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Maria Isabel de Souza Aranha Melaragno

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Universidade Federal de São Paulo (UNIFESP). Campus São Paulo. Escola Paulista de Medicina (EPM)  (Institutional affiliation for the last research proposal)
Birthplace: Brazil

Graduated in Biological Sciences Medical Modality (1978) by the Escola Paulista de Medicina, Universidade Federal de São Paulo (UNIFESP). Masters (1982) and Ph.D. (1988) in Biological Sciences (Biology-Genetics) from the University of São Paulo (USP). Associate Professor (2008) at the Federal University of São Paulo (UNIFESP). Works in Human and Medical Genetics, especially in the area of Cytogenomics, Ad hoc reviewer CNPq, FAPESP and Human Genetics, journal American Journal of Medical Genetics, BMC Medical Genetics, Clinical Genetics, Clinics, Fertility and Sterility, Cytogenetics and Genome Research, GENE, Pediatrics International, Molecular Cytogenetics, among others. Member of the Brazilian Society of Genetics, the Brazilian Society of Medical Genetics, American Society of Human Genetics and European Society of Human Genetics. (Source: Lattes Curriculum)

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Scientific publications resulting from Research Grants and Scholarships under the grantee's responsibility (39)

(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)

Publications38
Citations153
Cit./Article4.0
Data from Web of Science

GUILHERME, ROBERTA SANTOS; HERMETZ, KAREN E.; VARELA, PATRICIA TEIXEIRA; ALVAREZ PEREZ, ANA BEATRIZ; MELONI, VERA AYRES; RUDD, M. KATHARINE; KULIKOWSKI, LESLIE DOMENICI; MELARAGNO, MARIA ISABEL. Terminal 18q deletions are stabilized by neotelomeres. MOLECULAR CYTOGENETICS, v. 8, . Web of Science Citations: 4. (12/51150-0, 12/15572-7)

MOYSES-OLIVEIRA, MARIANA; GUILHERME, ROBERTA DOS SANTOS; DANTAS, ANELISA GOLLO; UETA, RENATA; PEREZ, ANA BEATRIZ; HAIDAR, MAURO; CANONACO, ROSANE; MELONI, VERA AYRES; KOSYAKOVA, NADEZDA; LIEHR, THOMAS; et al. Genetic mechanisms leading to primary amenorrhea in balanced X-autosome translocations. Fertility and Sterility, v. 103, n. 5, p. 1289+, . Web of Science Citations: 11.

GUILHERME, ROBERTA S.; MELONI, VERA F. AYRES; KIM, CHONG A.; PELLEGRINO, RENATA; TAKENO, SYLVIA S.; SPINNER, NANCY B.; CONLIN, LAURA K.; CHRISTOFOLINI, DENISE M.; KULIKOWSKI, LESLIE D.; MELARAGNO, MARIA I.. Mechanisms of ring chromosome formation, ring instability and clinical consequences. BMC MEDICAL GENETICS, v. 12, . Web of Science Citations: 56.

CERONI, J. R. M.; DUTRA, R. L.; HONJO, R. S.; LLERENA, JR., J. C.; ACOSTA, A. X.; MEDEIROS, P. F. V.; GALERA, M. F.; ZANARDO, E. A.; PIAZZON, F. B.; DIAS, A. T.; et al. A Multicentric Brazilian Investigative Study of Copy Number Variations in Patients with Congenital Anomalies and Intellectual Disability. SCIENTIFIC REPORTS, v. 8, . Web of Science Citations: 0. (09/53105-9, 09/53864-7, 14/11572-8, 08/58238-4, 12/25247-6)

MELLO, C. B.; BUENO, O. F. A.; BENEDETTO, L. M.; PIMENTA, L. S. E.; TAKENO, S. S.; MELARAGNO, M. I.; MELONI, V. A.. Intellectual, adaptive and behavioural characteristics in four patients with 18p deletion syndrome. JOURNAL OF INTELLECTUAL DISABILITY RESEARCH, v. 63, n. 3, p. 225-232, . Web of Science Citations: 0. (14/11572-8)

