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Items: 1 to 20 of 90

1.

Phenotype in novel Xp duplication.

Salaria M, Burgess T, Setyapranata S, Winship I.

Am J Med Genet A. 2012 Sep;158A(9):2342-6. doi: 10.1002/ajmg.a.35538. Epub 2012 Aug 7.

PMID:
22887700
2.

9 Mb familial duplication in chromosome band Xp22.2-22.13 associated with mental retardation, hypotonia and developmental delay, scoliosis, cardiovascular problems and mild dysmorphic facial features.

Sismani C, Anastasiadou V, Kousoulidou L, Parkel S, Koumbaris G, Zilina O, Bashiardes S, Spanou E, Kurg A, Patsalis PC.

Eur J Med Genet. 2011 Sep-Oct;54(5):e510-5. doi: 10.1016/j.ejmg.2011.05.006. Epub 2011 Jun 17.

PMID:
21684358
3.

Characterization of interstitial Xp duplications in two families by tiling path array CGH.

Tzschach A, Chen W, Erdogan F, Hoeller A, Ropers HH, Castellan C, Ullmann R, Schinzel A.

Am J Med Genet A. 2008 Jan 15;146A(2):197-203.

PMID:
18076117
4.

Duplication Xp11.22-p14 in females: does X-inactivation help in assessing their significance?

Evers C, Mitter D, Strobl-Wildemann G, Haug U, Hackmann K, Maas B, Janssen JW, Jauch A, Hinderhofer K, Moog U.

Am J Med Genet A. 2015 Mar;167A(3):553-62. doi: 10.1002/ajmg.a.36897. Review.

PMID:
25691408
5.

A duplication of distal Xp associated with hypogonadotrophic hypogonadism, hypoplastic external genitalia, mental retardation, and multiple congenital abnormalities.

Telvi L, Ion A, Carel JC, Desguerre I, Piraud M, Boutin AM, Feingold J, Ponsot G, Fellous M, McElreavey K.

J Med Genet. 1996 Sep;33(9):767-71.

6.

An Xp21.3p11.4 duplication observed in a boy with intellectual deficiency and speech delay and his asymptomatic mother.

Wu L, Liu J, Lv W, Wen J, Xia Y, Liang D.

Birth Defects Res A Clin Mol Teratol. 2013 Jul;97(7):467-70. doi: 10.1002/bdra.23118. Epub 2013 Jul 4.

PMID:
23828844
7.

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
8.

Nine patients with Xp22.31 microduplication, cognitive deficits, seizures, and talipes anomalies.

Esplin ED, Li B, Slavotinek A, Novelli A, Battaglia A, Clark R, Curry C, Hudgins L.

Am J Med Genet A. 2014 Aug;164A(8):2097-103. doi: 10.1002/ajmg.a.36598. Epub 2014 May 6. Review.

PMID:
24800990
9.
10.

Int22h-1/int22h-2-mediated Xq28 rearrangements: intellectual disability associated with duplications and in utero male lethality with deletions.

El-Hattab AW, Fang P, Jin W, Hughes JR, Gibson JB, Patel GS, Grange DK, Manwaring LP, Patel A, Stankiewicz P, Cheung SW.

J Med Genet. 2011 Dec;48(12):840-50. doi: 10.1136/jmedgenet-2011-100125. Epub 2011 Oct 8.

11.

A de novo duplication of Xp11.22-p11.4 in a girl with intellectual disability, structural brain anomalies, and preferential inactivation of the normal X chromosome.

Holden ST, Clarkson A, Thomas NS, Abbott K, James MR, Willatt L.

Am J Med Genet A. 2010 Jul;152A(7):1735-40. doi: 10.1002/ajmg.a.33457.

PMID:
20578133
12.

Duplication of Xq26.2-q27.1, including SOX3, in a mother and daughter with short stature and dyslalia.

Stankiewicz P, Thiele H, Schlicker M, Cseke-Friedrich A, Bartel-Friedrich S, Yatsenko SA, Lupski JR, Hansmann I.

Am J Med Genet A. 2005 Sep 15;138(1):11-7.

PMID:
16097007
13.

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
14.

Phenotypic variability of a deletion and duplication 6q16.1 → q21 due to a paternal balanced ins(7;6)(p15;q16.1q21).

Spreiz A, Müller D, Zotter S, Albrecht U, Baumann M, Fauth C, Erdel M, Zschocke J, Utermann G, Kotzot D.

Am J Med Genet A. 2010 Nov;152A(11):2762-7. doi: 10.1002/ajmg.a.33699.

PMID:
20954245
15.

Pure de-novo 5 Mb duplication at Xp11.22-p11.23 in a male: phenotypic and molecular characterization.

Bonnet C, Grégoire MJ, Brochet K, Raffo E, Leheup B, Jonveaux P.

J Hum Genet. 2006;51(9):815-21. Epub 2006 Aug 10.

PMID:
16900295
16.

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
17.

Deletion and duplication of 11p13-11p14: reciprocal aberrations derived from a paternal insertion.

Dolan M, Berry SA, Rubin KR, Hirsch B.

Am J Med Genet A. 2011 Nov;155A(11):2775-83. doi: 10.1002/ajmg.a.34232. Epub 2011 Sep 19.

PMID:
21932318
18.

Partial Xp11.23-p11.4 duplication with random X inactivation: clinical report and molecular cytogenetic characterization.

Monnot S, Giuliano F, Massol C, Fossoud C, Cossée M, Lambert JC, Karmous-Benailly H.

Am J Med Genet A. 2008 May 15;146A(10):1325-9. doi: 10.1002/ajmg.a.32238.

PMID:
18412111
19.

[Infrequent X chromosome abnormality and X-linked syndromic deafness].

Wang YJ, Shi XL, Nie JW, Ni B, Yin ZC, Dai HP.

Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2004 Oct;29(5):500-3. Chinese.

20.

Functional disomy of Xp including duplication of DAX1 gene with sex reversal due to t(X;Y)(p21.2;p11.3).

Sanlaville D, Vialard F, Thépot F, Vue-Droy L, Ardalan A, Nizard P, Corré A, Devauchelle B, Martin-Denavit T, Nouchy M, Malan V, Taillemite JL, Portnoï MF.

Am J Med Genet A. 2004 Jul 30;128A(3):325-30.

PMID:
15216557

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