Carla Rosenberg
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Explore the profile of Carla Rosenberg including associated specialties, affiliations and a list of published articles.
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130
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2617
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Recent Articles
11.
Carvalho L, Branco E, Sarafian R, Kobayashi G, de Araujo F, Souza L, et al.
Gene
. 2023 Apr;
871:147424.
PMID: 37054903
Xia-Gibbs syndrome (XGS) is a syndromic form of intellectual disability caused by heterozygous AHDC1 variants, but the pathophysiological mechanisms underlying this syndrome are still unclear. In this manuscript, we describe...
12.
Chaves L, Carvalho L, Tolezano G, Pires S, Costa S, de Scliar M, et al.
Mol Neurobiol
. 2023 Mar;
60(7):3758-3769.
PMID: 36943625
Intellectual disability (ID) is an early onset impairment in cognitive functioning and adaptive behavior, affecting approximately 1% of the population worldwide. Extreme skewing of X-chromosome inactivation (XCI) can be associated...
13.
Tolezano G, Bastos G, da Costa S, Freire B, Homma T, Honjo R, et al.
J Autism Dev Disord
. 2022 Dec;
54(3):1181-1212.
PMID: 36502452
Microcephaly presents heterogeneous genetic etiology linked to several neurodevelopmental disorders (NDD). Copy number variants (CNVs) are a causal mechanism of microcephaly whose investigation is a crucial step for unraveling its...
14.
Carvalho L, Pinto C, Scliar M, Otto P, Krepischi A, Rosenberg C
Am J Med Genet A
. 2022 Nov;
191(2):570-574.
PMID: 36333968
The causal link between variants in the SCAF4 gene and a syndromic form of intellectual disability (ID) was established in 2020 by Fliedner et al. Since then, no additional cases...
15.
Ma C, Chen N, Jolly A, Zhao S, Coban-Akdemir Z, Tian W, et al.
Genet Med
. 2022 Sep;
24(11):2262-2273.
PMID: 36112137
Purpose: Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) is characterized by congenital absence of the uterus, cervix, and the upper part of the vagina in females. Whole-gene deletion and loss-of-function variants in TBX6 have...
16.
Krepischi A, Villela D, da Costa S, Mazzonetto P, Schauren J, Migliavacca M, et al.
Sci Rep
. 2022 Sep;
12(1):15184.
PMID: 36071085
Chromosomal microarray analysis (CMA) has been recommended and practiced routinely since 2010 both in the USA and Europe as the first-tier cytogenetic test for patients with unexplained neurodevelopmental delay/intellectual disability,...
17.
Montenegro M, Camilotti D, Quaio C, Gasparini Y, Zanardo E, Rangel-Santos A, et al.
J Pediatr
. 2022 Sep;
252:56-60.e2.
PMID: 36067875
Objective: To report the effectiveness of early molecular diagnosis in the clinical management of rare diseases, presenting 8 patients with 8p23.1DS who have clinical features that overlap the phenotypic spectrum...
18.
Carvalho L, DAngelo C, Villela D, da Costa S, Jorge A, Tojal Da Silva I, et al.
Int J Obes (Lond)
. 2022 May;
46(9):1582-1586.
PMID: 35597848
Background: Syndromic obesity (SO) refers to obesity with additional phenotypes, including intellectual disability (ID)/developmental delay (DD), dysmorphic features, or organ-specific abnormalities. SO is rare, has high phenotypic variability, and frequently...
19.
Aguiar T, Teixeira A, Scliar M, Sobral de Barros J, Lemes R, Souza S, et al.
Front Genet
. 2022 May;
13:858396.
PMID: 35495172
The ultrarare hepatoblastoma (HB) is the most common pediatric liver cancer. HB risk is related to a few rare syndromes, and the molecular bases remain elusive for most cases. We...
20.
Barros J, Aguiar T, Costa S, Rivas M, Cypriano M, Toledo S, et al.
Front Oncol
. 2021 Dec;
11:741526.
PMID: 34956867
Hepatoblastoma (HB) is a rare embryonal tumor, although it is the most common pediatric liver cancer. The aim of this study was to provide an accurate cytogenomic profile of this...