633 related articles for article (PubMed ID: 29959045)
1. 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]
2. Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation.
Asadollahi R; Zweier M; Gogoll L; Schiffmann R; Sticht H; Steindl K; Rauch A
Eur J Med Genet; 2017 Sep; 60(9):451-464. PubMed ID: 28645799
[TBL] [Abstract][Full Text] [Related]
3. Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome.
Cafiero C; Marangi G; Orteschi D; Ali M; Asaro A; Ponzi E; Moncada A; Ricciardi S; Murdolo M; Mancano G; Contaldo I; Leuzzi V; Battaglia D; Mercuri E; Slavotinek AM; Zollino M
Eur J Hum Genet; 2015 Nov; 23(11):1499-504. PubMed ID: 25712080
[TBL] [Abstract][Full Text] [Related]
4. Report of a de novo c.2605C > T (p.Pro869Ser) change in the MED13L gene and review of the literature for MED13L-related intellectual disability.
Yi Z; Zhang Y; Song Z; Pan H; Yang C; Li F; Xue J; Qu Z
Ital J Pediatr; 2020 Jul; 46(1):95. PubMed ID: 32646507
[TBL] [Abstract][Full Text] [Related]
5. MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype.
Smol T; Petit F; Piton A; Keren B; Sanlaville D; Afenjar A; Baker S; Bedoukian EC; Bhoj EJ; Bonneau D; Boudry-Labis E; Bouquillon S; Boute-Benejean O; Caumes R; Chatron N; Colson C; Coubes C; Coutton C; Devillard F; Dieux-Coeslier A; Doco-Fenzy M; Ewans LJ; Faivre L; Fassi E; Field M; Fournier C; Francannet C; Genevieve D; Giurgea I; Goldenberg A; Green AK; Guerrot AM; Heron D; Isidor B; Keena BA; Krock BL; Kuentz P; Lapi E; Le Meur N; Lesca G; Li D; Marey I; Mignot C; Nava C; Nesbitt A; Nicolas G; Roche-Lestienne C; Roscioli T; Satre V; Santani A; Stefanova M; Steinwall Larsen S; Saugier-Veber P; Picker-Minh S; Thuillier C; Verloes A; Vieville G; Wenzel M; Willems M; Whalen S; Zarate YA; Ziegler A; Manouvrier-Hanu S; Kalscheuer VM; Gerard B; Ghoumid J
Neurogenetics; 2018 May; 19(2):93-103. PubMed ID: 29511999
[TBL] [Abstract][Full Text] [Related]
6. MED13L haploinsufficiency syndrome: A de novo frameshift and recurrent intragenic deletions due to parental mosaicism.
Yamamoto T; Shimojima K; Ondo Y; Shimakawa S; Okamoto N
Am J Med Genet A; 2017 May; 173(5):1264-1269. PubMed ID: 28371282
[TBL] [Abstract][Full Text] [Related]
7. Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability.
Asadollahi R; Oneda B; Sheth F; Azzarello-Burri S; Baldinger R; Joset P; Latal B; Knirsch W; Desai S; Baumer A; Houge G; Andrieux J; Rauch A
Eur J Hum Genet; 2013 Oct; 21(10):1100-4. PubMed ID: 23403903
[TBL] [Abstract][Full Text] [Related]
8. De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.
Vetrini F; McKee S; Rosenfeld JA; Suri M; Lewis AM; Nugent KM; Roeder E; Littlejohn RO; Holder S; Zhu W; Alaimo JT; Graham B; Harris JM; Gibson JB; Pastore M; McBride KL; Komara M; Al-Gazali L; Al Shamsi A; Fanning EA; Wierenga KJ; Scott DA; Ben-Neriah Z; Meiner V; Cassuto H; Elpeleg O; Holder JL; Burrage LC; Seaver LH; Van Maldergem L; Mahida S; Soul JS; Marlatt M; Matyakhina L; Vogt J; Gold JA; Park SM; Varghese V; Lampe AK; Kumar A; Lees M; Holder-Espinasse M; McConnell V; Bernhard B; Blair E; Harrison V; ; Muzny DM; Gibbs RA; Elsea SH; Posey JE; Bi W; Lalani S; Xia F; Yang Y; Eng CM; Lupski JR; Liu P
Genome Med; 2019 Feb; 11(1):12. PubMed ID: 30819258
[TBL] [Abstract][Full Text] [Related]
9. De novo mutations in genes of mediator complex causing syndromic intellectual disability: mediatorpathy or transcriptomopathy?
Caro-Llopis A; Rosello M; Orellana C; Oltra S; Monfort S; Mayo S; Martinez F
Pediatr Res; 2016 Dec; 80(6):809-815. PubMed ID: 27500536
[TBL] [Abstract][Full Text] [Related]
10. Further confirmation of the MED13L haploinsufficiency syndrome.
van Haelst MM; Monroe GR; Duran K; van Binsbergen E; Breur JM; Giltay JC; van Haaften G
Eur J Hum Genet; 2015 Jan; 23(1):135-8. PubMed ID: 24781760
[TBL] [Abstract][Full Text] [Related]
11. Redefining the MED13L syndrome.
Adegbola A; Musante L; Callewaert B; Maciel P; Hu H; Isidor B; Picker-Minh S; Le Caignec C; Delle Chiaie B; Vanakker O; Menten B; Dheedene A; Bockaert N; Roelens F; Decaestecker K; Silva J; Soares G; Lopes F; Najmabadi H; Kahrizi K; Cox GF; Angus SP; Staropoli JF; Fischer U; Suckow V; Bartsch O; Chess A; Ropers HH; Wienker TF; Hübner C; Kaindl AM; Kalscheuer VM
Eur J Hum Genet; 2015 Oct; 23(10):1308-17. PubMed ID: 25758992
[TBL] [Abstract][Full Text] [Related]
12.
