BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

261 related articles for article (PubMed ID: 29490693)

  • 21. Genetic basis of neurodevelopmental disorders in 103 Jordanian families.
    Froukh T; Nafie O; Al Hait SAS; Laugwitz L; Sommerfeld J; Sturm M; Baraghiti A; Issa T; Al-Nazer A; Koch PA; Hanselmann J; Kootz B; Bauer P; Al-Ameri W; Abou Jamra R; Alfrook AJ; Hamadallah M; Sofan L; Riess A; Haack TB; Riess O; Buchert R
    Clin Genet; 2020 Apr; 97(4):621-627. PubMed ID: 32056211
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Identification of microduplications at Xp21.2 and Xq13.1 in neurodevelopmental disorders.
    Kokkonen H; Siren A; Määttä T; Kamila Kadlubowska M; Acharya A; Nouel-Saied LM; Leal SM; Järvelä I; Schrauwen I
    Mol Genet Genomic Med; 2021 Dec; 9(12):e1703. PubMed ID: 33982443
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Novel PAK3 gene missense variant associated with two Chinese siblings with intellectual disability: a case report.
    Qian Y; Wu B; Lu Y; Zhou W; Wang S; Wang H
    BMC Med Genet; 2020 Feb; 21(1):31. PubMed ID: 32050918
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland.
    Järvelä I; Määttä T; Acharya A; Leppälä J; Jhangiani SN; Arvio M; Siren A; Kankuri-Tammilehto M; Kokkonen H; Palomäki M; Varilo T; Fang M; Hadley TD; Jolly A; Linnankivi T; Paetau R; Saarela A; Kälviäinen R; Olme J; Nouel-Saied LM; Cornejo-Sanchez DM; Llaci L; Lupski JR; Posey JE; Leal SM; Schrauwen I
    Hum Genet; 2021 Jul; 140(7):1011-1029. PubMed ID: 33710394
    [TBL] [Abstract][Full Text] [Related]  

  • 25. The variant landscape and function of DDX3X in cancer and neurodevelopmental disorders.
    Gadek M; Sherr EH; Floor SN
    Trends Mol Med; 2023 Sep; 29(9):726-739. PubMed ID: 37422363
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Reciprocal Xp11.4p11.3 microdeletion/microduplication spanning USP9X, DDX3X, and CASK genes in two patients with syndromic intellectual disability.
    Catino G; Genovese S; Di Tommaso S; Orlando V; Petti MT; De Bernardi ML; Dallapiccola B; Novelli A; Ulgheri L; Piscopo C; Alesi V
    Am J Med Genet A; 2022 Jun; 188(6):1836-1847. PubMed ID: 35238482
    [TBL] [Abstract][Full Text] [Related]  

  • 27. De novo mutations in HNRNPU result in a neurodevelopmental syndrome.
    Yates TM; Vasudevan PC; Chandler KE; Donnelly DE; Stark Z; Sadedin S; Willoughby J; ; ; Balasubramanian M
    Am J Med Genet A; 2017 Nov; 173(11):3003-3012. PubMed ID: 28944577
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Novel variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability in Iranian consanguineous families.
    Moudi M; Vahidi Mehrjardi MY; Hozhabri H; Metanat Z; Kalantar SM; Taheri M; Ghasemi N; Dehghani M
    J Clin Lab Anal; 2022 Feb; 36(2):e24241. PubMed ID: 35019165
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Case Report:
    Sun Y; Qian Y; Sun HX; Chen M; Luo Y; Xu X; Yan K; Wang L; Hu J; Dong M
    Front Genet; 2022; 13():999442. PubMed ID: 36299587
    [TBL] [Abstract][Full Text] [Related]  

  • 30. SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.
    Radio FC; Pang K; Ciolfi A; Levy MA; Hernández-García A; Pedace L; Pantaleoni F; Liu Z; de Boer E; Jackson A; Bruselles A; McConkey H; Stellacci E; Lo Cicero S; Motta M; Carrozzo R; Dentici ML; McWalter K; Desai M; Monaghan KG; Telegrafi A; Philippe C; Vitobello A; Au M; Grand K; Sanchez-Lara PA; Baez J; Lindstrom K; Kulch P; Sebastian J; Madan-Khetarpal S; Roadhouse C; MacKenzie JJ; Monteleone B; Saunders CJ; Jean Cuevas JK; Cross L; Zhou D; Hartley T; Sawyer SL; Monteiro FP; Secches TV; Kok F; Schultz-Rogers LE; Macke EL; Morava E; Klee EW; Kemppainen J; Iascone M; Selicorni A; Tenconi R; Amor DJ; Pais L; Gallacher L; Turnpenny PD; Stals K; Ellard S; Cabet S; Lesca G; Pascal J; Steindl K; Ravid S; Weiss K; Castle AMR; Carter MT; Kalsner L; de Vries BBA; van Bon BW; Wevers MR; Pfundt R; Stegmann APA; Kerr B; Kingston HM; Chandler KE; Sheehan W; Elias AF; Shinde DN; Towne MC; Robin NH; Goodloe D; Vanderver A; Sherbini O; Bluske K; Hagelstrom RT; Zanus C; Faletra F; Musante L; Kurtz-Nelson EC; Earl RK; Anderlid BM; Morin G; van Slegtenhorst M; Diderich KEM; Brooks AS; Gribnau J; Boers RG; Finestra TR; Carter LB; Rauch A; Gasparini P; Boycott KM; Barakat TS; Graham JM; Faivre L; Banka S; Wang T; Eichler EE; Priolo M; Dallapiccola B; Vissers LELM; Sadikovic B; Scott DA; Holder JL; Tartaglia M
    Am J Hum Genet; 2021 Mar; 108(3):502-516. PubMed ID: 33596411
    [TBL] [Abstract][Full Text] [Related]  