GUILHERME, ROBERTA SANTOS; MELONI, VERA AYRES; ALVAREZ PEREZ, ANA BEATRIZ; PILLA, ANA LUIZA; PAULA DE RAMOS, MARCO ANTONIO; DANTAS, ANELISA GOLLO; TAKERO, SYLVIA SATOMI; KULIKOWSKI, LESLIE DOMENICI; MELARAGNO, MARIA ISABEL. Duplication 9p and their implication to phenotype. BMC MEDICAL GENETICS, v. 15, . Web of Science Citations: 10. (12/51150-0, 12/15572-7)

VICTÓRIA CABRAL SILVEIRA MONTEIRO DE GODOY; FERNANDA TEIXEIRA BELLUCCO; MILENY COLOVATI; HÉLIO RODRIGUES DE OLIVEIRA-JUNIOR; MARIANA MOYSÉS-OLIVEIRA; MARIA ISABEL MELARAGNO. Copy number variation (CNV) identification, interpretation, and database from Brazilian patients. GENETICS AND MOLECULAR BIOLOGY, v. 43, n. 4, p. -, . Web of Science Citations: 0. (14/11572-8)

COLOVATI, MILENY E. S.; GROSSI, BEATRIZ M.; NUNES, GABRIELA D.; FOCK, RODRIGO A.; GUEDES, DULCE R.; MELARAGNO, MARIA I.; CERNACH, MIRLENE C. S. P.. Atypical Prader-Willi and 15q13.3 Microdeletion Syndromes in a Patient with an Unbalanced Translocation. Cytogenetic and Genome Research, v. 158, n. 4, p. 192-198, . Web of Science Citations: 0. (14/11572-8)

MOYSES-OLIVEIRA, MARIANA; DI-BATTISTA, ADRIANA; ZAMARIOLLI, MALU; MELONI, VERA AYRES; BRAGAGNOLO, SILVIA; CHRISTOFOLINI, DENISE MARIA; STEINER, CARLOS EDUARDO; KOSYAKOVA, NADEZDA; LIEHR, THOMAS; REYMOND, ALEXANDRE; et al. Breakpoint mapping at nucleotide resolution in X-autosome balanced translocations associated with clinical phenotypes. European Journal of Human Genetics, v. 27, n. 5, p. 760-771, . Web of Science Citations: 0. (14/11572-8)

GUILHERME, ROBERTA SANTOS; SOARES, KARINA CUNHA; SIMIONI, MILENA; VIEIRA, TARSIS PAIVA; GIL-DA-SILVA-LOPES, VERA LUCIA; KIM, CHONG AE; BRUNONI, DECIO; SPINNER, NANCY BETTINA; CONLIN, LAURA KATHLEEN; CHRISTOFOLINI, DENISE MARIA; et al. Clinical, cytogenetic, and molecular characterization of six patients with ring chromosomes 22, including one with concomitant 22q11.2 deletion. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, v. 164, n. 7, p. 1659-1665, . Web of Science Citations: 9. (12/51150-0, 12/15572-7)

MOYSES-OLIVEIRA, MARIANA; GUILHERME, ROBERTA DOS SANTOS; DANTAS, ANELISA GOLLO; UETA, RENATA; PEREZ, ANA BEATRIZ; HAIDAR, MAURO; CANONACO, ROSANE; MELONI, VERA AYRES; KOSYAKOVA, NADEZDA; LIEHR, THOMAS; et al. Genetic mechanisms leading to primary amenorrhea in balanced X-autosome translocations. Fertility and Sterility, v. 103, n. 5, p. 1289+, . Web of Science Citations: 11.

