BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

199 related articles for article (PubMed ID: 35616059)

  • 1. Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder.
    Christensen MB; Levy AM; Mohammadi NA; Niceta M; Kaiyrzhanov R; Dentici ML; Al Alam C; Alesi V; Benoit V; Bhatia KP; Bierhals T; Boßelmann CM; Buratti J; Callewaert B; Ceulemans B; Charles P; De Wachter M; Dehghani M; D'haenens E; Doco-Fenzy M; Geßner M; Gobert C; Guliyeva U; Haack TB; Hammer TB; Heinrich T; Hempel M; Herget T; Hoffmann U; Horvath J; Houlden H; Keren B; Kresge C; Kumps C; Lederer D; Lermine A; Magrinelli F; Maroofian R; Vahidi Mehrjardi MY; Moudi M; Müller AJ; Oostra AJ; Pletcher BA; Ros-Pardo D; Samarasekera S; Tartaglia M; Van Schil K; Vogt J; Wassmer E; Winkelmann J; Zaki MS; Zech M; Lerche H; Radio FC; Gomez-Puertas P; Møller RS; Tümer Z
    Clin Genet; 2022 Aug; 102(2):98-109. PubMed ID: 35616059
    [TBL] [Abstract][Full Text] [Related]  

  • 2. ZNF142 mutation causes neurodevelopmental disorder with speech impairment and seizures: Novel variants and literature review.
    Kamal N; Khamirani HJ; Mohammadi S; Dastgheib SA; Dianatpour M; Tabei SMB
    Eur J Med Genet; 2022 Jul; 65(7):104522. PubMed ID: 35618198
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia.
    Khan K; Zech M; Morgan AT; Amor DJ; Skorvanek M; Khan TN; Hildebrand MS; Jackson VE; Scerri TS; Coleman M; Rigbye KA; Scheffer IE; Bahlo M; Wagner M; Lam DD; Berutti R; Havránková P; Fečíková A; Strom TM; Han V; Dosekova P; Gdovinova Z; Laccone F; Jameel M; Mooney MR; Baig SM; Jech R; Davis EE; Katsanis N; Winkelmann J
    Genet Med; 2019 Nov; 21(11):2532-2542. PubMed ID: 31036918
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Biallelic null variants in ZNF142 cause global developmental delay with familial epilepsy and dysmorphic features.
    Kameyama S; Mizuguchi T; Fukuda H; Moey LH; Keng WT; Okamoto N; Tsuchida N; Uchiyama Y; Koshimizu E; Hamanaka K; Fujita A; Miyatake S; Matsumoto N
    J Hum Genet; 2022 Mar; 67(3):169-173. PubMed ID: 34531528
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.
    Maroofian R; Kaiyrzhanov R; Cali E; Zamani M; Zaki MS; Ferla M; Tortora D; Sadeghian S; Saadi SM; Abdullah U; Karimiani EG; Efthymiou S; Yeşil G; Alavi S; Al Shamsi AM; Tajsharghi H; Abdel-Hamid MS; Saadi NW; Al Mutairi F; Alabdi L; Beetz C; Ali Z; Toosi MB; Rudnik-Schöneborn S; Babaei M; Isohanni P; Muhammad J; Khan S; Al Shalan M; Hickey SE; Marom D; Elhanan E; Kurian MA; Marafi D; Saberi A; Hamid M; Spaull R; Meng L; Lalani S; Maqbool S; Rahman F; Seeger J; Palculict TB; Lau T; Murphy D; Mencacci NE; Steindl K; Begemann A; Rauch A; Akbas S; Aslanger AD; Salpietro V; Yousaf H; Ben-Shachar S; Ejeskär K; Al Aqeel AI; High FA; Armstrong-Javors AE; Zahraei SM; Seifi T; Zeighami J; Shariati G; Sedaghat A; Asl SN; Shahrooei M; Zifarelli G; Burglen L; Ravelli C; Zschocke J; Schatz UA; Ghavideldarestani M; Kamel WA; Van Esch H; Hackenberg A; Taylor JC; Al-Gazali L; Bauer P; Gleeson JJ; Alkuraya FS; Lupski JR; Galehdari H; Azizimalamiri R; Chung WK; Baig SM; Houlden H; Severino M
    Brain; 2023 Dec; 146(12):5031-5043. PubMed ID: 37517035
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A case report of a patient with neurodevelopmental disorder with impaired speech and hyperkinetic movements: A biallelic variant in the ZNF142 gene.
    Kaya D; Ceylan Köse C; Akcan MB; Silan F
    Am J Med Genet A; 2024 Apr; ():e63636. PubMed ID: 38655717
    [TBL] [Abstract][Full Text] [Related]  

