BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

300 related articles for article (PubMed ID: 22368300)

  • 1. Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects.
    Willemsen MH; Vissers LE; Willemsen MA; van Bon BW; Kroes T; de Ligt J; de Vries BB; Schoots J; Lugtenberg D; Hamel BC; van Bokhoven H; Brunner HG; Veltman JA; Kleefstra T
    J Med Genet; 2012 Mar; 49(3):179-83. PubMed ID: 22368300
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Two cases of DYNC1H1 mutations with intractable epilepsy.
    Matsumoto A; Kojima K; Miya F; Miyauchi A; Watanabe K; Iwamoto S; Kawai K; Kato M; Takahashi Y; Yamagata T
    Brain Dev; 2021 Sep; 43(8):857-862. PubMed ID: 34092403
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Novel mutations in the DYNC1H1 tail domain refine the genetic and clinical spectrum of dyneinopathies.
    Peeters K; Bervoets S; Chamova T; Litvinenko I; De Vriendt E; Bichev S; Kancheva D; Mitev V; Kennerson M; Timmerman V; De Jonghe P; Tournev I; MacMillan J; Jordanova A
    Hum Mutat; 2015 Mar; 36(3):287-91. PubMed ID: 25512093
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Novel dynein DYNC1H1 neck and motor domain mutations link distal spinal muscular atrophy and abnormal cortical development.
    Fiorillo C; Moro F; Yi J; Weil S; Brisca G; Astrea G; Severino M; Romano A; Battini R; Rossi A; Minetti C; Bruno C; Santorelli FM; Vallee R
    Hum Mutat; 2014 Mar; 35(3):298-302. PubMed ID: 24307404
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Exome Sequencing Identifies DYNC1H1 Variant Associated With Vertebral Abnormality and Spinal Muscular Atrophy With Lower Extremity Predominance.
    Punetha J; Monges S; Franchi ME; Hoffman EP; Cirak S; Tesi-Rocha C
    Pediatr Neurol; 2015 Feb; 52(2):239-44. PubMed ID: 25484024
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1.
    Strickland AV; Schabhüttl M; Offenbacher H; Synofzik M; Hauser NS; Brunner-Krainz M; Gruber-Sedlmayr U; Moore SA; Windhager R; Bender B; Harms M; Klebe S; Young P; Kennerson M; Garcia AS; Gonzalez MA; Züchner S; Schule R; Shy ME; Auer-Grumbach M
    J Neurol; 2015 Sep; 262(9):2124-34. PubMed ID: 26100331
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Exome Sequencing Identifies De Novo DYNC1H1 Mutations Associated With Distal Spinal Muscular Atrophy and Malformations of Cortical Development.
    Chen Y; Xu Y; Li G; Li N; Yu T; Yao RE; Wang X; Shen Y; Wang J
    J Child Neurol; 2017 Mar; 32(4):379-386. PubMed ID: 28193117
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease.
    Weedon MN; Hastings R; Caswell R; Xie W; Paszkiewicz K; Antoniadi T; Williams M; King C; Greenhalgh L; Newbury-Ecob R; Ellard S
    Am J Hum Genet; 2011 Aug; 89(2):308-12. PubMed ID: 21820100
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression.
    Zweier M; Gregor A; Zweier C; Engels H; Sticht H; Wohlleber E; Bijlsma EK; Holder SE; Zenker M; Rossier E; Grasshoff U; Johnson DS; Robertson L; Firth HV; ; Ekici AB; Reis A; Rauch A
    Hum Mutat; 2010 Jun; 31(6):722-33. PubMed ID: 20513142
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy.
    Harms MB; Ori-McKenney KM; Scoto M; Tuck EP; Bell S; Ma D; Masi S; Allred P; Al-Lozi M; Reilly MM; Miller LJ; Jani-Acsadi A; Pestronk A; Shy ME; Muntoni F; Vallee RB; Baloh RH
    Neurology; 2012 May; 78(22):1714-20. PubMed ID: 22459677
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Lissencephaly and LIS1: insights into the molecular mechanisms of neuronal migration and development.
    Wynshaw-Boris A
    Clin Genet; 2007 Oct; 72(4):296-304. PubMed ID: 17850624
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency.
    Berryer MH; Hamdan FF; Klitten LL; Møller RS; Carmant L; Schwartzentruber J; Patry L; Dobrzeniecka S; Rochefort D; Neugnot-Cerioli M; Lacaille JC; Niu Z; Eng CM; Yang Y; Palardy S; Belhumeur C; Rouleau GA; Tommerup N; Immken L; Beauchamp MH; Patel GS; Majewski J; Tarnopolsky MA; Scheffzek K; Hjalgrim H; Michaud JL; Di Cristo G
    Hum Mutat; 2013 Feb; 34(2):385-94. PubMed ID: 23161826
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Genotype-phenotype correlations in Charcot-Marie-Tooth disease type 2 caused by mitofusin 2 mutations.
    Calvo J; Funalot B; Ouvrier RA; Lazaro L; Toutain A; De Mas P; Bouche P; Gilbert-Dussardier B; Arne-Bes MC; Carrière JP; Journel H; Minot-Myhie MC; Guillou C; Ghorab K; Magy L; Sturtz F; Vallat JM; Magdelaine C
    Arch Neurol; 2009 Dec; 66(12):1511-6. PubMed ID: 20008656
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Exome sequencing identifies a de novo SCN2A mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities.
    Baasch AL; Hüning I; Gilissen C; Klepper J; Veltman JA; Gillessen-Kaesbach G; Hoischen A; Lohmann K
    Epilepsia; 2014 Apr; 55(4):e25-9. PubMed ID: 24579881
    [TBL] [Abstract][Full Text] [Related]  

