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Page 1
Prenatal Ultrasonographic Features Associated With ARSL and X-Linked Chondrodysplasia Punctata 1 (CDPX1): Literature Review and Case Series.
Broeren E, Stover S, Bennett K, Giordano J, Galloway S, Lauzon J, Rust L, Suerink M, van Haeringen A; Australian Genomic Autopsy Study Team; Reimers R. Broeren E, et al. Prenat Diagn. 2024 Dec;44(13):1663-1670. doi: 10.1002/pd.6649. Epub 2024 Sep 23. Prenat Diagn. 2024. PMID: 39313411
BACKGROUND: Chondrodysplasia punctata 1 (CDPX1) is an X-linked recessive disorder of cartilage and bone development characterized by stippling on the cartilage and bone, flattened nasal bridge, and brachydactyly, or short fingers. CDPX1 has been …
BACKGROUND: Chondrodysplasia punctata 1 (CDPX1) is an X-linked recessive disorder of cartilage and bone developm …
Brachytelephalangic chondrodysplasia punctata: a case series to further delineate the phenotype.
Gupta N, Ghosh M, Shukla R, Das GP, Kabra M. Gupta N, et al. Clin Dysmorphol. 2012 Jul;21(3):113-117. doi: 10.1097/MCD.0b013e32835439cd. Clin Dysmorphol. 2012. PMID: 22581171
Chondrodysplasia punctata (CDP) is a heterogenous group of skeletal dysplasias characterized by aberrant bone mineralization, manifesting radiologically as epiphyseal stippling. Among this group, brachytelephalangic dysplasia, a benign form of CDP (CDPX1 …
Chondrodysplasia punctata (CDP) is a heterogenous group of skeletal dysplasias characterized by aberrant bone mineralization, …
Clinical and molecular analysis of arylsulfatase E in patients with brachytelephalangic chondrodysplasia punctata.
Nino M, Matos-Miranda C, Maeda M, Chen L, Allanson J, Armour C, Greene C, Kamaluddeen M, Rita D, Medne L, Zackai E, Mansour S, Superti-Furga A, Lewanda A, Bober M, Rosenbaum K, Braverman N. Nino M, et al. Am J Med Genet A. 2008 Apr 15;146A(8):997-1008. doi: 10.1002/ajmg.a.32159. Am J Med Genet A. 2008. PMID: 18348268
X-linked Recessive Chondrodysplasia Punctata (CDPX1) is due to a defect in arylsulfatase E (ARSE), located on Xp22.3. ...We evaluated the ARSE gene in 11 patients who met clinical criteria for CDPX1. We amplified all exons and intr …
X-linked Recessive Chondrodysplasia Punctata (CDPX1) is due to a defect in arylsulfatase E (ARSE), locate …
X-linked recessive chondrodysplasia punctata: spectrum of arylsulfatase E gene mutations and expanded clinical variability.
Brunetti-Pierri N, Andreucci MV, Tuzzi R, Vega GR, Gray G, McKeown C, Ballabio A, Andria G, Meroni G, Parenti G. Brunetti-Pierri N, et al. Am J Med Genet A. 2003 Mar 1;117A(2):164-8. doi: 10.1002/ajmg.a.10950. Am J Med Genet A. 2003. PMID: 12567415
X-linked chondrodysplasia punctata (CDPX1), due to mutations of the arylsulfatase E (ARSE) gene, is a congenital disorder characterized by abnormalities in cartilage and bone development. ...This indicates that the clinical spectrum of CDPX1, co …
X-linked chondrodysplasia punctata (CDPX1), due to mutations of the arylsulfatase E (ARSE) gene, is a congenital …
Brachytelephalangic chondrodysplasia punctata: prenatal diagnosis and postnatal outcome.
Boulet S, Dieterich K, Althuser M, Nugues F, Durand C, Charra C, Schaal JP, Jouk PS. Boulet S, et al. Fetal Diagn Ther. 2010;28(3):186-90. doi: 10.1159/000297289. Epub 2010 Jun 3. Fetal Diagn Ther. 2010. PMID: 20523025
We report the prenatal management of a brachytelephalangic chondrodysplasia punctata (CDPX1) case and how postnatal findings confirmed the diagnosis. The mother was initially referred after ultrasound revealed an abnormal fetal mid-face and punctuation …
We report the prenatal management of a brachytelephalangic chondrodysplasia punctata (CDPX1) case and how postna …
X-linked brachytelephalangic chondrodysplasia punctata: a simple trait that is not so simple.
