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Items: 1 to 20 of 91

1.

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.

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.

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, Brückl W, Schuffenhauer S, Jenderny J, Bacskulin A, Oppermann HC, Swensson O, Bouloux P, Meitinger T.

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

4.

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
6.

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
7.

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
8.

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
9.

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
10.

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
11.

Léri-Weill syndrome as part of a contiguous gene syndrome at Xp22.3.

Spranger S, Schiller S, Jauch A, Wolff K, Rauterberg-Ruland I, Hager D, Tariverdian G, Tröger J, Rappold G.

Am J Med Genet. 1999 Apr 23;83(5):367-71.

PMID:
10232745
12.

Prenatal findings in a fetus with contiguous gene syndrome caused by deletion of Xp22.3 that includes locus for X-linked recessive type of chondrodysplasia punctata (CDPX1).

Horikoshi T, Kikuchi A, Tamaru S, Ono K, Kita M, Takagi K, Miyashita S, Kawame H, Shimokawa O, Harada N.

J Obstet Gynaecol Res. 2010 Jun;36(3):671-5. doi: 10.1111/j.1447-0756.2010.01193.x.

PMID:
20598055
13.

An Xp; Yq translocation causing a novel contiguous gene syndrome in brothers with generalized epilepsy, ichthyosis, and attention deficits.

Doherty MJ, Glass IA, Bennett CL, Cotter PD, Watson NF, Mitchell AL, Bird TD, Farrell DF.

Epilepsia. 2003 Dec;44(12):1529-35.

14.

Terminal deletion of Xp22.3 associated with contiguous gene syndrome: Léri-Weill dyschondrosteosis, developmental delay, and ichthyosis.

Vassal H, Medeira A, Cordeiro I, Santos HG, Castedo S, Saraiva C, da Silva PM, Monteiro C.

Am J Med Genet. 2001 Apr 1;99(4):331-4. No abstract available.

PMID:
11252003
15.

Mental retardation in a boy with an interstitial deletion at Xp22.3 involving STS, KAL1, and OA1: implication for the MRX locus.

Muroya K, Ogata T, Matsuo N, Nagai T, Franco B, Ballabio A, Rappold G, Sakura N, Fukushima Y.

Am J Med Genet. 1996 Sep 6;64(4):583-7.

PMID:
8870926
16.

Deletion of Xpter encompassing the SHOX gene and PAR1 region in familial patients with Leri-Weill Dyschondrosteosis syndrome.

Mutesa L, Vanbellinghen JF, Hellin AC, Segers K, Jamar M, Pierquin G, Bours V.

Genet Couns. 2009;20(1):9-17.

PMID:
19400538
17.

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
18.

Submicroscopic Xpter deletion in a boy with growth and mental retardation caused by a familial t(X;14).

de Vries BB, Eussen BH, van Diggelen OP, van Der Heide A, Deelen WH, Govaerts LC, Lindhout D, Wouters CH, Van Hemel JO.

Am J Med Genet. 1999 Nov 19;87(2):189-94.

PMID:
10533035
19.

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.

Clin Genet. 2001 Feb;59(2):115-21.

PMID:
11260213
20.

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

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