasia punctata-like phenotype in a newborn male with normal peroxisomal function.
    Mota CR; Vilarinho A; Nogueira A; Lima MR
    J Pediatr Orthop B; 1997 Jan; 6(1):20-3. PubMed ID: 9039662
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Alkyl-dihydroxyacetonephosphate synthase. Fate in peroxisome biogenesis disorders and identification of the point mutation underlying a single enzyme deficiency.
    de Vet EC; Ijlst L; Oostheim W; Wanders RJ; van den Bosch H
    J Biol Chem; 1998 Apr; 273(17):10296-301. PubMed ID: 9553082
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Expanding the genotypic and phenotypic landscapes of rhizomelic chondrodysplasia punctata type 3 (RCDP3) with two novel families, and a review of the literature.
    İli EG; Gezdirici A; Di Pietro E; Yergeau C; Braverman N
    Am J Med Genet A; 2022 Nov; 188(11):3229-3235. PubMed ID: 35986576
    [TBL] [Abstract][Full Text] [Related]  

  • 30. 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. PubMed ID: 22659211
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Chondrodysplasia punctata with a mild clinical course.
    Nuoffer JM; Pfammatter JP; Spahr A; Toplak H; Wanders RJ; Schutgens RB; Wiesmann UN
    J Inherit Metab Dis; 1994; 17(1):60-6. PubMed ID: 7914249
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Homeostasis of phospholipids - The level of phosphatidylethanolamine tightly adapts to changes in ethanolamine plasmalogens.
    Dorninger F; Brodde A; Braverman NE; Moser AB; Just WW; Forss-Petter S; Brügger B; Berger J
    Biochim Biophys Acta; 2015 Feb; 1851(2):117-28. PubMed ID: 25463479
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Measurement of dihydroxyacetone-phosphate acyltransferase (DHAPAT) in chorionic villous samples, blood cells and cultured cells.
    Wanders RJ; Ofman R; Romeijn GJ; Schutgens RB; Mooijer PA; Dekker C; van den Bosch H
    J Inherit Metab Dis; 1995; 18 Suppl 1():90-100. PubMed ID: 9053559
    [TBL] [Abstract][Full Text] [Related]  

  • 34. A Pex7 hypomorphic mouse model for plasmalogen deficiency affecting the lens and skeleton.
    Braverman N; Zhang R; Chen L; Nimmo G; Scheper S; Tran T; Chaudhury R; Moser A; Steinberg S
    Mol Genet Metab; 2010 Apr; 99(4):408-16. PubMed ID: 20060764
    [TBL] [Abstract][Full Text] [Related]  

  • 35. 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. PubMed ID: 23572185
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Biochemical abnormalities in rhizomelic chondrodysplasia punctata.
    Hoefler G; Hoefler S; Watkins PA; Chen WW; Moser A; Baldwin V; McGillivary B; Charrow J; Friedman JM; Rutledge L
    J Pediatr; 1988 May; 112(5):726-33. PubMed ID: 2452243
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Rhizomelic chondrodysplasia punctata: biochemical studies of peroxisomes isolated from cultured skin fibroblasts.
    Singh I; Lazo O; Contreras M; Stanley W; Hashimoto T
    Arch Biochem Biophys; 1991 Apr; 286(1):277-83. PubMed ID: 1680308
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Impaired neuronal migration and endochondral ossification in Pex7 knockout mice: a model for rhizomelic chondrodysplasia punctata.
    Brites P; Motley AM; Gressens P; Mooyer PA; Ploegaert I; Everts V; Evrard P; Carmeliet P; Dewerchin M; Schoonjans L; Duran M; Waterham HR; Wanders RJ; Baes M
    Hum Mol Genet; 2003 Sep; 12(18):2255-67. PubMed ID: 12915479
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Peripheral nervous system plasmalogens regulate Schwann cell differentiation and myelination.
    da Silva TF; Eira J; Lopes AT; Malheiro AR; Sousa V; Luoma A; Avila RL; Wanders RJ; Just WW; Kirschner DA; Sousa MM; Brites P
    J Clin Invest; 2014 Jun; 124(6):2560-70. PubMed ID: 24762439
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Plasmalogen biosynthesis in peroxisomal disorders: fatty alcohol versus alkylglycerol precursors.
    Schrakamp G; Schalkwijk CG; Schutgens RB; Wanders RJ; Tager JM; van den Bosch H
    J Lipid Res; 1988 Mar; 29(3):325-34. PubMed ID: 3379344
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 10.