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Items: 1 to 20 of 123

1.

Combined Dup(7)(q22.1q32.2), Inv(7)(q31.31q31.33), and Ins(7;19)(q22.1;p13.2p13.2) in a 12-year-old boy with developmental delay and various dysmorphism.

Frühmesser A, Erdel M, Duba HC, Fauth C, Amberger A, Utermann G, Zschocke J, Kotzot D.

Eur J Med Genet. 2013 Jul;56(7):383-8. doi: 10.1016/j.ejmg.2013.04.003. Epub 2013 Apr 19.

PMID:
23608969
2.

A new case of pure partial 7q duplication.

Alfonsi M, Palka C, Morizio E, Gatta V, Franchi S, Guanciali Franchi P, Zori R, Calabrese G, Palka G, Chiarelli F.

Cytogenet Genome Res. 2012;136(1):1-5. doi: 10.1159/000334111. Epub 2011 Nov 12.

PMID:
22086126
3.

M-banding characterization of a 16p11.2p13.1 tandem duplication in a child with autism, neurodevelopmental delay and dysmorphism.

Behjati F, Shafaghati Y, Firouzabadi SG, Kahrizi K, Bagherizadeh I, Najmabadi H, Bint S, Ogilvie C.

Eur J Med Genet. 2008 Nov-Dec;51(6):608-14. doi: 10.1016/j.ejmg.2008.06.007. Epub 2008 Jul 12.

PMID:
18674645
4.

De novo dup(7)(q21q22.2) and cytogenetics of 7q21q34 duplications.

Rivera H.

Genet Couns. 2013;24(3):291-7.

PMID:
24341144
5.

Interstitial deletion of chromosome 10, del(10) (q11.2q22.1) in a boy with developmental delay and multiple congenital anomalies.

Zenger-Hain JL, Roberson J, Van Dyke DL, Weiss L.

Am J Med Genet. 1993 Jun 1;46(4):438-40.

PMID:
7689299
6.

A case with de novo interstitial deletion of chromosome 7q21.1-q22.

Manguoğlu E, Berker-Karaüzüm S, Baumer A, Mihçi E, Taçoy S, Lüleci G, Schinzel A.

Genet Couns. 2005;16(2):155-9.

PMID:
16080295
7.

Cytogenetic and molecular identification of a de novo direct duplication of the long arm of chromosome 4(q21.3-->q31.3).

Jeziorowska A, Ciesla W, Houck GE Jr, Yao XL, Harris MS, Truszczak B, Skorski M, Jakubowski L, Jenkins EC, Kaluzewski B.

Am J Med Genet. 1993 Apr 1;46(1):83-7. Review.

PMID:
7684191
8.
9.

Bilateral radial agenesis with absent thumbs, complex heart defect, short stature, and facial dysmorphism in a patient with pure distal microduplication of 5q35.2-5q35.3.

Jamsheer A, Sowińska A, Simon D, Jamsheer-Bratkowska M, Trzeciak T, Latos-Bieleńska A.

BMC Med Genet. 2013 Jan 24;14:13. doi: 10.1186/1471-2350-14-13.

10.

Complex chromosome 17p rearrangements associated with low-copy repeats in two patients with congenital anomalies.

Vissers LE, Stankiewicz P, Yatsenko SA, Crawford E, Creswick H, Proud VK, de Vries BB, Pfundt R, Marcelis CL, Zackowski J, Bi W, van Kessel AG, Lupski JR, Veltman JA.

Hum Genet. 2007 Jul;121(6):697-709. Epub 2007 Apr 25.

11.

A balanced de novo inv(7)(p14.3q22.3) disrupting PDE1C and ATXN7L1 in a 14-year old developmentally delayed boy.

Gamage TH, Misceo D, Fannemel M, Frengen E.

Eur J Med Genet. 2013 Jul;56(7):361-4. doi: 10.1016/j.ejmg.2013.04.005. Epub 2013 May 9.

PMID:
23664928
13.

Familial tandem duplication of bands q31.1 to q32.3 on chromosome 4 with mild phenotypic effect.

Goodman BK, Capone GT, Hennessey J, Thomas GH.

Am J Med Genet. 1997 Dec 12;73(2):119-24.

PMID:
9409859
14.

De novo MECP2 duplication derived from paternal germ line result in dysmorphism and developmental delay.

Lin DS, Chuang TP, Chiang MF, Ho CS, Hsiao CD, Huang YW, Wu TY, Wu JY, Chen YT, Chen TC, Li LH.

Gene. 2014 Jan 1;533(1):78-85. doi: 10.1016/j.gene.2013.10.001. Epub 2013 Oct 12.

PMID:
24129071
15.

De novo duplication (5)(q31.3q33.3): report of a patient and characterization of the duplicated region using microdissection and FISH.

Sanchez-Garcia JF, de Die-Smulders CE, Weber JW, Jetten AG, Loneus WH, Hamers AJ, Engelen JJ.

Am J Med Genet. 2001 Apr 15;100(1):56-61. Review.

PMID:
11337750
16.

Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation.

Frühmesser A, Blake J, Haberlandt E, Baying B, Raeder B, Runz H, Spreiz A, Fauth C, Benes V, Utermann G, Zschocke J, Kotzot D.

Eur J Hum Genet. 2013 Oct;21(10):1177-80. doi: 10.1038/ejhg.2013.18. Epub 2013 Feb 20.

17.

Inverted duplication with terminal deletion of 5p and no cat-like cry.

Wang JC, Coe BP, Lomax B, MacLeod PM, Parslow MI, Schein JE, Lam WL, Eydoux P.

Am J Med Genet A. 2008 May 1;146A(9):1173-9. doi: 10.1002/ajmg.a.32246.

PMID:
18266247
18.
19.

Complex rearrangement involving 9p deletion and duplication in a syndromic patient: genotype/phenotype correlation and review of the literature.

Recalcati MP, Bellini M, Norsa L, Ballarati L, Caselli R, Russo S, Larizza L, Giardino D.

Gene. 2012 Jul 1;502(1):40-5. doi: 10.1016/j.gene.2012.04.030. Epub 2012 Apr 17. Review.

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