Detalhe da pesquisa
1.
tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.
Nat Genet
; 40(9): 1113-8, 2008 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-18711368
2.
Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome).
Nat Genet
; 37(12): 1345-50, 2005 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-16311597
3.
Short rib syndrome Beemer-Langer type, a short history.
Am J Med Genet A
; 176(1): 248-249, 2018 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-29130631
4.
Cognitive development in children with 22q11.2 deletion syndrome.
Br J Psychiatry
; 200(6): 462-8, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22661678
5.
Social Responsiveness Scale-aided analysis of the clinical impact of copy number variations in autism.
Neurogenetics
; 12(4): 315-23, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21837366
6.
A novel 6.14 Mb duplication of chromosome 8p21 in a patient with autism and self mutilation.
J Autism Dev Disord
; 39(2): 322-9, 2009 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-18696223
7.
Association of the PIK4CA schizophrenia-susceptibility gene in adults with the 22q11.2 deletion syndrome.
Am J Med Genet B Neuropsychiatr Genet
; 150B(3): 430-3, 2009 Apr 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-18646052
8.
Unmasking of a hemizygous WFS1 gene mutation by a chromosome 4p deletion of 8.3 Mb in a patient with Wolf-Hirschhorn syndrome.
Eur J Hum Genet
; 15(11): 1132-8, 2007 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-17637805
9.
Proportional growth failure and oculocutaneous albinism in a girl with a 6.87 Mb deletion of region 15q26.2-->qter.
Eur J Med Genet
; 50(6): 432-40, 2007.
Artigo
em Inglês
| MEDLINE | ID: mdl-17931990
10.
The 22q11.2 deletion in children: high rate of autistic disorders and early onset of psychotic symptoms.
J Am Acad Child Adolesc Psychiatry
; 45(9): 1104-1113, 2006 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-16926618
11.
Tailoring communication in cancer genetic counseling through individual video-supported feedback: a controlled pretest-posttest design.
Patient Educ Couns
; 60(3): 326-35, 2006 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-16024209
12.
Behavioral phenotype in children with 22q11DS: agreement between parents and teachers.
Psychol Assess
; 27(1): 272-9, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25436664
13.
Occurrence of deletion of a COL2A1 allele as the mutation in Stickler syndrome shows that a collagen type II dosage effect underlies this syndrome.
Hum Mutat
; 20(3): 236, 2002 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-12204008
14.
Glycerol kinase deficiency: residual activity explained by reduced transcription and enzyme conformation.
Eur J Hum Genet
; 12(6): 424-32, 2004 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-15026783
15.
Cognitive and behavioral trajectories in 22q11DS from childhood into adolescence: a prospective 6-year follow-up study.
Res Dev Disabil
; 34(9): 2937-45, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23816629
16.
A candidate gene approach to identify modifiers of the palatal phenotype in 22q11.2 deletion syndrome patients.
Int J Pediatr Otorhinolaryngol
; 77(1): 123-7, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23121717
17.
Morphological features in children with autism spectrum disorders: a matched case-control study.
J Autism Dev Disord
; 41(1): 23-31, 2011 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-20473590
18.
Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients.
Eur J Hum Genet
; 18(8): 872-80, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-20179744
19.
Proline affects brain function in 22q11DS children with the low activity COMT 158 allele.
Neuropsychopharmacology
; 34(3): 739-46, 2009 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-18769474
20.
Gene-network analysis identifies susceptibility genes related to glycobiology in autism.
PLoS One
; 4(5): e5324, 2009 May 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-19492091