Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2012 4
2013 2
2014 2
2015 6
2016 6
2017 8
2018 4
2019 4
2020 3
2021 7
2022 8
2023 2
2024 3

Text availability

Article attribute

Article type

Publication date

Search Results

47 results

Results by year

Filters applied: . Clear all
Page 1
The clinical phenotype of Koolen-de Vries syndrome in Turkish patients and literature review.
Karamik G, Tuysuz B, Isik E, Yilmaz A, Alanay Y, Sunamak EC, Durmusalioglu EA, Ozkinay F, Cetin GO, Ozturk N, Mihci E, Nur B. Karamik G, et al. Am J Med Genet A. 2023 Jul;191(7):1814-1825. doi: 10.1002/ajmg.a.63207. Epub 2023 Apr 13. Am J Med Genet A. 2023. PMID: 37053206 Review.
Koolen-de Vries syndrome (KdVS) is a rare multisystemic disorder caused by a microdeletion on chromosome 17q21.31 including KANSL1 gene or intragenic pathogenic variants in KANSL1 gene. ...
Koolen-de Vries syndrome (KdVS) is a rare multisystemic disorder caused by a microdeletion on chromosome 17q21.3 …
Koolen-de Vries syndrome associated with continuous spike-wave in sleep.
Khan AQ, Coorg RK, Gill D, Marini C, Myers KA. Khan AQ, et al. Epileptic Disord. 2022 Oct 1;24(5):928-933. doi: 10.1684/epd.2022.1452. Epileptic Disord. 2022. PMID: 35811432 Free article. English.
Koolen-de Vries syndrome (KdVS) is a genetic condition caused by 17q21.31 microdeletions or pathogenic variants in KANSL1. ...
Koolen-de Vries syndrome (KdVS) is a genetic condition caused by 17q21.31 microdeletions or pathogenic variants …
Quantitative facial phenotyping for Koolen-de Vries and 22q11.2 deletion syndrome.
Dingemans AJM, Stremmelaar DE, van der Donk R, Vissers LELM, Koolen DA, Rump P, Hehir-Kwa JY, de Vries BBA. Dingemans AJM, et al. Eur J Hum Genet. 2021 Sep;29(9):1418-1423. doi: 10.1038/s41431-021-00824-x. Epub 2021 Feb 18. Eur J Hum Genet. 2021. PMID: 33603161 Free PMC article.
The Koolen-de Vries syndrome (KdVS) is a multisystem syndrome with variable facial features caused by a 17q21.31 microdeletion or KANSL1 truncating variant. ...
The Koolen-de Vries syndrome (KdVS) is a multisystem syndrome with variable facial features caused by a 17q21.31 …
Adult phenotype in Koolen-de Vries/KANSL1 haploinsufficiency syndrome.
Amenta S, Frangella S, Marangi G, Lattante S, Ricciardi S, Doronzio PN, Orteschi D, Veredice C, Contaldo I, Zampino G, Gentile M, Scarano E, Graziano C, Zollino M. Amenta S, et al. J Med Genet. 2022 Feb;59(2):189-195. doi: 10.1136/jmedgenet-2020-107225. Epub 2020 Dec 24. J Med Genet. 2022. PMID: 33361104
BACKGROUND: Koolen-de Vries syndrome (KdVS) is a multisystem neurodevelopmental disorder caused by 17q21.31 deletions or mutations in KANSL1. ...
BACKGROUND: Koolen-de Vries syndrome (KdVS) is a multisystem neurodevelopmental disorder caused by 17q21.31 dele …
Ocular manifestations and surgical interventions in pediatric patients with Koolen-de-Vries syndrome.
Prat D, Katowitz WR, Strong A, Katowitz JA. Prat D, et al. Ophthalmic Genet. 2021 Apr;42(2):186-188. doi: 10.1080/13816810.2020.1868012. Epub 2021 Jan 3. Ophthalmic Genet. 2021. PMID: 33393407
Background: Koolen-de Vries syndrome (KdVS) (OMIM #610443) or 17q21.31 microdeletion syndrome, is a rare genetic disorder characterized by developmental and speech delay, intellectual disability, epilepsy, hypotonia, characteristic facial features, and …
Background: Koolen-de Vries syndrome (KdVS) (OMIM #610443) or 17q21.31 microdeletion syndrome, is a rare genetic …
