Detail
Article
Online article
FT
Medvik - BMC
  • Something wrong with this record ?

Genes and speech

Markéta Vlčková, Hana Řezáčová, Pavel Tesner., Lenka Pospíšilová, Markéta Havlovicová

. 2025 ; 9 (1) : 43-53. [pub] 20250614

Language English Country Czech Republic

Document type Research Support, Non-U.S. Gov't

Persistent link   https://www.medvik.cz/link/bmc25013979

The human genome contains approximately 20,000 protein-coding genes, of which more than 15,000 (3/4) are expressed, among others, in the central nervous system. Variants that damage the function of these genes (called pathogenic variants) can lead to various forms of neurodevelopmental disorders (NDD), including speech and language disorders. These can occur alone or in various combinations. In this review article, we provide information on the possibilities, limits and importance of genetic testing in patients with NDD.

References provided by Crossref.org

000      
00000naa a2200000 a 4500
001      
bmc25013979
003      
CZ-PrNML
005      
20250729204839.0
007      
ta
008      
250715s2025 xr cda f 000 0|eng||
009      
AR
024    7_
$a 10.36833/lkl.2025.009 $2 doi
040    __
$a ABA008 $b cze $d ABA008 $e AACR2
041    0_
$a eng
044    __
$a xr
100    1_
$a Vlčková, Markéta $7 xx0225277 $u Department of Biology and Medical Genetics of the Second Faculty of Medicine of Charles University and Motol University Hospital, Prague 5
245    10
$a Genes and speech / $c Markéta Vlčková, Hana Řezáčová, Pavel Tesner., Lenka Pospíšilová, Markéta Havlovicová
520    9_
$a The human genome contains approximately 20,000 protein-coding genes, of which more than 15,000 (3/4) are expressed, among others, in the central nervous system. Variants that damage the function of these genes (called pathogenic variants) can lead to various forms of neurodevelopmental disorders (NDD), including speech and language disorders. These can occur alone or in various combinations. In this review article, we provide information on the possibilities, limits and importance of genetic testing in patients with NDD.
650    17
$a neurovývojové poruchy $x diagnóza $x etiologie $x genetika $7 D065886 $2 czmesh
650    07
$a vývojové poruchy řeči $x diagnóza $x etiologie $x genetika $7 D007805 $2 czmesh
650    07
$a genetické testování $x metody $7 D005820 $2 czmesh
650    07
$a genetická variace $7 D014644 $2 czmesh
650    07
$a mutace $7 D009154 $2 czmesh
650    07
$a mnohočetné abnormality $x diagnóza $x genetika $7 D000015 $2 czmesh
650    07
$a genetické nemoci vrozené $x diagnóza $x genetika $7 D030342 $2 czmesh
650    07
$a lidé $7 D006801 $2 czmesh
655    _7
$a práce podpořená grantem $7 D013485 $2 czmesh
700    1_
$a Řezáčová, Hana $7 xx0121855 $u Department of Biology and Medical Genetics of the Second Faculty of Medicine of Charles University and Motol University Hospital, Prague 5
700    1_
$a Tesner, Pavel $u Department of Biology and Medical Genetics of the Second Faculty of Medicine of Charles University and Motol University Hospital, Prague 5 $7 xx0242453
700    1_
$a Pospíšilová, Lenka $u Demosthenes – Comprehensive Pediatric Care Centre, Speech and Language Therapy Clinic, Ústí nad Labem $7 xx0142906
700    1_
$a Havlovicová, Markéta $u Department of Biology and Medical Genetics of the Second Faculty of Medicine of Charles University and Motol University Hospital, Prague 5 $7 xx0066532
773    0_
$t Listy klinické logopedie $x 2570-6179 $g Roč. 9, č. 1 (2025), s. 43-53 $w MED00206074
856    41
$u https://casopis.aklcr.cz/en/artkey/lkl-202501-0008_genes-and-speech.php $y plný text volně přístupný
910    __
$a ABA008 $b online $y p $z 0
990    __
$a 20250701 $b ABA008
991    __
$a 20250729204837 $b ABA008
999    __
$a ok $b bmc $g 2358625 $s 1251099
BAS    __
$a 3
BAS    __
$a PreBMC
BMC    __
$a 2025 $b 9 $c 1 $d 43-53 $e 20250614 $i 2570-6179 $m Listy klinické logopedie $x MED00206074
LZP    __
$c NLK183 $d 20250729 $b NLK111 $a Actavia-MED00206074-20250701
Back

Find record

Citation metrics

Archiving options