prikaz prve stranice dokumenta Novel RAI1:c.2736delC Variant in Smith–Magenis Syndrome: Identification by Whole Genome Sequencing and Joint Analysis
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Novel RAI1:c.2736delC Variant in Smith–Magenis Syndrome: Identification by Whole Genome Sequencing and Joint Analysis
Journal of Personalized Medicine, 14 (2024), 9; 901. https://doi.org/10.3390/jpm14090901
Ćuk, Mario; Unal, Busra; Jandric, Nives; Hayes, Connor P.; Walker, McKenzie; Abraamyan, Feruza; Crkvenac Gornik, Kristina; Ghazani, Arezou A.

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Ćuk, M., Unal, B., Jandric, N., Hayes, C. P., Walker, M., Abraamyan, F. ... Ghazani, A. A. (2024). Novel RAI1:c.2736delC Variant in Smith–Magenis Syndrome: Identification by Whole Genome Sequencing and Joint Analysis. Journal of Personalized Medicine, 14. (9). doi: 10.3390/jpm14090901

Ćuk, Mario, et al. "Novel RAI1:c.2736delC Variant in Smith–Magenis Syndrome: Identification by Whole Genome Sequencing and Joint Analysis." Journal of Personalized Medicine, vol. 14, br. 9, 2024. https://doi.org/10.3390/jpm14090901

Ćuk, Mario, Busra Unal, Nives Jandric, Connor P. Hayes, McKenzie Walker, Feruza Abraamyan, Kristina Crkvenac Gornik i Arezou A. Ghazani. "Novel RAI1:c.2736delC Variant in Smith–Magenis Syndrome: Identification by Whole Genome Sequencing and Joint Analysis." Journal of Personalized Medicine 14, br. 9 (2024). https://doi.org/10.3390/jpm14090901

Ćuk, M., et al. (2024) 'Novel RAI1:c.2736delC Variant in Smith–Magenis Syndrome: Identification by Whole Genome Sequencing and Joint Analysis', Journal of Personalized Medicine, 14(9). doi: 10.3390/jpm14090901

Ćuk M, Unal B, Jandric N, Hayes CP, Walker M, Abraamyan F, i sur.. Novel RAI1:c.2736delC Variant in Smith–Magenis Syndrome: Identification by Whole Genome Sequencing and Joint Analysis. Journal of Personalized Medicine [Internet]. 25.08.2024. [pristupljeno 19.03.2025.];14(9). doi: 10.3390/jpm14090901

M. Ćuk, et al., "Novel RAI1:c.2736delC Variant in Smith–Magenis Syndrome: Identification by Whole Genome Sequencing and Joint Analysis", Journal of Personalized Medicine, vol. 14, br. 9, Kolovoz 2024. [Online]. Dostupno na: https://urn.nsk.hr/urn:nbn:hr:105:317273. [Citirano: 19.03.2025.]

Za citiranje koristite ovu mrežnu adresu: https://urn.nsk.hr/urn:nbn:hr:105:317273
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Naslov (engleski)Novel RAI1:c.2736delC Variant in Smith–Magenis Syndrome: Identification by Whole Genome Sequencing and Joint Analysis
AutorMario Ćuk
AutorBusra Unal
AutorNives Jandric
AutorConnor P. Hayes
AutorMcKenzie Walker
AutorFeruza Abraamyan
AutorKristina Crkvenac Gornik
AutorArezou A. Ghazani
Autorova ustanovaSveučilište u Zagrebu
Medicinski fakultet
(KATEDRA ZA PEDIJATRIJU)
Znanstveno / umjetničko
područje, polje i grana		BIOMEDICINA I ZDRAVSTVO
Kliničke medicinske znanosti
Pedijatrija
Sažetak (engleski)
Smith–Magenis syndrome is a complex neurobehavioral genetic disorder with a broad phenotypic spectrum. While the etiology of SMS is commonly attributed to one-copy interstitial deletion in the 17p11.2 region (90–95% of cases), variants identified by sequence analysis in RAI1 have also been reported in 5–10% of cases. In this study, we report a 9-year-old male with global cognitive and psychomotor developmental delay, musculoskeletal and cardiovascular abnormalities, and dysmorphic craniofacial... Više features. Joint analysis was performed on the whole-genome sequencing data obtained from the proband, unaffected parents, and unaffected brother. This quad analysis identified the novel de novo RAI1:c.2736delC variant. This is the first report of this variant in the literature. This report highlights the details of genome analysis and the patient’s phenotypic spectrum. Sakrij dio sažetka
Ključne riječi (engleski)
Jezikengleski
Vrsta publikacijeZnanstveni rad - Izvorni znanstveni rad
Status objaveObjavljen
Vrsta recenzijeRecenziran
Verzija publikacijeObjavljena verzija rada (izdavačev PDF)
Naslov časopisaJournal of Personalized Medicine
Brojčani podacivol. 14, br. 9, 901
e-ISSN2075-4426
DOIhttps://doi.org/10.3390/jpm14090901
URN:NBNurn:nbn:hr:105:317273
Datum objave publikacije2024-08-25
URL dokumentahttps://www.mdpi.com/2075-4426/14/9/901
Vrsta resursaTekst
Prava pristupaOtvoreni pristup
Uvjeti korištenjaIkona licence Imenovanje 4.0 međunarodna (CC BY 4.0)
Datum i vrijeme pohrane2025-03-19 15:20:23
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