Hancarova M - Search Results

1

Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.

Li D, Wang Q, Bayat A, Battig MR, Zhou Y, Bosch DG, van Haaften G, Granger L, Petersen AK, Pérez-Jurado LA, Aznar-Laín G, Aneja A, Hancarova M, Bendova S, Schwarz M, Kremlikova Pourova R, Sedlacek Z, Keena BA, March ME, Hou C, O'Connor N, Bhoj EJ, Harr MH, Lemire G, Boycott KM, Towne M, Li M, Tarnopolsky M, Brady L, Parker MJ, Faghfoury H, Parsley LK, Agolini E, Dentici ML, Novelli A, Wright M, Palmquist R, Lai K, Scala M, Striano P, Iacomino M, Zara F, Cooper A, Maarup TJ, Byler M, Lebel RR, Balci TB, Louie R, Lyons M, Douglas J, Nowak C, Afenjar A, Hoyer J, Keren B, Maas SM, Motazacker MM, Martinez-Agosto JA, Rabani AM, McCormick EM, Falk MJ, Ruggiero SM, Helbig I, Møller RS, Tessarollo L, Tomassoni Ardori F, Palko ME, Hsieh TC, Krawitz PM, Ganapathi M, Gelb BD, Jobanputra V, Wilson A, Greally J, Jacquemont S, Jizi K, Bruel AL, Quelin C, Misra VK, Chick E, Romano C, Greco D, Arena A, Morleo M, Nigro V, Seyama R, Uchiyama Y, Matsumoto N, Taira R, Tashiro K, Sakai Y, Yigit G, Wollnik B, Wagner M, Kutsche B, Hurst AC, Thompson ML, Schmidt R, Randolph L, Spillmann RC, Shashi V, Higginbotham EJ, Cordeiro D, Carnevale A, Costain G, Khan T, Funalot B, Tran Mau-Them F, Fernandez … See abstract for full author list ➔ Li D, et al. Among authors: hancarova m. J Clin Invest. 2024 Jan 2;134(1):e171235. doi: 10.1172/JCI171235. J Clin Invest. 2024. PMID: 37962958 Free PMC article.

2

Identification of a patient with intellectual disability and de novo 3.7 Mb deletion supports the existence of a novel microdeletion syndrome in 2p14-p15.

Hancarova M, Vejvalkova S, Trkova M, Drabova J, Dleskova A, Vlckova M, Sedlacek Z. Hancarova M, et al. Gene. 2013 Mar 1;516(1):158-61. doi: 10.1016/j.gene.2012.12.027. Epub 2012 Dec 22. Gene. 2013. PMID: 23266801

3

A patient with de novo 0.45 Mb deletion of 2p16.1: the role of BCL11A, PAPOLG, REL, and FLJ16341 in the 2p15-p16.1 microdeletion syndrome.

Hancarova M, Simandlova M, Drabova J, Mannik K, Kurg A, Sedlacek Z. Hancarova M, et al. Am J Med Genet A. 2013 Apr;161A(4):865-70. doi: 10.1002/ajmg.a.35783. Epub 2013 Mar 12. Am J Med Genet A. 2013. PMID: 23495096

4

Deletions of 9q21.3 including NTRK2 are associated with severe phenotype.

Hancarova M, Puchmajerova A, Drabova J, Karaskova E, Vlckova M, Sedlacek Z. Hancarova M, et al. Am J Med Genet A. 2015 Jan;167A(1):264-7. doi: 10.1002/ajmg.a.36797. Epub 2014 Oct 27. Am J Med Genet A. 2015. PMID: 25348648 No abstract available.

5

A 15 Mb large paracentric chromosome 21 inversion identified in Czech population through a pair of flanking duplications.

Drabova J, Trkova M, Hancarova M, Novotna D, Hejtmankova M, Havlovicova M, Sedlacek Z. Drabova J, et al. Among authors: hancarova m. Mol Cytogenet. 2014 Aug 19;7:51. doi: 10.1186/1755-8166-7-51. eCollection 2014. Mol Cytogenet. 2014. PMID: 25411581 Free PMC article.

6

Long term follow-up in a patient with a de novo microdeletion of 14q11.2 involving CHD8.

Drabova J, Seemanova E, Hancarova M, Pourova R, Horacek M, Jancuskova T, Pekova S, Novotna D, Sedlacek Z. Drabova J, et al. Among authors: hancarova m. Am J Med Genet A. 2015 Apr;167A(4):837-41. doi: 10.1002/ajmg.a.36957. Epub 2015 Mar 3. Am J Med Genet A. 2015. PMID: 25735987

7

HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain.

Jolly LA, Nguyen LS, Domingo D, Sun Y, Barry S, Hancarova M, Plevova P, Vlckova M, Havlovicova M, Kalscheuer VM, Graziano C, Pippucci T, Bonora E, Sedlacek Z, Gecz J. Jolly LA, et al. Among authors: hancarova m. Hum Mol Genet. 2015 Jun 15;24(12):3335-47. doi: 10.1093/hmg/ddv083. Epub 2015 Mar 3. Hum Mol Genet. 2015. PMID: 25740848

8

BCL11A deletions result in fetal hemoglobin persistence and neurodevelopmental alterations.

Basak A, Hancarova M, Ulirsch JC, Balci TB, Trkova M, Pelisek M, Vlckova M, Muzikova K, Cermak J, Trka J, Dyment DA, Orkin SH, Daly MJ, Sedlacek Z, Sankaran VG. Basak A, et al. Among authors: hancarova m. J Clin Invest. 2015 Jun;125(6):2363-8. doi: 10.1172/JCI81163. Epub 2015 May 4. J Clin Invest. 2015. PMID: 25938782 Free PMC article. Clinical Trial.

9

A patient showing features of both SBBYSS and GPS supports the concept of a KAT6B-related disease spectrum, with mutations in mid-exon 18 possibly leading to combined phenotypes.

Vlckova M, Simandlova M, Zimmermann P, Stranecky V, Hartmannova H, Hodanova K, Havlovicova M, Hancarova M, Kmoch S, Sedlacek Z. Vlckova M, et al. Among authors: hancarova m. Eur J Med Genet. 2015 Oct;58(10):550-5. doi: 10.1016/j.ejmg.2015.09.004. Epub 2015 Sep 11. Eur J Med Genet. 2015. PMID: 26370006

10

Analysis of 31-year-old patient with SYNGAP1 gene defect points to importance of variants in broader splice regions and reveals developmental trajectory of SYNGAP1-associated phenotype: case report.

Prchalova D, Havlovicova M, Sterbova K, Stranecky V, Hancarova M, Sedlacek Z. Prchalova D, et al. Among authors: hancarova m. BMC Med Genet. 2017 Jun 2;18(1):62. doi: 10.1186/s12881-017-0425-4. BMC Med Genet. 2017. PMID: 28576131 Free PMC article.

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