170 related articles for article (PubMed ID: 32431071)
1. Mutated RAP1GDS1 causes a new syndrome of dysmorphic feature, intellectual disability & speech delay.
Asiri A; Aloyouni E; Umair M; Alyafee Y; Al Tuwaijri A; Alhamoudi KM; Almuzzaini B; Al Baz A; Alwadaani D; Nashabat M; Alfadhel M
Ann Clin Transl Neurol; 2020 Jun; 7(6):956-964. PubMed ID: 32431071
[TBL] [Abstract][Full Text] [Related]
2. EMC10 homozygous variant identified in a family with global developmental delay, mild intellectual disability, and speech delay.
Umair M; Ballow M; Asiri A; Alyafee Y; Al Tuwaijri A; Alhamoudi KM; Aloraini T; Abdelhakim M; Althagafi AT; Kafkas S; Alsubaie L; Alrifai MT; Hoehndorf R; Alfares A; Alfadhel M
Clin Genet; 2020 Dec; 98(6):555-561. PubMed ID: 32869858
[TBL] [Abstract][Full Text] [Related]
3. Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability.
Van Bergen NJ; Guo Y; Al-Deri N; Lipatova Z; Stanga D; Zhao S; Murtazina R; Gyurkovska V; Pehlivan D; Mitani T; Gezdirici A; Antony J; Collins F; Willis MJH; Coban Akdemir ZH; Liu P; Punetha J; Hunter JV; Jhangiani SN; Fatih JM; Rosenfeld JA; Posey JE; Gibbs RA; Karaca E; Massey S; Ranasinghe TG; Sleiman P; Troedson C; Lupski JR; Sacher M; Segev N; Hakonarson H; Christodoulou J
Brain; 2020 Jan; 143(1):112-130. PubMed ID: 31794024
[TBL] [Abstract][Full Text] [Related]
4. Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigree.
Makrythanasis P; Guipponi M; Santoni FA; Zaki M; Issa MY; Ansar M; Hamamy H; Antonarakis SE
Hum Genomics; 2016 Jul; 10(1):26. PubMed ID: 27421267
[TBL] [Abstract][Full Text] [Related]
5. Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism.
Kim HG; Rosenfeld JA; Scott DA; Bénédicte G; Labonne JD; Brown J; McGuire M; Mahida S; Naidu S; Gutierrez J; Lesca G; des Portes V; Bruel AL; Sorlin A; Xia F; Capri Y; Muller E; McKnight D; Torti E; Rüschendorf F; Hummel O; Islam Z; Kolatkar PR; Layman LC; Ryu D; Kong IK; Madan-Khetarpal S; Kim CH
Mol Autism; 2019; 10():35. PubMed ID: 31649809
[TBL] [Abstract][Full Text] [Related]
6. MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.
Mak CCY; Doherty D; Lin AE; Vegas N; Cho MT; Viot G; Dimartino C; Weisfeld-Adams JD; Lessel D; Joss S; Li C; Gonzaga-Jauregui C; Zarate YA; Ehmke N; Horn D; Troyer C; Kant SG; Lee Y; Ishak GE; Leung G; Barone Pritchard A; Yang S; Bend EG; Filippini F; Roadhouse C; Lebrun N; Mehaffey MG; Martin PM; Apple B; Millan F; Puk O; Hoffer MJV; Henderson LB; McGowan R; Wentzensen IM; Pei S; Zahir FR; Yu M; Gibson WT; Seman A; Steeves M; Murrell JR; Luettgen S; Francisco E; Strom TM; Amlie-Wolf L; Kaindl AM; Wilson WG; Halbach S; Basel-Salmon L; Lev-El N; Denecke J; Vissers LELM; Radtke K; Chelly J; Zackai E; Friedman JM; Bamshad MJ; Nickerson DA; ; Reid RR; Devriendt K; Chae JH; Stolerman E; McDougall C; Powis Z; Bienvenu T; Tan TY; Orenstein N; Dobyns WB; Shieh JT; Choi M; Waggoner D; Gripp KW; Parker MJ; Stoler J; Lyonnet S; Cormier-Daire V; Viskochil D; Hoffman TL; Amiel J; Chung BHY; Gordon CT
Brain; 2020 Jan; 143(1):55-68. PubMed ID: 31834374
[TBL] [Abstract][Full Text] [Related]
7. Is MED13L-related intellectual disability a recognizable syndrome?
Tørring PM; Larsen MJ; Brasch-Andersen C; Krogh LN; Kibæk M; Laulund L; Illum N; Dunkhase-Heinl U; Wiesener A; Popp B; Marangi G; Hjortshøj TD; Ek J; Vogel I; Becher N; Roos L; Zollino M; Fagerberg CR
Eur J Med Genet; 2019 Feb; 62(2):129-136. PubMed ID: 29959045
[TBL] [Abstract][Full Text] [Related]
8. An intronic splice site alteration in combination with a large deletion affecting VPS13B (COH1) causes Cohen syndrome.
Boschann F; Fischer-Zirnsak B; Wienker TF; Holtgrewe M; Seelow D; Eichhorn B; Döhnert S; Fahsold R; Horn D; Graul-Neumann LM
Eur J Med Genet; 2020 Sep; 63(9):103973. PubMed ID: 32505691
[TBL] [Abstract][Full Text] [Related]
9. Targeted next generation sequencing in 112 Chinese patients with intellectual disability/developmental delay: novel mutations and candidate gene.
