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Copy Number Variants in Obesity-Related Syndromes: Review and Perspectives on Novel Molecular Approaches.
Published in:
2012
By:
- D'Angelo, Carla Sustek;
- Koiffmann, Celia Priszkulnik
Publication type:
Journal Article
Copy Number Variants in Obesity-Related Syndromes: Review and Perspectives on Novel Molecular Approaches.
Published in:
Journal of Obesity, 2012, v. 2012, p. 1, doi. 10.1155/2012/845480
By:
- D'Angelo, Carla Sustek;
- Koiffmann, Celia Priszkulnik
Publication type:
Article
Obesity with associated developmental delay and/or learning disability in patients exhibiting additional features: Report of novel pathogenic copy number variants.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 3, p. 479, doi. 10.1002/ajmg.a.35761
By:
- D'Angelo, Carla Sustek;
- Kohl, Ilana;
- Varela, Monica Castro;
- de Castro, Cláudia Irene Emílio;
- Kim, Chong Ae;
- Bertola, Débora Romeo;
- Lourenço, Charles Marques;
- Perez, Ana Beatriz Alvarez;
- Koiffmann, Celia Priszkulnik
Publication type:
Article
SÍNDROME DE PRADER WILLI: O QUE O PEDIATRA GERAL DEVE FAZER - UMA REVISÃO.
Published in:
Revista Paulista de Pediatria, 2018, v. 36, n. 3, p. 345, doi. 10.1590/1984-0462/;2018;36;3;00003
By:
- Gouveia Passone, Caroline Buff;
- Lage Pasqualucci, Paula;
- Rocha Franco, Ruth;
- Sakura Ito, Simone;
- Farjalla Mattar, Larissa Baldini;
- Priszkulnik Koiffmann, Celia;
- Azevedo Soster, Leticia;
- Aivazoglou Carneiro, Jorge David;
- Cabral Menezes-Filho, Hamilton;
- Damiani, Durval
Publication type:
Article
Burden of Rare Copy Number Variants in Microcephaly: A Brazilian Cohort of 185 Microcephalic Patients and Review of the Literature.
Published in:
Journal of Autism & Developmental Disorders, 2024, v. 54, n. 3, p. 1181, doi. 10.1007/s10803-022-05853-z
By:
- Tolezano, Giovanna Cantini;
- Bastos, Giovanna Civitate;
- da Costa, Silvia Souza;
- Freire, Bruna Lucheze;
- Homma, Thais Kataoka;
- Honjo, Rachel Sayuri;
- Yamamoto, Guilherme Lopes;
- Passos-Bueno, Maria Rita;
- Koiffmann, Celia Priszkulnik;
- Kim, Chong Ae;
- Vianna-Morgante, Angela Maria;
- de Lima Jorge, Alexander Augusto;
- Bertola, Débora Romeo;
- Rosenberg, Carla;
- Krepischi, Ana Cristina Victorino
Publication type:
Article
Phenotypic variability in Angelman syndrome: comparison among different deletion classes and between deletion and UPD subjects.
Published in:
European Journal of Human Genetics, 2004, v. 12, n. 12, p. 987, doi. 10.1038/sj.ejhg.5201264
By:
- Varela, Monica Castro;
- Kok, Fernando;
- Otto, Paulo Alberto;
- Koiffmann, Celia Priszkulnik
Publication type:
Article
Chromosomal microarray analysis in the genetic evaluation of 279 patients with syndromic obesity.
Published in:
Molecular Cytogenetics (17558166), 2018, v. 11, p. 1, doi. 10.1186/s13039-018-0363-7
By:
- D’Angelo, Carla Sustek;
- Varela, Monica Castro;
- de Castro, Claudia Irene Emílio;
- Otto, Paulo Alberto;
- Perez, Ana Beatriz Alvarez;
- Lourenço, Charles Marques;
- Kim, Chong Ae;
- Bertola, Debora Romeo;
- Kok, Fernando;
- Garcia-Alonso, Luis;
- Koiffmann, Celia Priszkulnik
Publication type:
Article
Cytogenetic Evidence of Involvement of Chromosome Regions 15q12 and 12q15 in Conditions with Associated Overgrowth.
Published in:
DNA & Cell Biology, 1993, v. 12, n. 3, p. 227, doi. 10.1089/dna.1993.12.227
By:
- WAJNTAL, ANITA;
- MORETTI-FERREIRA, DANILO;
- SOUZA, DEISE HELENA DE;
- KOIFFMANN, CÉLIA PRISZKULNIK
Publication type:
Article

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