BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

132 related articles for article (PubMed ID: 28933030)

  • 1. Phenotype comparison confirms ZMYND11 as a critical gene for 10p15.3 microdeletion syndrome.
    Tumiene B; Čiuladaitė Ž; Preikšaitienė E; Mameniškienė R; Utkus A; Kučinskas V
    J Appl Genet; 2017 Nov; 58(4):467-474. PubMed ID: 28933030
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Intragenic Deletion of the ZMYND11 Gene in 10p15.3 is Associated with Developmental Delay Phenotype: A Case Report.
    Huynh MT; Tran CT; Joubert M; Bénéteau C
    Cytogenet Genome Res; 2021; 161(8-9):445-448. PubMed ID: 34818214
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A de novo mutation in ZMYND11, a candidate gene for 10p15.3 deletion syndrome, is associated with syndromic intellectual disability.
    Cobben JM; Weiss MM; van Dijk FS; De Reuver R; de Kruiff C; Pondaag W; Hennekam RC; Yntema HG
    Eur J Med Genet; 2014; 57(11-12):636-8. PubMed ID: 25281490
    [TBL] [Abstract][Full Text] [Related]  

  • 4. [A case of 10p15.3 microdeletion syndrome detected by whole exome sequencing].
    Chen W; Fu N; Liang J; Qin J
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 Apr; 36(4):331-335. PubMed ID: 30950019
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases.
    Novara F; Rinaldi B; Sisodiya SM; Coppola A; Giglio S; Stanzial F; Benedicenti F; Donaldson A; Andrieux J; Stapleton R; Weber A; Reho P; van Ravenswaaij-Arts C; Kerstjens-Frederikse WS; Vermeesch JR; Devriendt K; Bacino CA; Delahaye A; Maas SM; Iolascon A; Zuffardi O
    Eur J Hum Genet; 2017 Jun; 25(6):694-701. PubMed ID: 28422132
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A new familial case of microdeletion syndrome 10p15.3.
    Eggert M; Müller S; Heinrich U; Mehraein Y
    Eur J Med Genet; 2016 Apr; 59(4):179-82. PubMed ID: 26921531
    [TBL] [Abstract][Full Text] [Related]  

