| 1 | Functional characterization of novel mutations in GNPAT and AGPS, causing rhizomelic chondrodysplasia punctata (RCDP) types 2 and 3. (21990100) | Itzkovitz B.... Braverman N. | 2011 | GNPAT, AGPS |
| 2 | Rhizomelic chondrodysplasia punctata type 1: report o f mutations in 3 children from India. (20145307) | Phadke S.R.... Braverman N. | 2010 | PEX7 |
| 3 | Clinical and molecular analysis of arylsulfatase E in patients with brachytelephalangic chondrodysplasia punctata. (18348268) | Nino M.... Braverman N. | 2008 | ARSE |
| 4 | Prenatal testing for a novel EBP missense mutation causing X-linked dominant chondrodysplasia punctata. (18395876) | Tysoe C.... Ellard S. | 2008 | EBP |
| 5 | A severely affected female infant with x-linked dominant chondrodysplasia punctata: a case report and a brief review of the literature. (17378690) | Rakheja D.... Timmons C.F. | 2007 | EBP |
| 6 | Brachytelephalangic chondrodysplasia punctata with severe spinal cord compression: report of four new cases. (16937129) | Garnier A.... Baumann C. | 2007 | ARSE |
| 7 | Reduced penetrance in a family with X-linked dominant chondrodysplasia punctata. (17625999) | Hellenbroich Y.... Gillessen-Kaesbach G. | 2007 | EBP |
| 8 | X-linked dominant chondrodysplasia punctata (CDPX2): multisystemic impact of the defect in cholesterol biosynthesis. (18399064) | Martanova H.... Zeman J. | 2007 | EBP |
| 9 | X-Linked dominant chondrodysplasia punctata: prenatal diagnosis and autopsy findings. (17086568) | Umranikar S.... Chitayat D. | 2006 | EBP |
| 10 | Detection of gene deletions in children with chondrodysplasia punctata, ichthyosis, Kallmann syndrome, and ocular albinism by FISH studies. (16323556) | Hou J.W. | 2005 | GPR143 |
| 11 | Identification and biochemical characterization of an avian sulfatase homologous to the human ARSE, the gene for X-linked chondrodysplasia punctata. (15246527) | Ferrante P.... Meroni G. | 2004 | ARSH |
| 12 | Longterm follow-up in chondrodysplasia punctata, tibia-metacarpal type, demonstrating natural history. (14699613) | Savarirayan R.... Sheffield L.J. | 2004 | ARSD |
| 13 | X-linked recessive chondrodysplasia punctata: spectrum of arylsulfatase E gene mutations and expanded clinical variability. (12567415) | Brunetti-Pierri N.... Parenti G. | 2003 | ARSE |
| 14 | Impaired neuronal migration and endochondral ossification in Pex7 knockout mice: a model for rhizomelic chondrodysplasia punctata. (12915479) | Brites P.... Baes M. | 2003 | PEX7 |
| 15 | Molecular prenatal diagnosis in a case of an X-linked dominant chondrodysplasia punctata. (12975777) | Whittock N.V.... Wakelin S.H. | 2003 | EBP |
| 16 | Skewed X-chromosome inactivation causes intra-familial phenotypic variation of an EBP mutation in a family with X-linked dominant chondrodysplasia punctata. (12483303) | Shirahama S.... Ikegawa S. | 2003 | EBP |
| 17 | X-linked dominant chondrodysplasia punctata (CDPX2) caused by single gene mosaicism in a male. (12503102) | Aughton D.J.... Pauli R.M. | 2003 | EBP |
| 18 | Characterization of mutations in 22 females with X-linked dominant chondrodysplasia punctata (Happle syndrome). (12509714) | Herman G.E.... Metzenberg A.B. | 2002 | EBP |
| 19 | Mutational spectrum in the PEX7 gene and functional analysis of mutant alleles in 78 patients with rhizomelic chondrodysplasia punctata type 1. (11781871) | Motley A.M.... Waterham H.R. | 2002 | PEX7 |
| 20 | Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype. (12325024) | Braverman N.... Valle D. | 2002 | PEX7 |
| 21 | Novel and recurrent EBP mutations in X-linked dominant chondrodysplasia punctata. (11038443) | Ikegawa S.... Nakamura Y. | 2000 | EBP |
| 22 | Abnormal myelin formation in rhizomelic chondrodysplasia punctata type 2 (DHAPAT-deficiency). (10972423) | Sztriha L.... Lestringant G.G. | 2000 | GNPAT, AGPS |
| 23 | Rhizomelic chondrodysplasia punctata, a peroxisomal biogenesis disorder caused by defects in Pex7p, a peroxisomal protein import receptor: a minireview. (10227689) | Purdue P.E.... Lazarow P.B. | 1999 | PEX7 |
| 24 | Mutations in a delta(8)-delta(7) sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata. (10391218) | Derry J.M.J.... Herman G.E. | 1999 | EBP |
| 25 | A novel nonsense mutation of the PEX7 gene in a patient with rhizomelic chondrodysplasia punctata. (10083738) | Shimozawa N.... Kondo N. | 1999 | PEX7 |
| 26 | Cholesterol biosynthesis, peroxisomes and peroxisomal disorders: mevalonate kinase is not only deficient in Zellweger syndrome but also in rhizomelic chondrodysplasia punctata. (9686383) | Wanders R.J.... Romeijn G.J. | 1998 | MVK |
