BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

233 related articles for article (PubMed ID: 25855803)

  • 1. Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis.
    Pagnamenta AT; Howard MF; Wisniewski E; Popitsch N; Knight SJ; Keays DA; Quaghebeur G; Cox H; Cox P; Balla T; Taylor JC; Kini U
    Hum Mol Genet; 2015 Jul; 24(13):3732-41. PubMed ID: 25855803
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5.
    Magen D; Ofir A; Berger L; Goldsher D; Eran A; Katib N; Nijem Y; Vlodavsky E; Tzur S; Behar DM; Fellig Y; Mandel H
    Hum Genet; 2015 Mar; 134(3):305-14. PubMed ID: 25560765
    [TBL] [Abstract][Full Text] [Related]  

  • 3. WDR73 missense mutation causes infantile onset intellectual disability and cerebellar hypoplasia in a consanguineous family.
    Jiang C; Gai N; Zou Y; Zheng Y; Ma R; Wei X; Liang D; Wu L
    Clin Chim Acta; 2017 Jan; 464():24-29. PubMed ID: 27983999
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A missense variant in ITPR1 provides evidence for autosomal recessive SCA29 with asymptomatic cerebellar hypoplasia in carriers.
    Klar J; Ali Z; Farooq M; Khan K; Wikström J; Iqbal M; Zulfiqar S; Faryal S; Baig SM; Dahl N
    Eur J Hum Genet; 2017 Jun; 25(7):848-853. PubMed ID: 28488678
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
    Sajan SA; Fernandez L; Nieh SE; Rider E; Bukshpun P; Wakahiro M; Christian SL; Rivière JB; Sullivan CT; Sudi J; Herriges MJ; Paciorkowski AR; Barkovich AJ; Glessner JT; Millen KJ; Hakonarson H; Dobyns WB; Sherr EH
    PLoS Genet; 2013; 9(10):e1003823. PubMed ID: 24098143
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Novel ATAD3A recessive mutation associated to fatal cerebellar hypoplasia with multiorgan involvement and mitochondrial structural abnormalities.
    Peralta S; González-Quintana A; Ybarra M; Delmiro A; Pérez-Pérez R; Docampo J; Arenas J; Blázquez A; Ugalde C; Martín MA
    Mol Genet Metab; 2019 Dec; 128(4):452-462. PubMed ID: 31727539
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Major brain malformations: corpus callosum dysgenesis, agenesis of septum pellucidum and polymicrogyria in patients with BCORL1-related disorders.
    Gafner M; Michelson M; Argilli E; Yosovich K; Sherr EH; Parks KC; England EM; Hady-Cohen R; Leibovitz Z; Lev D; Michaeli-Yosef Y; Lerman-Sagie T; Blumkin L
    J Hum Genet; 2022 Feb; 67(2):95-101. PubMed ID: 34400773
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Maternal mosaicism underlies the inheritance of a rare germline AKT3 variant which is responsible for megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome in two Roma half-siblings.
    Szalai R; Melegh BI; Till A; Ripszam R; Csabi G; Acharya A; Schrauwen I; Leal SM; Komoly S; Kosztolanyi G; Hadzsiev K
    Exp Mol Pathol; 2020 Aug; 115():104471. PubMed ID: 32446860
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Bi-allelic Variants in TKFC Encoding Triokinase/FMN Cyclase Are Associated with Cataracts and Multisystem Disease.
    Wortmann SB; Meunier B; Mestek-Boukhibar L; van den Broek F; Maldonado EM; Clement E; Weghuber D; Spenger J; Jaros Z; Taha F; Yue WW; Heales SJ; Davison JE; Mayr JA; Rahman S
    Am J Hum Genet; 2020 Feb; 106(2):256-263. PubMed ID: 32004446
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Severe neurodevelopmental disease caused by a homozygous TLK2 variant.
    Töpf A; Oktay Y; Balaraju S; Yilmaz E; Sonmezler E; Yis U; Laurie S; Thompson R; Roos A; MacArthur DG; Yaramis A; Güngör S; Lochmüller H; Hiz S; Horvath R
    Eur J Hum Genet; 2020 Mar; 28(3):383-387. PubMed ID: 31558842
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Reduced cell surface levels of GPI-linked markers in a new case with PIGG loss of function.
    Zhao JJ; Halvardson J; Knaus A; Georgii-Hemming P; Baeck P; Krawitz PM; Thuresson AC; Feuk L
    Hum Mutat; 2017 Oct; 38(10):1394-1401. PubMed ID: 28581210
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Two Novel Variants in
    Parmar JM; McNamara EL; Lamont PJ; Kumar KR; Rick A; Stoll M; Cheong PL; Ravenscroft G
    Neurol Genet; 2024 Jun; 10(3):e200152. PubMed ID: 38685974
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy.
    Verdura E; Rodríguez-Palmero A; Vélez-Santamaria V; Planas-Serra L; de la Calle I; Raspall-Chaure M; Roubertie A; Benkirane M; Saettini F; Pavinato L; Mandrile G; O'Leary M; O'Heir E; Barredo E; Chacón A; Michaud V; Goizet C; Ruiz M; Schlüter A; Rouvet I; Sala-Coromina J; Fossati C; Iascone M; Canonico F; Marcé-Grau A; de Souza P; Adams DR; Casasnovas C; Rehm HL; Mefford HC; González Gutierrez-Solana L; Brusco A; Koenig M; Macaya A; Pujol A
    Brain; 2021 Oct; 144(9):2659-2669. PubMed ID: 34415322
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Expanding the MYBPC1 phenotypic spectrum: a novel homozygous mutation causes arthrogryposis multiplex congenita.
    Ekhilevitch N; Kurolap A; Oz-Levi D; Mory A; Hershkovitz T; Ast G; Mandel H; Baris HN
    Clin Genet; 2016 Jul; 90(1):84-9. PubMed ID: 26661508
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria.
    Poirier K; Saillour Y; Fourniol F; Francis F; Souville I; Valence S; Desguerre I; Marie Lepage J; Boddaert N; Line Jacquemont M; Beldjord C; Chelly J; Bahi-Buisson N
    Eur J Hum Genet; 2013 Apr; 21(4):381-5. PubMed ID: 22948023
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Phenotypic and molecular insights into CASK-related disorders in males.
    Moog U; Bierhals T; Brand K; Bautsch J; Biskup S; Brune T; Denecke J; de Die-Smulders CE; Evers C; Hempel M; Henneke M; Yntema H; Menten B; Pietz J; Pfundt R; Schmidtke J; Steinemann D; Stumpel CT; Van Maldergem L; Kutsche K
    Orphanet J Rare Dis; 2015 Apr; 10():44. PubMed ID: 25886057
    [TBL] [Abstract][Full Text] [Related]  

