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Ana Beatriz Alvarez Perez

Research Profile

Geographic Areas

Brazil

Chemicals & Drugs

Disorders

Living Beings

Physiology

Mutation

Concepts & Ideas

Phenomena

Polymorphism, Single-Stranded Conformational

Procedures

DNA Mutational Analysis

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Publications

TOP 3
Luciana Rodrigues Jacy da Silva; Carlos Eugênio Fernandez de Andrade; Maria Isabel Melaragno; Mariana Moysés Oliveira; Mileny Esbravatti Stephano Colovati; Bruno Coprerski; Salmo Raskin; Edmar Zanoteli; Ana Beatriz Alvarez Perez
Spinal muscular atrophy due to a "de novo" 1.3Mb deletion: Implication for genetic counseling.
Carla Sustek D'Angelo; Cláudia Irene Emílio de Castro; Chong A Kim; Ilana Kohl; Charles Marques Lourenço; Ana Beatriz Alvarez Perez; Monica C Varela; Débora R Bertola; Célia P Koiffmann
Obesity with associated developmental delay and/or learning disability in patients exhibiting additional features: report of novel pathogenic copy number variants.
L V S Teixeira; K Lezirovitz; K L Mandelbaum; Lygia Pereira; Ana Beatriz Alvarez Perez
Candidate gene linkage analysis indicates genetic heterogeneity in Marfan syndrome.