MELONI, VERA AYRES; TAKENO, SYLVIA SATOMI; PILLA, ANA LUIZA; DE MELLO, CLAUDIA BERLIM; MELARAGNO, MARIA ISABEL; KULIKOWSKI, LESLIE DOMENICI. Trisomy 1q32 and monosomy 11q25 associated with congenital heart defect: cytogenomic delineation and patient fourteen years follow-up. MOLECULAR CYTOGENETICS, v. 7, . Web of Science Citations: 0. (10/05123-5, 09/53105-9)

GUILHERME, ROBERTA SANTOS; MELONI, VERA AYRES; ALVAREZ PEREZ, ANA BEATRIZ; PILLA, ANA LUIZA; PAULA DE RAMOS, MARCO ANTONIO; DANTAS, ANELISA GOLLO; TAKERO, SYLVIA SATOMI; KULIKOWSKI, LESLIE DOMENICI; MELARAGNO, MARIA ISABEL. Duplication 9p and their implication to phenotype. BMC MEDICAL GENETICS, v. 15, . Web of Science Citations: 10. (12/51150-0, 12/15572-7)

AYRES MELONI, VERA DE FREITAS; PIAZZON, FLAVIA BALBO; DE FARIA SOARES, MARIA DE FATIMA; TAKENO, SYLVIA SATOMI; CHRISTOFOLINI, DENISE MARIA; KULIKOWSKI, LESLIE DOMENICI; BRUNONI, DECIO; MELARAGNO, MARIA ISABEL. Cytogenomic characterization of an unexpected 17.6 Mb 9p deletion associated to a 14.8 Mb 20p duplication in a dysmorphic patient with multiple congenital anomalies presenting a normal G-banding karyotype. Gene, v. 496, n. 1, p. 59-62, . Web of Science Citations: 2.

ZAMARIOLLI, MALU; BURSSED, BRUNA; MOYSES-OLIVEIRA, MARIANA; COLOVATI, MILENY; BELLUCCO, FERNANDA TEIXEIRA DA SILVA; DOS SANTOS, LEONARDO CAIRES; ALVAREZ PEREZ, ANA BEATRIZ; BRAGAGNOLO, SILVIA; MELARAGNO, MARIA ISABEL. Novel MYT1 variants expose the complexity of oculo-auriculo-vertebral spectrum genetic mechanisms. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, v. 185, n. 7, . Web of Science Citations: 0. (14/11572-8, 11/23794-7)

KOZEL, BETH A.; BARAK, BOAZ; KIM, CHONG AE; MERVIS, CAROLYN B.; OSBORNE, LUCY R.; PORTER, MELANIE; POBER, BARBARA R.. Williams syndrome. NATURE REVIEWS DISEASE PRIMERS, v. 7, n. 1, . Web of Science Citations: 0. (19/21644-0)

FAVILLA, BIANCA PEREIRA; MELONI, VERA AYRES; PEREZ, ANA BEATRIZ; MORETTI-FERREIRA, DANILO; DE SOUZA, DEISE HELENA; BELLUCCO, FERNANDA TEIXEIRA; MELARAGNO, MARIA ISABEL. Spread of X-chromosome inactivation into autosomal regions in patients with unbalanced X-autosome translocations and its phenotypic effects. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, v. 185, n. 8, p. 2295-2305, . Web of Science Citations: 0. (14/11572-8, 19/21644-0)

DI-BATTISTA, ADRIANA; MELONI, VERA AYRES; DA SILVA, MAGNUS DIAS; MOYSES-OLIVEIRA, MARIANA; MELARAGNO, MARIA ISABEL. Unusual X-Chromosome Inactivation Pattern in Patients with Xp11.23-p11.22 Duplication: Report and Review. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, v. 170, n. 12, p. 3271-3275, . Web of Science Citations: 0. (14/11572-8)

COLOVATI, MILENY E. S.; DA SILVA, LUCIANA R. J.; TAKENO, SYLVIA S.; MANCINI, TATIANE I.; DUTRA, ANA R. N.; GUILHERME, ROBERTA S.; DE MELLO, CLAUDIA B.; MELARAGNO, MARIA I.; PEREZ, ANA B. A.. Marfan syndrome with a complex chromosomal rearrangement including deletion of the FBN1 gene. MOLECULAR CYTOGENETICS, v. 5, . Web of Science Citations: 8.