Kansl1 haploinsufficiency impairs autophagosome-lysosome fusion and links autophagic dysfunction with Koolen-de Vries syndrome in mice.
Li T, Lu D, Yao C, Li T, Dong H, Li Z, Xu G, Chen J, Zhang H, Yi X, Zhu H, Liu G, Wen K, Zhao H, Gao J, Zhang Y, Han Q, Li T, Zhang W, Zhao J, Li T, Bai Z, Song M, He X, Zhou T, Xia Q, Li A, Pan X. Li T, et al. Nat Commun. 2022 Feb 17;13(1):931. doi: 10.1038/s41467-022-28613-0. Nat Commun. 2022. PMID: 35177641 Free PMC article.
Koolen-de Vries syndrome (KdVS) is a rare disorder caused by haploinsufficiency of KAT8 regulatory NSL complex subunit 1 (KANSL1), which is characterized by intellectual disability, heart failure, hypotonia, and congenital malformations. ...
Koolen-de Vries syndrome (KdVS) is a rare disorder caused by haploinsufficiency of KAT8 regulatory NSL complex s …
Koolen-de Vries syndrome in a 63-year-old woman: Report of the oldest patient and a review of the adult phenotype.
Farnè M, Bernardini L, Capalbo A, Cavarretta G, Torres B, Sanchini M, Fini S, Ferlini A, Bigoni S. Farnè M, et al. Am J Med Genet A. 2022 Feb;188(2):692-707. doi: 10.1002/ajmg.a.62536. Epub 2021 Oct 19. Am J Med Genet A. 2022. PMID: 34665525 Free PMC article. Review.
Koolen-de Vries syndrome (KdVS) is a rare genetic disorder caused by a de novo microdeletion in chromosomal region 17q21.31 encompassing KANSL1 or by a de novo intragenic pathogenic variant of KANSL1. ...
Koolen-de Vries syndrome (KdVS) is a rare genetic disorder caused by a de novo microdeletion in chromosomal regi …
Koolen-de Vries Syndrome: Clinical Report of an Adult and Literature Review.
Ciaccio C, Dordoni C, Ritelli M, Colombi M. Ciaccio C, et al. Cytogenet Genome Res. 2016;150(1):40-45. doi: 10.1159/000452724. Epub 2016 Nov 17. Cytogenet Genome Res. 2016. PMID: 27852077 Review.
Koolen-de Vries syndrome (KdS) is a rare genetic condition characterized by typical facial dysmorphisms, cardiac and renal defects, skeletal anomalies, developmental delay, and intellectual disability of variable level. ...
Koolen-de Vries syndrome (KdS) is a rare genetic condition characterized by typical facial dysmorphisms, cardiac …
The epileptology of Koolen-de Vries syndrome: Electro-clinico-radiologic findings in 31 patients.
Myers KA, Mandelstam SA, Ramantani G, Rushing EJ, de Vries BB, Koolen DA, Scheffer IE. Myers KA, et al. Epilepsia. 2017 Jun;58(6):1085-1094. doi: 10.1111/epi.13746. Epub 2017 Apr 25. Epilepsia. 2017. PMID: 28440867
OBJECTIVE: This study was designed to describe the spectrum of epilepsy phenotypes in Koolen-de Vries syndrome (KdVS), a genetic syndrome involving dysmorphic features, intellectual disability, hypotonia, and congenital malformations, that occurs secon …
OBJECTIVE: This study was designed to describe the spectrum of epilepsy phenotypes in Koolen-de Vries syndrome ( …
Early speech development in Koolen de Vries syndrome limited by oral praxis and hypotonia.
Morgan AT, Haaften LV, van Hulst K, Edley C, Mei C, Tan TY, Amor D, Fisher SE, Koolen DA. Morgan AT, et al. Eur J Hum Genet. 2018 Jan;26(1):75-84. doi: 10.1038/s41431-017-0035-9. Epub 2017 Dec 11. Eur J Hum Genet. 2018. PMID: 29225339 Free PMC article.
Communication disorder is common in Koolen de Vries syndrome (KdVS), yet its specific symptomatology has not been examined, limiting prognostic counselling and application of targeted therapies. ...
Communication disorder is common in Koolen de Vries syndrome (KdVS), yet its specific symptomatology has not bee …
47 results