These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

127 related articles for article (PubMed ID: 37269665)

  • 1. Generation of an induced pluripotent stem cell line (ZSZOCi001-A) from a patient with Knobloch syndrome caused by biallelic mutations in the gene COL18A1.
    Jiang Z; Sun W; Zhang Q; Wang P
    Stem Cell Res; 2023 Aug; 70():103131. PubMed ID: 37269665
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Knobloch Syndrome Associated with Novel
    Li S; Wang Y; Sun L; Yan W; Huang L; Zhang Z; Zhang T; Ding X
    Genes (Basel); 2021 Sep; 12(10):. PubMed ID: 34680907
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Knobloch syndrome in a patient from Chile.
    Nakousi-Capurro N; Huserman J; Castillo S; Herrera L; Romero P; Pizarro F; Quezada C; Cea F
    Am J Med Genet A; 2020 Oct; 182(10):2239-2242. PubMed ID: 32700429
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin.
    Menzel O; Bekkeheien RC; Reymond A; Fukai N; Boye E; Kosztolanyi G; Aftimos S; Deutsch S; Scott HS; Olsen BR; Antonarakis SE; Guipponi M
    Hum Mutat; 2004 Jan; 23(1):77-84. PubMed ID: 14695535
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A phenotypic variant of Knobloch syndrome.
    Williams TA; Kirkby GR; Williams D; Ainsworth JR
    Ophthalmic Genet; 2008 Jun; 29(2):85-6. PubMed ID: 18484314
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Brain malformations associated with Knobloch syndrome--review of literature, expanding clinical spectrum, and identification of novel mutations.
    Caglayan AO; Baranoski JF; Aktar F; Han W; Tuysuz B; Guzel A; Guclu B; Kaymakcalan H; Aktekin B; Akgumus GT; Murray PB; Erson-Omay EZ; Caglar C; Bakircioglu M; Sakalar YB; Guzel E; Demir N; Tuncer O; Senturk S; Ekici B; Minja FJ; Šestan N; Yasuno K; Bilguvar K; Caksen H; Gunel M
    Pediatr Neurol; 2014 Dec; 51(6):806-813.e8. PubMed ID: 25456301
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Three cases of molecularly confirmed Knobloch syndrome.
    Balikova I; Sanak NS; Fanny D; Smits G; Soblet J; de Baere E; Cordonnier M
    Ophthalmic Genet; 2020 Feb; 41(1):83-87. PubMed ID: 32178553
    [No Abstract]   [Full Text] [Related]  

  • 8. Collagen XVIII mutation in Knobloch syndrome with acute lymphoblastic leukemia.
    Mahajan VB; Olney AH; Garrett P; Chary A; Dragan E; Lerner G; Murray J; Bassuk AG
    Am J Med Genet A; 2010 Nov; 152A(11):2875-9. PubMed ID: 20799329
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Mutations in the COL18A1 gen associated with knobloch syndrome and structural brain anomalies: a novel case report and literature review of neuroimaging findings.
    Irene Díez García-Prieto I; Lopez-Martín S; Albert J; Jiménez de la Peña M; Fernández-Mayoralas DM; Calleja-Pérez B; Gómez Fernández MT; Álvarez S; Pihlajaniemi T; Izzi V; Fernández-Jaén A
    Neurocase; 2022 Feb; 28(1):11-18. PubMed ID: 35253627
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Variable phenotype of Knobloch syndrome due to biallelic
    Levinger N; Hendler K; Banin E; Hanany M; Kimchi A; Mechoulam H; Meiner V; Parag Y; Sharon D; Macarov M; Yahalom C
    Eur J Ophthalmol; 2021 Nov; 31(6):3349-3354. PubMed ID: 33238767
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Familial epilepsy with anterior polymicrogyria as a presentation of COL18A1 mutations.
    Corbett MA; Turner SJ; Gardner A; Silver J; Stankovich J; Leventer RJ; Derry CP; Carroll R; Ha T; Scheffer IE; Bahlo M; Jackson GD; Mackey DA; Berkovic SF; Gecz J
    Eur J Med Genet; 2017 Aug; 60(8):437-443. PubMed ID: 28602933
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Molecular and Clinical Findings in Patients With Knobloch Syndrome.
    Hull S; Arno G; Ku CA; Ge Z; Waseem N; Chandra A; Webster AR; Robson AG; Michaelides M; Weleber RG; Davagnanam I; Chen R; Holder GE; Pennesi ME; Moore AT
    JAMA Ophthalmol; 2016 Jul; 134(7):753-62. PubMed ID: 27259167
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Molecular analysis of collagen XVIII reveals novel mutations, presence of a third isoform, and possible genetic heterogeneity in Knobloch syndrome.
    Suzuki OT; Sertié AL; Der Kaloustian VM; Kok F; Carpenter M; Murray J; Czeizel AE; Kliemann SE; Rosemberg S; Monteiro M; Olsen BR; Passos-Bueno MR
    Am J Hum Genet; 2002 Dec; 71(6):1320-9. PubMed ID: 12415512
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Two patients with Knobloch syndrome due to mutation in COL8A1 gene: case report and review of the literature.
    Ogreden TA; Erdoğan G
    BMC Ophthalmol; 2024 Apr; 24(1):149. PubMed ID: 38575892
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Mapping of a novel type III variant of Knobloch syndrome (KNO3) to chromosome 17q11.2.
    Khaliq S; Abid A; White DR; Johnson CA; Ismail M; Khan A; Ayub Q; Sultana S; Maher ER; Mehdi SQ
    Am J Med Genet A; 2007 Dec; 143A(23):2768-74. PubMed ID: 17975799
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Whole genome sequencing in a Knobloch syndrome family confirms the molecular diagnosis.
    Patel CK; Broadgate S; Shalaby A; Yu J; Nemeth AH; Downes SM; Halford S
    Ophthalmic Genet; 2022 Apr; 43(2):201-209. PubMed ID: 34751625
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Establishment of the induced pluripotent stem cell line (NCKDi005-A) from a male patient with Alport syndrome carrying a homozygous frameshift mutation in the COL4A4 gene.
    Wang G; Gao E; Wu H; Zhang L; Zhu Y; Zhang J; Liu Z
    Stem Cell Res; 2022 Jan; 58():102628. PubMed ID: 34942480
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Novel pathogenic mutations and skin biopsy analysis in Knobloch syndrome.
    Suzuki O; Kague E; Bagatini K; Tu H; Heljasvaara R; Carvalhaes L; Gava E; de Oliveira G; Godoi P; Oliva G; Kitten G; Pihlajaniemi T; Passos-Bueno MR
    Mol Vis; 2009; 15():801-9. PubMed ID: 19390655
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Case Report: Novel Biallelic Variants in the
    Chong SC; Yuen YP; Cao Y; Fan SS; Leung TY; Chan EKY; Zhu XL
    Front Neurol; 2022; 13():853918. PubMed ID: 35693012
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Identification of ADAMTS18 as a gene mutated in Knobloch syndrome.
    Aldahmesh MA; Khan AO; Mohamed JY; Alkuraya H; Ahmed H; Bobis S; Al-Mesfer S; Alkuraya FS
    J Med Genet; 2011 Sep; 48(9):597-601. PubMed ID: 21862674
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.