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CEGH-CEL - Human Genome and Stem Cell Research Center
Abstract
The Human Genome Research Center (HGRC-CEPID I) was initiated in 2000 with the main goal of increasing our basic knowledge and diagnosis of prevalent genetic diseases in the Brazilian population. The HGRC concentrated largely on Mendelian disorders, mainly neuromuscular, craniofacial, and mental disability. The scope was expanded in 2005 by incorporating stem-cell research, both as a tool to understand gene expression and differentiation in genetic disorders and to evaluate its potential in disease therapy. Our research has allowed us to address questions on the genetic regulation of particular complex disorders such as autism and various neurodegenerative diseases. However, the unanticipated complexity of the transcriptional mechanisms regulating gene expression in humans that emerged from the Human Genome Project, and the modest advances in improving the effectiveness of genetic health care have opened new fields of investigation. In this CEPID 11 application, we have expanded the scientific breadth to include ageing and degeneration and how factors such as genome instability contribute to the aging process; the role of imprinting mechanisms on disease manifestation; which factors determine differences in the rate of brain degeneration between individuals, which constitutes a rapidly increasing health care burdon as the average life-span of the world population rises; what determines phenotypic variability between individuals carrying the same mutation. To address these questions we will use up to date approaches, particularly the use of second generation sequencing and sophisticated cell sorting, incorporate a much broader base of scientific expertise, optimize inter-group synergy as well as national and international research collaboration. The plan also contributes to translational medicine mainly in the application of stem-cells in preclinical studies and therapeutic trials for particular genetic disorders. The great number of patients with different genetic disorders that have been ascertained and registered in our center, the largest one in Latin America, and the ethnic variability of the Brazilian population provides an extremely rich foundation for the proposed studies. We are positive that the knowledge gained from CEPID 11 will have an important impact on genetic health care in Brazil. However, such an ambitious and integrated program can only be expedited by the flexibility and long term security offered by CEPID funding. (AU)
| Articles published in Agência FAPESP about the research grant |
| Identified genetic factors that make babies susceptible to complications from Zika |
| Articles published in Revista Pesquisa FAPESP about the project |
| One mutation, several defects |
Scientific publications
(80)
(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)
MOREIRA DIAS, ALEX MARCEL;
LEZIROVITZ, KARINA;
NICASTRO, FERNANDA STAVALE;
MENDES, BEATRIZ C. A.;
MINGRONI-NETTO, REGINA CELIA.
Further evidence for loss-of-function mutations in the CEACAM16 gene causing nonsyndromic autosomal recessive hearing loss in humans.
JOURNAL OF HUMAN GENETICS,
v. 64,
n. 3,
p. 257-260,
MAR 2019.
Web of Science Citations: 0.
MELO, KARLA P.;
SILVA, CAROLLINY M.;
ALMEIDA, MICHAEL F.;
CHAVES, RODRIGO S.;
MARCOURAKIS, TANIA;
CARDOSO, SANDRA M.;
DEMASI, MARILENE;
NETTO, LUIS E. S.;
FERRARI, MERARI F. R.
Mild Exercise Differently Affects Proteostasis and Oxidative Stress on Motor Areas During Neurodegeneration: A Comparative Study of Three Treadmill Running Protocols.
NEUROTOXICITY RESEARCH,
v. 35,
n. 2,
p. 410-420,
FEB 2019.
Web of Science Citations: 0.
DE OLIVEIRA, JULIANA FERREIRA;
VITAL DO PRADO, PAULA FAVORETTI;
DA COSTA, SILVIA SOUZA;
SFORCA, MAURICIO LUIS;
CANATELI, CAMILA;
RANZANI, AMERICO TAVARES;
MASCHIETTO, MARIANA;
LOPES DE OLIVEIRA, PAULO SERGIO;
OTTO, PAULO A.;
KLEVIT, RACHEL E.;
VICTORINO KREPISCHI, ANA CRISTINA;
ROSENBERG, CARLA;
FRANCHINI, KLEBER GOMES.