  • 7. De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities.
    Ward SK; Wadley A; Tsai CA; Benke PJ; Emrick L; Fisher K; Houck KM; Dai H; ; Guillen Sacoto MJ; Craigen W; Glaser K; Murdock DR; Rohena L; Diderich KEM; Bruggenwirth HT; Lee B; Bacino C; Burrage LC; Rosenfeld JA
    Am J Med Genet A; 2024 Jan; 194(1):17-30. PubMed ID: 37743782
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Delineating the genotypic and phenotypic spectrum of
    Acharya A; Kavus H; Dunn P; Nasir A; Folk L; Withrow K; Wentzensen IM; Ruzhnikov MRZ; Fallot C; Smol T; Rama M; Brown K; Whalen S; Ziegler A; Barth M; Chassevent A; Smith-Hicks C; Afenjar A; Courtin T; Heide S; Font-Montgomery E; Heid C; Hamm JA; Love DR; Thabet F; Misra VK; Cunningham M; Leal SM; Jarvela I; Normand EA; Zou F; Helal M; Keren B; Torti E; Chung WK; Schrauwen I
    J Med Genet; 2022 Jul; 59(7):669-677. PubMed ID: 34321324
    [TBL] [Abstract][Full Text] [Related]  

  • 9. De novo variants in CNOT9 cause a neurodevelopmental disorder with or without epilepsy.
    von Wintzingerode L; Ben-Zeev B; Cesario C; Chan KM; Depienne C; Elpeleg O; Iascone M; Kelley WV; Nassogne MC; Niceta M; Pezzani L; Rahner N; Revencu N; Bekheirnia MR; Santiago-Sim T; Tartaglia M; Thompson ML; Trivisano M; Hentschel J; Sticht H; Abou Jamra R; Oppermann H
    Genet Med; 2023 Jul; 25(7):100859. PubMed ID: 37092538
    [TBL] [Abstract][Full Text] [Related]  

  • 10. De novo variants in AGO1 recapitulate a heterogeneous neurodevelopmental disorder phenotype.
    Niu Y; Qian Q; Li J; Gong P; Jiao X; Mao X; Xiao B; Long L; Yang Z
    Clin Genet; 2022 Apr; 101(4):459-465. PubMed ID: 35060114
    [TBL] [Abstract][Full Text] [Related]  