  • 7. ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder.
    Oates S; Absoud M; Goyal S; Bayley S; Baulcomb J; Sims A; Riddett A; Allis K; Brasch-Andersen C; Balasubramanian M; Bai R; Callewaert B; Hüffmeier U; Le Duc D; Radtke M; Korff C; Kennedy J; Low K; Møller RS; Nielsen JEK; Popp B; Quteineh L; Rønde G; Schönewolf-Greulich B; Shillington A; Taylor MR; Todd E; Torring PM; Tümer Z; Vasileiou G; Yates TM; Zweier C; Rosch R; Basson MA; Pal DK
    Clin Genet; 2021 Oct; 100(4):412-429. PubMed ID: 34216016
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. A de novo missense mutation in ZMYND11 is associated with global developmental delay, seizures, and hypotonia.
    Moskowitz AM; Belnap N; Siniard AL; Szelinger S; Claasen AM; Richholt RF; De Both M; Corneveaux JJ; Balak C; Piras IS; Russell M; Courtright AL; Rangasamy S; Ramsey K; Craig DW; Narayanan V; Huentelman MJ; Schrauwen I
    Cold Spring Harb Mol Case Stud; 2016 Sep; 2(5):a000851. PubMed ID: 27626064
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Expanding the Neurological Phenotype of Ring Chromosome 10 Syndrome: A Case Report and Review of the Literature.
    Pruccoli J; Graziano C; Locatelli C; Maltoni L; Sheikh Maye HA; Cordelli DM
    Genes (Basel); 2021 Sep; 12(10):. PubMed ID: 34680908
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Further Delineation of Clinical Phenotype of
    Bodetko A; Chrzanowska J; Rydzanicz M; Borys-Iwanicka A; Karpinski P; Bladowska J; Ploski R; Smigiel R
    Genes (Basel); 2024 Feb; 15(2):. PubMed ID: 38397245
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity.
    Witteveen JS; Willemsen MH; Dombroski TC; van Bakel NH; Nillesen WM; van Hulten JA; Jansen EJ; Verkaik D; Veenstra-Knol HE; van Ravenswaaij-Arts CM; Wassink-Ruiter JS; Vincent M; David A; Le Caignec C; Schieving J; Gilissen C; Foulds N; Rump P; Strom T; Cremer K; Zink AM; Engels H; de Munnik SA; Visser JE; Brunner HG; Martens GJ; Pfundt R; Kleefstra T; Kolk SM
    Nat Genet; 2016 Aug; 48(8):877-87. PubMed ID: 27399968
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 4q35 deletion and 10p15 duplication associated with immunodeficiency.
    Cingoz S; Bisgaard AM; Bache I; Bryndorf T; Kirchoff M; Petersen W; Ropers HH; Maas N; Van Buggenhout G; Tommerup N; Tümer Z
    Am J Med Genet A; 2006 Oct; 140(20):2231-5. PubMed ID: 16964622
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Subtelomeric deletion of chromosome 10p15.3: clinical findings and molecular cytogenetic characterization.
    DeScipio C; Conlin L; Rosenfeld J; Tepperberg J; Pasion R; Patel A; McDonald MT; Aradhya S; Ho D; Goldstein J; McGuire M; Mulchandani S; Medne L; Rupps R; Serrano AH; Thorland EC; Tsai AC; Hilhorst-Hofstee Y; Ruivenkamp CA; Van Esch H; Addor MC; Martinet D; Mason TB; Clark D; Spinner NB; Krantz ID
    Am J Med Genet A; 2012 Sep; 158A(9):2152-61. PubMed ID: 22847950
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Molecular and clinical delineation of the 17q22 microdeletion phenotype.
    Laurell T; Lundin J; Anderlid BM; Gorski JL; Grigelioniene G; Knight SJ; Krepischi AC; Nordenskjöld A; Price SM; Rosenberg C; Turnpenny PD; Vianna-Morgante AM; Nordgren A
    Eur J Hum Genet; 2013 Oct; 21(10):1085-92. PubMed ID: 23361222
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Clinical delineation of an adult female patient with a rare interstitial 10q24.32q25.1 microdeletion.
    Jehee FS; Bouma T; Bouman A
    Clin Dysmorphol; 2021 Jul; 30(3):130-136. PubMed ID: 33560739
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Identification of a patient with intellectual disability and de novo 3.7 Mb deletion supports the existence of a novel microdeletion syndrome in 2p14-p15.
    Hancarova M; Vejvalkova S; Trkova M; Drabova J; Dleskova A; Vlckova M; Sedlacek Z
    Gene; 2013 Mar; 516(1):158-61. PubMed ID: 23266801
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype.
    Zollino M; Orteschi D; Murdolo M; Lattante S; Battaglia D; Stefanini C; Mercuri E; Chiurazzi P; Neri G; Marangi G
    Nat Genet; 2012 Apr; 44(6):636-8. PubMed ID: 22544367
    [TBL] [Abstract][Full Text] [Related]  

  • 19. New cases and refinement of the critical region in the 1q41q42 microdeletion syndrome.
    Rosenfeld JA; Lacassie Y; El-Khechen D; Escobar LF; Reggin J; Heuer C; Chen E; Jenkins LS; Collins AT; Zinner S; Babcock M; Morrow B; Schultz RA; Torchia BS; Ballif BC; Tsuchiya KD; Shaffer LG
    Eur J Med Genet; 2011; 54(1):42-9. PubMed ID: 20951845
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Brain malformations in a patient with deletion 2p16.1: A refinement of the phenotype to BCL11A.
    Balci TB; Sawyer SL; Davila J; Humphreys P; Dyment DA
    Eur J Med Genet; 2015; 58(6-7):351-4. PubMed ID: 25979662
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.