Mechanistic insights revealed by a UBE2A mutation linked to intellectual disability.
Nature Chemical Biology,
v. 15,
n. 1,
p. 62+,
JAN 2019.
Web of Science Citations: 1.
MORENO, NATALIA CESTARI;
MACHADO GARCIA, CAMILA CARRIAO;
REILY ROCHA, CLARISSA RIBEIRO;
MUNFORD, VERIDIANA;
MARTINS MENCK, CARLOS FREDERICO.
ATR/Chk1 Pathway is Activated by Oxidative Stress in Response to UVA Light in Human Xeroderma Pigmentosum Variant Cells.
Photochemistry and Photobiology,
v. 95,
n. 1,
p. 345-354,
JAN 2019.
Web of Science Citations: 1.
PEREIRA, LARISSA VILELA;
BENTO, RICARDO FERREIRA;
CRUZ, DAYANE B.;
MARCHI, CLAUDIA;
SALOMONE, RAQUEL;
OITICICCA, JEANNE;
COSTA, MARCIO PAULINO;
HADDAD, LUCIANA A.;
MINGRONI-NETTO, REGINA CELIA;
ZABEU ROSSI COSTA, HELOISA JULIANA.
Stem Cells from Human Exfoliated Deciduous Teeth (SHED) Differentiate in vivo and Promote Facial Nerve Regeneration.
CELL TRANSPLANTATION,
v. 28,
n. 1,
p. 55-64,
JAN 2019.
Web of Science Citations: 0.
MELO, THAIANY QUEVEDO;
COPRAY, SJEF J. C. V. M.;
FERRARI, MERARI F. R.
Alpha-Synuclein Toxicity on Protein Quality Control, Mitochondria and Endoplasmic Reticulum.
Neurochemical Research,
v. 43,
n. 12,
p. 2212-2223,
DEC 2018.
Web of Science Citations: 0.
DE FARIAS, ALLYSSON ALLAN;
NUNES, KELLY;
LEMES, RENAN BARBOSA;
MOURA, RONALD;
FERNANDES, GUSTAVO RIBEIRO;
MELO, UIRA SOUTO;
ZATZ, MAYANA;
KOK, FERNANDO;
SANTOS, SILVANA.
Origin and age of the causative mutations in KLC2, IMPA1, MED25 and WNT7A unravelled through Brazilian admixed populations.
SCIENTIFIC REPORTS,
v. 8,
NOV 8 2018.
Web of Science Citations: 0.
BATISSOCO, ANA C.;
SALAZAR-SILVA, RODRIGO;
OITICICA, JEANNE;
BENTO, RICARDO F.;
MINGRONI-NETTO, REGINA C.;
HADDAD, LUCIANA A.
A Cell Junctional Protein Network Associated with Connexin-26.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES,
v. 19,
n. 9
SEP 2018.
Web of Science Citations: 1.
DOS SANTOS, ALEXSANDRO;
CAMPAGNARI, FRANCINE;
VICTORINO KREPISCHI, ANA CRISTINA;
RIBEIRO CAMARA, MARIA DE LOURDES;
DE ARRUDA BRASIL, RITA DE CASSIA E.;
VIEIRA, LIGIA;
VIANNA-MORGANTE, ANGELA M.;
OTTO, PAULO A.;
PEARSON, PETER L.;
ROSENBERG, CARLA.
Insight into the mechanisms and consequences of recurrent telomere capture associated with a sub-telomeric deletion.
Chromosome Research,
v. 26,
n. 3,
p. 191-198,
SEP 2018.
Web of Science Citations: 0.
GOMES, JULIANA P.;
COATTI, GIULIANA C.;
VALADARES, MARCOS C.;
ASSONI, AMANDA F.;
PELATTI, MAYRA V.;
SECCO, MARIANE;
ZATZ, MAYANA.
Human Adipose-Derived CD146(+) Stem Cells Increase Life Span of a Muscular Dystrophy Mouse Model More Efficiently than Mesenchymal Stromal Cells.
