Perez ABA - Search Results

1

Determining the frequency of morphological characteristics in a sample of Brazilian children.

Perrone E, Zanolla TA, Fock RA, Perez ABA, Brunoni D. Perrone E, et al. Among authors: perez aba. J Pediatr (Rio J). 2017 Nov-Dec;93(6):592-600. doi: 10.1016/j.jped.2016.12.010. Epub 2017 Jul 27. J Pediatr (Rio J). 2017. PMID: 28756062 Free article.

2

Methylenetetrahydrofolate reductase (MTHFR): incidence of mutations C677T and A1298C in Brazilian population and its correlation with plasma homocysteine levels in spina bifida.

Perez AB, D'Almeida V, Vergani N, de Oliveira AC, de Lima FT, Brunoni D. Perez AB, et al. Am J Med Genet A. 2003 May 15;119A(1):20-5. doi: 10.1002/ajmg.a.10059. Am J Med Genet A. 2003. PMID: 12707953

3

Finlay-Marks (SEN) syndrome: a sporadic case and the delineation of the syndrome.

Sobreira NL, Brunoni D, Cernach MC, Perez AB. Sobreira NL, et al. Am J Med Genet A. 2006 Feb 1;140(3):300-2. doi: 10.1002/ajmg.a.31063. Am J Med Genet A. 2006. PMID: 16411189 No abstract available.

4

Complex toe syndactyly with characteristic facial phenotype: a new syndrome?

Sobreira NL, Cernach MC, Brunoni D, Perez AB. Sobreira NL, et al. Am J Med Genet A. 2008 Jul 1;146A(13):1725-8. doi: 10.1002/ajmg.a.32377. Am J Med Genet A. 2008. PMID: 18512233

5

[Use of the Internet to report congenital malformations on birth certificates at four public maternity hospitals in the city of São Paulo, Brazil].

De Nicola PD, Cernach MC, Perez AB, Brunoni D. De Nicola PD, et al. Cad Saude Publica. 2010 Jul;26(7):1383-90. doi: 10.1590/s0102-311x2010000700017. Cad Saude Publica. 2010. PMID: 20694364 Free article. Portuguese.

6

A Brazilian cohort of individuals with Phelan-McDermid syndrome: genotype-phenotype correlation and identification of an atypical case.

Samogy-Costa CI, Varella-Branco E, Monfardini F, Ferraz H, Fock RA, Barbosa RHA, Pessoa ALS, Perez ABA, Lourenço N, Vibranovski M, Krepischi A, Rosenberg C, Passos-Bueno MR. Samogy-Costa CI, et al. Among authors: perez aba. J Neurodev Disord. 2019 Jul 18;11(1):13. doi: 10.1186/s11689-019-9273-1. J Neurodev Disord. 2019. PMID: 31319798 Free PMC article.

7

TRANSLATION, CULTURAL ADAPTATION, AND EVIDENCE OF INSTRUMENT VALIDITY FOR A MORPHOLOGICAL EXAMINATION PERFORMED IN CHILDREN WITH AUTISM SPECTRUM DISORDER.

Zanolla TA, Perrone E, Fock RA, Bordini D, Brentani HP, Perez ABA, Brunoni D. Zanolla TA, et al. Among authors: perez aba. Rev Paul Pediatr. 2020 Jan 13;38:e2018318. doi: 10.1590/1984-0462/2020/38/2018318. eCollection 2020. Rev Paul Pediatr. 2020. PMID: 31939516 Free PMC article.

8

Clinical and molecular evaluation of 13 Brazilian patients with Gomez-López-Hernández syndrome.

Perrone E, Perez ABA, D'Almeida V, de Mello CB, Jacobina MAA, Loureiro RM, Burlin S, Migliavacca M, do Amaral Virmond L, Graziadio C, Pedroso JL, Mendes EL, Gomy I, de Macena Sobreira NL. Perrone E, et al. Among authors: perez aba. Am J Med Genet A. 2021 Apr;185(4):1047-1058. doi: 10.1002/ajmg.a.62059. Epub 2020 Dec 31. Am J Med Genet A. 2021. PMID: 33381921

9

A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2.

Migliavacca MP, Fock RA, Almeida N, Cavalcanti T, Villela D, Perez ABA, Valle D, Wohler E, Sobreira NLM, Raskin S. Migliavacca MP, et al. Among authors: perez aba. Rev Paul Pediatr. 2023 Apr 7;41:e2022057. doi: 10.1590/1984-0462/2023/41/2022057. eCollection 2023. Rev Paul Pediatr. 2023. PMID: 37042943 Free PMC article.

10

Novel frameshift variant in gene SALL4 causing Okihiro syndrome.

Alves LU, Perez AB, Alonso LG, Otto PA, Mingroni-Netto RC. Alves LU, et al. Eur J Med Genet. 2016 Feb;59(2):80-5. doi: 10.1016/j.ejmg.2015.12.015. Epub 2016 Jan 11. Eur J Med Genet. 2016. PMID: 26791099 Free article.

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