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Items: 1 to 20 of 91

1.

Array-CGH analysis in a patient with WAGR syndrome and a reciprocal translocation t(2;11) inherited from the normal father with double translocation.

Gimelli S, Divizia MT, Lerone M, Bricco L, Béna F, Antonarakis SE, Ravazzolo R, Gimelli G.

Am J Med Genet A. 2010 Aug;152A(8):2130-3. doi: 10.1002/ajmg.a.33517. No abstract available.

PMID:
20635368
2.

Characterization of 11p14-p12 deletion in WAGR syndrome by array CGH for identifying genes contributing to mental retardation and autism.

Xu S, Han JC, Morales A, Menzie CM, Williams K, Fan YS.

Cytogenet Genome Res. 2008;122(2):181-7. doi: 10.1159/000172086. Epub 2008 Dec 18. Erratum in: Cytogenet Genome Res. 2009;124(1):112.

PMID:
19096215
3.
4.

Intragenic breakpoints localized by array CGH in a t(2;6) familial translocation.

Bernheim A, Toujani S, Guillaud-Bataille M, Richon C, Waxin H, Dessen P, Berger R.

Cytogenet Genome Res. 2007;119(3-4):185-90. doi: 10.1159/000112059. Epub 2008 Feb 1.

PMID:
18253027
5.

[WAGR syndrome: a case report].

Moreno García M, Sánchez del Pozo J, Fernández Martínez FJ, Moreno-Izquierdo A, Barreiro Miranda E.

An Esp Pediatr. 1998 Oct;49(4):381-7. Spanish.

PMID:
9859552
6.

Partial trisomy 1q41 syndrome delineated by whole genomic array comparative genome hybridization.

Shin YB, Nam SO, Seo EJ, Kim HH, Chang CL, Lee EY, Son HC, Hwang SH.

J Korean Med Sci. 2008 Dec;23(6):1097-101. doi: 10.3346/jkms.2008.23.6.1097. Epub 2008 Dec 24.

7.

Cytogenetic, FISH and array-CGH characterization of a complex chromosomal rearrangement carried by a mentally and language impaired patient.

Ballarati L, Recalcati MP, Bedeschi MF, Lalatta F, Valtorta C, Bellini M, Finelli P, Larizza L, Giardino D.

Eur J Med Genet. 2009 Jul-Aug;52(4):218-23. doi: 10.1016/j.ejmg.2009.02.004. Epub 2009 Feb 21.

PMID:
19236961
8.

WAGR(O?) syndrome and congenital ptosis caused by an unbalanced t(11;15)(p13;p11.2)dn demonstrating a 7 megabase deletion by FISH.

Lennon PA, Scott DA, Lonsdorf D, Wargowski DS, Kirkpatrick S, Patel A, Cheung SW.

Am J Med Genet A. 2006 Jun 1;140(11):1214-8.

PMID:
16646034
9.

Prader-Willi syndrome resulting from an unbalanced translocation: characterization by array comparative genomic hybridization.

Klein OD, Cotter PD, Albertson DG, Pinkel D, Tidyman WE, Moore MW, Rauen KA.

Clin Genet. 2004 Jun;65(6):477-82.

PMID:
15151506
11.

Molecular cytogenetic characterisation of a complex 46,XY,t(7;8;11;13) chromosome rearrangement in a patient with Moebius syndrome.

Borck G, Wirth J, Hardt T, Tönnies H, Brøndum-Nielsen K, Bugge M, Tommerup N, Nothwang HG, Ropers HH, Haaf T.

J Med Genet. 2001 Feb;38(2):117-21. No abstract available.

12.
13.

15q duplication associated with autism in a multiplex family with a familial cryptic translocation t(14;15)(q11.2;q13.3) detected using array-CGH.

Koochek M, Harvard C, Hildebrand MJ, Van Allen M, Wingert H, Mickelson E, Holden JJ, Rajcan-Separovic E, Lewis ME.

Clin Genet. 2006 Feb;69(2):124-34.

PMID:
16433693
14.

A complex medical phenotype in a patient with triplication of 2q12.3 to 2q13 characterized with oligonucleotide array CGH.

Mercer CL, Browne CE, Barber JC, Maloney VK, Huang S, Thomas NS, Foulds N, MacLachlan N.

Cytogenet Genome Res. 2009;124(2):179-86. doi: 10.1159/000207526. Epub 2009 May 5. Erratum in: Cytogenet Genome Res. 2009;126(4):367. MacLachlan, N [added].

PMID:
19420931
15.

MLL is involved in a t(2;11)(p21;q23) in a patient with acute myeloblastic leukemia.

Fleischman EW, Reshmi S, Frenkel MA, Konovalova WI, Guleva GP, Kulagina OE, Konstantinova LN, Tupitsyn NN, Rowley JD.

Genes Chromosomes Cancer. 1999 Feb;24(2):151-5.

PMID:
9885982
16.

New complex t(2;11;17)(p21;q23;q11), a variant form of t(2;11), associated with del(5)(q23q32) in myelodysplastic syndrome-derived acute myeloblastic leukemia.

Yamamoto K, Nagata K, Morita Y, Inagaki K, Hamaguchi H.

Cancer Genet Cytogenet. 2002 Sep;137(2):119-23. Review.

PMID:
12393282
17.

Disruption of sodium bicarbonate transporter SLC4A10 in a patient with complex partial epilepsy and mental retardation.

Gurnett CA, Veile R, Zempel J, Blackburn L, Lovett M, Bowcock A.

Arch Neurol. 2008 Apr;65(4):550-3. doi: 10.1001/archneur.65.4.550.

PMID:
18413482
18.

Familial cryptic translocation (2;17) ascertained through recurrent spontaneous abortions.

Bruyere H, Rajcan-Separovic E, Doyle J, Pantzar T, Langlois S.

Am J Med Genet A. 2003 Dec 15;123A(3):285-9.

PMID:
14608651
19.

Genomic DNA-chip hybridization in t(11;14)-positive mantle cell lymphomas shows a high frequency of aberrations and allows a refined characterization of consensus regions.

Kohlhammer H, Schwaenen C, Wessendorf S, Holzmann K, Kestler HA, Kienle D, Barth TF, Möller P, Ott G, Kalla J, Radlwimmer B, Pscherer A, Stilgenbauer S, Döhner H, Lichter P, Bentz M.

Blood. 2004 Aug 1;104(3):795-801. Epub 2004 Apr 13.

20.

Array-based comparative genomic hybridization characterizes a deletion associated with a t(15;17) in acute promyelocytic leukemia.

Dolan M, Peterson B, Hirsch B.

Am J Clin Pathol. 2008 Nov;130(5):818-23. doi: 10.1309/AJCPENMUI47OGKRW.

PMID:
18854276

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