DNA AND CELL BIOLOGY,
v. 37,
n. 9,
p. 798-804,
SEP 2018.
Web of Science Citations: 0.
MELO, UIRA SOUTO;
LEITE, FELIPE DE SOUZA;
COSTA, SILVIA;
ROSENBERG, CARLA;
ZATZ, MAYANA.
A fast method to reprogram and CRISPR/Cas9 gene editing from erythroblasts.
STEM CELL RESEARCH,
v. 31,
p. 52-54,
AUG 2018.
Web of Science Citations: 0.
GRIESI-OLIVEIRA, KARINA;
SUZUKI, ANGELA MAY;
ALVES, ALINE YASUDA;
CINTRA NUNES MAFRA, ANA CAROLINA;
YAMAMOTO, GUILHERME LOPES;
EZQUINA, SUZANA;
MAGALHAES, YULI THAMIRES;
FORTI, FABIO LUIS;
SERTIE, ANDREA LAURATO;
ZACHI, ELAINE CRISTINA;
VADASZ, ESTEVAO;
PASSOS-BUENO, MARIA RITA.
Actin cytoskeleton dynamics in stem cells from autistic individuals.
SCIENTIFIC REPORTS,
v. 8,
JUL 24 2018.
Web of Science Citations: 0.
ARAUJO, BRUNO H. S.;
KAID, CAROLINI;
DE SOUZA, JANAINA S.;
DA SILVA, SERGIO GOMES;
GOULART, ERNESTO;
CAIRES, LUIZ C. J.;
MUSSO, CAMILA M.;
TORRES, LAILA B.;
FERRASA, ADRIANO;
HERAI, ROBERTO;
ZATZ, MAYANA;
OKAMOTO, OSWALDO K.;
CAVALHEIRO, ESPER A.
Down Syndrome iPSC-Derived Astrocytes Impair Neuronal Synaptogenesis and the mTOR Pathway In Vitro.
Molecular Neurobiology,
v. 55,
n. 7,
p. 5962-5975,
JUL 2018.
Web of Science Citations: 1.
MALCHER, CAROLINA;
YAMAMOTO, GUILHERME L.;
BURNHAM, PHILIP;
EZQUINA, SUZANA A. M.;
LOURENCO, V, NAILA C.;
BALKASSMI, SAHILLA;
MARCO ANTONIO, DAVID S.;
HSIA, GABRIELLA S. P.;
GOLLOP, THOMAZ;
PAVANELLO, RITA C.;
LOPES, MARCO ANTONIO;
BAKKER, EGBERT;
ZATZ, MAYANA;
BERTOLA, DEBORA;
DE VLAMINCK, IWIJN;
PASSOS-BUENO, MARIA RITA.
Development of a comprehensive noninvasive prenatal test.
GENETICS AND MOLECULAR BIOLOGY,
v. 41,
n. 3,
p. 545-554,
JUL-SEP 2018.
Web of Science Citations: 1.
KAID, CAROLINI;
GOULART, ERNESTO;
CAIRES-JUNIOR, LUIZ C.;
ARAUJO, BRUNO H. S.;
SOARES-SCHANOSKI, ALESSANDRA;
BUENO, HELOISA M. S.;
TELLES-SILVA, KAYQUE A.;
ASTRAY, RENATO M.;
ASSONI, AMANDA F.;
JUNIOR, ANTONIO F. R.;
VENTINI, DANIELLA C.;
PUGLIA, ANA L. P.;
GOMES, ROSELANE P.;
ZATZ, MAYANA;
OKAMOTO, OSWALDO K.
Zika Virus Selectively Kills Aggressive Human Embryonal CNS Tumor Cells In Vitro and In Vivo.
Cancer Research,
v. 78,
n. 12,
p. 3363-3374,
JUN 15 2018.
Web of Science Citations: 1.
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.
