PubMed for id: 415

Year	Number of Results
1993	1
1994	1
1995	1
1996	1
1997	2
1998	1
2000	1
2001	1
2002	1
2003	1
2004	2
2005	2
2006	2
2008	3
2009	2
2011	3
2012	1
2013	2
2014	1
2020	1
2021	2
2022	2
2024	0

1

Evidence for high breakpoint variability in 46, XX, SRY-positive testicular disorder and frequent ARSE deletion that may be associated with short stature.

Capron C, Januel L, Vieville G, Jaillard S, Kuentz P, Salaun G, Nadeau G, Clement P, Brechard MP, Herve B, Dupont JM, Gruchy N, Chambon P, Abdelhedi F, Dahlen E, Vago P, Harbuz R, Plotton I, Coutton C, Belaud-Rotureau MA, Schluth-Bolard C, Vialard F. Capron C, et al. Andrology. 2022 Nov;10(8):1625-1631. doi: 10.1111/andr.13279. Epub 2022 Sep 7. Andrology. 2022. PMID: 36026611 Free article.

2

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.

3

Clinical and genetic analysis of a Korean patient with X-linked chondrodysplasia punctata: identification of a novel splicing mutation in the ARSE gene.

Jeon GW, Kwon MJ, Lee SJ, Sin JB, Ki CS. Jeon GW, et al. Ann Clin Lab Sci. 2013 Winter;43(1):70-5. Ann Clin Lab Sci. 2013. PMID: 23462608

4

Chondrodysplasia Punctata 1, X-Linked.

Braverman NE, Bober MB, Brunetti-Pierri N, Suchy SF. Braverman NE, et al. 2008 Apr 22 [updated 2020 Oct 15]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2008 Apr 22 [updated 2020 Oct 15]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301713 Free Books & Documents. Review.

5

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

6

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

7

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

8

Brachytelephalangic dwarfism due to the loss of ARSE and SHOX genes resulting from an X;Y translocation.

Seidel J, Schiller S, Kelbova C, Beensen V, Orth U, Vogt S, Claussen U, Zintl F, Rappold GA. Seidel J, et al. Clin Genet. 2001 Feb;59(2):115-21. doi: 10.1034/j.1399-0004.2001.590209.x. Clin Genet. 2001. PMID: 11260213

9

Biochemical characterization of arylsulfatase E and functional analysis of mutations found in patients with X-linked chondrodysplasia punctata.

Daniele A, Parenti G, d'Addio M, Andria G, Ballabio A, Meroni G. Daniele A, et al. Am J Hum Genet. 1998 Mar;62(3):562-72. doi: 10.1086/301746. Am J Hum Genet. 1998. PMID: 9497243 Free PMC article.

10

Neonatal detection of Turner syndrome by real-time PCR gene quantification of the ARSE and MAGEH1 genes.

Corrêa SC, Rocha MN, Richeti F, Kochi C, Silva E Lima LA, Magalhães M, Longui CA. Corrêa SC, et al. Genet Mol Res. 2014 Oct 31;13(4):9068-76. doi: 10.4238/2014.October.31.22. Genet Mol Res. 2014. PMID: 25366798 Free article.

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