Carlos Eduardo Steiner
Overview
Explore the profile of Carlos Eduardo Steiner including associated specialties, affiliations and a list of published articles.
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Articles
43
Citations
156
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0
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Recent Articles
1.
de Oliveira-Sobrinho R, Vieira T, Steiner C
Mol Syndromol
. 2024 Dec;
15(6):523-530.
PMID: 39634243
Background: MOMO syndrome is a rare disorder with variable presentation and unknown etiology belonging to the overgrowth syndromes group. Case Presentation: The authors describe a patient presenting with severe developmental...
2.
de Oliveira B, Bernardi F, Baiochi J, Neiva M, Artifon M, Vergara A, et al.
Orphanet J Rare Dis
. 2024 Oct;
19(1):405.
PMID: 39478612
Background: The Brazilian Policy for Comprehensive Care for People with Rare Diseases was implemented in 2014; however, national epidemiological data on rare diseases (RDs) are scarce and mainly focused on...
3.
Tresbach R, Sperb-Ludwig F, Ligabue-Braun R, Bitencourt F, Tonon T, de Souza C, et al.
Mol Genet Metab
. 2024 Sep;
143(1-2):108569.
PMID: 39270351
Biallelic pathogenic variants cause maple syrup urine disease (MSUD) in one of the branched-chain α-keto acid dehydrogenase (BCKDH) complex genes (BCKDHA, BCKDHB, DBT, DLD, and PPM1K) leading to the accumulation...
4.
de Oliveira K, Simoes L, Dos Santos A, Steiner C
Cytogenet Genome Res
. 2024 Aug;
164(3-4):139-147.
PMID: 39159616
Introduction: Williams-Beuren syndrome is a contiguous gene syndrome caused by microdeletion of the locus 7q11.23. It is a clinically recognizable condition whose cardinal features include growth deficiency, variable degrees of...
5.
Costa G, Jorente J, Pontes L, Viguetti Campos N, Marques-de-Faria A, Vieira T, et al.
Cytogenet Genome Res
. 2024 Jul;
164(2):103-109.
PMID: 39068925
Introduction: The dual diagnosis of Down syndrome and Turner syndrome in the same patient was clinically identified in the early 1950s before the development of karyotyping techniques. After that, several...
6.
Mazzonetto P, Villela D, Krepischi A, Pierry P, Bonaldi A, Almeida L, et al.
Am J Med Genet A
. 2024 Jun;
194(11):e63802.
PMID: 38924610
Low-pass whole genome sequencing (LP-WGS) has been applied as alternative method to detect copy number variants (CNVs) in the clinical setting. Compared with chromosomal microarray analysis (CMA), the sequencing-based approach...
7.
de Oliveira-Sobrinho R, Bispo L, Heleno J, Rojas Ayala F, Reis F, Vieira T, et al.
Mol Syndromol
. 2024 Jun;
15(3):225-231.
PMID: 38841325
Background: The chromosome 1p32p31 deletion syndrome is a contiguous gene disorder with a variable phenotype characterized by brain malformations with or without urinary tract defects, besides neurodevelopmental delay and dysmorphisms....
8.
Holanda I, Rim P, Rare Genomes Project Consortium , Guaragna M, Gil-da-Silva-Lopes V, Steiner C
Genes (Basel)
. 2024 Apr;
15(4).
PMID: 38674450
Retinitis pigmentosa is a group of genetically determined retinal dystrophies characterized by primary photoreceptor apoptosis and can occur in isolated or syndromic conditions. This study reviewed the clinical data of...
9.
de Oliveira-Sobrinho R, Appenzeller S, Holanda I, Heleno J, Jorente J, The Rare Genomes Project Consortium , et al.
Genes (Basel)
. 2024 Apr;
15(4).
PMID: 38674447
Juvenile idiopathic arthritis is a heterogeneous group of diseases characterized by arthritis with poorly known causes, including monogenic disorders and multifactorial etiology. 22q11.2 proximal deletion syndrome is a multisystemic disease...
10.
Montenegro Y, Kubaski F, Trapp F, Riegel-Giugliani M, de Souza C, Ribeiro E, et al.
Genet Mol Biol
. 2024 Mar;
47(1):e20230285.
PMID: 38488524
Mucopolysaccharidosis type IIIB (MPS IIIB) is caused by deficiency of alpha-N-acetylglucosaminidase, leading to storage of heparan sulphate. The disease is characterized by intellectual disability and hyperactivity, among other neurological and...