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1.
A Novel Homozygous Deletion within the FRY Gene Associated with Nonsyndromic Developmental Delay.
Cytogenet Genome Res
; 159(1): 19-25, 2019.
Artículo
en Inglés
| MEDLINE | ID: mdl-31487712
2.
Copy number variant discrepancy resolution using the ClinGen dosage sensitivity map results in updated clinical interpretations in ClinVar.
Hum Mutat
; 39(11): 1650-1659, 2018 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-30095202
3.
Yield of additional genetic testing after chromosomal microarray for diagnosis of neurodevelopmental disability and congenital anomalies: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 20(10): 1105-1113, 2018 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-29915380
4.
Chromosomal microarray versus karyotyping for prenatal diagnosis.
N Engl J Med
; 367(23): 2175-84, 2012 Dec 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-23215555
5.
Clinical features associated with copy number variations of the 14q32 imprinted gene cluster.
Am J Med Genet A
; 167A(2): 345-53, 2015 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-25756153
6.
Recurrence, submicroscopic complexity, and potential clinical relevance of copy gains detected by array CGH that are shown to be unbalanced insertions by FISH.
Genome Res
; 21(4): 535-44, 2011 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-21383316
7.
Xq28 duplication overlapping the int22h-1/int22h-2 region and including RAB39B and CLIC2 in a family with intellectual and developmental disability.
Am J Med Genet A
; 164A(7): 1795-801, 2014 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-24700761
8.
Recurrent HERV-H-mediated 3q13.2-q13.31 deletions cause a syndrome of hypotonia and motor, language, and cognitive delays.
Hum Mutat
; 34(10): 1415-23, 2013 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-23878096
9.
MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways.
Neurogenetics
; 14(2): 99-111, 2013 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-23389741
10.
ACMG Standards and Guidelines for constitutional cytogenomic microarray analysis, including postnatal and prenatal applications: revision 2013.
Genet Med
; 15(11): 901-9, 2013 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-24071793
11.
8p23.1 duplication syndrome; common, confirmed, and novel features in six further patients.
Am J Med Genet A
; 161A(3): 487-500, 2013 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-23345203
12.
Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features.
Hum Mutat
; 33(4): 728-40, 2012 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-22290657
13.
Genotype-phenotype correlation in interstitial 6q deletions: a report of 12 new cases.
Neurogenetics
; 13(1): 31-47, 2012 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-22218741
14.
High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44.
Hum Genet
; 131(1): 145-56, 2012 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-21800092
15.
Defining the impact of maternal cell contamination on the interpretation of prenatal microarray analysis.
Genet Med
; 14(11): 914-21, 2012 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-22766610
16.
Copy number variants of schizophrenia susceptibility loci are associated with a spectrum of speech and developmental delays and behavior problems.
Genet Med
; 13(10): 868-80, 2011 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-21792059
17.
Microdeletion 20p12.3 involving BMP2 contributes to syndromic forms of cleft palate.
Am J Med Genet A
; 155A(7): 1646-53, 2011 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-21671386
18.
Deletions and duplications of developmental pathway genes in 5q31 contribute to abnormal phenotypes.
Am J Med Genet A
; 155A(8): 1906-16, 2011 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-21744490
19.
The development of a rapid assay for prenatal testing of common aneuploidies and microdeletion syndromes.
Prenat Diagn
; 31(8): 778-87, 2011 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-21692086
20.
Whole-genome microarray analysis in prenatal specimens identifies clinically significant chromosome alterations without increase in results of unclear significance compared to targeted microarray.
Prenat Diagn
; 29(12): 1156-66, 2009 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-19795450