Search details
1.
The impact of clinical genome sequencing in a global population with suspected rare genetic disease.
Am J Hum Genet
; 2024 Jun 03.
Article
in English
| MEDLINE | ID: mdl-38843839
2.
Genome sequencing detects a balanced pericentric inversion with breakpoints that impact the DMD and upstream region of POU3F4 genes.
Am J Med Genet A
; 194(3): e63462, 2024 Mar.
Article
in English
| MEDLINE | ID: mdl-37929330
3.
Dental Pulp Stem Cells Model Early Life and Imprinted DNA Methylation Patterns.
Stem Cells
; 35(4): 981-988, 2017 04.
Article
in English
| MEDLINE | ID: mdl-28032673
4.
Association study of DRD3 gene in schizophrenia in Mexican sib-pairs.
Psychiatry Res
; 190(2-3): 367-8, 2011 Dec 30.
Article
in English
| MEDLINE | ID: mdl-21737144
5.
Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease: A Randomized Clinical Trial.
JAMA Pediatr
; 175(12): 1218-1226, 2021 12 01.
Article
in English
| MEDLINE | ID: mdl-34570182
6.
Significant transcriptional changes in 15q duplication but not Angelman syndrome deletion stem cell-derived neurons.
Mol Autism
; 9: 6, 2018.
Article
in English
| MEDLINE | ID: mdl-29423132
7.
Association study of MAO-A and DRD4 genes in schizophrenic patients with aggressive behavior.
Neuropsychobiology
; 55(3-4): 171-5, 2007.
Article
in English
| MEDLINE | ID: mdl-17657171
8.
Multisite Semiautomated Clinical Data Repository for Duplication 15q Syndrome: Study Protocol and Early Uses.
JMIR Res Protoc
; 6(10): e194, 2017 Oct 18.
Article
in English
| MEDLINE | ID: mdl-29046268
9.
Identification of novel candidate disease genes from de novo exonic copy number variants.
Genome Med
; 9(1): 83, 2017 09 21.
Article
in English
| MEDLINE | ID: mdl-28934986
10.
A Rare Inherited 15q11.2-q13.1 Interstitial Duplication with Maternal Somatic Mosaicism, Renal Carcinoma, and Autism.
Front Genet
; 7: 205, 2016.
Article
in English
| MEDLINE | ID: mdl-27933089
11.
An 8q21 deletion in a patient with comorbid psychosis and mental retardation.
CNS Spectr
; 10(11): 864-6, 2005 Nov.
Article
in English
| MEDLINE | ID: mdl-16273013
12.
Assessment of the Tumorigenic Potential of Spontaneously Immortalized and hTERT-Immortalized Cultured Dental Pulp Stem Cells.
Stem Cells Transl Med
; 4(8): 905-12, 2015 Aug.
Article
in English
| MEDLINE | ID: mdl-26032749
13.
Characterization of neurons from immortalized dental pulp stem cells for the study of neurogenetic disorders.
Stem Cell Res
; 15(3): 722-730, 2015 Nov.
Article
in English
| MEDLINE | ID: mdl-26599327
14.
The interstitial duplication 15q11.2-q13 syndrome includes autism, mild facial anomalies and a characteristic EEG signature.
Autism Res
; 6(4): 268-79, 2013 Aug.
Article
in English
| MEDLINE | ID: mdl-23495136
15.
Increased copy number for methylated maternal 15q duplications leads to changes in gene and protein expression in human cortical samples.
Mol Autism
; 2(1): 19, 2011 Dec 12.
Article
in English
| MEDLINE | ID: mdl-22152151
16.
A single-tube quantitative high-resolution melting curve method for parent-of-origin determination of 15q duplications.
Genet Test Mol Biomarkers
; 14(4): 571-6, 2010 Aug.
Article
in English
| MEDLINE | ID: mdl-20642357
17.
Attitudes and anticipated reactions to genetic testing for cancer among patients in Mexico City.
Genet Test Mol Biomarkers
; 13(4): 477-83, 2009 Aug.
Article
in English
| MEDLINE | ID: mdl-19594367
18.
Patient follow-up is a major problem at genetics clinics.
Am J Med Genet A
; 125A(2): 162-6, 2004 Mar 01.
Article
in English
| MEDLINE | ID: mdl-14981717
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