Detalhe da pesquisa
1.
Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes.
Am J Hum Genet
; 102(2): 309-320, 2018 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29394990
2.
UBA2 variants underlie a recognizable syndrome with variable aplasia cutis congenita and ectrodactyly.
Genet Med
; 23(9): 1624-1635, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34040189
3.
Expanding the clinical and genetic spectrum of ALPK3 variants: Phenotypes identified in pediatric cardiomyopathy patients and adults with heterozygous variants.
Am Heart J
; 225: 108-119, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32480058
4.
Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association.
Circulation
; 138(21): e653-e711, 2018 11 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-30571578
5.
Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.
Genet Med
; 21(3): 764-765, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30275510
6.
Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.
Genet Med
; 21(4): 867-876, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30190611
7.
Health-Related Quality of Life in Children and Young Adults with Marfan Syndrome.
J Pediatr
; 204: 250-255.e1, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30270167
8.
Emotional functioning among children with neurofibromatosis type 1 or Noonan syndrome.
Am J Med Genet A
; 179(12): 2433-2446, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31566897
9.
Cardiac transplantation in children with Noonan syndrome.
Pediatr Transplant
; 23(6): e13535, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31259454
10.
Mosaicism of the UDP-Galactose transporter SLC35A2 in a female causing a congenital disorder of glycosylation: a case report.
BMC Med Genet
; 19(1): 100, 2018 06 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29907092
11.
Cardiovascular disease in Noonan syndrome.
Curr Opin Pediatr
; 30(5): 601-608, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30024444
12.
Atenolol versus losartan in children and young adults with Marfan's syndrome.
N Engl J Med
; 371(22): 2061-71, 2014 Nov 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-25405392
13.
Variability in clinical and neuropsychological features of individuals with MAP2K1 mutations.
Am J Med Genet A
; 173(2): 452-459, 2017 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-27862862
14.
Retinal dystrophy in two boys with Costello syndrome due to the HRAS p.Gly13Cys mutation.
Am J Med Genet A
; 173(5): 1342-1347, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-28337834
15.
A specific mutation in TBL1XR1 causes Pierpont syndrome.
J Med Genet
; 53(5): 330-7, 2016 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-26769062
16.
Hereditary Angiopathy With Nephropathy, Aneurysm, and Muscle Cramps (HANAC) Syndrome Presenting to Neuro-Ophthalmology With Metamorphopsia.
J Neuroophthalmol
; 39(4): 506-510, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31453918
17.
Characteristics of children and young adults with Marfan syndrome and aortic root dilation in a randomized trial comparing atenolol and losartan therapy.
Am Heart J
; 165(5): 828-835.e3, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23622922
18.
The severe end of the spectrum: Hypoplastic left heart in Potocki-Lupski syndrome.
Am J Med Genet A
; 155A(2): 363-6, 2011 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-21271655
19.
A novel microdeletion/microduplication syndrome of 19p13.13.
Genet Med
; 12(8): 503-11, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-20613546
20.
Children with Thoracic Aortic Aneurysm: Challenges in Diagnosis and Therapy.
J Pediatr
; 167(1): 14-6, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25921440