Casarin A, Rusalen F, Doimo M, Trevisson E, Carraro S, Clementi M, Tenconi R, Baraldi E, Salviati L. Casarin A, et al. Am J Med Genet A. 2009 Nov;149A(11):2464-8. doi: 10.1002/ajmg.a.33039. Am J Med Genet A. 2009. PMID: 19839041
Brachytelephalangic chondrodysplasia punctata (CDPX1) is an X-linked recessive disorder caused by mutations in the arylsulfatase E (ARSE) gene, characterized by the presence of stippled epiphyses on radiograms in infancy and early childho …
Brachytelephalangic chondrodysplasia punctata (CDPX1) is an X-linked recessive disorder caused by mutatio …
A novel frameshift deletion variant of ARSL associated with X-linked recessive chondrodysplasia punctata 1: a case report and literature review of prenatal, confirmed cases.
Zhou L, Peng Y, Chen J, Xi H, Wang S, Kang G, Tang W, Xie W. Zhou L, et al. BMC Med Genomics. 2024 Oct 18;17(1):253. doi: 10.1186/s12920-024-02029-9. BMC Med Genomics. 2024. PMID: 39425194 Free PMC article. Review.
BACKGROUND: X-linked recessive chondrodysplasia punctata 1 (CDPX1) is a rare congenital skeletal dysplasia characterized by stippled epiphyses, nasal hypoplasia, and brachytelephalangy. ARSL (formerly known as ARSE), a member of the sulfatase ge …
BACKGROUND: X-linked recessive chondrodysplasia punctata 1 (CDPX1) is a rare congenital skeletal dysplasia chara …
A prospective study of brachytelephalangic chondrodysplasia punctata: identification of arylsulfatase E mutations, functional analysis of novel missense alleles, and determination of potential phenocopies.
Matos-Miranda C, Nimmo G, Williams B, Tysoe C, Owens M, Bale S, Braverman N. Matos-Miranda C, et al. Genet Med. 2013 Aug;15(8):650-7. doi: 10.1038/gim.2013.13. Epub 2013 Mar 7. Genet Med. 2013. PMID: 23470839 Free article.
PURPOSE: The only known genetic cause of brachytelephalangic chondrodysplasia punctata is X-linked chondrodysplasia punctata 1 (CDPX1), which results from a deficiency of arylsulfatase E (ARSE). ...METHODS: To further evaluate caus …
PURPOSE: The only known genetic cause of brachytelephalangic chondrodysplasia punctata is X-linked chondrodysplasia …
X-linked recessive chondrodysplasia punctata due to a new point mutation of the ARSE gene.
Parenti G, Buttitta P, Meroni G, Franco B, Bernard L, Rizzolo MG, Brunetti-Pierri N, Ballabio A, Andria G. Parenti G, et al. Am J Med Genet. 1997 Dec 12;73(2):139-43. doi: 10.1002/(sici)1096-8628(19971212)73:2<139::aid-ajmg7>3.0.co;2-p. Am J Med Genet. 1997. PMID: 9409863
Chondrodysplasia punctata (CP) is a heterogeneous group of bone dysplasias that are characterized by abnormal calcium deposition in areas of enchondral bone formation. The existence of an X-linked recessive form of chondrodysplasia punctata (CDP …
Chondrodysplasia punctata (CP) is a heterogeneous group of bone dysplasias that are characterized by abnormal calcium depositi …
Identification and biochemical characterization of an avian sulfatase homologous to the human ARSE, the gene for X-linked chondrodysplasia punctata.
Ferrante P, Messali S, Ballabio A, Meroni G. Ferrante P, et al. Gene. 2004 Jul 21;336(2):155-61. doi: 10.1016/j.gene.2004.04.001. Gene. 2004. PMID: 15246527
Despite many efforts, the mouse homolog of ARSE, the gene implicated in X-linked recessive chondrodysplasia punctata, has not yet been identified. ...The identification of the ARSE chicken gene is an important step for the study of its natural s …
Despite many efforts, the mouse homolog of ARSE, the gene implicated in X-linked recessive chondrodysplasia punctata …
34 results