| 1 |
Cervical Spine Deformities in Children With Rhizomelic Chondrodysplasia Punctata. ( 28614284
)
|
Abousamra O....Mackenzie W.G.
|
2017 |
| 2 |
Type 1 rhizomelic chondrodysplasia punctata with a homozygous PEX7 mutation. ( 28742517
)
|
MuratoA9lu A9ahin N....Aycan Z.
|
2017 |
| 3 |
Neonatal Rhizomelic Chondrodysplasia Punctata Type 1: Weaving Evidence Into Clinical Practice. ( 29068853
)
|
Landino J....Iben S.C.
|
2017 |
| 4 |
Growth charts for individuals with rhizomelic chondrodysplasia punctata. ( 27616591
)
|
Duker A.L....Bober M.B.
|
2016 |
| 5 |
A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform. ( 26220973
)
|
BarA...Frengen E.
|
2015 |
| 6 |
Rhizomelic Chondrodysplasia Punctata Type 1 Caused by a Novel Mutation in the PEX7 Gene. ( 25800479
)
|
A8im A....Braverman N.E.
|
2015 |
| 7 |
Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1. ( 26587300
)
|
Jacobsen J.C....Lehnert K.
|
2015 |
| 8 |
Congenital heart defects common in rhizomelic chondrodysplasia punctata. ( 26408048
)
|
Duker A.L....Bober M.B.
|
2015 |
| 9 |
Rare Case of Rhizomelic Chondrodysplasia Punctata. ( 27299065
)
|
Mahale Y....Chaudhari A.
|
2015 |
| 10 |
Plasmalogens and fatty alcohols in rhizomelic chondrodysplasia punctata and SjAPgren-Larsson syndrome. ( 25432520
)
|
Malheiro A.R....Brites P.
|
2015 |
| 11 |
Mild reduction of plasmalogens causes rhizomelic chondrodysplasia punctata: functional characterization of a novel mutation. ( 24849933
)
|
Noguchi M....Fujiki Y.
|
2014 |
| 12 |
A case of rhizomelic chondrodysplasia punctata in newborn. ( 24715923
)
|
KarabayA+r N....Korkmaz O.
|
2014 |
| 13 |
C86Y: as a destructive homozygous mutation deteriorating Pex7p function causing rhizomelic chondrodysplasia punctata type I. ( 23462609
)
|
Salamian A....Nasr-Esfahani M.H.
|
2013 |
| 14 |
Rhizomelic chondrodysplasia punctata with maternal systemic lupus erythromatosus. ( 23942406
)
|
Roy A....Chakraborty S.
|
2013 |
| 15 |
Identification of a novel missense mutation of PEX7 gene in an Iranian patient with rhizomelic chondrodysplasia punctata type 1. ( 23357221
)
|
Mohamadynejad P....Nasr-Esfahani M.H.
|
2013 |
| 16 |
An Atypical form Rhizomelic Chondrodysplasia Punctata in a Newborn. ( 24049758
)
|
Chatterjee S....Sinha M.K.
|
2013 |
| 17 |
Rhizomelic chondrodysplasia punctata and cardiac pathology. ( 23572185
)
|
Huffnagel I.C....Poll-The B.T.
|
2013 |
| 18 |
The neurology of rhizomelic chondrodysplasia punctata. ( 24172221
)
|
Bams-Mengerink A.M....Poll-The B.T.
|
2013 |
| 19 |
Rhizomelic chondrodysplasia punctata: A missed opportunity for early diagnosis. ( 23716944
)
|
Chhavi N....Karthikeyan K.
|
2012 |
| 20 |
Functional characterization of novel mutations in GNPAT and AGPS, causing rhizomelic chondrodysplasia punctata (RCDP) types 2 and 3. ( 21990100
)
|
Itzkovitz B....Braverman N.
|
2012 |
| 21 |
Severe rhizomelic chondrodysplasia punctata in a fetus due to maternal mixed connective tissue disorder. ( 23431749
)
|
Nayak S.S....Girisha K.M.
|
2012 |
| 22 |
Defective lipid remodeling of GPI anchors in peroxisomal disorders, Zellweger syndrome, and rhizomelic chondrodysplasia punctata. ( 22253471
)
|
Kanzawa N....Kinoshita T.
|
2012 |
| 23 |
Rhizomelic chondrodysplasia punctata type 1 and fulminant neonatal respiratory failure, a case report and discussion of pathophysiology. ( 22052861
)
|
Oswald G....Braverman N.
