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Ana C V Krepischi
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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
4262006
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
3512007
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
2662006
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
2582008
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
2012014
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
1542008
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
1402006
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
1342012
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
1172013
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
1062014
Germline copy number variations and cancer predisposition
ACV Krepischi, PL Pearson, C Rosenberg
Future oncology 8 (4), 441-450, 2012
922012
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
862006
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
772016
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
702017
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
702012
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
632013
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
612012
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
582015
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
562010
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
552006
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