Ana C V Krepischi

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carla rosenbergUniversity of Sao PauloVerified email at ib.usp.br
Dirce Maria CarraroHead, Genomics and Molecular Biology Laboratory, AC Camargo HospitalVerified email at cipe.accamargo.org.br
Peter PearsonVisiting Professor Human Genetics, Dept Genetics and Evolutionary Biology, University of Sao PauloVerified email at ib.usp.br
Débora BertolaMédica Geneticista, Universidade de São PauloVerified email at usp.br
Isabela Werneck da CunhaRede D'ORVerified email at rededor.com.br
Mariana MaschiettoBoldrini Children's HospitalVerified email at boldrini.org.br
Maria Isabel Waddington Achatz, MD,...Coordinator, Cancer Genetics Unit, Hospital Sírio-LibanêsVerified email at mochsl.org.br
Karoly SzuhaiLeiden University Medical CenterVerified email at lumc.nl
Cecilia Maria Lima Da CostaAC Camargo Cancer CenterVerified email at accamargo.org.br
Helena BrentaniAssistant Professor, Psychiatry Deparment, Medical School of the University of São PauloVerified email at fm.usp.br
Célia Priszkulnik KoiffmannUniversidade de São Paulo, Instituto de Biociências, Departamento de Genética e Biologia Evolutiva, Professora DoutoraVerified email at ib.usp.br
Maria Rita Passos-BuenoDepartamento de Genetica e Biologia Evolutiva, Instituto de Biociências, Universidade de São PauloVerified email at ib.usp.br
Chong Ae KimProfessora Associada do Departamento de Pediatria FMUSPVerified email at hc.fm.usp.br
Giovana Tardin TorrezanPesquisadora, A C Camargo Cancer CenterVerified email at accamargo.org.br
Tatiane Cristina RodriguesDoutoranda, Universidade de São PauloVerified email at usp.br
Juliana f MazzeuUniversidade de Brasília (UnB)Verified email at unb.br
Fernando KokProfessor Titular, Departamento de Neurologia da FMUSPVerified email at mendelics.com.br
Elisa Napolitano e FerreiraGrupo FleuryVerified email at grupofleury.com.br
Erika SantosCoordenadora de Enfermagem, Hospital Beneficência Portuguesa de São PauloVerified email at bp.org.br
Berenice Bilharinho de MendonçaFaculdade de Medicina da Universidade de São PauloVerified email at usp.br

Ana C V Krepischi

Institute of Biosciences - University of São Paulo - Brazil

Verified email at ib.usp.br

Genetics and epigenetics cancer predisposition genetics of pediatric cancer intellectual disability copy number variation


