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Items: 1 to 20 of 121

1.

Contiguous gene syndrome due to an interstitial deletion in Xp22.3 in a boy with ichthyosis, chondrodysplasia punctata, mental retardation and ADHD.

Lonardo F, Parenti G, Luquetti DV, Annunziata I, Della Monica M, Perone L, De Gregori M, Zuffardi O, Brunetti-Pierri N, Andria G, Scarano G.

Eur J Med Genet. 2007 Jul-Aug;50(4):301-8. Epub 2007 May 21.

PMID:
17591464
2.

A male infant with a 9.6 Mb terminal Xp deletion including the OA1 locus: Limit of viability of Xp deletions in males.

Melichar VO, Guth S, Hellebrand H, Meindl A, von der Hardt K, Kraus C, Trautmann U, Rascher W, Rauch A, Zenker M.

Am J Med Genet A. 2007 Jan 15;143A(2):135-41.

PMID:
17163525
3.

Xp22.3 interstitial deletion: a recognizable chromosomal abnormality encompassing VCX3A and STS genes in a patient with X-linked ichthyosis and mental retardation.

Ben Khelifa H, Soyah N, Ben-Abdallah-Bouhjar I, Gritly R, Sanlaville D, Elghezal H, Saad A, Mougou-Zerelli S.

Gene. 2013 Sep 25;527(2):578-83. doi: 10.1016/j.gene.2013.06.018. Epub 2013 Jun 18.

PMID:
23791652
5.

Familial X;Y translocation with distinct phenotypic consequences: Characterization using FISH and array CGH.

Bukvic N, Carri VD, Di Cosola ML, Pustorino G, Cesarano C, Chetta M, Santacroce R, Sarno M, Sessa F, Longo V, Novelli A, Gentile M, Margaglione M.

Am J Med Genet A. 2010 Jul;152A(7):1730-4. doi: 10.1002/ajmg.a.33437.

PMID:
20578256
6.

A case of 9.7 Mb terminal Xp deletion including OA1 locus associated with contiguous gene syndrome.

Cho EH, Kim SY, Kim JK.

J Korean Med Sci. 2012 Oct;27(10):1273-7. doi: 10.3346/jkms.2012.27.10.1273. Epub 2012 Oct 2.

7.

Deletion of the distal short arm of the X chromosome (Xp) in a patient with short stature, chondrodysplasia punctata, and X-linked ichthyosis due to steroid sulfatase deficiency.

Ballabio A, Zollo M, Carrozzo R, Caiulo A, Zuffardi O, Cascioli CF, Viggiano D, Strisciuglio P.

Am J Med Genet. 1991 Nov 1;41(2):184-7.

PMID:
1785631
8.

Analysis of a terminal Xp22.3 deletion in a patient with six monogenic disorders: implications for the mapping of X linked ocular albinism.

Meindl A, Hosenfeld D, Br├╝ckl W, Schuffenhauer S, Jenderny J, Bacskulin A, Oppermann HC, Swensson O, Bouloux P, Meitinger T.

J Med Genet. 1993 Oct;30(10):838-42.

9.

Contiguous gene syndrome due to a maternally inherited 8.41 Mb distal deletion of chromosome band Xp22.3 in a boy with short stature, ichthyosis, epilepsy, mental retardation, cerebral cortical heterotopias and Dandy-Walker malformation.

van Steensel MA, Vreeburg M, Engelen J, Ghesquiere S, Stegmann AP, Herbergs J, van Lent J, Smeets B, Vles JH.

Am J Med Genet A. 2008 Nov 15;146A(22):2944-9. doi: 10.1002/ajmg.a.32473.

PMID:
18925676
10.
11.

Male infant with ichthyosis, Kallmann syndrome, chondrodysplasia punctata, and an Xp chromosome deletion.

Bick D, Curry CJ, McGill JR, Schorderet DF, Bux RC, Moore CM.

Am J Med Genet. 1989 May;33(1):100-7.

PMID:
2750777
12.

A familial contiguous gene deletion syndrome at Xp22.3 characterized by severe learning disabilities and ADHD.

Boycott KM, Parslow MI, Ross JL, Miller IP, Bech-Hansen NT, MacLeod PM.

Am J Med Genet A. 2003 Oct 1;122A(2):139-47.

PMID:
12955766
13.

Normal intelligence and social interactions in a male patient despite the deletion of NLGN4X and the VCX genes.

Mochel F, Missirian C, Reynaud R, Moncla A.

Eur J Med Genet. 2008 Jan-Feb;51(1):68-73. doi: 10.1016/j.ejmg.2007.11.002. Epub 2007 Nov 22.

PMID:
18194880
14.

A MOLECULARLY CHARACTERIZED INTERSTITIAL DELETION ENCOMPASSING THE 11q14.1-q23.3 REGION IN A CASE WITH MULTIPLE CONGENITAL ABNORMALITIES.

Cetin Z, Altiok-Clark O, Yakut S, Guzel-Nur B, Mihci E, Berker-Karauzum S.

Genet Couns. 2016;27(1):51-66.

PMID:
27192892
16.

Molecular cytogenetic analysis of a familial interstitial deletion Xp22.2-22.3 with a highly variable phenotype in female carriers.

Chocholska S, Rossier E, Barbi G, Kehrer-Sawatzki H.

Am J Med Genet A. 2006 Mar 15;140(6):604-10.

PMID:
16470742
17.

Prenatal diagnosis and investigation of a fetus with chondrodysplasia punctata, ichthyosis, and Kallmann syndrome due to an Xp deletion.

Bick DP, Schorderet DF, Price PA, Campbell L, Huff RW, Shapiro LJ, Moore CM.

Prenat Diagn. 1992 Jan;12(1):19-29.

PMID:
1557308
18.

An interstitial deletion in Xp22.3 in a family with X-linked recessive chondrodysplasia punctata and short stature.

Petit C, Melki J, Levilliers J, Serville F, Weissenbach J, Maroteaux P.

Hum Genet. 1990 Jul;85(2):247-50.

PMID:
2370057
19.

Inherited chondrodysplasia punctata due to a deletion of the terminal short arm of an X chromosome.

Curry CJ, Magenis RE, Brown M, Lanman JT Jr, Tsai J, O'Lague P, Goodfellow P, Mohandas T, Bergner EA, Shapiro LJ.

N Engl J Med. 1984 Oct 18;311(16):1010-5.

PMID:
6482910
20.

X/Y translocation in a family with X-linked ichthyosis, chondrodysplasia punctata, and mental retardation: DNA analysis reveals deletion of the steroid sulphatase gene and translocation of its Y pseudogene.

Ballabio A, Parenti G, Carrozzo R, Coppa G, Felici L, Migliori V, Silengo M, Franceschini P, Andria G.

Clin Genet. 1988 Jul;34(1):31-7.

PMID:
3165728

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