Articles with public access mandates - Ana C V KrepischiLearn more
Not available anywhere: 8
Understanding the landscape of X-linked variants causing intellectual disability in females through extreme X chromosome inactivation skewing
EQ Vianna, RM Piergiorge, AP Gonçalves, JM Dos Santos, V Calassara, ...
Molecular neurobiology 57, 3671-3684, 2020
Mandates: US National Institutes of Health
Copy number variations in a Brazilian cohort with autism spectrum disorders highlight the contribution of cell adhesion genes
CIS Costa, EM da Silva Montenegro, M Zarrei, E de Sá Moreira, IMW Silva, ...
Clinical Genetics 101 (1), 134-141, 2022
Mandates: Fundação de Amparo à Pesquisa do Estado de São Paulo
Genetic investigation of syndromic forms of obesity
LML Carvalho, CS D’Angelo, D Villela, SS da Costa, AA de Lima Jorge, ...
International Journal of Obesity 46 (9), 1582-1586, 2022
Mandates: Fundação de Amparo à Pesquisa do Estado de São Paulo
Congenital limb deficiency: Genetic investigation of 44 individuals presenting mainly longitudinal defects in isolated or syndromic forms
LA da Rocha, LVL Pires, GL Yamamoto, JR Magliocco Ceroni, RS Honjo, ...
Clinical Genetics 100 (5), 615-623, 2021
Mandates: Fundação de Amparo à Pesquisa do Estado de São Paulo
A small supernumerary xp marker chromosome including genes NR0B1 and MAGEB causing partial gonadal dysgenesis and gonadoblastoma
MY Nishi, JAD Faria Júnior, ACV Krepischi, DR de Moraes, SS da Costa, ...
Sexual Development 16 (1), 55-63, 2022
Mandates: Fundação de Amparo à Pesquisa do Estado de São Paulo
Burden of rare copy number variants in microcephaly: A brazilian cohort of 185 microcephalic patients and review of the literature
GC Tolezano, GC Bastos, SS da Costa, BL Freire, TK Homma, RS Honjo, ...
Journal of Autism and Developmental Disorders 54 (3), 1181-1212, 2024
Mandates: Wellcome Trust
LHX6 promoter hypermethylation in oncological pediatric patients conceived by IVF
GD Dangoni, ACB Teixeira, CSC Vince, EM Novak, TM Gimenez, ...
Journal of Developmental Origins of Health and Disease 14 (1), 140-145, 2023
Mandates: Fundação de Amparo à Pesquisa do Estado de São Paulo, US National Institutes …
Expanding the phenotype of 8p23. 1 deletion syndrome: eight new cases resembling the clinical spectrum of 22q11. 2 microdeletion
MM Montenegro, D Camilotti, CRDAC Quaio, Y Gasparini, ÉA Zanardo, ...
The Journal of Pediatrics 252, 56-60. e2, 2023
Mandates: Fundação de Amparo à Pesquisa do Estado de São Paulo
Available somewhere: 24
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
Mandates: German Research Foundation
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
Mandates: US National Institutes of Health, Howard Hughes Medical Institute
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
Mandates: Swedish Research Council
Methylome profiling of healthy and central precocious puberty girls
DS Bessa, M Maschietto, CF Aylwin, APM Canton, VN Brito, DB Macedo, ...
Clinical epigenetics 10, 1-18, 2018
Mandates: US National Institutes of Health
Dosage changes of a segment at 17p13. 1 lead to intellectual disability and microcephaly as a result of complex genetic interaction of multiple genes
CMB Carvalho, S Vasanth, M Shinawi, C Russell, MB Ramocki, ...
The American Journal of Human Genetics 95 (5), 565-578, 2014
Mandates: US National Institutes of Health
HDAC1-dependent repression of markers of hepatocytes and P21 is involved in development of pediatric liver cancer
M Rivas, ME Johnston II, R Gulati, M Kumbaji, TFM Aguiar, L Timchenko, ...
Cellular and Molecular Gastroenterology and Hepatology 12 (5), 1669-1682, 2021
Mandates: US National Institutes of Health
Mechanistic insights revealed by a UBE2A mutation linked to intellectual disability
JF de Oliveira, PFV do Prado, SS da Costa, ML Sforça, C Canateli, ...
Nature chemical biology 15 (1), 62-70, 2019
Mandates: US National Institutes of Health
Cytogenetically visible inversions are formed by multiple molecular mechanisms
M Pettersson, CM Grochowski, J Wincent, J Eisfeldt, AM Breman, ...
Human Mutation 41 (11), 1979-1998, 2020
Mandates: US National Institutes of Health, Swedish Research Council
Molecular and clinical delineation of the 17q22 microdeletion phenotype
T Laurell, J Lundin, BM Anderlid, JL Gorski, G Grigelioniene, SJL Knight, ...
European Journal of Human Genetics 21 (10), 1085-1092, 2013
Mandates: Swedish Research Council, Wellcome Trust
Family-based whole-exome sequencing identifies rare variants potentially related to cutaneous melanoma predisposition in Brazilian melanoma-prone families
F Fidalgo, GT Torrezan, BCS Sá, BDF Barros, LF Moredo, R Valieris, ...
PLoS One 17 (1), e0262419, 2022
Mandates: Fundação de Amparo à Pesquisa do Estado de São Paulo
DNA methylation patterns suggest the involvement of DNMT3B and TET1 in osteosarcoma development
SF Pires, JS de Barros, SS da Costa, M de Oliveira Scliar, ...
Molecular Genetics and Genomics 298 (3), 721-733, 2023
Mandates: Fundação de Amparo à Pesquisa do Estado de São Paulo
Diagnostic yield of a multigene sequencing approach in children classified as idiopathic short stature
NLM Andrade, MF de Assis Funari, AC Malaquias, PF Collett-Solberg, ...
Endocrine Connections 11 (12), 2022
Mandates: Fundação de Amparo à Pesquisa do Estado de São Paulo
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