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Celia Priszkulnik Koiffmann

CV Lattes


Universidade de São Paulo (USP). Instituto de Biociências (IB)  (Institutional affiliation for the last research proposal)
Birthplace: Brazil

bachelor's at Biologia from Universidade de São Paulo (1967), master's at Genetics from Universidade de São Paulo (1972) and doctorate at Genetics from Universidade de São Paulo (1978). Has experience in Genetics, focusing on Human and Medical Genetics, acting on the following subjects: angelman syndrome, genotype-phenotype correlations, síndrome de prader-willi, imprinting genomico and aberracao cromossomica. (Source: Lattes Curriculum)

Research grants
Scholarships in Brazil
FAPESP support in numbers * Updated May 23, 2020
Total / Available in English
Most frequent collaborators in research granted by FAPESP
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Use this Research Supported by FAPESP (BV/FAPESP) channel only to send messages referring to FAPESP-funded scientific projects.


 

 

 

 

Keywords used by the researcher
Scientific publications resulting from Research Grants and Scholarships under the grantee's responsibility (9)

(References retrieved automatically from Web of Science and SciELO through information on FAPESP grants and their corresponding numbers as mentioned in the publications by the authors)

Publications7
Citations86
Cit./Article12.3
Data from Web of Science

FAGALI, CLAUDIA; KOK, FERNANDO; NICOLA, PABLO; KIM, CHONG; BERTOLA, DEBORA; ALBANO, LILIAN; KOIFFMANN, CELIA P.. MLPA analysis in 30 Sotos syndrome patients revealed one total NSD1 deletion and two partial deletions not previously reported. EUROPEAN JOURNAL OF MEDICAL GENETICS, v. 52, n. 5, p. 333-336, . Web of Science Citations: 11. (05/52039-1)

D'ANGELO, CARLA S.; KOHL, ILANA; VARELA, MONICA CASTRO; DE CASTRO, CLAUDIA I. E.; KIM, CHONG A.; BERTOLA, DEBORA R.; LOURENCO, CHARLES M.; KOIFFMANN, CELIA P.. Extending the Phenotype of Monosomy 1p36 Syndrome and Mapping of a Critical Region for Obesity and Hyperphagia. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, v. 152A, n. 1, p. 102-110, . Web of Science Citations: 20. (98/14254-2)

D'ANGELO, CARLA SUSTEK; KOHL, ILANA; VARELA, MONICA CASTRO; EMILIO DE CASTRO, CLAUDIA IRENE; KIM, CHONG AE; BERTOLA, DEBORA ROMEO; LOURENCO, CHARLES MARQUES; ALVAREZ PEREZ, ANA BEATRIZ; KOIFFMANN, CELIA PRISZKULNIK. 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, v. 161A, n. 3, p. 479-486, . Web of Science Citations: 18. (98/14254-2)

D'ANGELO, CARLA S.; VARELA, MONICA C.; DE CASTRO, CLAUDIA I. E.; KIM, CHONG A.; BERTOLA, DEBORA R.; LOURENCO, CHARLES M.; PEREZ, ANA BEATRIZ A.; KOIFFMANN, CELIA P.. Investigation of selected genomic deletions and duplications in a cohort of 338 patients presenting with syndromic obesity by multiplex ligation-dependent probe amplification using synthetic probes. MOLECULAR CYTOGENETICS, v. 7, . Web of Science Citations: 3. (98/14254-2)

D'ANGELO, CARLA SUSTEK; VARELA, MONICA CASTRO; EMILIO DE CASTRO, CLAUDIA IRENE; OTTO, PAULO ALBERTO; ALVAREZ PEREZ, ANA BEATRIZ; LOURENCO, CHARLES MARQUES; KIM, CHONG AE; BERTOLA, DEBORA ROMEO; KOK, FERNANDO; GARCIA-ALONSO, LUIS; et al. Chromosomal microarray analysis in the genetic evaluation of 279 patients with syndromic obesity. MOLECULAR CYTOGENETICS, v. 11, . Web of Science Citations: 7. (98/14254-2)

D'ANGELO, CARLA S.; GAJECKA, MARZENA; KIM, CHONG A.; GENTLES, ANDREW J.; GLOTZBACH, CARON D.; SHAFFER, LISA G.; KOIFFMANN, CELIA P.. Further delineation of nonhomologous-based recombination and evidence for subtelomeric segmental duplications in 1p36 rearrangements. Human Genetics, v. 125, n. 5-6, p. 551-563, . Web of Science Citations: 19. (98/14254-2)

VARELA, MONICA CASTRO; KOK, FERNANDO; OTTO, PAULO ALBERTO; KOIFFMANN, CELIA PRISZKULNIK. Phenotypic variability in Angelman syndrome: comparison among different deletion classes and between deletion and UPD subjects. European Journal of Human Genetics, v. 12, n. 12, p. 987-992, .

VARELA, MONICA CASTRO; KOK, FERNANDO; SETIAN, N.; KOIFFMANN, CELIA PRISZKULNIK. Impact of molecular mechanisms, including deletion size, on Prader-Willi syndrome phenotype: study of 75 patients. Clinical Genetics, v. 67, n. 1, p. 47-52, .

D'ANGELO, CARLA S.; MOLLER DOS SANTOS, MAUREN F.; ALONSO, LUIS G.; KOIFFMANN, CELIA P.. Two New Cases of 1p21.3 Deletions and an Unbalanced Translocation t(8;12) among Individuals with Syndromic Obesity. MOLECULAR SYNDROMOLOGY, v. 6, n. 2, p. 63-70, . Web of Science Citations: 8. (98/14254-2)

Academic Publications

(References retrieved automatically from State of São Paulo Research Institutions)

KOHL, Ilana. Síndrome de Cri du Chat: estudo genético e correlação com o fenótipo clínico e comportamental.  103 f. Dissertação (Mestrado) -  Instituto de Biociências.  Universidade de São Paulo (USP).  São Paulo.  (02/10733-0

FAGALI, Claudia Quadros. Síndrome de Sotos: pesquisa de microdeleções e mutações intragênicas no gene NSD1. Dissertação (Mestrado) -  Instituto de Biociências.  Universidade de São Paulo (USP).  São Paulo.  (05/52039-1

D'ANGELO, Carla Sustek. Rearranjos cromossômicos subteloméricos: investigação de deleções 1p36 e de suas correlações genótipo-fenótipo.  viii, 110 f. Dissertação (Mestrado) -  Instituto de Biociências.  Universidade de São Paulo (USP).  São Paulo.  (01/08912-1

IUGHETTI, Cristiani Gifalli. Evolução cromossômica: estudo da variabilidade cariotípica em Platyrrhini e das homeologias e sintenias com cromossomos humanos. Tese (Doutorado) -  Instituto de Biociências.  Universidade de São Paulo (USP).  São Paulo.  (03/12324-3

OLIVEIRA, Mariana Angelozzi de. Caracterização de rearranjos cromossômicos em pacientes com malformações congênitas múltiplas e/ou retardamento mental (MCA/MR). Dissertação (Mestrado) -  Instituto de Biociências.  Universidade de São Paulo (USP).  São Paulo.  (05/52050-5

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