ELIAS‚ R.C.; GALERA‚ M.F.; SCHNABEL‚ B.; BRIONES‚ M.R.S.; BORRI‚ M.L.; LIPAY‚ M.; CARVALHEIRA‚ G.; BRUNONI‚ D.; MELARAGNO‚ M.I.. Deletion of 17p13 and LIS1 Gene Mutation in Isolated Lissencephaly Sequence. PEDIATRIC NEUROLOGY, v. 35, n. 1, p. 42-46, 2006. (00/13628-8)
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. -, 2020. Citações Web of Science: 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, MAY 2019. Citações Web of Science: 0. (14/11572-8)
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, SEP 6 2018. Citações Web of Science: 0. (09/53105-9, 09/53864-7, 14/11572-8, 08/58238-4, 12/25247-6)
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, AUG 2017. Citações Web of Science: 1. (14/11572-8)
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, MAR 2019. Citações Web of Science: 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, SEP 2019. Citações Web of Science: 0. (14/11572-8)
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, MAR 15 2012. Citações Web of Science: 2. (10/50737-1)
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, JUL 2014. Citações Web of Science: 9. (12/15572-7, 12/51150-0)
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, MAY 13 2015. Citações Web of Science: 4. (12/15572-7, 12/51150-0)
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+, MAY 2015. Citações Web of Science: 11. (11/51690-1)
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, DEC 20 2014. Citações Web of Science: 10. (12/15572-7, 12/51150-0)
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, AUG 22 2014. Citações Web of Science: 0. (10/05123-5, 09/53105-9)
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, DEC 21 2011. Citações Web of Science: 56. (07/58735-5)
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, NOV 2019. Citações Web of Science: 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, NOV 2020. Citações Web of Science: 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, AUG 20 2019. Citações Web of Science: 0. (14/11572-8)
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, DEC 2016. Citações Web of Science: 0. (14/11572-8)
DANTAS, ANELISA GOLLO; SANTORO, MARCOS LEITE; NUNES, NATALIA; DE MELLO, CLAUDIA BERLIM; EVANGELISTA PIMENTA, LARISSA SALUSTIANO; MELONI, VERA AYRES; QUEIROZ SOARES, DIOGO CORDEIRO; BELANGERO, SINTIA NOGUEIRA; CARVALHEIRA, GIANNA; KIM, CHONG AE; et al. Downregulation of genes outside the deleted region in individuals with 22q11.2 deletion syndrome. Human Genetics, v. 138, n. 1, p. 93-103, JAN 2019. Citações Web of Science: 0. (14/11572-8, 14/26768-5)
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, OCT 2019. Citações Web of Science: 0. (14/11572-8)
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+, OCT 2013. Citações Web of Science: 4. (10/50737-1)
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, 2013. Citações Web of Science: 4. (10/50737-1)
ELIAS‚ R.C.; GALERA‚ M.F.; SCHNABEL‚ B.; BRIONES‚ M.R.S.; BORRI‚ M.L.; LIPAY‚ M.; CARVALHEIRA‚ G.; BRUNONI‚ D.; MELARAGNO‚ M.I.. Deletion of 17p13 and LIS1 Gene Mutation in Isolated Lissencephaly Sequence. PEDIATRIC NEUROLOGY, v. 35, n. 1, p. 42-46, 2006. (00/13628-8)
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. -, 2020. Citações Web of Science: 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, MAY 2019. Citações Web of Science: 0. (14/11572-8)
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, SEP 6 2018. Citações Web of Science: 0. (09/53105-9, 09/53864-7, 14/11572-8, 08/58238-4, 12/25247-6)
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, AUG 2017. Citações Web of Science: 1. (14/11572-8)
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, MAR 2019. Citações Web of Science: 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, SEP 2019. Citações Web of Science: 0. (14/11572-8)
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, MAR 15 2012. Citações Web of Science: 2. (10/50737-1)
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, JUL 2014. Citações Web of Science: 9. (12/15572-7, 12/51150-0)
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, MAY 13 2015. Citações Web of Science: 4. (12/15572-7, 12/51150-0)
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+, MAY 2015. Citações Web of Science: 11. (11/51690-1)
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, DEC 20 2014. Citações Web of Science: 10. (12/15572-7, 12/51150-0)
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, AUG 22 2014. Citações Web of Science: 0. (10/05123-5, 09/53105-9)
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, DEC 21 2011. Citações Web of Science: 56. (07/58735-5)