|
2011 |
| 24 |
Rhizomelic chondrodysplasia punctata: a classic 'spot' diagnosis. ( 22692643
)
|
Tinnion R.J....Harigopal S.
|
2011 |
| 25 |
Second trimester prenatal diagnosis of rhizomelic chondrodysplasia punctata type 1 on ultrasound findings. ( 20014169
)
|
Zwijnenburg P.J....Tan-Sindhunata M.B.
|
2010 |
| 26 |
Rhizomelic chondrodysplasia punctata type 1: report of mutations in 3 children from India. ( 20145307
)
|
Phadke S.R....Braverman N.
|
2010 |
| 27 |
Neuroimaging features in a neonate with rhizomelic chondrodysplasia punctata. ( 17950430
)
|
Goh S.
|
2007 |
| 28 |
MRI of the brain and cervical spinal cord in rhizomelic chondrodysplasia punctata. ( 16567694
)
|
Bams-Mengerink A.M....Poll-The B.T.
|
2006 |
| 29 |
Multivoxel magnetic resonance spectroscopy in a rhizomelic chondrodysplasia punctata case. ( 16225820
)
|
Sigirci A....GA1lcan H.
|
2005 |
| 30 |
Prenatal ultrasonographic diagnosis of rhizomelic chondrodysplasia punctata by detection of rhizomelic shortening and bilateral cataracts. ( 15824492
)
|
BaA9buA9 M....Tayyar M.
|
2005 |
| 31 |
Colonic perforation in the first few hours of life associated with rhizomelic chondrodysplasia punctata. ( 15933890
)
|
Fairbanks T....Emil S.
|
2005 |
| 32 |
Impaired neuronal migration and endochondral ossification in Pex7 knockout mice: a model for rhizomelic chondrodysplasia punctata. ( 12915479
)
|
Brites P....Baes M.
|
2003 |
| 33 |
Delayed myelination in a rhizomelic chondrodysplasia punctata case: MR spectroscopy findings. ( 12620550
)
|
Alkan A....Sarac K.
|
2003 |
| 34 |
Natural history of rhizomelic chondrodysplasia punctata. ( 12687664
)
|
White A.L....Pauli R.M.
|
2003 |
| 35 |
MR imaging and MR spectroscopy in rhizomelic chondrodysplasia punctata. ( 11901023
)
|
Viola A....Cozzone P.J.
|
2002 |
| 36 |
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 |
| 37 |
Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype. ( 12325024
)
|
Braverman N....Valle D.
|
2002 |
| 38 |
Cervical stenosis secondary to rhizomelic chondrodysplasia punctata. ( 11170096
)
|
Khanna A.J....Sponseller P.D.
|
2001 |
| 39 |
Abnormal myelin formation in rhizomelic chondrodysplasia punctata type 2 (DHAPAT-deficiency). ( 10972423
)
|
Sztriha L....Lestringant G.G.
|
2000 |
| 40 |
Cerebellar atrophy in chronic rhizomelic chondrodysplasia punctata: a potential role for phytanic acid and calcium in the death of its Purkinje cells. ( 10442551
)
|
Powers J.M....Moser H.W.
|
1999 |
| 41 |
Antenatal ultrasonographic diagnosis of rhizomelic chondrodysplasia punctata. ( 10511306
)
|
Hertzberg B.S....Bowie J.D.
|
1999 |
| 42 |
Prenatal diagnosis of rhizomelic chondrodysplasia punctata due to isolated alkyldihydroacetonephosphate acyltransferase synthase deficiency. ( 10327148
)
|
Brookhyser K.M....Rimoin D.L.
|
1999 |
| 43 |
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 |
| 44 |
A novel nonsense mutation of the PEX7 gene in a patient with rhizomelic chondrodysplasia punctata. ( 10083738
)
|
Shimozawa N....Kondo N.
|
1999 |
| 45 |
Molecular basis of rhizomelic chondrodysplasia punctata type I: high frequency of the Leu-292 stop mutation in 38 patients. ( 9686382
)
|
Brites P....Wanders R.J.
|
1998 |
| 46 |
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.A.
|
1998 |
| 47 |
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 |
| 48 |
Rhizomelic chondrodysplasia punctata-like phenotype in a newborn male with normal peroxisomal function. ( 9039662
)
|
Mota C.R....Lima M.R.
|
1997 |
| 49 |
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 |
| 50 |
Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata. ( 9090381
)
|
Braverman N....Valle D.
|
1997 |
Rare neurological diseases