NORONHA DUTRA, A. R.; MANCINI, T. I.; SATOMI TAKENO, S.; MOYSES OLIVEIRA, M.; KIM, C. A.; ALVAREZ PEREZ, A. B.; DOMENICI KULIKOWSKI, L.; MELARAGNO, M. I.. Different Conformation of Two Supernumerary 18p Isochromosomes, One with a Concomitant Partial 18q Trisomy. Cytogenetic and Genome Research, v. 138, n. 1, p. 1-4, . Web of Science Citations: 1.

SPREIZ, ANA; GUILHERME, ROBERTA S.; CASTELLAN, CLAUDIO; GREEN, ANDREW; RITTINGER, OLAF; WELLEK, BRIGITTE; UTERMANN, BARBARA; ERDEL, MARTIN; FAUTH, CHRISTINE; HABERLANDT, EDDA; et al. Single-Nucleotide Polymorphism Array-Based Characterization of Ring Chromosome 18. JOURNAL OF PEDIATRICS, v. 163, n. 4, p. 1174+, . Web of Science Citations: 4.

GUILHERME, R. S.; CERNACH, M. C. S. P.; SFAKIANAKIS, T. E.; TAKENO, S. S.; NARDOZZA, L. M. M.; ROSSI, C.; BHATT, S. S.; LIEHR, T.; MELARAGNO, M. I.. A Complex Chromosome Rearrangement Involving Four Chromosomes, Nine Breakpoints and a Cryptic 0.6-Mb Deletion in a Boy with Cerebellar Hypoplasia and Defects in Skull Ossification. Cytogenetic and Genome Research, v. 141, n. 4, p. 317-323, . Web of Science Citations: 4.

CERONI, J. R. M.; DUTRA, R. L.; HONJO, R. S.; LLERENA, JR., J. C.; ACOSTA, A. X.; MEDEIROS, P. F. V.; GALERA, M. F.; ZANARDO, E. A.; PIAZZON, F. B.; DIAS, A. T.; et al. A Multicentric Brazilian Investigative Study of Copy Number Variations in Patients with Congenital Anomalies and Intellectual Disability. SCIENTIFIC REPORTS, v. 8, . Web of Science Citations: 0. (09/53105-9, 09/53864-7, 14/11572-8, 08/58238-4, 12/25247-6)

MELLO, C. B.; BUENO, O. F. A.; BENEDETTO, L. M.; PIMENTA, L. S. E.; TAKENO, S. S.; MELARAGNO, M. I.; MELONI, V. A.. Intellectual, adaptive and behavioural characteristics in four patients with 18p deletion syndrome. JOURNAL OF INTELLECTUAL DISABILITY RESEARCH, v. 63, n. 3, p. 225-232, . Web of Science Citations: 0. (14/11572-8)

MOYSES-OLIVEIRA, MARIANA; DI-BATTISTA, ADRIANA; ZAMARIOLLI, MALU; MELONI, VERA AYRES; BRAGAGNOLO, SILVIA; CHRISTOFOLINI, DENISE MARIA; STEINER, CARLOS EDUARDO; KOSYAKOVA, NADEZDA; LIEHR, THOMAS; REYMOND, ALEXANDRE; et al. Breakpoint mapping at nucleotide resolution in X-autosome balanced translocations associated with clinical phenotypes. European Journal of Human Genetics, v. 27, n. 5, p. 760-771, . Web of Science Citations: 0. (14/11572-8)

