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Nathalia Lisboa Gomes on Muck Rack

Nathalia Lisboa Gomes

As seen in: Nature, MDPI, LANCE!
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Articles

Monoallelic and Biallelic FOXP4 Variants Cause Short Stature, Dysmorphic Features, Neurodevelopmental, Heart, and Congenital Abnormalities

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By Essa Alharby, Malak Alghamdi, Abeer A. Alsofyani, Eissa A Faqeih, Mohammed K. Saleh, Chaya Murali, Jerica Lenberg, Jennifer F. Friedman, Robin-Tobias Jauss, Rami Abou Jamra, Sophie Rondeau, Sandrine Marlin, Daniel G. Calame, Arthur Sorlin, Nada A Almarghalani, Adriane A. Cardoso-Demartini, Laurana de Polli Cellin, Nathalia Lisboa Gomes, James R. Lupski, Julien Van Gils, Khaled K. Abu-Amero, Almohanad A. Alkayyal, Ahmad Bakur Mahmoud, Naif A. M. Almontashiri, Rachel Franciskovich, Jean-Paul Hermand, Mohammed Abdullah Alotaibi, Amel Bouchatal, Benjamin Dauriat
| Nature Verified
Abstract FOXP4 is a transcription factor belonging to the FOX subfamily P, which acts as a multifunctional regulator in cardiac morphogenesis, lung development, and gut development. Six heterozygous missense and loss-of-function (LoF) variants in FOXP4 were reported in a few cases to cause neurodevelopmental phenotypes with multiple congenital abnormalities. Larger studies are needed to further confirm and delineate FOXP4-related disease.
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Treinador de time da Premier League é internado antes de rodada

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By Nathalia Lisboa Gomes
| LANCE! Verified
O Newcastle terá uma baixa importante para o duelo contra o Manchester United, neste domingo. O treinador da equipe, Eddie Howe, precisou ser internado às pressas após ter se sentido mal durante vários dias, conforme informação do clube. Desta forma, não poderá atuar na 32ª rodada da Premier League. continua após a publicidade ➡️Tudo sobre os maiores times e as grandes estrelas do futebol no mundo afora agora no WhatsApp.
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Cytogenomic Investigation of Syndromic Brazilian Patients with Differences of Sexual Development

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By Daniela Moraes, Leslie Kulikowski, Rafael Batista, Nathalia Lisboa Gomes
| MDPI
Abstract : Background: Cytogenomic methods have gained space in the clinical investigation of patients with disorders/differences in sexual development (DSD). Here we evaluated the role of the SNP array in achieving a molecular diagnosis in Brazilian patients with syndromic DSD of unknown etiology. Methods: Twenty-two patients with DSD and syndromic features were included in the study and underwent SNP-array analysis. Results: In two patients, the diagnosis of 46,XX SRY + DSD was established.
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