E-LIB Suche - Ergebnisse für: Meloni, Vera de Freitas Ayres

1

Cytogenomic characterization of an unexpected 17.6Mb 9p del..:

Meloni, Vera de Freitas Ayres ; Piazzon, Flavia Balbo ; Soares, Maria de Fátima de Faria...
Gene. 496 (2012) 1 - p. 59-62 , 2012

Link: https://doi.org/10.1016/..

2

Síndrome da deleção do braço curto do cromossomo 18: avalia..:

Meloni, Vera de Freitas Ayres UNIFESP
https://sucupira.capes.gov.br/sucupira/public/consultas/coleta/trabalhoConclusao/viewTrabalhoConclusao.jsf?popup=true&id_trabalho=3772315. , 2016

Link: http://repositorio.unife..

3

Mechanisms of ring chromosome formation, ring instability a..:

Guilherme, Roberta dos Santos UNIFESP ; Meloni, Vera de Freitas Ayres UNIFESP ; Kim, Chong A...
Bmc Medical Genetics. , 2011

Link: http://repositorio.unife..

4

Cytogenetic and molecular evaluation and 20‐year follow‐up ..:

Guilherme, Roberta Santos ; de Freitas Ayres Meloni, Vera ; Sodré, Claudete Palmer...
American Journal of Medical Genetics Part A. 152A (2010) 11 - p. 2865-2869 , 2010

Link: https://doi.org/10.1002/..

5

Ring chromosome instability evaluation in six patients with..:

Sodre, Claudete Palmer UNIFESP ; Guilherme, Roberta dos Santos UNIFESP ; Meloni, Vera de Freitas Ayres UNIFESP...
Genetics and Molecular Research. , 2010

Link: http://repositorio.unife..

6

Allan-Herndon-Dudley syndrome in a female patient and relat..:

Olivati, Caroline ; Favilla, Bianca Pereira ; Freitas, Erika Lopes...
Molecular Genetics and Metabolism Reports. 31 (2022) - p. 100879 , 2022

Link: https://doi.org/10.1016/..

7

Allan-Herndon-Dudley syndrome in a female patient and relat..:

Caroline Olivati ; Bianca Pereira Favilla ; Erika Lopes Freitas...
http://www.sciencedirect.com/science/article/pii/S2214426922000398. , 2022

Link: https://doi.org/10.1016/..

8

Fold-back mechanism originating inv-dup-del rearrangements ..:

Burssed, Bruna ; Zamariolli, Malú ; Favilla, Bianca Pereira...
Chromosome Research. 31 (2023) 1 - p. , 2023

Link: https://doi.org/10.1007/..

9

CEDNIK syndrome in a Brazilian patient with compound hetero..:

Nunes, Natália ; Zamariolli, Malú ; Dantas, Anelisa Gollo...
European Journal of Medical Genetics. 65 (2022) 3 - p. 104440 , 2022

Link: https://doi.org/10.1016/..

10

Spread of X‐chromosome inactivation into autosomal regions ..:

Favilla, Bianca Pereira ; Meloni, Vera Ayres ; Perez, Ana Beatriz...
American Journal of Medical Genetics Part A. 185 (2021) 8 - p. 2295-2305 , 2021

Link: https://doi.org/10.1002/..

11

Breakpoint mapping at nucleotide resolution in X-autosome b..:

Moysés-Oliveira, Mariana ; Di-Battista, Adriana ; Zamariolli, Malú...
European Journal of Human Genetics. 27 (2019) 5 - p. 760-771 , 2019

Link: https://doi.org/10.1038/..

12

X‐linked intellectual disability related genes disrupted by..:

Moysés‐Oliveira, Mariana ; Guilherme, Roberta Santos ; Meloni, Vera Ayres...
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics. 168 (2015) 8 - p. 669-677 , 2015

Link: https://doi.org/10.1002/..

13

Genetic mechanisms leading to primary amenorrhea in balance..:

Moysés-Oliveira, Mariana ; Guilherme, Roberta dos Santos ; Dantas, Anelisa Gollo...
Fertility and Sterility. 103 (2015) 5 - p. 1289-1296.e2 , 2015

Link: https://doi.org/10.1016/..

14

Position effect modifying gene expression in a patient with..:

Guilherme, Roberta Santos ; Moysés-Oliveira, Mariana ; Dantas, Anelisa Gollo...
Journal of Applied Genetics. 57 (2015) 2 - p. 183-187 , 2015

Link: https://doi.org/10.1007/..

15

Cytogenomic delineation and clinical follow‐up of two sibli..:

Meloni, Vera Ayres ; Guilherme, Roberta Santos ; Oliveira, Mariana Moyses...
American Journal of Medical Genetics Part A. 164 (2014) 9 - p. 2378-2384 , 2014

Link: https://doi.org/10.1002/..