COLOVATI, MILENY E. S.; GROSSI, BEATRIZ M.; NUNES, GABRIELA D.; FOCK, RODRIGO A.; GUEDES, DULCE R.; MELARAGNO, MARIA I.; CERNACH, MIRLENE C. S. P.. Atypical Prader-Willi and 15q13.3 Microdeletion Syndromes in a Patient with an Unbalanced Translocation. Cytogenetic and Genome Research, v. 158, n. 4, p. 192-198, . Web of Science Citations: 0. (14/11572-8)

GUILHERME, ROBERTA SANTOS; SOARES, KARINA CUNHA; SIMIONI, MILENA; VIEIRA, TARSIS PAIVA; GIL-DA-SILVA-LOPES, VERA LUCIA; KIM, CHONG AE; BRUNONI, DECIO; SPINNER, NANCY BETTINA; CONLIN, LAURA KATHLEEN; CHRISTOFOLINI, DENISE MARIA; et al. Clinical, cytogenetic, and molecular characterization of six patients with ring chromosomes 22, including one with concomitant 22q11.2 deletion. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, v. 164, n. 7, p. 1659-1665, . Web of Science Citations: 9. (12/51150-0, 12/15572-7)

BELLUCCO, FERNANDA T.; NUNES, NATALIA; COLOVATI, MILENY E. S.; MALINVERNI, ANDREA C. M.; CANELOI, THAMY P.; SOARES, MARIA F.; PEREZ, ANA B. A.; MELARAGNO, MARIA I.. Miller-Dieker Syndrome due to a 5.5-Mb 17p Deletion in a 17;Y Pseudodicentric Chromosome. Cytogenetic and Genome Research, v. 152, n. 1, p. 29-32, . Web of Science Citations: 1. (14/11572-8)

VICTÓRIA CABRAL SILVEIRA MONTEIRO DE GODOY; FERNANDA TEIXEIRA BELLUCCO; MILENY COLOVATI; HÉLIO RODRIGUES DE OLIVEIRA-JUNIOR; MARIANA MOYSÉS-OLIVEIRA; MARIA ISABEL MELARAGNO. Copy number variation (CNV) identification, interpretation, and database from Brazilian patients. GENETICS AND MOLECULAR BIOLOGY, v. 43, n. 4, p. -, . Web of Science Citations: 0. (14/11572-8)

GUILHERME, ROBERTA S.; MELONI, VERA F. AYRES; KIM, CHONG A.; PELLEGRINO, RENATA; TAKENO, SYLVIA S.; SPINNER, NANCY B.; CONLIN, LAURA K.; CHRISTOFOLINI, DENISE M.; KULIKOWSKI, LESLIE D.; MELARAGNO, MARIA I.. Mechanisms of ring chromosome formation, ring instability and clinical consequences. BMC MEDICAL GENETICS, v. 12, . Web of Science Citations: 56.

MOYSES-OLIVEIRA, MARIANA; GIANNUZZI, GIULIANA; FISH, RICHARD J.; ROSENFELD, JILL A.; PETIT, FLORENCE; SOARES, MARIA DE FATIMA; KULIKOWSKI, LESLIE DOMENICI; DI-BATTISTA, ADRIANA; ZAMARIOLLI, MALU; XIA, FAN; et al. Inactivation of AMMECR1 is associated with growth, bone, and heart alterations. Human mutation, v. 39, n. 2, p. 281-291, . Web of Science Citations: 4. (14/11572-8)

MALINVERNI, ANDREA C. M.; YAMASHIRO COELHO, ERIKA M.; CHEN, KELIN; COLOVATI, MILENY E.; SOARES PINHO CERNACH, MIRLENE C.; BRAGAGNOLO, SILVIA; MELARAGNO, MARIA ISABEL. Deletion 21pterq22.11: Report of a Patient with Dysmorphic Features, Hypertonia, and Cafe-au-Lait Macules and Review of the Literature. Cytogenetic and Genome Research, v. 153, n. 2, p. 81-85, . Web of Science Citations: 0. (14/11572-8)