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Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability C Shaw-Smith, AM Pittman, L Willatt, H Martin, L Rickman, S Gribble, ... Nature genetics 38 (9), 1032-1037, 2006	426	2006
Array CGH identifies reciprocal 16p13. 1 duplications and deletions that predispose to autism and/or mental retardation R Ullmann, G Turner, M Kirchhoff, W Chen, B Tonge, C Rosenberg, ... Human mutation 28 (7), 674-682, 2007	351	2007
Array-CGH detection of micro rearrangements in mentally retarded individuals: clinical significance of imbalances present both in affected children and normal parents C Rosenberg, J Knijnenburg, E Bakker, AM Vianna-Morgante, W Sloos, ... Journal of medical genetics 43 (2), 180-186, 2006	266	2006
Clinical and molecular delineation of the 17q21. 31 microdeletion syndrome DA Koolen, AJ Sharp, JA Hurst, HV Firth, SJL Knight, A Goldenberg, ... Journal of medical genetics 45 (11), 710-720, 2008	258	2008
Recurrent somatic mutation in DROSHA induces microRNA profile changes in Wilms tumour GT Torrezan, EN Ferreira, AM Nakahata, BDF Barros, MTM Castro, ... Nature communications 5 (1), 4039, 2014	202	2014
Genomic imbalances associated with müllerian aplasia C Cheroki, ACV Krepischi-Santos, K Szuhai, V Brenner, CAE Kim, PA Otto, ... Journal of medical genetics 45 (4), 228-232, 2008	154	2008
Whole-genome array-CGH screening in undiagnosed syndromic patients: old syndromes revisited and new alterations ACV Krepischi-Santos, AM Vianna-Morgante, FS Jehee, ... Cytogenetic and genome research 115 (3-4), 254-261, 2006	140	2006
Germline DNA copy number variation in familial and early-onset breast cancer ACV Krepischi, MIW Achatz, EMM Santos, SS Costa, BCG Lisboa, ... Breast Cancer Research 14, 1-8, 2012	134	2012
Comprehensive Analysis of BRCA1, BRCA2 and TP53 Germline Mutation and Tumor Characterization: A Portrait of Early-Onset Breast Cancer in Brazil DM Carraro, MAA Koike Folgueira, BC Garcia Lisboa, EH Ribeiro Olivieri, ... PloS one 8 (3), e57581, 2013	117	2013
Hereditary breast and ovarian cancer: assessment of point mutations and copy number variations in Brazilian patients FC Silva, BCG Lisboa, MCP Figueiredo, GT Torrezan, ÉMM Santos, ... BMC medical genetics 15, 1-11, 2014	106	2014
Germline copy number variations and cancer predisposition ACV Krepischi, PL Pearson, C Rosenberg Future oncology 8 (4), 441-450, 2012	92	2012
Report of a del22q11 in a patient with Mayer‐Rokitansky‐Küster‐Hauser (MRKH) anomaly and exclusion of WNT‐4, RAR‐gamma, and RXR‐alpha as major … C Cheroki, AC Krepischi‐Santos, C Rosenberg, FS Jehee, ... American Journal of Medical Genetics Part A 140 (12), 1339-1342, 2006	86	2006
Genomic imbalances pinpoint potential oncogenes and tumor suppressors in Wilms tumors ACV Krepischi, M Maschietto, EN Ferreira, AG Silva, SS Costa, ... Molecular cytogenetics 9, 1-10, 2016	78	2016
Epigenetics insights into chronic pain: DNA hypomethylation in fibromyalgia—a controlled pilot-study DC De Andrade, M Maschietto, R Galhardoni, G Gouveia, ACV Krepischi, ... Pain 158 (8), 1473-1480, 2017	70	2017
A novel microdeletion syndrome at 3q13. 31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features AM Molin, J Andrieux, DA Koolen, V Malan, M Carella, L Colleaux, ... Journal of medical genetics 49 (2), 104-109, 2012	70	2012
Mutational spectrum of the APC and MUTYH genes and genotype–phenotype correlations in Brazilian FAP, AFAP, and MAP patients GT Torrezan, FCC Da Silva, ÉMM Santos, ACV Krepischi, MIW Achatz, ... Orphanet journal of rare diseases 8, 1-12, 2013	63	2013
Deletion of the RMGA and CHD2 genes in a child with epilepsy and mental deficiency LP Capelli, ACV Krepischi, J Gurgel-Giannetti, MFS Mendes, T Rodrigues, ... European journal of medical genetics 55 (2), 132-134, 2012	61	2012
Co-expression network of neural-differentiation genes shows specific pattern in schizophrenia M Maschietto, AC Tahira, R Puga, L Lima, D Mariani, ... BMC medical genomics 8, 1-15, 2015	58	2015
Two distinct regions in 2q24. 2‐q24. 3 associated with idiopathic epilepsy ACV Krepischi, J Knijnenburg, DR Bertola, CA Kim, PL Pearson, ... Epilepsia 51 (12), 2457-2460, 2010	56	2010
A 17q21. 31 microdeletion encompassing the MAPT gene in a mentally impaired patient MC Varela, ACV Krepischi-Santos, JA Paz, J Knijnenburg, K Szuhai, ... Cytogenetic and genome research 114 (1), 89-92, 2006	55	2006

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