Nuno Maia
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Explore the profile of Nuno Maia including associated specialties, affiliations and a list of published articles.
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18
Citations
65
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Recent Articles
1.
Da Silva J, Maia N, Jorge P, Sousa V, Tkachenko N, Soares A
J Med Genet
. 2025 Feb;
PMID: 39956615
Background: Clinicians often deal with copy-number variants of unknown significance (CNVUS) when managing neurodevelopmental disorders (NDDs). Variant classification is often complemented with textual comments, while the American College of Medical...
2.
Oliveira J, Maia N, Goncalves J, Almeida V
Cureus
. 2023 Feb;
15(1):e33441.
PMID: 36751184
Penetrating neck injuries comprise 5-10% of traumatic injuries in adults and can cause immediate life-threatening compromise. Performing awake fibreoptic intubation in cooperative patients when airway management is not time critical...
3.
Maia N, Ibarluzea N, Misra-Isrie M, Koboldt D, Marques I, Soares G, et al.
Am J Med Genet A
. 2022 Oct;
191(1):135-143.
PMID: 36271811
We describe the phenotype of 22 male patients (20 probands) carrying a hemizygous missense variant in MED12. The phenotypic spectrum is very broad ranging from nonspecific intellectual disability (ID) to...
4.
Expanding the pre- and postnatal phenotype of WASHC5 and CCDC22 -related Ritscher-Schinzel syndromes
Neri S, Maia N, Fortuna A, Damasio J, Coale E, Willis M, et al.
Eur J Med Genet
. 2022 Sep;
65(11):104624.
PMID: 36130690
Ritscher-Schinzel syndrome (RTSCS) is a rare genetic condition characterized by peculiar craniofacial features and cerebellar and cardiovascular malformations. To date, four genes are implicated in this condition. The first two...
5.
Rodrigues B, Goncalves A, Sousa V, Maia N, Marques I, Vale-Fernandes E, et al.
Genes (Basel)
. 2022 Mar;
13(3).
PMID: 35327973
X-chromosome inactivation (XCI) is a developmental process to compensate the imbalance in the dosage of X-chromosomal genes in females. A skewing of the XCI pattern may suggest a carrier status...
6.
Maia N, Nabais Sa M, Oliveira C, Santos F, Soares C, Prior C, et al.
Genes (Basel)
. 2022 Jan;
13(1).
PMID: 35052418
We describe an infant female with a syndromic neurodevelopmental clinical phenotype and increased chromosome instability as cellular phenotype. Genotype characterization revealed heterozygous variants in genes directly or indirectly linked to...
7.
Maia N, Potelle S, Yildirim H, Duvet S, Akula S, Schulz C, et al.
Am J Hum Genet
. 2022 Jan;
109(2):345-360.
PMID: 35045343
Free oligosaccharides (fOSs) are soluble oligosaccharide species generated during N-glycosylation of proteins. Although little is known about fOS metabolism, the recent identification of NGLY1 deficiency, a congenital disorder of deglycosylation...
8.
Maia N, Nabais Sa M, Melo-Pires M, de Brouwer A, Jorge P
BMC Genomics
. 2021 Dec;
22(1):909.
PMID: 34930158
Intellectual disability (ID) can be caused by non-genetic and genetic factors, the latter being responsible for more than 1700 ID-related disorders. The broad ID phenotypic and genetic heterogeneity, as well...
9.
Ferreira J, Maia N, Caetano J, Fernandes D, Rodrigues M, Serrano S
Cureus
. 2021 Dec;
13(11):e19509.
PMID: 34912646
Ankle tuberculosis is a relatively rare condition and may develop after hematogenous dissemination from the pulmonary origin, particularly in cases of immunosuppression. Both pregnancy and delivery are relatively immunosuppressive states,...
10.
Silva C, Maia N, Santos F, Rodrigues B, Marques I, Santos R, et al.
Sci Rep
. 2021 Jul;
11(1):14676.
PMID: 34282157
Over 100 X-linked intellectual disability genes have been identified, with triplet repeat expansions at the FMR1 (FRAXA) and AFF2 (FRAXE) genes being the causative agent in two of them. The...