NONOSE, RENATA WATANABE;
LEZIROVITZ, KARINA;
BALESTER DE MELLO AURICCHIO, MARIA TERESA;
BATISSOCO, ANA CARLA;
YAMAMOTO, GUILHERME LOPES;
MINGRONI-NETTO, REGINA CELIA.
Mutation analysis of SLC26A4 (Pendrin) gene in a Brazilian sample of hearing-impaired subjects.
BMC MEDICAL GENETICS,
v. 19,
MAY 8 2018.
Web of Science Citations: 1.
HSIA, GABRIELLA S. P.;
MUSSO, CAMILA M.;
ALVIZI, LUCAS;
BRITO, LUCIANO A.;
KOBAYASHI, GERSON S.;
PAVANELLO, RITA C. M.;
ZATZ, MAYANA;
GARDHAM, ALICE;
WAKELING, EMMA;
ZECHI-CEIDE, ROSELI M.;
BERTOLA, DEBORA;
PASSOS-BUENO, MARIA RITA.
Complexity of the 5 ` Untranslated Region of EIF4A3, a Critical Factor for Craniofacial and Neural Development.
FRONTIERS IN GENETICS,
v. 9,
APR 25 2018.
Web of Science Citations: 0.
KAGUE, E.;
WITTEN, P. E.;
SOENENS, M.;
CAMPOS, C. L.;
LUBIANA, T.;
FISHER, S.;
HAMMOND, C.;
BROWN, K. ROBSON;
PASSOS-BUENO, M. R.;
HUYSSEUNE, A.
Zebrafish sp7 mutants show tooth cycling independent of attachment, eruption and poor differentiation of teeth.
Developmental Biology,
v. 435,
n. 2,
p. 176-184,
MAR 15 2018.
Web of Science Citations: 2.
Large deletion in PIGL: a common mutational mechanism in CHIME syndrome?.
GENETICS AND MOLECULAR BIOLOGY,
v. 41,
n. 1,
p. -,
Mar. 2018.
DE CAIRES, JR., LUIZ CARLOS;
GOULART, ERNESTO;
MELO, UIRASOUTO;
HENRIQUE ARAUJO, BRUNO SILVA;
ALVIZI, LUCAS;
SCHANOSKI, ALESSANDRA SOARES;
DE OLIVEIRA, DANYLLO FELIPE;
KOBAYASHI, GERSON SHIGERU;
GRIESI-OLIVEIRA, KARINA;
MUSSO, CAMILA MANSO;
AMARAL, MURILOSENA;
DASILVA, LUCAS FERREIRA;
ASTRAY, RENATO MANCINI;
SUAREZ-PATINO, SANDRA FERNANDA;
VENTINI, DANIELLA CRISTINA;
DA SILVA, SERGIO GOMES;
YAMAMOTO, GUILHERME LOPES;
EZQUINA, SUZANA;
NASLAVSKY, MICHEL SATYA;
ALVES SILVA, KAYQUE TELLES;
WEINMANN, KARINA;
VAN DER LINDEN, VANESSA;
VAN DER LINDEN, HELIO;
RICARDO DE OLIVEIRA, JOAO MENDES;
MARIA ARRAIS, NIVIA RODRIGUES;
MELO, ADRIANA;
FIGUEIREDO, THALITA;
SANTOS, SILVANA;
GOES MEIRA, JOANNA CASTRO;
PASSOS, SAULO DUARTE;
DE ALMEIDA, ROQUE PACHECO;
BISPO, ANA JOVINABARRETO;
CAVALHEIRO, ESPERABRAO;
KALIL, JORGE;
CUNHA-NETO, EDECIO;
NAKAYA, HELDER;
SANTOS, ROBERT ANDREATA;
DE SOUZA FERREIRA, LUIS CARLOS;
VERJOVSKI-ALMEIDA, SERGIO;
HO, PAULO LEE;
PASSOS-BUENO, MARIA RITA;
ZATZ, MAYANA.
Discordant congenital Zika syndrome twins show differential in vitro viral susceptibility of neural progenitor cells.
NATURE COMMUNICATIONS,
v. 9,
FEB 2 2018.