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All Publications

2013: Luciana Rodrigues Jacy da Silva; Carlos Eugênio Fernandez de Andrade; Maria Isabel Melaragno; Mariana Moysés Oliveira; Mileny Esbravatti Stephano Colovati; Bruno Coprerski; Salmo Raskin; Edmar Zanoteli; Ana Beatriz Alvarez Perez
Spinal muscular atrophy due to a "de novo" 1.3Mb deletion: Implication for genetic counseling.
Neuromuscular disorders : NMD 2013;23(5):388-90.
2013: Carla Sustek D'Angelo; Cláudia Irene Emílio de Castro; Chong A Kim; Ilana Kohl; Charles Marques Lourenço; Ana Beatriz Alvarez Perez; Monica C Varela; Débora R Bertola; Célia P Koiffmann
Obesity with associated developmental delay and/or learning disability in patients exhibiting additional features: report of novel pathogenic copy number variants.
American journal of medical genetics. Part A 2013;161(3):479-86.
2011: L V S Teixeira; K Lezirovitz; K L Mandelbaum; Lygia Pereira; Ana Beatriz Alvarez Perez
Candidate gene linkage analysis indicates genetic heterogeneity in Marfan syndrome.
Brazilian journal of medical and biological research = Revista brasileira de pesquisas médicas e biológicas / Sociedade Brasileira de Biofísica ... [et al.] 2011;44(8):793-800.
2010: Pablo Domingos Rodrigues De Nicola; Mirlene Cecília Soares Pinho Cernach; Ana Beatriz Alvarez Perez; Decio Brunoni
[Use of the Internet to report congenital malformations on birth certificates at four public maternity hospitals in the city of São Paulo, Brazil].
Cadernos de saúde pública 2010;26(7):1383-90.
2010: Marianna P R Porto; Naja Vergani; Antonio Carlos C Carvalho; Mirlene C S P Cernach; Decio Brunoni; Ana Beatriz Alvarez Perez
Novel mutations in the TBX5 gene in patients with Holt-Oram Syndrome.
Genetics and molecular biology 2010;33(2):232-6.
2008: Nara Lygia Macena Sobreira; Mirlene Cecilia S P Cernach; Decio Brunoni; Ana Beatriz Alvarez Perez
Complex toe syndactyly with characteristic facial phenotype: a new syndrome?
American journal of medical genetics. Part A 2008;146A(13):1725-8.
2007: Helena Parente Solari; Marcelo Palis Ventura; Ana Beatriz Alvarez Perez; J M F Sallum; Miguel N Burnier; R Belfort
TGFBI gene mutations in Brazilian patients with corneal dystrophy.
Eye (London, England) 2007;21(5):587-90.
2006: Nara Lygia de Macena Sobreira; Decio Brunoni; Mirlene Cecília Soares Pinho Cernach; Ana Beatriz Alvarez Perez
Finlay-Marks (SEN) syndrome: a sporadic case and the delineation of the syndrome.
American journal of medical genetics. Part A 2006;140(3):300-2.
2005: Marianna P R Porto; Luciano C Galdieri; Vanessa G Pereira; Naja Vergani; José Cláudio C da Rocha; Cecília Micheletti; Ana Maria Martins; Ana Beatriz Alvarez Perez; Vânia D Almeida
Molecular analysis of homocystinuria in Brazilian patients.
Clinica chimica acta; international journal of clinical chemistry 2005;362(1-2):71-8.
2005: Victor Manuel Oporto Lopez; Ana Beatriz Alvarez Perez; Valdir Ambrósio Moisés; Lourdes Gomes; Patricia da Silveira Pedreira; Célia C Silva; Orlando Campos Filho; Antonio Carlos Camargo Carvalho
[Serial clinical and echocardiographic evaluation in children with Marfan syndrome].
Arquivos brasileiros de cardiologia 2005;85(5):314-8.
2005: Edmar Zanoteli; Jocelyn Laporte; José C C Rocha; Christine Kretz; Acary S B Oliveira; Jean-Louis Mandel; Ana Beatriz Alvarez Perez; Alberto A Gabbai; Anna Buj-Bello
Deletion of both MTM1 and MTMR1 genes in a boy with myotubular myopathy.
American journal of medical genetics. Part A 2005;134(3):338-40.
2004: Edelweiss F Tavares; João P B Vieira-Filho; Adagmar Andriolo; Ana Beatriz Alvarez Perez; Naja Vergani; Adriana Sañudo; Suely G A Gimeno; Laércio Joel Franco
Risk factors for heart disease.
Ethnicity & disease 2004;14(1):159.
2004: Edelweiss F Tavares; João P B Vieira-Filho; Adagmar Andriolo; Ana Beatriz Alvarez Perez; Naja Vergani; Adriana Sañudo; Suely G A Gimeno; Laércio Joel Franco
Serum total homocysteine levels and the prevalence of folic acid deficiency and C677T mutation at the MTHFR gene in an indigenous population of Amazonia: the relationship of homocysteine with other cardiovascular risk factors.
Ethnicity & disease 2004;14(1):49-56.
2003: P J F Martins; Vânia D'Almeida; Naja Vergani; Ana Beatriz Alvarez Perez; Sergio Tufik
Increased plasma homocysteine levels in shift working bus drivers.
Occupational and environmental medicine 2003;60(9):662-6.
2003: Ana Beatriz Alvarez Perez; Vânia D'Almeida; Naja Vergani; Allan C de Oliveira; Fernanda Teresa de Lima; Decio Brunoni
Methylenetetrahydrofolate reductase (MTHFR): incidence of mutations C677T and A1298C in Brazilian population and its correlation with plasma homocysteine levels in spina bifida.
American journal of medical genetics. Part A 2003;119A(1):20-5.
1999: Ana Beatriz Alvarez Perez; Lygia Pereira; Decio Brunoni; M Zatz; Maria Rita Passos-Bueno
Identification of 8 new mutations in Brazilian families with Marfan syndrome. Mutations in brief no. 211. Online.
Human mutation 1999;13(1):84.
1993: Claudette H Gonzalez; F R Vargas; Ana Beatriz Alvarez Perez; Chong A Kim; Decio Brunoni; Maria Joaquina Marques-Dias; C R Leone; J Correa Neto; J C Llerena Júnior; J C de Almeida
Limb deficiency with or without Möbius sequence in seven Brazilian children associated with misoprostol use in the first trimester of pregnancy.
American journal of medical genetics 1993;47(1):59-64.