Detalles de la búsqueda
1.
Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements.
Cell
; 146(6): 889-903, 2011 Sep 16.
Artículo
en Inglés
| MEDLINE | ID: mdl-21925314
2.
Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes.
Genome Res
; 21(1): 33-46, 2011 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-21205869
3.
Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications.
Hum Mol Genet
; 20(10): 1975-88, 2011 May 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-21355048
4.
Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats.
Hum Mutat
; 33(1): 165-79, 2012 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-21948486
5.
Mixed gonadal dysgenesis in a child with isodicentric Y chromosome: Does the relative proportion of the 45,X line really matter?
Am J Med Genet A
; 152A(7): 1832-7, 2010 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-20583182
6.
Insertional translocation detected using FISH confirmation of array-comparative genomic hybridization (aCGH) results.
Am J Med Genet A
; 152A(5): 1111-26, 2010 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-20340098
7.
Intragenic rearrangements in NRXN1 in three families with autism spectrum disorder, developmental delay, and speech delay.
Am J Med Genet B Neuropsychiatr Genet
; 153B(5): 983-93, 2010 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-20162629
8.
Branchiootorenal syndrome and oculoauriculovertebral spectrum features associated with duplication of SIX1, SIX6, and OTX2 resulting from a complex chromosomal rearrangement.
Am J Med Genet A
; 146A(19): 2480-9, 2008 Oct 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-18666230
9.
De novo and complex imbalanced chromosomal rearrangements revealed by array CGH in a patient with an abnormal phenotype and apparently "balanced" paracentric inversion of 14(q21q23).
Am J Med Genet A
; 146A(15): 1986-93, 2008 Aug 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-18627051
10.
Mosaic tetrasomy 12p with triplication of 12p detected by array-based comparative genomic hybridization of peripheral blood DNA.
Am J Med Genet A
; 143A(24): 2910-5, 2007 Dec 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-18000900
11.
Mosaicism for r(X) and der(X)del(X)(p11.23)dup(X)(p11.21p11.22) provides insight into the possible mechanism of rearrangement.
Mol Cytogenet
; 1: 16, 2008 Jul 25.
Artículo
en Inglés
| MEDLINE | ID: mdl-18655707
12.
Chromosomal microarray analysis (CMA) detects a large X chromosome deletion including FMR1, FMR2, and IDS in a female patient with mental retardation.
Am J Med Genet A
; 143A(12): 1358-65, 2007 Jun 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-17506108
13.
Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases.
PLoS One
; 2(3): e327, 2007 Mar 28.
Artículo
en Inglés
| MEDLINE | ID: mdl-17389918
14.
Cryptic unbalanced translocation t(17;18)(p13.2;q22.3) identified by subtelomeric FISH and defined by array-based comparative genomic hybridization in a patient with mental retardation and dysmorphic features.
Am J Med Genet A
; 137(1): 88-93, 2005 Aug 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-16015583
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