Web of Science Citations: 6.
MEHRJOUY, MANA M.;
FONSECA, ANA CAROLINA S.;
EHMKE, NADJA;
PASKULIN, GIORGIO;
NOVELLI, ANTONIO;
BENEDICENTI, FRANCESCO;
MENCARELLI, MARIA ANTONIETTA;
RENIERI, ALESSANDRA;
BUSA, TIFFANY;
MISSIRIAN, CHANTAL;
HANSEN, CLAUS;
ABE, KIKUE TERADA;
SPECK-MARTINS, CARLOS EDUARDO;
VIANNA-MORGANTE, ANGELA M.;
BAK, MADS;
TOMMERUP, NIELS.
Regulatory variants of FOXG1 in the context of its topological domain organisation.
European Journal of Human Genetics,
v. 26,
n. 2,
p. 186-196,
FEB 2018.
Web of Science Citations: 0.
GUIMARAES MARQUES, MARCIA J.;
REYES-GARCIA, SELVIN Z.;
MARQUES-CARNEIRO, JOSE E.;
LOPES-SILVA, LEONARDO B.;
ANDERSEN, MONICA L.;
CAVALHEIRO, ESPER A.;
SCORZA, FULVIO A.;
SCORZA, CARLA A.
Long-term Potentiation Decay and Poor Long-lasting Memory Process in the Wild Rodents Proechimys from Brazil's Amazon Rainforest.
FRONTIERS IN BEHAVIORAL NEUROSCIENCE,
v. 12,
JAN 23 2018.
Web of Science Citations: 1.
WHITE, JANSON J.;
MAZZEU, JULIANA F.;
COBAN-AKDEMIR, ZEYNEP;
BAYRAM, YAVUZ;
BAHRAMBEIGI, VAHID;
HOISCHEN, ALEXANDER;
VAN BON, BREGJE W. M.;
GEZDIRICI, ALPER;
GULEC, ELIF YILMAZ;
RAMOND, FRANCIS;
TOURAINE, RENAUD;
THEVENON, JULIEN;
SHINAWI, MARWAN;
BEAVER, ERIN;
HEELEY, JENNIFER;
HOOVER-FONG, JULIE;
DURMAZ, CEREN D.;
KARABULUT, HALIL GURHAN;
MARZIOGLU-OZDEMIR, EBRU;
CAYIR, ATILLA;
DUZ, MEHMET B.;
SEVEN, MEHMET;
PRICE, SUSAN;
FERREIRA, BARBARA MERFORT;
VIANNA-MORGANTE, ANGELA M.;
ELLARD, SIAN;
PARRISH, ANDREW;
STALS, KAREN;
FLORES-DABOUB, JOSUE;
JHANGIANI, SHALINI N.;
GIBBS, RICHARD A.;
BRUNNER, HAN G.;
SUTTON, V. REID;
LUPSKI, JAMES R.;
CARVALHO, CLAUDIA M. B.;
MENDELIAN, BAYLOR-HOPKINS CTR.
WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome.
American Journal of Human Genetics,
v. 102,
n. 1,
p. 27-43,
JAN 4 2018.
Web of Science Citations: 8.
ANDRE ISHIY, FELIPE AUGUSTO;
FANGANIELLO, ROBERTO DALTO;
KOBAYASHI, GERSON SHIGERU;
KAGUE, ERIKA;
KURIKI, PATRICIA SEMEDO;
PASSOS-BUENO, MARIA RITA.
CD105 is regulated by hsa-miR-1287 and its expression is inversely correlated with osteopotential in SHED.
BONE,
v. 106,
p. 112-120,
JAN 2018.
Web of Science Citations: 0.
CERONI, JOSE R. M.;
YAMAMOTO, GUILHERME L.;
HONJO, RACHEL S.;
KIM, CHONG A.;
PASSOS-BUENO, MARIA R.;
BERTOLA, DEBORA R.
Large deletion in PIGL: a common mutational mechanism in CHIME syndrome?.
