Detalhe da pesquisa
1.
Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities.
Genet Med
; 25(1): 135-142, 2023 01.
Artigo
Inglês
| MEDLINE | ID: mdl-36399134
2.
Hypotrichosis-lymphedema-telangiectasia syndrome: Report of ileal atresia associated with a SOX18 de novo pathogenic variant and review of the phenotypic spectrum.
Am J Med Genet A
; 185(7): 2153-2159, 2021 07.
Artigo
Inglês
| MEDLINE | ID: mdl-33851505
3.
An immune tolerance approach using transient low-dose methotrexate in the ERT-naïve setting of patients treated with a therapeutic protein: experience in infantile-onset Pompe disease.
Genet Med
; 21(4): 887-895, 2019 04.
Artigo
Inglês
| MEDLINE | ID: mdl-30214072
4.
Phenotypic heterogeneity of genomic disorders and rare copy-number variants.
N Engl J Med
; 367(14): 1321-31, 2012 Oct 04.
Artigo
Inglês
| MEDLINE | ID: mdl-22970919
5.
Familial ebstein anomaly, left ventricular hypertrabeculation, and ventricular septal defect associated with a MYH7 mutation.
Am J Med Genet A
; 161A(12): 3187-90, 2013 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-23956225
6.
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.
Artigo
Inglês
| MEDLINE | ID: mdl-21800092
7.
Distinctive phenotype in 9 patients with deletion of chromosome 1q24-q25.
Am J Med Genet A
; 155A(6): 1336-51, 2011 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-21548129
8.
Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy.
J Clin Invest
; 131(5)2021 03 01.
Artigo
Inglês
| MEDLINE | ID: mdl-33645542
9.
Clinical spectrum of POLR3-related leukodystrophy caused by biallelic POLR1C pathogenic variants.
Neurol Genet
; 5(6): e369, 2019 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-32042905
10.
Clinical and Molecular Characteristics of Mitochondrial Dysfunction in Autism Spectrum Disorder.
Mol Diagn Ther
; 22(5): 571-593, 2018 10.
Artigo
Inglês
| MEDLINE | ID: mdl-30039193
11.
Primary Mitochondrial Disease and Secondary Mitochondrial Dysfunction: Importance of Distinction for Diagnosis and Treatment.
Mol Syndromol
; 7(3): 122-37, 2016 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-27587988
12.
Reductions in interhemispheric motor cortex functional connectivity after muscle fatigue.
Brain Res
; 1057(1-2): 10-6, 2005 Sep 28.
Artigo
Inglês
| MEDLINE | ID: mdl-16140287
13.
Assessing low-frequency repetitive transcranial magnetic stimulation with functional magnetic resonance imaging: a case series.
Physiother Res Int
; 19(2): 117-25, 2014 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-21766399
14.
A newborn with congenital complete atrioventricular block, lissencephaly, and skeletal abnormalities: a case of suspected cytomegalovirus infection.
Congenit Heart Dis
; 5(5): 486-90, 2010.
Artigo
Inglês
| MEDLINE | ID: mdl-21087439
15.
An unusual cardiac defect in a patient with clinical features overlapping between cardiofaciocutaneous and Noonan syndromes.
Congenit Heart Dis
; 5(1): 70-5, 2010.
Artigo
Inglês
| MEDLINE | ID: mdl-20136862
16.
Laryngeal and tracheal anomalies in an infant with oral-facial-digital syndrome type VI (Váradi-Papp): report of a transitional type.
Pediatr Radiol
; 38(9): 994-8, 2008 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-18478222
17.
Genotype/phenotype correlations in two patients with 12q subtelomere deletions.
Am J Med Genet A
; 143A(22): 2700-5, 2007 Nov 15.
Artigo
Inglês
| MEDLINE | ID: mdl-17937441
18.
Heart transplantation for a patient with Kearns-Sayre syndrome and end-stage heart failure.
Congest Heart Fail
; 17(2): 102-4, 2011.
Artigo
Inglês
| MEDLINE | ID: mdl-21450000