Scientific publications
(33)
(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)
DANTAS, VITOR G. L.;
RAVAL, MANMEET H.;
BALLESTEROS, ANGELA;
CUI, RUNJIA;
GUNTHER, LAURA K.;
YAMAMOTO, GUILHERME L.;
ALVES, LEANDRO UCELA;
BUENO, ANDRE SILVA;
LEZIROVITZ, KARINA;
PIRANA, SULENE;
MENDES, BEATRIZ C. A.;
YENGO, CHRISTOPHER M.;
KACHAR, BECHARA;
MINGRONI-NETTO, REGINA C.
Characterization of a novel MYO3A missense mutation associated with a dominant form of late onset hearing loss.
SCIENTIFIC REPORTS,
v. 8,
JUN 7 2018.
Web of Science Citations: 0.
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;
KOIFFMANN, CELIA PRISZKULNIK.
Chromosomal microarray analysis in the genetic evaluation of 279 patients with syndromic obesity.
MOLECULAR CYTOGENETICS,
v. 11,
FEB 5 2018.
Web of Science Citations: 7.
NASLAVSKY, MICHEL SATYA;
YAMAMOTO, GUILHERME LOPES;
DE ALMEIDA, TATIANA FERREIRA;
EZQUINA, SUZANA A. M.;
SUNAGA, DANIELE YUMI;
PHO, NAM;
BOZOKLIAN, DANIEL;
MILKEWITZ SANDBERG, TATIANA ORLI;
BRITO, LUCIANO ABREU;
LAZAR, MONIZE;
BERNARDO, DANILO VICENSOTTO;
AMARO, JR., EDSON;
DUARTE, YEDA A. O.;
LEBRAO, MARIA LUCIA;
PASSOS-BUENO, MARIA RITA;
ZATZ, MAYANA.
Exomic variants of an elderly cohort of Brazilians in the ABraOM database.
Human mutation,
v. 38,
n. 7,
p. 751-763,
JUL 2017.
Web of Science Citations: 45.
LINHARES, NATALIA D.;
VALADARES, EUGENIA R.;
DA COSTA, SILVIA S.;
ARANTES, RODRIGO R.;
DE OLIVEIRA, LUIZ ROBERTO;
ROSENBERG, CARLA;
VIANNA-MORGANTE, ANGELA M.;
SVARTMAN, MARTA.
Inherited Xq13.2-q21.31 duplication in a boy with recurrent seizures and pubertal gynecomastia: Clinical, chromosomal and aCGH characterization.
META GENE,
v. 9,
p. 185-190,
SEP 2016.
Web of Science Citations: 4.
BARBOZA, JR., L. C. M.;
LEZIROVITZ, K.;
ZANATTA, D. B.;
STRAUSS, B. E.;
MINGRONI-NETTO, R. C.;
OITICICA, J.;
HADDAD, L. A.;
BENTO, R. F.
Transplantation and survival of mouse inner ear progenitor/stem cells in the organ of Corti after cochleostomy of hearing-impaired guinea pigs: preliminary results.
Brazilian Journal of Medical and Biological Research,
v. 49,
n. 4
2016.
Web of Science Citations: 2.
YAMAMOTO, GUILHERME LOPES;
AGUENA, MEIRE;
GOS, MONIKA;
HUNG, CHRISTINA;
PILCH, JACEK;
FAHIMINIYA, SOMAYYEH;
ABRAMOWICZ, ANNA;
CRISTIAN, INGRID;
BUSCARILLI, MICHELLE;
NASLAVSKY, MICHEL SATYA;
MALAQUIAS, ALEXSANDRA C.;
ZATZ, MAYANA;
BODAMER, OLAF;
MAJEWSKI, JACEK;
JORGE, ALEXANDER A. L.;
PEREIRA, ALEXANDRE C.;
KIM, CHONG AE;
PASSOS-BUENO, MARIA RITA;
BERTOLA, DEBORA ROMEO.
Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome.
JOURNAL OF MEDICAL GENETICS,
v. 52,
n. 6,
p. 413-421,
JUN 2015.
Web of Science Citations: 66.
MARTINS-BACH, AUREA B.;
MALHEIROS, JACKELINE;
MATOT, BEATRICE;
MARTINS, POLIANA C. M.;
ALMEIDA, CAMILA F.;
CALDEIRA, WALDIR;
RIBEIRO, ALBERTO F.;
DE SOUSA, PAULO LOUREIRO;
AZZABOU, NOURA;
TANNSUS, ALBERTO;
CARLIER, PIERRE G.;
VAINZOF, MARIZ.
