Detalhe da pesquisa
1.
Overlapping Spectrum of Craniofacial Microsomia Phenotype in Cat-Eye Syndrome.
Cleft Palate Craniofac J
; : 10556656231174435, 2023 May 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-37183441
2.
Genomic imbalances in craniofacial microsomia.
Am J Med Genet C Semin Med Genet
; 184(4): 970-985, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33215817
3.
Echocardiographic study in children with osteogenesis imperfecta.
Cardiol Young
; 30(10): 1490-1495, 2020 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-32792038
4.
Difference between Methods for Estimation of Basal Metabolic Rate and Body Composition in Pediatric Patients with Osteogenesis Imperfecta.
Ann Nutr Metab
; 72(1): 21-29, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29268261
5.
A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defects.
Am J Hum Genet
; 94(1): 120-8, 2014 Jan 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-24360810
6.
Targeted Resequencing of Deafness Genes Reveals a Founder MYO15A Variant in Northeastern Brazil.
Ann Hum Genet
; 80(6): 327-331, 2016 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-27870113
7.
Genetic causes of intellectual disability in a birth cohort: a population-based study.
Am J Med Genet A
; 167(6): 1204-14, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25728503
8.
Quality of life in caregivers of children and adolescents with Osteogenesis Imperfecta.
Health Qual Life Outcomes
; 13: 41, 2015 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25889100
9.
Clinical Features in Patients With 22q11.2 Deletion Syndrome Ascertained by Palatal Abnormalities.
Cleft Palate Craniofac J
; 52(4): 411-6, 2015 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-24805874
10.
Anthropometry, nutritional status, and dietary intake in pediatric patients with osteogenesis imperfecta.
J Am Coll Nutr
; 33(1): 18-25, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24533604
11.
Defining new guidelines for screening the 22q11.2 deletion based on a clinical and dysmorphologic evaluation of 194 individuals and review of the literature.
Eur J Pediatr
; 172(7): 927-45, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23440478
12.
Periconceptional use of folic acid and risk of miscarriage - findings of the Oral Cleft Prevention Program in Brazil.
J Perinat Med
; 41(4): 461-6, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23669628
13.
Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.
JAMA Neurol
; 79(12): 1267-1276, 2022 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36315135
14.
Identification of genomic imbalances in oral clefts.
J Pediatr (Rio J)
; 97(3): 321-328, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-32707036
15.
Identification of Novel and Recurrent RMRP Variants in a Series of Brazilian Patients with Cartilage-Hair Hypoplasia: McKusick Syndrome.
Mol Syndromol
; 10(5): 255-263, 2020 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-32021596
16.
Reduced transcription of TCOF1 in adult cells of Treacher Collins syndrome patients.
BMC Med Genet
; 10: 136, 2009 Dec 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-20003452
17.
Medical sequencing of candidate genes for nonsyndromic cleft lip and palate.
PLoS Genet
; 1(6): e64, 2005 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-16327884
18.
Collagen I Defect Corneal Profiles in Osteogenesis Imperfecta.
Cornea
; 37(12): 1561-1565, 2018 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-30272615
19.
CranFlow: An Application for Record-Taking and Management Through the Brazilian Database on Craniofacial Anomalies.
Birth Defects Res
; 110(1): 72-80, 2018 01 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28949457
20.
Correction: Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients.
PLoS One
; 12(6): e0180463, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28640880