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Ana Beatriz Alvarez Perez
Ana Beatriz Alvarez Perez
Professora Aposentada da Disciplina de Genética da Unifesp
Verified email at unifesp.br
Title
Cited by
Cited by
Year
A major lung cancer susceptibility locus maps to chromosome 6q23–25
JE Bailey-Wilson, CI Amos, SM Pinney, GM Petersen, M De Andrade, ...
The American Journal of Human Genetics 75 (3), 460-474, 2004
4452004
Limb deficiency with or without Möbius sequence in seven Brazilian children associated with misoprostol use in the first trimester of pregnancy
CH Gonzalez, FR Vargas, ABA Perez, CA Kim, D Brunoni, ...
American Journal of Medical Genetics 47 (1), 59-64, 1993
2481993
Marfan Database: new mutations and new routines for the software
G Collod-Béroud, C Béroud, L Ades, C Black, M Boxer, DJH Brock, ...
Nucleic Acids Research 26 (1), 229-233, 1998
1371998
Impact of 5-HTTLPR and BDNF polymorphisms on response to sertraline versus transcranial direct current stimulation: implications for the serotonergic system
AR Brunoni, AH Kemp, P Shiozawa, Q Cordeiro, LCL Valiengo, ...
European Neuropsychopharmacology 23 (11), 1530-1540, 2013
842013
Methylenetetrahydrofolate reductase (MTHFR): incidence of mutations C677T and A1298C in Brazilian population and its correlation with plasma homocysteine levels in spina bifida
ABA Perez, V D'Almeida, N Vergani, AC de Oliveira, FT de Lima, ...
American journal of medical genetics Part A 119 (1), 20-25, 2003
732003
Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities
N Sobreira, M Brucato, L Zhang, C Ladd-Acosta, C Ongaco, J Romm, ...
European Journal of Human Genetics 25 (12), 1335-1344, 2017
572017
Clinical and cytogenomic findings in OAV spectrum
S Bragagnolo, MES Colovati, MZ Souza, AG Dantas, MF F de Soares, ...
American journal of medical genetics Part A 176 (3), 638-648, 2018
512018
Increased plasma homocysteine levels in shift working bus drivers
PJF Martins, V D’almeida, N Vergani, ABA Perez, S Tufik
Occupational and Environmental Medicine 60 (9), 662-666, 2003
502003
A Brazilian cohort of individuals with Phelan-McDermid syndrome: genotype-phenotype correlation and identification of an atypical case
CI Samogy-Costa, E Varella-Branco, F Monfardini, H Ferraz, RA Fock, ...
Journal of neurodevelopmental disorders 11 (1), 1-10, 2019
432019
Chromosomal microarray analysis in the genetic evaluation of 279 patients with syndromic obesity
CS D’Angelo, MC Varela, CIE de Castro, PA Otto, ABA Perez, ...
Molecular Cytogenetics 11, 1-18, 2018
422018
A novel de novo mutation in MYT1, the unique OAVS gene identified so far
M Berenguer, A Tingaud-Sequeira, M Colovati, MI Melaragno, ...
European Journal of Human Genetics 25 (9), 1083-1086, 2017
422017
Duplication 9p and their implication to phenotype
RS Guilherme, VA Meloni, ABA Perez, AL Pilla, MAP de Ramos, ...
BMC Medical Genetics 15 (1), 1-8, 2014
372014
Obesity with associated developmental delay and/or learning disability in patients exhibiting additional features: report of novel pathogenic copy number variants
CS D'Angelo, I Kohl, MC Varela, CIE de Castro, CA Kim, DR Bertola, ...
American Journal of Medical Genetics Part A 161 (3), 479-486, 2013
342013
A utilização da Internet na notificação dos defeitos congênitos na Declaração de Nascido Vivo em quatro maternidades públicas do Município de São Paulo, Brasil
PDR Nicola, MCSP Cernach, ABA Perez, D Brunoni
Cadernos de Saúde Pública 26 (7), 1383-1390, 2010
292010
Causas genéticas, epigênicas e, ambientais do transtorno do espectro autista
TA Zanolla, RA Fock, E Perrone, AC Garcia, ABA Perez, D Brunoni
Cadernos de Pós-graduação em Distúrbios do Desenvolvimento 15 (2), 2015
272015
Genetic mechanisms leading to primary amenorrhea in balanced X-autosome translocations
M Moysés-Oliveira, R dos Santos Guilherme, AG Dantas, R Ueta, ...
Fertility and Sterility 103 (5), 1289-1296. e2, 2015
262015
Novel deletion of SERPINF1 causes autosomal recessive osteogenesis imperfecta type VI in two Brazilian families
R Moldenhauer Minillo, N Sobreira, M de Fatima de Faria Soares, ...
Molecular syndromology 5 (6), 268-275, 2014
242014
Serum Total Homocysteine Levels and the Prevalence of Folic Acid Deficiency and C677T Mutation at the MTHFR Gene in an Indigenous Population of Amazonia
EF Tavares, JPB Vieira-Filho, A Andriolo, ABA Perez, N Vergani, ...
Ethnicity & Disease 14 (1), 49-56, 2004
242004
Familial complex chromosome rearrangement ascertained by in situ hybridisation.
C Fuster, L Miguez, R Miro, MA Rigola, A Perez, J Egozcue
Journal of medical genetics 34 (2), 164-166, 1997
221997
Novel mutations in the TBX5 gene in patients with Holt-Oram syndrome
MPR Porto, N Vergani, ACC Carvalho, MCSP Cernach, D Brunoni, ...
Genetics and Molecular Biology 33, 232-236, 2010
202010
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