GENETICS AND MOLECULAR BIOLOGY,
v. 41,
n. 1,
p. 85-91,
JAN-MAR 2018.
Web of Science Citations: 0.
MASOTTI, C.;
BRITO, L. A.;
NICA, A. C.;
LUDWIG, K. U.;
NUNES, K.;
SAVASTANO, C. P.;
MALCHER, C.;
FERREIRA, S. G.;
KOBAYASHI, G. S.;
BUENO, D. F.;
ALONSO, N.;
FRANCO, D.;
ROJAS-MARTINEZ, A.;
DOS SANTOS, S. E.;
GALANTE, P. A.;
MEYER, D.;
HUENEMEIER, T.;
MANGOLD, E.;
DERMITZAKIS, E. T.;
PASSOS-BUENO, M. R.
MRPL53, a New Candidate Gene for Orofacial Clefting, Identified Using an eQTL Approach.
JOURNAL OF DENTAL RESEARCH,
v. 97,
n. 1,
p. 33-40,
JAN 2018.
Web of Science Citations: 0.
Development of a comprehensive noninvasive prenatal test.
GENETICS AND MOLECULAR BIOLOGY,
n. ahead,
p. -,
2018.
Large deletion in PIGL: a common mutational mechanism in CHIME syndrome?.
GENETICS AND MOLECULAR BIOLOGY,
n. ahead,
p. -,
2018.
CARNEIRO, THAISE N. R.;
KREPISCHI, ANA C. V.;
COSTA, SILVIA S.;
DA SILVA, ISRAEL TOJAL;
VIANNA-MORGANTE, ANGELA M.;
VALIERIS, RENAN;
EZQUINA, SUZANA A. M.;
BERTOLA, DEBORA R.;
OTTO, PAULO A.;
ROSENBERG, CARLA.
Utility of trio-based exome sequencing in the elucidation of the genetic basis of isolated syndromic intellectual disability: illustrative cases.
APPLICATION OF CLINICAL GENETICS,
v. 11,
p. 93-98,
2018.
Web of Science Citations: 0.
HOMMA, THAIS K.;
KREPISCHI, ANA C. V.;
FURUYA, TATIANE K.;
HONJO, RACHEL S.;
MALAQUIAS, ALEXSANDRA C.;
BERTOLA, DEBORA R.;
COSTA, SILVIA S.;
CANTON, ANA P.;
ROELA, ROSIMEIRE A.;
FREIRE, BRUNA L.;
KIM, CHONG A.;
ROSENBERG, CARLA;
JORGE, ALEXANDER A. L.
Recurrent Copy Number Variants Associated with Syndromic Short Stature of Unknown Cause.
Hormone Research in Paediatrics,
v. 89,
n. 1,
p. 13-21,
2018.
Web of Science Citations: 2.
VILLELA, DARINE;
SUEMOTO, CLAUDIA K.;
LEITE, RENATA;
PASQUALUCCI, CARLOS AUGUSTO;
GRINBERG, LEA T.;
PEARSON, PETER;
ROSENBERG, CARLA.
Increased DNA Copy Number Variation Mosaicism in Elderly Human Brain.
NEURAL PLASTICITY,
2018.
Web of Science Citations: 1.
ALVES, LEANDRO U.;
SANTOS, SILVANA;
MUSSO, CAMILA M.;
EZQUINA, SUZANA A. M.;
OPITZ, JOHN M.;
KOK, FERNANDO;
OTTO, PAULO A.;
MINGRONI-NETTO, REGINA C.
Santos syndrome is caused by mutation in the WNT7A gene.
JOURNAL OF HUMAN GENETICS,
v. 62,
n. 12,
p. 1073-1078,
DEC 2017.
Web of Science Citations: 1.
NUNES, BRUNO GHIROTTO;
LOURES, FLAVIO VIEIRA;
SIQUEIRA BUENO, HELOISA MARIA;
CANGUSSU, ERICA BARONI;
GOULART, ERNESTO;
COATTI, GIULIANA CASTELLO;
CALDINI, ELIA GARCIA;
CONDINO-NETO, ANTONIO;
ZATZ, MAYANA.