  • 15. The clinical-phenotype continuum in DYNC1H1-related disorders-genomic profiling and proposal for a novel classification.
    Becker LL; Dafsari HS; Schallner J; Abdin D; Seifert M; Petit F; Smol T; Bok L; Rodan L; Krapels I; Spranger S; Weschke B; Johnson K; Straub V; Kaindl AM; Di Donato N; von der Hagen M; Cirak S
    J Hum Genet; 2020 Nov; 65(11):1003-1017. PubMed ID: 32788638
    [TBL] [Abstract][Full Text] [Related]  

  • 16. De novo DYNC1H1 mutation causes infantile developmental and epileptic encephalopathy with brain malformations.
    Su T; Yan Y; Hu Q; Liu Y; Xu S
    Mol Genet Genomic Med; 2022 Mar; 10(3):e1874. PubMed ID: 35099838
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Whole-exome sequencing identifies a novel de novo variant in DYNC1H in a patient with intractable epilepsy.
    Ji C; Wu D; Wang K
    Neurol Sci; 2022 Apr; 43(4):2853-2858. PubMed ID: 35088241
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A missense mutation in DYNC1H1 gene causing spinal muscular atrophy - Lower extremity, dominant.
    Das J; Lilleker JB; Jabbal K; Ealing J
    Neurol Neurochir Pol; 2018 Mar; 52(2):293-297. PubMed ID: 29306600
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. Location and type of mutation in the LIS1 gene do not predict phenotypic severity.
    Uyanik G; Morris-Rosendahl DJ; Stiegler J; Klapecki J; Gross C; Berman Y; Martin P; Dey L; Spranger S; Korenke GC; Schreyer I; Hertzberg C; Neumann TE; Burkart P; Spaich C; Meng M; Holthausen H; Adès L; Seidel J; Mangold E; Buyse G; Meinecke P; Schara U; Zeschnigk C; Muller D; Helland G; Schulze B; Wright ML; Kortge-Jung S; Hehr A; Bogdahn U; Schuierer G; Kohlhase J; Aigner L; Wolff G; Hehr U; Winkler J
    Neurology; 2007 Jul; 69(5):442-7. PubMed ID: 17664403
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 15.