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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
1999 | 1 |
2010 | 1 |
2020 | 2 |
2021 | 2 |
2024 | 0 |
PubMed (OMIM) for id: 23097
6 results
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A novel variant of CDK19 causes a severe neurodevelopmental disorder with infantile spasms.
Cold Spring Harb Mol Case Stud. 2021 Apr 8;7(2):a006082. doi: 10.1101/mcs.a006082. Print 2021 Apr.
Cold Spring Harb Mol Case Stud. 2021.
PMID: 33568421
Free PMC article.
CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variants.
Zarate YA, Uehara T, Abe K, Oginuma M, Harako S, Ishitani S, Lehesjoki AE, Bierhals T, Kloth K, Ehmke N, Horn D, Holtgrewe M, Anderson K, Viskochil D, Edgar-Zarate CL, Sacoto MJG, Schnur RE, Morrow MM, Sanchez-Valle A, Pappas J, Rabin R, Muona M, Anttonen AK, Platzer K, Luppe J, Gburek-Augustat J, Kaname T, Okamoto N, Mizuno S, Kaido Y, Ohkuma Y, Hirose Y, Ishitani T, Kosaki K.
Zarate YA, et al.
Genet Med. 2021 Jun;23(6):1050-1057. doi: 10.1038/s41436-020-01091-9. Epub 2021 Jan 25.
Genet Med. 2021.
PMID: 33495529
Free article.
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Cerebrospinal fluid abnormalities in developmental and epileptic encephalopathy with a de novo CDK19 variant.
Sugawara Y, Mizuno T, Moriyama K, Ishiwata H, Kato M, Nakashima M, Mizuguchi T, Matsumoto N.
Sugawara Y, et al.
Neurol Genet. 2020 Oct 8;6(6):e527. doi: 10.1212/NXG.0000000000000527. eCollection 2020 Dec.
Neurol Genet. 2020.
PMID: 33134521
Free PMC article.
No abstract available.
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De Novo Variants in CDK19 Are Associated with a Syndrome Involving Intellectual Disability and Epileptic Encephalopathy.
Chung HL, Mao X, Wang H, Park YJ, Marcogliese PC, Rosenfeld JA, Burrage LC, Liu P, Murdock DR, Yamamoto S, Wangler MF; Undiagnosed Diseases Network; Chao HT, Long H, Feng L, Bacino CA, Bellen HJ, Xiao B.
Chung HL, et al.
Am J Hum Genet. 2020 May 7;106(5):717-725. doi: 10.1016/j.ajhg.2020.04.001. Epub 2020 Apr 23.
Am J Hum Genet. 2020.
PMID: 32330417
Free PMC article.
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CDK19 is disrupted in a female patient with bilateral congenital retinal folds, microcephaly and mild mental retardation.
Mukhopadhyay A, Kramer JM, Merkx G, Lugtenberg D, Smeets DF, Oortveld MA, Blokland EA, Agrawal J, Schenck A, van Bokhoven H, Huys E, Schoenmakers EF, van Kessel AG, van Nouhuys CE, Cremers FP.
Mukhopadhyay A, et al.
Hum Genet. 2010 Sep;128(3):281-91. doi: 10.1007/s00439-010-0848-x. Epub 2010 Jun 22.
Hum Genet. 2010.
PMID: 20563892
Free PMC article.
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Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.
Kikuno R, Nagase T, Ishikawa K, Hirosawa M, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O.
Kikuno R, et al.
DNA Res. 1999 Jun 30;6(3):197-205. doi: 10.1093/dnares/6.3.197.
DNA Res. 1999.
PMID: 10470851
Free article.
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