Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms.

Autor: Yabumoto, Megan^1,2 (AUTHOR), Kianmahd, Jessica³ (AUTHOR), Singh, Meghna^1,2 (AUTHOR), Palafox, Maria F.^1,2 (AUTHOR), Wei, Angela² (AUTHOR), Elliott, Kathryn² (AUTHOR), Goodloe, Dana H.⁴ (AUTHOR), Dean, S. Joy⁴ (AUTHOR), Gooch, Catherine⁵ (AUTHOR), Murray, Brianna K.⁶ (AUTHOR), Swartz, Erin⁶ (AUTHOR), Schrier Vergano, Samantha A.⁶ (AUTHOR), Towne, Meghan C.⁷ (AUTHOR), Nugent, Kimberly^8,9 (AUTHOR), Roeder, Elizabeth R.^8,9 (AUTHOR), Kresge, Christina¹⁰ (AUTHOR), Pletcher, Beth A.¹⁰ (AUTHOR), Grand, Katheryn¹¹ (AUTHOR), Graham, John M.¹¹ (AUTHOR), Gates, Ryan¹² (AUTHOR)

Publikováno v: Molecular Genetics & Genomic Medicine. Oct2021, Vol. 9 Issue 10, p1-21. 21p.

14q32.11 microdeletion including CALM1, TTC7B, PSMC1, and RPS6KA5:A new potential cause of developmental and language delay in three unrelated patients

Autor: Eno, Celeste C., Graakjaer, Jesper, Svaneby, Dea, Nizon, Mathilde, Kianmahd, Jessica, Signer, Rebecca, Martinez-Agosto, Julian A., Quintero-Rivera, Fabiola

Publikováno v: Eno, C C, Graakjaer, J, Svaneby, D, Nizon, M, Kianmahd, J, Signer, R, Martinez-Agosto, J A & Quintero-Rivera, F 2021, ' 14q32.11 microdeletion including CALM1, TTC7B, PSMC1, and RPS6KA5 : A new potential cause of developmental and language delay in three unrelated patients ', American Journal of Medical Genetics, Part A, vol. 185, no. 5, pp. 1519-1524 . https://doi.org/10.1002/ajmg.a.62117

Three unrelated patients with similar microdeletions of chromosome 14q32.11 with shared phenotypes including language and developmental delay, and four overlapping genes -CALM1, TTC7B, PSMC1, and RPS6KA5 have been presented. All four genes are expres

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3062::23df13cb80090ead2a2ee877ef04da8e
https://findresearcher.sdu.dk:8443/ws/files/181861926/ajmg.a.62117.pdf

A case report of a novel germline GNAS mutation in sonic hedgehog activated medulloblastoma

Autor: Crane, Jacquelyn N., Chang, Vivian Y., Yong, William H., Salamon, Noriko, Lee, Hane, Kianmahd, Jessica, Dorrani, Naghmeh, Martinez-Agosto, Julian A., Davidson, Tom B.

Publikováno v: Pediatr Blood Cancer

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca80db1e8f8386f00652469c14b11bec
https://europepmc.org/articles/PMC7307637/

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A case report of a novel germline GNAS mutation in sonic hedgehog activated medulloblastoma.

Autor: Crane, Jacquelyn N., Chang, Vivian Y., Yong, William H., Salamon, Noriko, Kianmahd, Jessica, Dorrani, Naghmeh, Martinez‐Agosto, Julian A., Davidson, Tom B.

Publikováno v: Pediatric Blood & Cancer; Mar2020, Vol. 67 Issue 3, pN.PAG-N.PAG, 1p