ZAMARIOLLI, MALU; COLOVATI, MILENY; MOYSES-OLIVEIRA, MARIANA; NUNES, NATALIA; DOS SANTOS, LEONARDO CAIRES; ALVAREZ PEREZ, ANA B.; BRAGAGNOLO, SILVIA; MELARAGNO, MARIA ISABEL. Rare single-nucleotide variants in oculo-auriculo-vertebral spectrum (OAVS). MOLECULAR GENETICS & GENOMIC MEDICINE, v. 7, n. 10, . Web of Science Citations: 0. (14/11572-8)

BRAGAGNOLO, SILVIA; COLOVATI, MILENY E. S.; SOUZA, MALU Z.; DANTAS, ANELISE G.; DE SOARES, MARIA F. F.; MELARAGNO, MARIA I.; PEREZ, ANA B.. Clinical and cytogenomic findings in OAV spectrum. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, v. 176, n. 3, p. 638-648, . Web of Science Citations: 4. (13/19897-0, 13/04623-2)

BELLUCCO, FERNANDA T.; DE MELLO, CLAUDIA B.; MELONI, VERA A.; MELARAGNO, MARIA ISABEL. Malan syndrome in a patient with 19p13.2p13.12 deletion encompassing NFIX and CACNA1A genes: Case report and review of the literature. MOLECULAR GENETICS & GENOMIC MEDICINE, v. 7, n. 12, . Web of Science Citations: 0. (14/11572-8)

CARVALHEIRA, GIANNA; MALINVERNI, ANDREA M.; MOYSES-OLIVEIRA, MARIANA; UETA, RENATA; CARDILI, LEONARDO; MONTEAGUDO, PATRICIA; MATHEZ, ANDREIA L. G.; VERRESCHI, IEDA T.; MALUF, MIGUEL A.; SHIDA, MARCIA E. F.; et al. The Natural History of a Man With Ovotesticular 46,XX DSD Caused by a Novel 3-Mb 15q26.2 Deletion Containing NR2F2 Gene. JOURNAL OF THE ENDOCRINE SOCIETY, v. 3, n. 11, p. 2107-2113, . Web of Science Citations: 0. (14/11572-8, 11/20747-8, 12/00079-3, 14/06570-6)

SOARES, DIOGO C.; DANTAS, ANELISA G.; MATTA, MARINA C.; PASTORINO, ANTONIO C.; MELARAGNO, MARIA ISABEL; KULIKOWSKI, LESLIE; MONTENEGRO, MARILIA; KIM, CHONG A.; CARNEIRO-SAMPAIO, MAGDA; TORRES, LEURIDAN C.. Lymphoproliferative disorder with polyautoimmunity and hypogammaglobulinemia: An unusual presentation of 22q11.2 deletion syndrome. Clinical Immunology, v. 220, . Web of Science Citations: 0. (14/50489-9, 14/11572-8)

MOYSES-OLIVEIRA, MARIANA; CABRAL, VICTORIA; GIGEK, CAROLINA OLIVEIRA; DE CARVALHO CORREA, DEBORA CABRAL; DI-BATTISTA, ADRIANA; STUMPP, TAIZA; MELARAGNO, MARIA ISABEL. Search for appropriate reference genes for quantitative reverse transcription PCR studies in somite, prosencephalon and heart of early mouse embryo. Gene, v. 710, p. 148-155, . Web of Science Citations: 0. (14/11572-8)

ZAMARIOLLI, MALU; DI-BATTISTA, ADRIANA; MOYSES-OLIVEIRA, MARIANA; DE MELLO, CLAUDIA B.; DE PAULA RAMOS, MARCO A.; LIEHR, THOMAS; MELARAGNO, I, MARIA. Disruption ofPCDH10andTNRC18Genes due to a Balanced Translocation. Cytogenetic and Genome Research, v. 160, n. 6, p. 321-328, . Web of Science Citations: 0. (14/11572-8)

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