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Items: 1 to 20 of 104

1.

First female prenatal case of osteopathia striata with cranial sclerosis in a fetus carrying a de-novo 1.9 Mbp interstitial deletion at Xq11.1q11.2.

Vuillaume ML, Valard AG, Houcinat N, Bouron J, Boucher C, Deves S, Toutain J, Schaub B, Adenet C, Lacombe D, Gueneret M, Rooryck C.

Clin Dysmorphol. 2017 Oct;26(4):231-234. doi: 10.1097/MCD.0000000000000192. No abstract available.

PMID:
28799946
2.

Osteopathia striata with cranial sclerosis and developmental delay in a male with a mosaic deletion in chromosome region Xq11.2.

Chénier S, Noor A, Dupuis L, Stavropoulos DJ, Mendoza-Londono R.

Am J Med Genet A. 2012 Nov;158A(11):2946-52. doi: 10.1002/ajmg.a.35619. Epub 2012 Sep 17.

PMID:
22987541
3.

Comments on "osteopathia striata cranial sclerosis: non-random X-inactivation suggestive of X-linked dominant inheritance".

Kraus C, König R, Rott HD.

Am J Med Genet A. 2003 Jun 15;119A(3):400. No abstract available.

PMID:
12784316
4.

Osteopathia striata congenita with cranial sclerosis and intellectual disability due to contiguous gene deletions involving the WTX locus.

Holman SK, Morgan T, Baujat G, Cormier-Daire V, Cho TJ, Lees M, Samanich J, Tapon D, Hove HD, Hing A, Hennekam R, Robertson SP.

Clin Genet. 2013 Mar;83(3):251-6. doi: 10.1111/j.1399-0004.2012.01905.x. Epub 2012 Jul 5.

PMID:
22670894
5.

Prenatal diagnosis of osteopathia striata with cranial sclerosis.

Vasiljevic A, Azzi C, Lacalm A, Combourieu D, Collardeau-Frachon S, Dijoud F, Massardier J, Van Hul W, Fromageoux C, Guibaud L, Gaucherand P, Cordier MP, Massoud M.

Prenat Diagn. 2015 Mar;35(3):302-4. doi: 10.1002/pd.4513. Epub 2014 Nov 26. No abstract available.

PMID:
25284440
6.

A de novo 1.9-Mb interstitial deletion of 3q13.2q13.31 in a girl with dysmorphic features, muscle hypotonia, and developmental delay.

Shimojima K, Saito K, Yamamoto T.

Am J Med Genet A. 2009 Aug;149A(8):1818-22. doi: 10.1002/ajmg.a.32963. No abstract available.

PMID:
19610083
7.

Prenatal diagnosis of a 12q22q23.2 interstitial deletion by array CGH in a malformed fetus.

Kremer V, Girard F, Gasser B, Marcellin L, Christmann D, Nisand I, Schmitt E, Florent S, Flori E.

Eur J Med Genet. 2012 Apr;55(4):269-73. doi: 10.1016/j.ejmg.2012.02.001. Epub 2012 Feb 23.

PMID:
22425634
8.

Prenatal diagnosis of a female fetus with ring chromosome 9, 46,XX,r(9)(p24q34), and a de novo interstitial 9p deletion.

Penacho V, Galán F, Martín-Bayón TA, Mayo S, Manchón I, Carrasco A, Martínez-Castellano F, Alcaraz LA.

Cytogenet Genome Res. 2014;144(4):275-9. doi: 10.1159/000370256. Epub 2015 Feb 20.

PMID:
25722017
9.

Severe osteopathia striata with cranial sclerosis in a female case with whole WTX gene deletion.

Herman SB, Holman SK, Robertson SP, Davidson L, Taragin B, Samanich J.

Am J Med Genet A. 2013 Mar;161A(3):594-9. doi: 10.1002/ajmg.a.35716. Epub 2013 Feb 7.

PMID:
23401208
10.
11.

[Osteopathia striata with cranial sclerosis].

Vicente Mérida D, Rodríguez Recio FJ, Garrido Blázquez M, Pereda Rodríguez J.

Radiologia. 2011 Nov-Dec;53(6):564-7. doi: 10.1016/j.rx.2010.07.012. Epub 2011 Jun 14. Spanish.

12.

Molecular genetic characterization of a prenatally detected de novo interstitial deletion of chromosome 20p (20p12-p13) encompassing JAG1 and a literature review of prenatal diagnosis of Alagille syndrome.

Chen CP, Yin CS, Wang LK, Chern SR, Chen SW, Lai ST, Wu PS, Chen WL, Wang W.

Taiwan J Obstet Gynecol. 2017 Jun;56(3):390-393. doi: 10.1016/j.tjog.2017.04.024.

13.
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15.

First case of osteopathia striata with cranial sclerosis in an adult male with Klinefelter syndrome.

Fradin M, Collet C, Ract I, Odent S, Guggenbuhl P.

Joint Bone Spine. 2017 Jan;84(1):87-90. doi: 10.1016/j.jbspin.2016.04.012. Epub 2016 Jun 28.

PMID:
27369646
16.

WTX R353X mutation in a family with osteopathia striata and cranial sclerosis (OS-CS): case report and literature review of the disease clinical, genetic and radiological features.

Zicari AM, Tarani L, Perotti D, Papetti L, Nicita F, Liberati N, Spalice A, Salvatori G, Guaraldi F, Duse M.

Ital J Pediatr. 2012 Jun 20;38:27. doi: 10.1186/1824-7288-38-27. Review.

17.

Osteopathia striata with cranial sclerosis affecting three family members.

Nakamura T, Yokomizo Y, Kanda S, Harada T, Naruse T.

Skeletal Radiol. 1985;14(4):267-9.

PMID:
4071101
18.

Clinical and molecular description of a fetus in prenatal diagnosis with a rare de novo ring 10 and deletions of 12.59 Mb in 10p15.3-p14 and 4.22 Mb in 10q26.3.

Christopoulou G, Tzetis M, Konstantinidou AE, Tsezou A, Kanavakis E, Kitsiou-Tzeli S, Velissariou V.

Eur J Med Genet. 2012 Jan;55(1):75-9. doi: 10.1016/j.ejmg.2011.08.002. Epub 2011 Sep 9.

PMID:
21914491
19.

Molecular cytogenetic characterization of Xp22.32→pter deletion and Xq26.3→qter duplication in a male fetus associated with 46,Y,rec(X)dup(Xq) inv(X)(p22.3q26.3), a hypoplastic left heart, short stature, and maternal X chromosome pericentric inversion.

Chen CP, Chen CY, Chern SR, Wu PS, Chen YN, Chen SW, Lee CC, Town DD, Lee MS, Yang CW, Wang W.

Taiwan J Obstet Gynecol. 2016 Oct;55(5):705-711. doi: 10.1016/j.tjog.2016.05.009.

20.

Cranial sclerosis with striated bone disease (osteopathia striata).

Piechowiak H, Goebel FD, Hirche U, Tyrell R.

Klin Padiatr. 1986 Sep-Oct;198(5):418-24.

PMID:
3784439

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