  • 17. KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis.
    Gueneau L; Fish RJ; Shamseldin HE; Voisin N; Tran Mau-Them F; Preiksaitiene E; Monroe GR; Lai A; Putoux A; Allias F; Ambusaidi Q; Ambrozaityte L; Cimbalistienė L; Delafontaine J; Guex N; Hashem M; Kurdi W; Jamuar SS; Ying LJ; Bonnard C; Pippucci T; Pradervand S; Roechert B; van Hasselt PM; Wiederkehr M; Wright CF; ; Xenarios I; van Haaften G; Shaw-Smith C; Schindewolf EM; Neerman-Arbez M; Sanlaville D; Lesca G; Guibaud L; Reversade B; Chelly J; Kučinskas V; Alkuraya FS; Reymond A
    Am J Hum Genet; 2018 Jan; 102(1):116-132. PubMed ID: 29290337
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Exome sequencing identifies an MYH3 mutation in a family with distal arthrogryposis type 1.
    Alvarado DM; Buchan JG; Gurnett CA; Dobbs MB
    J Bone Joint Surg Am; 2011 Jun; 93(11):1045-50. PubMed ID: 21531865
    [TBL] [Abstract][Full Text] [Related]  

  • 19. The wide spectrum of tubulinopathies: what are the key features for the diagnosis?
    Bahi-Buisson N; Poirier K; Fourniol F; Saillour Y; Valence S; Lebrun N; Hully M; Bianco CF; Boddaert N; Elie C; Lascelles K; Souville I; ; Beldjord C; Chelly J
    Brain; 2014 Jun; 137(Pt 6):1676-700. PubMed ID: 24860126
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Novel genes bearing mutations in rare cases of early-onset ataxia with cerebellar hypoplasia.
    Protasova MS; Gusev FE; Andreeva TV; Klyushnikov SA; Illarioshkin SN; Rogaev EI
    Eur J Hum Genet; 2022 Jun; 30(6):703-711. PubMed ID: 35351988
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.