| 27 | Acyl-CoA:dihydroxyacetonephosphate acyltransferase: cloning of the human cDNA and resolution of the molecular basis in rhizomelic chondrodysplasia punctata type 2. (9536089) | Ofman R.... Wanders R.J. | 1998 | PHYH, GNPAT, AGPS |
| 28 | Biochemical characterization of arylsulfatase E and functional analysis of mutations found in patients with X-linked chondrodysplasia punctata. (9497243) | Daniele A.... Meroni G. | 1998 | ARSE |
| 29 | Rhizomelic chondrodysplasia punctata is caused by deficiency of human PEX7, a homologue of the yeast PTS2 receptor. (9090383) | Purdue P.E.... Lazarow P.B. | 1997 | GNPAT, PEX7 |
| 30 | Phytanoyl-CoA hydroxylase is not only deficient in classical Refsum disease but also in rhizomelic chondrodysplasia punctata. (9266377) | Jansen G.A.... Wanders R.J. | 1997 | PHYH |
| 31 | X-linked recessive chondrodysplasia punctata due to a new point mutation of the ARSE gene. (9409863) | Parenti G.... Andria G. | 1997 | ARSE |
| 32 | Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata. (9090381) | Braverman N.... Valle D. | 1997 | PEX7 |
| 33 | Isolated dihydroxyacetonephosphate-acyl-transferase deficiency in rhizomelic chondrodysplasia punctata: clinical presentation, metabolic and histological findings. (8956940) | Hebestreit H.... Marx A. | 1996 | GNPAT |
| 34 | X-linked dominant chondrodysplasia punctata with decreased dihydroxyacetone phosphate acyltransferase activity. (8832947) | Sato M.... Miyachi Y. | 1996 | STS, GNPAT |
| 35 | Mutational analysis of the biglycan gene excludes it as a candidate for X-linked dominant chondrodysplasia punctata, dyskeratosis congenita, and incontinentia pigmenti. (8178833) | Das S.... Gitschier J. | 1994 | BGN |
| 36 | Chondrodysplasia punctata with a mild clinical course. (7914249) | Nuoffer J.M.... Wiesmann U.N. | 1994 | GNPAT |
| 37 | Chondrodysplasia punctata (the Conradi-Hunermann syndrome). A clinical case report and review of the literature (8341225) | Omobono E.... Goetsch W. | 1993 | PHYH, GNPAT |
| 38 | Chondrodysplasia Punctata 1, X-Linked Recessive (20301713) | Braverman N.E.... Oswald G.L. | 1993 | ARSE |
| 39 | Rhizomelic chondrodysplasia punctata with isolated DHAP-AT deficiency. (8466247) | Barr D.G.... Schutgens R.B. | 1993 | GNPAT |
| 40 | Cytoplasmic catalase and ghostlike peroxisomes in the liver from a child with atypical chondrodysplasia punctata. (8122328) | Espeel M.... Poll-The B.T. | 1993 | AGXT, HADHB |
| 41 | Ultrastructure and immunocytochemistry of hepatic peroxisomes in rhizomelic chondrodysplasia punctata. (1468458) | Hughes J.L.... Sillence D. | 1992 | CAT, HADHB, SLC25A17 |
| 42 | Genetic and biochemical heterogeneity in patients with the rhizomelic form of chondrodysplasia punctata--a complementation study. (1618493) | Heikoop J.C.... Tager J.M. | 1992 | ACAA1, GNPAT |
| 43 | Subcellular localisation and processing of non-specific lipid transfer protein are not aberrant in Rhizomelic Chondrodysplasia Punctata fibroblasts. (1347505) | Heikoop J.C.... Tager J.M. | 1992 | SCP2, ACAA1 |
| 44 | Rhizomelic chondrodysplasia punctata: biochemical studies of peroxisomes isolated from cultured skin fibroblasts. (1680308) | Singh I.... Hashimoto T. | 1991 | HADHB, GNPAT |
| 45 | Deletion of the distal short arm of the X chromosome (Xp) in a patient with short stature, chondrodysplasia punctata, and X-linked ichthyosis due to steroid sulfatase deficiency. (1785631) | Ballabio A.... Strisciuglio P. | 1991 | STS |
| 46 | Aberrant subcellular localization of peroxisomal 3-ketoacyl-CoA thiolase in the Zellweger syndrome and rhizomelic chondrodysplasia punctata. (2181395) | Balfe A.... Watkins P.A. | 1990 | HADHB |
| 47 | Heterozygous expression of X-linked chondrodysplasia punctata. Complex chromosome aberration including deletion of MIC2 and STS. (2265834) | Wohrle D.... Steinbach P. | 1990 | CD99 |
| 48 | Rhizomelic chondrodysplasia punctata. Deficiency of 3-oxoacyl-coenzyme A thiolase in peroxisomes and impaired processing of the enzyme. (2365812) | Heikoop J.C.... Tager J.M. | 1990 | ACAA1 |
| 49 | X/Y translocation in a family with X-linked ichthyosis, chondrodysplasia punctata, and mental retardation: DNA analysis reveals deletion of the steroid sulphatase gene and translocation of its Y pseudogene. (3165728) | Ballabio A.... Andria G. | 1988 | STS |
| 50 | Inherited chondrodysplasia punctata due to a deletion of the terminal short arm of an X chromosome. (6482910) | Curry C.J.... Shapiro L.J. | 1984 | XG |