Quantitative T2 Combined with Texture Analysis of Nuclear Magnetic Resonance Images Identify Different Degrees of Muscle Involvement in Three Mouse Models of Muscle Dystrophy: mdx, Large(myd) and mdx/Large(myd).
PLoS One,
v. 10,
n. 2
FEB 24 2015.
Web of Science Citations: 5.
DANTAS, VITOR G. L.;
FREITAS, ERIKA L.;
DELLA-ROSA, VALTER A.;
LEZIROVITZ, KARINA;
DE MORAES, ANA MARIA S. M.;
RAMOS, SILVIA B.;
OITICICA, JEANNE;
ALVES, LEANDRO U.;
PEARSON, PETER L.;
ROSENBERG, CARLA;
MINGRONI-NETTO, REGINA C.
Novel partial duplication of EYA1 causes branchiootic syndrome in a large Brazilian family.
INTERNATIONAL JOURNAL OF AUDIOLOGY,
v. 54,
n. 9,
p. 593-598,
2015.
Web of Science Citations: 1.
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,
OCT 31 2014.
Web of Science Citations: 3.
YAMAMOTO, GUILHERME L.;
BARATELA, WAGNER A. R.;
ALMEIDA, TATIANA F.;
LAZAR, MONIZE;
AFONSO, CLARA L.;
OYAMADA, MARIA K.;
SUZUKI, LISA;
OLIVEIRA, LUIZ A. N.;
RAMOS, ESTER S.;
KIM, CHONG A.;
PASSOS-BUENO, MARIA RITA;
BERTOLA, DEBORA R.
Mutations in PCYT1A Cause Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy.
American Journal of Human Genetics,
v. 94,
n. 1,
p. 113-119,
JAN 2 2014.
Web of Science Citations: 19.
SALOMONE, RAQUEL;
BENTO, RICARDO F.;
COSTA, HELOISA J. Z. R.;
AZZI-NOGUEIRA, DEBORAH;
OVANDO, PATRICIA C.;
DA-SILVA, CIRA F.;
ZANATTA, DANIELA B.;
STRAUSS, BRYAN E.;
HADDAD, LUCIANA A.
BONE MARROW STEM CELLS IN FACIAL NERVE REGENERATION FROM ISOLATED STUMPS.
MUSCLE & NERVE,
v. 48,
n. 3,
p. 423-429,
SEP 2013.
Web of Science Citations: 17.
ZABEU ROSSI COSTA, HELOISA JULIANA;
BENTO, RICARDO FERREIRA;
SALOMONE, RAQUEL;
AZZI-NOGUEIRA, DEBORAH;
ZANATTA, DANIELA B.;
COSTA, MARCIO PAULINO;
DA SILVA, CIRO FERREIRA;
STRAUSS, BRYAN E.;
HADDAD, LUCIANA A.
Mesenchymal bone marrow stem cells within polyglycolic acid tube observed in vivo after six weeks enhance facial nerve regeneration.
Brain Research,
v. 1510,
p. 10-21,
MAY 13 2013.
Web of Science Citations: 24.
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,
MAR 2013.
Web of Science Citations: 18.
FONSECA, A. C. S.;
BONALDI, A.;
COSTA, S. S.;
FREITAS, M. R.;
KOK, F.;
VIANNA-MORGANTE, A. M.
PLP1 duplication at the breakpoint regions of an apparently balanced t(X;22) translocation causes Pelizaeus-Merzbacher disease in a girl.
Clinical Genetics,
v. 83,
n. 2,
p. 169-174,
FEB 2013.
Web of Science Citations: 7.
BRITO, LUCIANO ABREU;
RIBEIRO PARANAIBA, LIVIA MARIS;
SILVA BASSI, CAMILA FERNANDES;
MASOTTI, CIBELE;
MALCHER, CAROLINA;
SCHLESINGER, DAVID;
ROCHA, KATIA MARIA;
CRUZ, LUCAS ALVIZI;
BARBARA, LIGIA KOBAYASHI;
ALONSO, NIVALDO;
FRANCO, DIOGO;
BAGORDAKIS, ELIZABETE;
MARTELLI, JR., HERCILIO;
MEYER, DIOGO;
COLETTA, RICARDO D.;
PASSOS-BUENO, MARIA RITA.
Region 8q24 Is a Susceptibility Locus for Nonsyndromic Oral Clefting in Brazil.
BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY,
v. 94,
n. 6,
p. 464-468,
JUN 2012.
Web of Science Citations: 27.
CAPELLI, LEONARDO P.;
KREPISCHI, C. V.;
GURGEL-GIANNETTI, JULIANA;
MENDES, MIRIAN FABIOLA S.;
RODRIGUES, TATIANE;
VARELA, MONICA C.;
KOIFFMANN, CELIA P.;
ROSENBERG, CARLA.
Deletion of the RMGA and CHD2 genes in a child with epilepsy and mental deficiency.
EUROPEAN JOURNAL OF MEDICAL GENETICS,
v. 55,
n. 2,
p. 132-134,
FEB 2012.
Web of Science Citations: 23.
BONALDI, ADRIANO;
MAZZEU, JULIANA F.;
COSTA, SILVIA S.;
HONJO, RACHEL S.;
BERTOLA, DEBORA R.;
ALBANO, LILIAN M. J.;
FURQUIM, ISABEL M.;
KIM, CHONG A.;
VIANNA-MORGANTE, ANGELA M.
Microduplication of the ICR2 Domain at Chromosome 11p15 and Familial Silver-Russell Syndrome.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A,
v. 155A,
n. 10,
p. 2479-2483,
OCT 2011.
Web of Science Citations: 30.
VICTORINO KREPISCHI, ANA CRISTINA;
KNIJNENBURG, JEROEN;
BERTOLA, DEBORA ROMEO;
KIM, CHONG AE;
PEARSON, PETER LEES;
BIJLSMA, EMILIA;
SZUHAI, KAROLY;
KOK, FERNANDO;
VIANNA-MORGANTE, ANGELA MARIA;
ROSENBERG, CARLA.
Two distinct regions in 2q24.2-q24.3 associated with idiopathic epilepsy.
Epilepsia,
v. 51,
n. 12,
p. 2457-2460,
DEC 2010.
Web of Science Citations: 30.
CAPELLI, LEONARDO PIRES;
RODRIGUES GONCALVES, MARCIA RUBIA;
LEITE, CLAUDIA C.;
BARBOSA, EGBERTO R.;
NITRINI, RICARDO;
VIANNA-MORGANTE, ANGELA M.
The fragile x-associated tremor and ataxia syndrome (FXTAS).
Arquivos de Neuro-Psiquiatria,
v. 68,
n. 5,
p. 791-798,
OCT 2010.
Web of Science Citations: 8.
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,
JAN 2010.
Web of Science Citations: 20.
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,
JUN 2009.
Web of Science Citations: 19.
KERKIS, IRINA;
AMBROSIO, CARLOS E.;
KERKIS, ALEXANDRE;
MARTINS, DANIELE S.;
ZUCCONI, EDER;
FONSECA, SIMONE A. S.;
CABRAL, ROSA M.;
MARANDUBA, CARLOS M. C.;
GAIAD, THAIS P.;
MORINI, ADRIANA C.;
VIEIRA, NATASSIA M.;
BROLIO, MARINA P.;
SANT'ANNA, OSVALDO A.;
MIGLINO, MARIA A.;
ZATZ, MAYANA.
Early transplantation of human immature dental pulp stem cells from baby teeth to golden retriever muscular dystrophy (GRMD) dogs: Local or systemic?.
JOURNAL OF TRANSLATIONAL MEDICINE,
v. 6,
JUL 3 2008.
Web of Science Citations: 101.
YEH, E.;
KIMURA, L.;
ERRERA, F. I. V.;
ANGELI, C. B.;
MINGRONI-NETTO, R. C.;
SILVA, M. E. R.;
CANANI, L. H. S.;
PASSOS-BUENO, M. R.
Association of polymorphisms at the ADIPOR1 regulatory region with type 2 diabetes and body mass index in a Brazilian population with European or African ancestry.
Brazilian Journal of Medical and Biological Research,
v. 41,
n. 6,
p. 468-472,
JUN 2008.
Web of Science Citations: 3.
ALVES NEVES, WALTER;
OKUMURA, MARIA MERCEDES M.;
GONZÁLEZ-JOSÉ, ROLANDO;
FIGUTI, LEVY;
EGGERS, SABINE;
BLASIS, PAULO ANTONIO DANTAS DE;
HUBBE, MARK OLIVER ROHRIG.
A new early Holocene human skeleton from Brazil: implications for the settlement of the New World.
Journal of Human Evolution,
v. 48,
n. 4,
p. 403-411,
Apr. 2005.