  • 11. CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology.
    Oppermann H; Marcos-Grañeda E; Weiss LA; Gurnett CA; Jelsig AM; Vineke SH; Isidor B; Mercier S; Magnussen K; Zacher P; Hashim M; Pagnamenta AT; Race S; Srivastava S; Frazier Z; Maiwald R; Pergande M; Milani D; Rinelli M; Levy J; Krey I; Fontana P; Lonardo F; Riley S; Kretzer J; Rankin J; Reis LM; Semina EV; Reuter MS; Scherer SW; Iascone M; Weis D; Fagerberg CR; Brasch-Andersen C; Hansen LK; Kuechler A; Noble N; Gardham A; Tenney J; Rathore G; Beck-Woedl S; Haack TB; Pavlidou DC; Atallah I; Vodopiutz J; Janecke AR; Hsieh TC; Lesmann H; Klinkhammer H; Krawitz PM; Lemke JR; Jamra RA; Nieto M; Tümer Z; Platzer K
    Eur J Hum Genet; 2023 Nov; 31(11):1251-1260. PubMed ID: 37644171
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Expanding the clinical phenotype and genetic spectrum of PURA-related neurodevelopmental disorders.
    Choi SA; Lee HS; Park TJ; Park S; Ko YJ; Kim SY; Lim BC; Kim KJ; Chae JH
    Brain Dev; 2021 Oct; 43(9):912-918. PubMed ID: 34116881
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt.
    Shepherdson JL; Hutchison K; Don DW; McGillivray G; Choi TI; Allan CA; Amor DJ; Banka S; Basel DG; Buch LD; Carere DA; Carroll R; Clayton-Smith J; Crawford A; Dunø M; Faivre L; Gilfillan CP; Gold NB; Gripp KW; Hobson E; Holtz AM; Innes AM; Isidor B; Jackson A; Katsonis P; Amel Riazat Kesh L; ; Küry S; Lecoquierre F; Lockhart P; Maraval J; Matsumoto N; McCarrier J; McCarthy J; Miyake N; Moey LH; Németh AH; Østergaard E; Patel R; Pope K; Posey JE; Schnur RE; Shaw M; Stolerman E; Taylor JP; Wadman E; Wakeling E; White SM; Wong LC; Lupski JR; Lichtarge O; Corbett MA; Gecz J; Nicolet CM; Farnham PJ; Kim CH; Shinawi M
    Am J Hum Genet; 2024 Mar; 111(3):487-508. PubMed ID: 38325380
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Consolidating the association of biallelic
    Maroofian R; Efthymiou S; Suri M; Rahman F; Zaki MS; Maqbool S; Anwa N; Ruiz-Pérez VL; Yanovsky-Dagan S; Elpeleg O; Sudhakar S; Mankad K; Harel T; Houlden H
    J Med Genet; 2023 Aug; 60(8):791-796. PubMed ID: 36581449
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A deleterious frameshift insertion mutation in the ZNF142 gene leads to intellectual developmental disorder with impaired speech in three affected siblings: Clinical features and literature review.
    Mir A; Song Y; Lee H; Montazer-Zohouri M; Reisi M; Tabatabaiefar MA
    Mol Genet Genomic Med; 2023 Dec; 11(12):e2261. PubMed ID: 37496384
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Biallelic variants in SLC4A10 encoding a sodium-dependent bicarbonate transporter lead to a neurodevelopmental disorder.
    Maroofian R; Zamani M; Kaiyrzhanov R; Liebmann L; Karimiani EG; Vona B; Huebner AK; Calame DG; Misra VK; Sadeghian S; Azizimalamiri R; Mohammadi MH; Zeighami J; Heydaran S; Toosi MB; Akhondian J; Babaei M; Hashemi N; Schnur RE; Suri M; Setzke J; Wagner M; Brunet T; Grochowski CM; Emrick L; Chung WK; Hellmich UA; Schmidts M; Lupski JR; Galehdari H; Severino M; Houlden H; Hübner CA
    Genet Med; 2024 Mar; 26(3):101034. PubMed ID: 38054405
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders.
    Langhammer F; Maroofian R; Badar R; Gregor A; Rochman M; Ratliff JB; Koopmans M; Herget T; Hempel M; Kortüm F; Heron D; Mignot C; Keren B; Brooks S; Botti C; Ben-Zeev B; Argilli E; Sherr EH; Gowda VK; Srinivasan VM; Bakhtiari S; Kruer MC; Salih MA; Kuechler A; Muller EA; Blocker K; Kuismin O; Park KL; Kochhar A; Brown K; Ramanathan S; Clark RD; Elgizouli M; Melikishvili G; Tabatadze N; Stark Z; Mirzaa GM; Ong J; Grasshoff U; Bevot A; von Wintzingerode L; Jamra RA; Hennig Y; Goldenberg P; Al Alam C; Charif M; Boulouiz R; Bellaoui M; Amrani R; Al Mutairi F; Tamim AM; Abdulwahab F; Alkuraya FS; Khouj EM; Alvi JR; Sultan T; Hashemi N; Karimiani EG; Ashrafzadeh F; Imannezhad S; Efthymiou S; Houlden H; Sticht H; Zweier C
    Genet Med; 2023 Aug; 25(8):100885. PubMed ID: 37165955
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy.
    Fatima A; Hoeber J; Schuster J; Koshimizu E; Maya-Gonzalez C; Keren B; Mignot C; Akram T; Ali Z; Miyatake S; Tanigawa J; Koike T; Kato M; Murakami Y; Abdullah U; Ali MA; Fadoul R; Laan L; Castillejo-López C; Liik M; Jin Z; Birnir B; Matsumoto N; Baig SM; Klar J; Dahl N
    Am J Hum Genet; 2021 Apr; 108(4):739-748. PubMed ID: 33711248
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects.
    Coursimault J; Guerrot AM; Morrow MM; Schramm C; Zamora FM; Shanmugham A; Liu S; Zou F; Bilan F; Le Guyader G; Bruel AL; Denommé-Pichon AS; Faivre L; Tran Mau-Them F; Tessarech M; Colin E; El Chehadeh S; Gérard B; Schaefer E; Cogne B; Isidor B; Nizon M; Doummar D; Valence S; Héron D; Keren B; Mignot C; Coutton C; Devillard F; Alaix AS; Amiel J; Colleaux L; Munnich A; Poirier K; Rio M; Rondeau S; Barcia G; Callewaert B; Dheedene A; Kumps C; Vergult S; Menten B; Chung WK; Hernan R; Larson A; Nori K; Stewart S; Wheless J; Kresge C; Pletcher BA; Caumes R; Smol T; Sigaudy S; Coubes C; Helm M; Smith R; Morrison J; Wheeler PG; Kritzer A; Jouret G; Afenjar A; Deleuze JF; Olaso R; Boland A; Poitou C; Frebourg T; Houdayer C; Saugier-Veber P; Nicolas G; Lecoquierre F
    Hum Genet; 2022 Jan; 141(1):65-80. PubMed ID: 34748075
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.