Immunoglobulin therapy ameliorates the phenotype and increases lifespan in the severely affected dystrophin-utrophin double knockout mice.
European Journal of Human Genetics,
v. 25,
n. 12,
p. 1388-1396,
DEC 2017.
Web of Science Citations: 0.
VILLELA, DARINE;
COSTA, SILVIA SOUZA;
VIANNA-MORGANTE, ANGELA M.;
KREPISCHI, ANA C. V.;
ROSENBERG, CARLA.
Efficient detection of chromosome imbalances and single nucleotide variants using targeted sequencing in the clinical setting.
EUROPEAN JOURNAL OF MEDICAL GENETICS,
v. 60,
n. 12,
p. 667-674,
DEC 2017.
Web of Science Citations: 0.
MASCHIETTO, MARIANA;
RODRIGUES, TATIANE CRISTINA;
KASHIWABARA, ANDRE YOSHIAKI;
SOUZA DE ARAUJO, ERICA SARA;
MARQUES AGUIAR, TALITA FERREIRA;
LIMA DA COSTA, CECILIA MARIA;
DA CUNHA, ISABELA WERNECK;
VASQUES, LUCIANA DOS REIS;
CYPRIANO, MONICA;
BRENTANI, HELENA;
CAMINADA DE TOLEDO, SILVIA REGINA;
PEARSON, PETER LEES;
CARRARO, DIRCE MARIA;
ROSENBERG, CARLA;
KREPISCHI, ANA C. V.
DNA methylation landscape of hepatoblastomas reveals arrest at early stages of liver differentiation and cancer-related alterations.
ONCOTARGET,
v. 8,
n. 58,
p. 97871-97889,
NOV 17 2017.
Web of Science Citations: 0.
LEE, CHAE SYNG;
FU, HE;
BARATANG, NISSAN;
ROUSSEAU, JUSTINE;
KUMRA, HEENA;
SUTTON, V. REID;
NICETA, MARCELLO;
CIOLFI, ANDREA;
YAMAMOTO, GUILHERME;
BERTOLA, DEBORA;
MARCELIS, CARLO L.;
LUGTENBERG, DORIEN;
BARTULI, ANDREA;
KIM, CHOEL;
HOOVER-FONG, JULIE;
SOBREIRA, NARA;
PAULI, RICHARD;
BACINO, CARLOS;
KRAKOW, DEBORAH;
PARBOOSINGH, JILLIAN;
YAP, PATRICK;
KARIMINEJAD, ARIANA;
MCDONALD, MARIE T.;
ARACENA, MARIANA I.;
LAUSCH, EKKEHART;
UNGER, SHEILA;
SUPERTI-FURGA, ANDREA;
LU, JAMES T.;
COHN, DAN H.;
TARTAGLIA, MARCO;
LEE, BRENDAN H.;
REINHARDT, DIETER P.;
CAMPEAU, PHILIPPE M.;
MENDELIAN, BAYLOR-HOPKINS CTR.
Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with ``Corner Fractures''.
American Journal of Human Genetics,
v. 101,
n. 5,
p. 815-823,
NOV 2 2017.
Web of Science Citations: 5.
GOMES, LUCIANA R.;
MENCK, CARLOS F. M.;
LEANDRO, GIOVANA S.
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Filed patent(s) as a result of this research project
MÉTODO DE PROGNÓSTICO DA AGRESSIVIDADE DE TUMORES E KIT BR1020140155775 - Universidade de São Paulo (USP) . Carolina de Oliveira Rodini; Gabriela Furukawa; Oswaldo Keith Okamoto; Patrícia Benites Gonçalves da Silva - June 2014, 17
Solicitação em análise e dentro do prazo legal de sigilo previsto na legislação BR1020150030169 - Universidade de São Paulo (USP) . Solicitação em análise e dentro do prazo legal de sigilo previsto na legislação - February 2015, 11