Bessenyei B; Balogh I; Mokánszki A; Ujfalusi A; Pfundt R; Szakszon K
Cold Spring Harb Mol Case Stud; 2022 Jan; 8(1):. PubMed ID: 34654706
[TBL] [Abstract][Full Text] [Related]
13. Two novel pathogenic variants in MED13L: one familial and one isolated case.
Carvalho LML; da Costa SS; Campagnari F; Kaufman A; Bertola DR; da Silva IT; Krepischi ACV; Koiffmann CP; Rosenberg C
J Intellect Disabil Res; 2021 Dec; 65(12):1049-1057. PubMed ID: 34713510
[TBL] [Abstract][Full Text] [Related]
14. De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder.
Calpena E; Hervieu A; Kaserer T; Swagemakers SMA; Goos JAC; Popoola O; Ortiz-Ruiz MJ; Barbaro-Dieber T; Bownass L; Brilstra EH; Brimble E; Foulds N; Grebe TA; Harder AVE; Lees MM; Monaghan KG; Newbury-Ecob RA; Ong KR; Osio D; Reynoso Santos FJ; Ruzhnikov MRZ; Telegrafi A; van Binsbergen E; van Dooren MF; ; van der Spek PJ; Blagg J; Twigg SRF; Mathijssen IMJ; Clarke PA; Wilkie AOM
Am J Hum Genet; 2019 Apr; 104(4):709-720. PubMed ID: 30905399
[TBL] [Abstract][Full Text] [Related]
15. Impaired development of neural-crest cell-derived organs and intellectual disability caused by MED13L haploinsufficiency.
Utami KH; Winata CL; Hillmer AM; Aksoy I; Long HT; Liany H; Chew EG; Mathavan S; Tay SK; Korzh V; Sarda P; Davila S; Cacheux V
Hum Mutat; 2014 Nov; 35(11):1311-20. PubMed ID: 25137640
[TBL] [Abstract][Full Text] [Related]
16. Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect.
Nizon M; Laugel V; Flanigan KM; Pastore M; Waldrop MA; Rosenfeld JA; Marom R; Xiao R; Gerard A; Pichon O; Le Caignec C; Gérard M; Dieterich K; Truitt Cho M; McWalter K; Hiatt S; Thompson ML; Bézieau S; Wadley A; Wierenga KJ; Egly JM; Isidor B
Genet Med; 2019 Dec; 21(12):2713-2722. PubMed ID: 31155615
[TBL] [Abstract][Full Text] [Related]
17. The
Dawidziuk M; Kutkowska-Kaźmierczak A; Gawliński P; Wiszniewski W; Gos M; Stawiński P; Rydzanicz M; Kosińska J; Własienko P; Malinowska Kordowska O; Bartnik-Głaska M; Bernaciak J; Szczałuba K; Bekiesińska-Figatowska M; Płoski R; Bal J; Olimpia Rzońca-Niewczas S
J Mother Child; 2021 Apr; 24(3):32-36. PubMed ID: 33930262
[TBL] [Abstract][Full Text] [Related]
18. Molecular and Functional Characterisation of a Novel Intragenic 12q24.21 Deletion Resulting in
Siavrienė E; Petraitytė G; Mikštienė V; Maldžienė Ž; Sasnauskienė A; Žitkutė V; Ambrozaitytė L; Rančelis T; Utkus A; Kučinskas V; Preikšaitienė E
Medicina (Kaunas); 2023 Jun; 59(7):. PubMed ID: 37512036
[No Abstract] [Full Text] [Related]
19. Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic features.
Battaglia A; Doccini V; Bernardini L; Novelli A; Loddo S; Capalbo A; Filippi T; Carey JC
Eur J Paediatr Neurol; 2013 Nov; 17(6):589-99. PubMed ID: 23711909
[TBL] [Abstract][Full Text] [Related]
20. Pathogenic variants in
Granadillo JL; P A Stegmann A; Guo H; Xia K; Angle B; Bontempo K; Ranells JD; Newkirk P; Costin C; Viront J; Stumpel CT; Sinnema M; Panis B; Pfundt R; Krapels IPC; Klaassens M; Nicolai J; Li J; Jiang Y; Marco E; Canton A; Latronico AC; Montenegro L; Leheup B; Bonnet C; M Amudhavalli S; Lawson CE; McWalter K; Telegrafi A; Pearson R; Kvarnung M; Wang X; Bi W; Rosenfeld JA; Shinawi M
J Med Genet; 2020 Oct; 57(10):717-724. PubMed ID: 32152250
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
