The Impact of Next Generation Sequencing in Diagnosis and Management of Rare Diseases: Bloom Syndrome

Autor: Ina-Ofelia FOCSA, Andreea TUTULAN-CUNITA, Anca PAVEL, Diana PREPELITA, Diana BRATU, Laurentiu Camil BOHILTEA, Danae STAMBOULI

Publikováno v: Modern Medicine, Vol 29, Iss 3, Pp 187-192 (2022)

Bloom syndrome is an exceptionally rare autosomal recessive disorder characterized by a considerable genomic instability due to the defective DNA damage repair machine. It is caused by biallelic pathogenic variants in the gene encoding for one of the

Externí odkaz: https://doaj.org/article/1dd78e45f13e416b9056a3a0a859ffea

The Impact of Next Generation Sequencing in Diagnosis and Management of Rare Diseases: Bloom Syndrome

Autor: Andreea Tutulan-Cunita

Publikováno v: Medicina Moderna - Modern Medicine. 29:187-192

Bloom syndrome is an exceptionally rare autosomal recessive disorder characterized by a considerable genomic instability due to the defective DNA damage repair machine. It is caused by biallelic pathogenic variants in the gene encoding for one of the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::2d94eb68dd02370153cb2e8139aa730c
https://doi.org/10.31689/rmm.2022.29.3.187

Pallister–Killian Syndrome versus Trisomy 12p—A Clinical Study of 5 New Cases and a Literature Review

Autor: Adriana Sireteanu, Sorina Mihaela Papuc, Andreea Tutulan-Cunita, Roxana Popescu, Monica Panzaru, Aurora Arghir, Lăcrămioara Butnariu, Cristina Rusu, Mihaela Gramescu, Eusebiu Vlad Gorduza, Magdalena Budisteanu, Irina Resmerita

Publikováno v: Genes
Volume 12
Issue 6
Genes, Vol 12, Iss 811, p 811 (2021)

Pallister–Killian syndrome (PKS) is a rare, sporadic disorder defined by a characteristic dysmorphic face, pigmentary skin anomalies, intellectual disability, hypotonia, and seizures caused by 12p tetrasomy due to an extra isochromosome 12p. We pre

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec1d8bd412f6268f3470fb838ea68ce8

Monitoring Methylmalonic Aciduria by NMR Urinomics

Autor: Ana Oglinda, Dorina Rotaru, Mihaela Cristea, Andreea Tutulan-Cunita, Isabela Tarcomnicu, Adela Stamati, Chiril Boiciuc, Danae Stambouli, Ninel Revenco, Daniela Blanita, Alina Nicolescu, Sergiu Gladun, Natalia Usurelu, Ludmila Pinzari, Victoria Hlistun, Calin Deleanu

Publikováno v: Molecules, Vol 25, Iss 5312, p 5312 (2020)
Molecules
Volume 25
Issue 22

The paper reports on monitoring methylmalonic aciduria (MMA)-specific and non-specific metabolites via NMR urinomics. Five patients have been monitored over periods of time
things involved were diet, medication and occasional episodes of failing

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6224d0f1d869ee826a6da00d7c939955
https://www.mdpi.com/1420-3049/25/22/5312

Haploinsufficiency of BAZ1B contributes to Williams syndrome through transcriptional dysregulation of neurodevelopmental pathways

Autor: Kenneth S. Kosik, Yadong Huang, Sorina Mihaela Papuc, Joo-Hye C. Park, Kenneth R. Tovar, Elmer Guzman, Morgane Audouard, Andreea Tutulan-Cunita, Matthew A. Lalli, Daniel Bridges, Yidi Wang, Magdalena Budisteanu, Aurora Arghir, Jiwon Jang, Hongjun Zhou

Publikováno v: Lalli, MA; Jang, J; Park, JHC; Wang, Y; Guzman, E; Zhou, H; et al.(2016). Haploinsufficiency of BAZ1B contributes to Williams syndrome through transcriptional dysregulation of neurodevelopmental pathways. Human Molecular Genetics, 25(7), 1294-1306. doi: 10.1093/hmg/ddw010. UC Santa Barbara: Retrieved from: http://www.escholarship.org/uc/item/2749r9r0
Human molecular genetics, vol 25, iss 7
Europe PubMed Central

© The Author 2016. Williams syndrome (WS) is a neurodevelopmental disorder caused by a genomic deletion of ~28 genes that results in a cognitive and behavioral profile marked by overall intellectual impairment with relative strength in expressive la

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24daad417f9f3b297a24dc367f294e93
http://www.escholarship.org/uc/item/2749r9r0