Yan H; Shi Z; Wu Y; Xiao J; Gu Q; Yang Y; Li M; Gao K; Chen Y; Yang X; Ji H; Cao B; Duan R; Jiang Y; Wang J
BMC Med Genet; 2019 May; 20(1):80. PubMed ID: 31088393
[TBL] [Abstract][Full Text] [Related]
10. Phenotypic expansion in Zhu-Tokita-Takenouchi-Kim syndrome caused by de novo variants in the SON gene.
Slezak R; Smigiel R; Rydzanicz M; Pollak A; Kosinska J; Stawinski P; Malgorzata Sasiadek M; Ploski R
Mol Genet Genomic Med; 2020 Oct; 8(10):e1432. PubMed ID: 32705777
[TBL] [Abstract][Full Text] [Related]
11. Leukoencephalopathy in Al-Raqad syndrome: Expanding the clinical and neuroimaging features caused by a biallelic novel missense variant in DCPS.
Masoudi M; Bereshneh AH; Rasoulinezhad M; Ashrafi MR; Garshasbi M; Tavasoli AR
Am J Med Genet A; 2020 Oct; 182(10):2391-2398. PubMed ID: 32770650
[TBL] [Abstract][Full Text] [Related]
12. Identification and functional characterization of de novo FOXP1 variants provides novel insights into the etiology of neurodevelopmental disorder.
Sollis E; Graham SA; Vino A; Froehlich H; Vreeburg M; Dimitropoulou D; Gilissen C; Pfundt R; Rappold GA; Brunner HG; Deriziotis P; Fisher SE
Hum Mol Genet; 2016 Feb; 25(3):546-57. PubMed ID: 26647308
[TBL] [Abstract][Full Text] [Related]
13. Biallelic deletion in a minimal CAPN15 intron in siblings with a recognizable syndrome of congenital malformations and developmental delay.
Mor-Shaked H; Salah S; Yanovsky-Dagan S; Meiner V; Atawneh OM; Abu-Libdeh B; Elpeleg O; Harel T
Clin Genet; 2021 Apr; 99(4):577-582. PubMed ID: 33410501
[TBL] [Abstract][Full Text] [Related]
14. Variants in DOCK3 cause developmental delay and hypotonia.
Wiltrout K; Ferrer A; van de Laar I; Namekata K; Harada T; Klee EW; Zimmerman MT; Cousin MA; Kempainen JL; Babovic-Vuksanovic D; van Slegtenhorst MA; Aarts-Tesselaar CD; Schnur RE; Andrews M; Shinawi M
Eur J Hum Genet; 2019 Aug; 27(8):1225-1234. PubMed ID: 30976111
[TBL] [Abstract][Full Text] [Related]
15. Heterozygous CAPZA2 mutations cause global developmental delay, hypotonia with epilepsy: a case report and the literature review.
Zhang XM; Xu KL; Kong JH; Dong G; Dong SJ; Yang ZX; Xu SJ; Wang L; Luo SY; Zhang YD; Zhou CC; Gu WY; Mei SY
J Hum Genet; 2024 May; 69(5):197-203. PubMed ID: 38374166
[TBL] [Abstract][Full Text] [Related]
16. Revealing the functions of novel mutations in RAB3GAP1 in Martsolf and Warburg micro syndromes.
Koparir A; Karatas OF; Yilmaz SS; Suer I; Ozer B; Yuceturk B; Ozen M
Am J Med Genet A; 2019 Apr; 179(4):579-587. PubMed ID: 30730599
[TBL] [Abstract][Full Text] [Related]
17. Further supporting evidence for the SATB2-associated syndrome found through whole exome sequencing.
Zarate YA; Perry H; Ben-Omran T; Sellars EA; Stein Q; Almureikhi M; Simmons K; Klein O; Fish J; Feingold M; Douglas J; Kruer MC; Si Y; Mao R; McKnight D; Gibellini F; Retterer K; Slavotinek A
Am J Med Genet A; 2015 May; 167A(5):1026-32. PubMed ID: 25885067
[TBL] [Abstract][Full Text] [Related]
18. Novel SNX13 Frameshift Variant in an Individual with Developmental Delay.
Tao X; Che Y; Li C; Ruan W; Xu J; Yu Y; Yang F; Wang J; Li H
Cytogenet Genome Res; 2021; 161(10-11):514-519. PubMed ID: 34879376
[TBL] [Abstract][Full Text] [Related]
19. Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature.
Ansar M; Chung HL; Al-Otaibi A; Elagabani MN; Ravenscroft TA; Paracha SA; Scholz R; Abdel Magid T; Sarwar MT; Shah SF; Qaisar AA; Makrythanasis P; Marcogliese PC; Kamsteeg EJ; Falconnet E; Ranza E; Santoni FA; Aldhalaan H; Al-Asmari A; Faqeih EA; Ahmed J; Kornau HC; Bellen HJ; Antonarakis SE
Am J Hum Genet; 2019 Nov; 105(5):907-920. PubMed ID: 31607425
[TBL] [Abstract][Full Text] [Related]
20. Splice variant in ARX leading to loss of C-terminal region in a boy with intellectual disability and infantile onset developmental and epileptic encephalopathy.
Shoubridge C; Jackson M; Grinton B; Berkovic SF; Scheffer IE; Huskins S; Thomas A; Ware T
Am J Med Genet A; 2019 Aug; 179(8):1483-1490. PubMed ID: 31145546
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