  • 31. A biallelic loss-of-function variant in TMEM147 causes profound intellectual disability and spasticity.
    Ghorashi T; Darvish H; Bakhtiari S; Tafakhori A; Kruer MC; Mozdarani H
    Neurogenetics; 2023 Oct; 24(4):311-316. PubMed ID: 37668766
    [TBL] [Abstract][Full Text] [Related]  

  • 32. De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy.
    Usmani MA; Ahmed ZM; Magini P; Pienkowski VM; Rasmussen KJ; Hernan R; Rasheed F; Hussain M; Shahzad M; Lanpher BC; Niu Z; Lim FY; Pippucci T; Ploski R; Kraus V; Matuszewska K; Palombo F; Kianmahd J; ; Martinez-Agosto JA; Lee H; Colao E; Motazacker MM; Brigatti KW; Puffenberger EG; Riazuddin SA; Gonzaga-Jauregui C; Chung WK; Wagner M; Schultz MJ; Seri M; Kievit AJA; Perrotti N; Wassink-Ruiter JSK; van Bokhoven H; Riazuddin S; Riazuddin S
    Am J Hum Genet; 2021 Jul; 108(7):1330-1341. PubMed ID: 34102099
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Exome sequencing reveals NAA15 and PUF60 as candidate genes associated with intellectual disability.
    Zhao JJ; Halvardson J; Zander CS; Zaghlool A; Georgii-Hemming P; Månsson E; Brandberg G; Sävmarker HE; Frykholm C; Kuchinskaya E; Thuresson AC; Feuk L
    Am J Med Genet B Neuropsychiatr Genet; 2018 Jan; 177(1):10-20. PubMed ID: 28990276
    [TBL] [Abstract][Full Text] [Related]  

  • 34. A comprehensive review on DDX3X liquid phase condensation in health and neurodevelopmental disorders.
    Rosa E Silva I; Smetana JHC; de Oliveira JF
    Int J Biol Macromol; 2024 Feb; 259(Pt 2):129330. PubMed ID: 38218270
    [TBL] [Abstract][Full Text] [Related]  

  • 35. DDX3X Syndrome: Summary of Findings and Recommendations for Evaluation and Care.
    Levy T; Siper PM; Lerman B; Halpern D; Zweifach J; Belani P; Thurm A; Kleefstra T; Berry-Kravis E; Buxbaum JD; Grice DE
    Pediatr Neurol; 2023 Jan; 138():87-94. PubMed ID: 36434914
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Syndromic neurodevelopmental disorder associated with de novo variants in DDX23.
    Burns W; Bird LM; Heron D; Keren B; Ramachandra D; Thiffault I; Del Viso F; Amudhavalli S; Engleman K; Parenti I; Kaiser FJ; Wierzba J; Riedhammer KM; Liptay S; Zadeh N; Porrmann J; Fischer A; Gößwein S; McLaughlin HM; Telegrafi A; Langley KG; Steet R; Louie RJ; Lyons MJ
    Am J Med Genet A; 2021 Oct; 185(10):2863-2872. PubMed ID: 34050707
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies.
    Fountain MD; Oleson DS; Rech ME; Segebrecht L; Hunter JV; McCarthy JM; Lupo PJ; Holtgrewe M; Moran R; Rosenfeld JA; Isidor B; Le Caignec C; Saenz MS; Pedersen RC; Morgan TM; Pfotenhauer JP; Xia F; Bi W; Kang SL; Patel A; Krantz ID; Raible SE; Smith W; Cristian I; Torti E; Juusola J; Millan F; Wentzensen IM; Person RE; Küry S; Bézieau S; Uguen K; Férec C; Munnich A; van Haelst M; Lichtenbelt KD; van Gassen K; Hagelstrom T; Chawla A; Perry DL; Taft RJ; Jones M; Masser-Frye D; Dyment D; Venkateswaran S; Li C; Escobar LF; Horn D; Spillmann RC; Peña L; Wierzba J; Strom TM; Parenti I; Kaiser FJ; Ehmke N; Schaaf CP
    Genet Med; 2019 Aug; 21(8):1797-1807. PubMed ID: 30679821
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Sex-Based Analysis of De Novo Variants in Neurodevelopmental Disorders.
    Turner TN; Wilfert AB; Bakken TE; Bernier RA; Pepper MR; Zhang Z; Torene RI; Retterer K; Eichler EE
    Am J Hum Genet; 2019 Dec; 105(6):1274-1285. PubMed ID: 31785789
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Differences in Expression of
    Baladron B; Mielu LM; López-Martín E; Barrero MJ; Lopez L; Alvarado JI; Monzón S; Varona S; Cuesta I; Cazorla R; Lara J; Iglesias G; Román E; Ros P; Gomez-Mariano G; Cubillo I; Miguel EH; Rivera D; Alonso J; Bermejo-Sánchez E; Posada M; Martínez-Delgado B
    Int J Mol Sci; 2022 Aug; 23(16):. PubMed ID: 36012761
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples.
    Giorgio E; Ciolfi A; Biamino E; Caputo V; Di Gregorio E; Belligni EF; Calcia A; Gaidolfi E; Bruselles A; Mancini C; Cavalieri S; Molinatto C; Cirillo Silengo M; Ferrero GB; Tartaglia M; Brusco A
    Am J Med Genet A; 2016 Jul; 170(7):1772-9. PubMed ID: 27108886
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 14.