Detalhe da pesquisa
1.
The emotional experience of mothers of children with haemophilia: maternal guilt, effective coping strategies and resilience within the haemophilia community.
Haemophilia
; 29(2): 513-520, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36719261
2.
The impact of concurrent X chromosome anomalies on diagnosis and bleeding phenotype in children with hemophilia: A single-institution case series.
Pediatr Blood Cancer
; 70(7): e30400, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37132158
3.
Histone Modifier Genes Alter Conotruncal Heart Phenotypes in 22q11.2 Deletion Syndrome.
Am J Hum Genet
; 97(6): 869-77, 2015 Dec 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26608785
4.
Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome.
Am J Hum Genet
; 96(5): 753-64, 2015 May 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-25892112
5.
Examining the Overlap between Autism Spectrum Disorder and 22q11.2 Deletion Syndrome.
Int J Mol Sci
; 18(5)2017 May 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-28524075
6.
Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome.
Hum Genet
; 135(3): 273-85, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26742502
7.
Enhanced maternal origin of the 22q11.2 deletion in velocardiofacial and DiGeorge syndromes.
Am J Hum Genet
; 92(3): 439-47, 2013 Mar 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-23453669
8.
Compound heterozygous mutations in NEK8 in siblings with end-stage renal disease with hepatic and cardiac anomalies.
Am J Med Genet A
; 170(3): 750-3, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26697755
9.
Whole-Genome Sequencing and Integrative Genomic Analysis Approach on Two 22q11.2 Deletion Syndrome Family Trios for Genotype to Phenotype Correlations.
Hum Mutat
; 36(8): 797-807, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25981510
10.
The effect of hypocalcemia in early childhood on autism-related social and communication skills in patients with 22q11 deletion syndrome.
Eur Arch Psychiatry Clin Neurosci
; 265(6): 519-24, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25267002
11.
Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes.
Genome Res
; 21(1): 33-46, 2011 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21205869
12.
Severe aortopathy due to fibulin-4 deficiency: molecular insights, surgical strategy, and a review of the literature.
Eur J Pediatr
; 173(5): 671-5, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24276535
13.
Association of IL-12p70 and IL-6:IL-10 ratio with autism-related behaviors in 22q11.2 deletion syndrome: a preliminary report.
Brain Behav Immun
; 31: 76-81, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23353117
14.
Overt cleft palate phenotype and TBX1 genotype correlations in velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients.
Am J Med Genet A
; 158A(11): 2781-7, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23034814
15.
Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients.
Hum Mutat
; 32(11): 1278-89, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21796729
16.
Chromosome 22q11.2 deletion syndrome in African-American patients: a diagnostic challenge.
Am J Med Genet A
; 155A(9): 2186-95, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21834039
17.
Preaxial hallucal polydactyly as a marker for diabetic embryopathy.
Birth Defects Res A Clin Mol Teratol
; 85(1): 13-9, 2009 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-18798547
18.
Sclerocornea associated with the chromosome 22q11.2 deletion syndrome.
Am J Med Genet A
; 146A(7): 904-9, 2008 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-18324686
19.
Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the GPR98 Locus on 5q14.3.
Circ Cardiovasc Genet
; 10(5)2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-29025761
20.
Deletion of chromosome 22q11.2 and outcome in patients with pulmonary atresia and ventricular septal defect.
Ann Thorac Surg
; 76(2): 567-71, 2003 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-12902105