Detalhe da pesquisa
1.
Variants in Candidate Genes for Phenotype Heterogeneity in Patients with the 22q11.2 Deletion Syndrome.
Genet Res (Camb)
; 2024: 5549592, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38586596
2.
How are people with orofacial clefts attended in northwest region of São Paulo state, Brazil?
Genet Mol Biol
; 46(4): e20230167, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38112488
3.
Biallelic frameshift variant in the TBC1D2B gene in two siblings with progressive gingival overgrowth, fibrous dysplasia of face, and mental deterioration.
Clin Genet
; 102(6): 537-542, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36029130
4.
A Novel Look at Dosage-Sensitive Sex Locus Xp21.2 in a Case of 46,XY Partial Gonadal Dysgenesis without NR0B1 Duplication.
Int J Mol Sci
; 24(1)2022 Dec 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-36613932
5.
Increased runs of homozygosity in the autosomal genome of Brazilian individuals with neurodevelopmental delay/intellectual disability and/or multiple congenital anomalies investigated by chromosomal microarray analysis.
Genet Mol Biol
; 45(1): e20200480, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35238326
6.
Brazil's Craniofacial Project: Different approaches on orofacial clefts and 22q11.2 deletion syndrome.
Am J Med Genet C Semin Med Genet
; 184(4): 912-927, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33166033
7.
Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome.
Am J Hum Genet
; 98(5): 971-980, 2016 May 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27108797
8.
A recognizable phenotype related to 19p13.12 microdeletion.
Am J Med Genet A
; 176(8): 1753-1759, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30055032
9.
Application of high-resolution array platform for genome-wide copy number variation analysis in patients with nonsyndromic cleft lip and palate.
J Clin Lab Anal
; 32(6): e22428, 2018 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-29512191
10.
A boy with partial dup(18q)/del(18p) due to a maternal pericentric inversion: Genotype-phenotype correlation and risk of recombinant chromosomes based on systematic review of the literature.
Am J Med Genet A
; 173(1): 143-150, 2017 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-27633903
11.
Genotype-phenotype correlation of 16p13.3 terminal duplication and 22q13.33 deletion: Natural history of a patient and review of the literature.
Am J Med Genet A
; 170(3): 766-72, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26638882
12.
Investigation of genetic factors underlying typical orofacial clefts: mutational screening and copy number variation.
J Hum Genet
; 60(1): 17-25, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25391604
13.
Distal 22q11.2 microduplication combined with typical 22q11.2 proximal deletion: a case report.
Am J Med Genet A
; 167A(1): 215-20, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25358462
14.
Clinical, cytogenetic, and molecular characterization of six patients with ring chromosomes 22, including one with concomitant 22q11.2 deletion.
Am J Med Genet A
; 164A(7): 1659-65, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24700634
15.
Syndromic Retinitis Pigmentosa: A 15-Patient Study.
Genes (Basel)
; 15(4)2024 04 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38674450
16.
Variants in KMT2A in Three Individuals with Previous Suspicion of 22q11.2 Deletion Syndrome.
Genes (Basel)
; 15(2)2024 02 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38397201
17.
22q11.2 Deletion Syndrome: Influence of Parental Origin on Clinical Heterogeneity.
Genes (Basel)
; 15(4)2024 04 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38674452
18.
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
19.
Feeding Infants With Cleft Lip and/or Palate in Brazil: Suggestions to Improve Health Policy and Research.
Cleft Palate Craniofac J
; 50(5): 577-90, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23551075
20.
Local strategies to address health needs of individuals with orofacial clefts in alagoas, Brazil.
Cleft Palate Craniofac J
; 50(4): 424-31, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22236341