These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

183 related articles for article (PubMed ID: 37512036)

  • 1. 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]  

  • 2. 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]  

  • 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. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. 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]  

  • 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. [Clinical phenotype and genetic analysis of MED13L syndrome].
    Meng QJ; He XL; Xiao H; Xia Q; Bi B; Xiang Y
    Zhongguo Dang Dai Er Ke Za Zhi; 2017 Oct; 19(10):1083-1086. PubMed ID: 29046205
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. 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]  

  • 16. 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]  

  • 17. MED13L and its disease-associated variants influence the dendritic development of cerebral cortical neurons in the mammalian brain.
    Hamada N; Iwamoto I; Nagata KI
    J Neurochem; 2023 May; 165(3):334-347. PubMed ID: 36798993
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder.
    Latypova X; Vincent M; Mollé A; Adebambo OA; Fourgeux C; Khan TN; Caro A; Rosello M; Orellana C; Niyazov D; Lederer D; Deprez M; Capri Y; Kannu P; Tabet AC; Levy J; Aten E; den Hollander N; Splitt M; Walia J; Immken LL; Stankiewicz P; McWalter K; Suchy S; Louie RJ; Bell S; Stevenson RE; Rousseau J; Willem C; Retiere C; Yang XJ; Campeau PM; Martinez F; Rosenfeld JA; Le Caignec C; Küry S; Mercier S; Moradkhani K; Conrad S; Besnard T; Cogné B; Katsanis N; Bézieau S; Poschmann J; Davis EE; Isidor B
    Am J Hum Genet; 2021 May; 108(5):929-941. PubMed ID: 33811806
    [TBL] [Abstract][Full Text] [Related]  

  • 19. MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence.
    Gordon CT; Chopra M; Oufadem M; Alibeu O; Bras M; Boddaert N; Bole-Feysot C; Nitschké P; Abadie V; Lyonnet S; Amiel J
    Am J Med Genet A; 2018 Jan; 176(1):181-186. PubMed ID: 29159987
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 10.