Výsledky vyhledávání - "Kara, Ranguin"

Akademický článek

A cryptic microdeletion del(12)(p11.21p11.23) within an unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome

Autor: Afif Ben-Mahmoud, Shotaro Kishikawa, Vijay Gupta, Natalia T. Leach, Yiping Shen, Oana Moldovan, Himanshu Goel, Bruce Hopper, Kara Ranguin, Nicolas Gruchy, Saskia M Maas, Yves Lacassie, Soo-Hyun Kim, Woo-Yang Kim, Bradley J. Quade, Cynthia C. Morton, Cheol-Hee Kim, Lawrence C. Layman, Hyung-Goo Kim

Publikováno v: Scientific Reports, Vol 13, Iss 1, Pp 1-23 (2023)

Abstract In a patient diagnosed with both Kallmann syndrome (KS) and intellectual disability (ID), who carried an apparently balanced translocation t(7;12)(q22;q24)dn, array comparative genomic hybridization (aCGH) disclosed a cryptic heterozygous 4.

Externí odkaz: https://doaj.org/article/bf1deb454d1b4cdc861f88bc21658a2b

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Expanding the phenotype of HNRNPU ‐related neurodevelopmental disorder with emphasis on seizure phenotype and review of literature

Autor: James Taylor, Michael Spiller, Kara Ranguin, Antonio Vitobello, Christophe Philippe, Ange‐Line Bruel, Gerarda Cappuccio, Nicola Brunetti‐Pierri, Marjolaine Willems, Bertrand Isidor, Kristen Park, Meena Balasubramanian

Publikováno v: American Journal of Medical Genetics Part A. 188:1497-1514

Pathogenic variants in heterogeneous nuclear ribonucleoprotein U (HNRNPU) results in a novel neurodevelopmental disorder recently delineated. Here, we report on 17 previously unpublished patients carrying HNRNPU pathogenic variants. All patients were

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f9b26b412e660aa4052713fc4e8560c2
https://doi.org/10.1002/ajmg.a.62677

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Novel interstitial 2q12.3q13 microdeletion predisposes to developmental delay and behavioral problems

Autor: Minh-Tuan Huynh, Stéphane Bézieau, Madeleine Joubert, Leila Ghesh, Gerard Marion, Claire Beneteau, Khalid Alfallaj, Olivier Pichon, Kara Ranguin

Publikováno v: neurogenetics. 22:195-206

Microarray-based comparative genomic hybridization (aCGH) is being increasingly applied to delineate novel genomic disorders and related syndromes in patients with developmental delay. In this study, detailed clinical and cytogenetic data of three un

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6890592cd16c328606abafb9c107b343
https://doi.org/10.1007/s10048-021-00653-6

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Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications

Publikováno v: European Journal of Human Genetics, 29, 1, pp. 51-60
European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2021, 29 (1), pp.51-60. ⟨10.1038/s41431-020-00708-6⟩
European Journal of Human Genetics, 29, 51-60
Eur J Hum Genet

RASopathies are caused by variants in genes encoding components or modulators of the RAS/MAPK signaling pathway. Noonan syndrome is the most common entity among this group of disorders and is characterized by heart defects, short stature, variable de

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::648a766f5990e548ed19dfb044cd9e7a
https://doi.org/10.1038/s41431-020-00708-6

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Speech and language deficits are central to SETBP1 haploinsufficiency disorder

Autor: Varoona Bizaoui, Siddharth Srivastava, Simon E. Fisher, Angela T Morgan, Bregje W.M. van Bon, Ruth O Braden, Adam P. Vogel, David J. Amor, Estelle Colin, Frédérique Liégeois, Maggie M K Wong, Kara Ranguin

Publikováno v: European Journal of Human Genetics, 29, 8, pp. 1216-1225
Eur J Hum Genet
European Journal of Human Genetics
European Journal of Human Genetics, 29, 1216-1225

Contains fulltext : 237908.pdf (Publisher’s version ) (Closed access) Expressive communication impairment is associated with haploinsufficiency of SETBP1, as reported in small case series. Heterozygous pathogenic loss-of-function (LoF) variants in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::160f7f0e2136b02162ce5997fa89be75
https://repository.ubn.ru.nl/handle/2066/237908

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Functional analysis of

Publikováno v: Journal of medical genetics. 59(2)

The Tousled-like kinases 1 and 2 (TLK1 and TLK2) are involved in many fundamental processes, including DNA replication, cell cycle checkpoint recovery and chromatin remodelling. Mutations inWe re-evaluate whole exome sequencing and array-CGH data fro

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::50da9e26341705814c0d15d5c645e265
https://pubmed.ncbi.nlm.nih.gov/33323470

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Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis

Publikováno v: Dipòsit Digital de la UB
Universidad de Barcelona

IntroductionThe Tousled-like kinases 1 and 2 (TLK1 and TLK2) are involved in many fundamental processes, including DNA replication, cell cycle checkpoint recovery and chromatin remodelling. Mutations in TLK2 were recently associated with ‘Mental Re

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::552829fbd820b85333c5a3c6f2f9dcf9
http://hdl.handle.net/2445/181005

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