148 related articles for article (PubMed ID: 14502341)
1. [Rhizomelic chondrodysplasia punctata - case report].
Pascolat G; Zindeluk JL; Abrão KC; Rodrigues FM; Guedes CI
J Pediatr (Rio J); 2003; 79(2):189-92. PubMed ID: 14502341
[TBL] [Abstract][Full Text] [Related]
2. Chondrodysplasia punctata and maternal autoimmune disease: a new case and review of the literature.
Shanske AL; Bernstein L; Herzog R
Pediatrics; 2007 Aug; 120(2):e436-41. PubMed ID: 17671048
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. Antenatal ultrasonographic diagnosis of rhizomelic chondrodysplasia punctata.
Hertzberg BS; Kliewer MA; Decker M; Miller CR; Bowie JD
J Ultrasound Med; 1999 Oct; 18(10):715-8. PubMed ID: 10511306
[TBL] [Abstract][Full Text] [Related]
5. Rhizomelic chondrodysplasia punctata with maternal systemic lupus erythromatosus.
Roy A; De P; Chakraborty S
Indian Pediatr; 2013 Jun; 50(6):605-7. PubMed ID: 23942406
[TBL] [Abstract][Full Text] [Related]
6. Prenatal ultrasonographic diagnosis of rhizomelic chondrodysplasia punctata by detection of rhizomelic shortening and bilateral cataracts.
Başbuğ M; Serin IS; Ozçelik B; Guneş T; Akçakuş M; Tayyar M
Fetal Diagn Ther; 2005; 20(3):171-4. PubMed ID: 15824492
[TBL] [Abstract][Full Text] [Related]
7. Multivoxel magnetic resonance spectroscopy in a rhizomelic chondrodysplasia punctata case.
Sigirci A; Alkan A; Kutlu R; Gülcan H
J Child Neurol; 2005 Aug; 20(8):698-701. PubMed ID: 16225820
[TBL] [Abstract][Full Text] [Related]
8. [Ocular phenotype in a child with chondrodysplasia punctata, rhizomelic form].
Sanchez E; Munier F; Evéquoz B; Marcoz JP; Balmer A
Klin Monbl Augenheilkd; 1997 May; 210(5):329-31. PubMed ID: 9324546
[TBL] [Abstract][Full Text] [Related]
9. [Case report: Rhizomelic chondrodysplasia punctata and foramen magnum stenosis in a newborn].
Yalin CT; Bayrak IK; Danaci M; Incesu L
Tani Girisim Radyol; 2003 Mar; 9(1):100-3. PubMed ID: 14661305
[TBL] [Abstract][Full Text] [Related]
10. A Novel Variant in the AGPS Gene Causes the Rare Rhizomelic Chondrodysplasia Punctata Type 3: A Case Report.
Shawli AM; Nazer AT; Khayyat Y; Alqurashi MG; Hakami F
Cureus; 2021 Dec; 13(12):e20543. PubMed ID: 35070570
[TBL] [Abstract][Full Text] [Related]
11. Type 1 rhizomelic chondrodysplasia punctata with a homozygous PEX7 mutation.
Muratoğlu Şahin N; Bilici ME; Kurnaz E; Pala Akdoğan M; Ceylaner S; Aycan Z
J Pediatr Endocrinol Metab; 2017 Aug; 30(8):889-892. PubMed ID: 28742517
[TBL] [Abstract][Full Text] [Related]
12. 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. PubMed ID: 23431749
[TBL] [Abstract][Full Text] [Related]
13. [Peroxisomal disorder, rhizomelyc chondrodysplasia punctata type 1: case report].
González-Ortiz CL; Jaimes Leguizamón SB; Contreras-García GA
Rev Chil Pediatr; 2017; 88(4):511-516. PubMed ID: 28898320
[TBL] [Abstract][Full Text] [Related]
14. Colonic perforation in the first few hours of life associated with rhizomelic chondrodysplasia punctata.
Fairbanks T; Emil S
Pediatr Surg Int; 2005 Aug; 21(8):662-4. PubMed ID: 15933890
[TBL] [Abstract][Full Text] [Related]
15. Prenatal sonographic diagnosis of non-rhizomelic chondrodysplasia punctata.
Sherer DM; Glantz JC; Allen TA; Lonardo F; Metlay LA
Obstet Gynecol; 1994 May; 83(5 Pt 2):858-60. PubMed ID: 8159377
[TBL] [Abstract][Full Text] [Related]
16. Lethal form of chondrodysplasia punctata with normal plasmalogen and cholesterol biosynthesis.
Kumada S; Hayashi M; Kenmochi J; Kurosawa S; Shimozawa N; Kratz LE; Kelley RI; Taki K; Okaniwa M
Am J Med Genet; 2001 Jan; 98(3):250-5. PubMed ID: 11169563
[TBL] [Abstract][Full Text] [Related]
17. Lethal non-rhizomelic dysplasia epiphysealis punctata.
Kozlowski K; Godlonton J; Gardner J; Beighton P
Clin Dysmorphol; 2002 Jul; 11(3):203-8. PubMed ID: 12072802
[TBL] [Abstract][Full Text] [Related]
18. Chondrodysplasia punctata: a clinical diagnostic and radiological review.
Irving MD; Chitty LS; Mansour S; Hall CM
Clin Dysmorphol; 2008 Oct; 17(4):229-41. PubMed ID: 18978650
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Isolated dihydroxyacetonephosphate-acyl-transferase deficiency in rhizomelic chondrodysplasia punctata: clinical presentation, metabolic and histological findings.
Hebestreit H; Wanders RJ; Schutgens RB; Espeel M; Kerckaert I; Roels F; Schmausser B; Schrod L; Marx A
Eur J Pediatr; 1996 Dec; 155(12):1035-9. PubMed ID: 8956940
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]