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 *

123 related articles for article (PubMed ID: 33577044)

  • 21. Epileptogenic brain malformations: clinical presentation, malformative patterns and indications for genetic testing.
    Guerrini R; Carrozzo R
    Seizure; 2002 Apr; 11 Suppl A():532-43; quiz 544-7. PubMed ID: 12185771
    [TBL] [Abstract][Full Text] [Related]  

  • 22. PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia.
    Jansen LA; Mirzaa GM; Ishak GE; O'Roak BJ; Hiatt JB; Roden WH; Gunter SA; Christian SL; Collins S; Adams C; Rivière JB; St-Onge J; Ojemann JG; Shendure J; Hevner RF; Dobyns WB
    Brain; 2015 Jun; 138(Pt 6):1613-28. PubMed ID: 25722288
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Clinical features of cerebral cavernous malformations patients with KRIT1 mutations.
    Denier C; Labauge P; Brunereau L; Cavé-Riant F; Marchelli F; Arnoult M; Cecillon M; Maciazek J; Joutel A; Tournier-Lasserve E; ;
    Ann Neurol; 2004 Feb; 55(2):213-20. PubMed ID: 14755725
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Schizencephaly in LEOPARD syndrome.
    Liang JS; Chien YH; Hwu WL; Yeh SJ; Peng SF
    Pediatr Neurol; 2009 Jul; 41(1):71-3. PubMed ID: 19520282
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Venous Tortuosity in
    Oh JK; Levi SR; de Carvalho JRL; Abdelhakim AH; Hirano M; Maumenee IH; Tsang SH
    Ophthalmic Surg Lasers Imaging Retina; 2023 Sep; 54(9):536-539. PubMed ID: 37642429
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Novel COL4A2 variant in a large pedigree: Consequences and dilemmas.
    McGovern M; Flanagan O; Lynch B; Lynch SA; Allen NM
    Clin Genet; 2017 Oct; 92(4):447-448. PubMed ID: 28542708
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Progressive cerebral atrophies in three children with COL4A1 mutations.
    Nakamura Y; Okanishi T; Yamada H; Okazaki T; Hosoda C; Itai T; Miyatake S; Saitsu H; Matsumoto N; Maegaki Y
    Brain Dev; 2021 Nov; 43(10):1033-1038. PubMed ID: 34281745
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Genetic malformations of the cerebral cortex and epilepsy.
    Guerrini R
    Epilepsia; 2005; 46 Suppl 1():32-7. PubMed ID: 15816977
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Focal polymicrogyria are associated with submicroscopic chromosomal rearrangements detected by CGH microarray analysis.
    Quelin C; Saillour Y; Poirier K; Roubertie A; Boddaert N; Desguerre I; Letourneur F; Beldjord C; Chelly J; Bahi-Buisson N
    Eur J Med Genet; 2012 Oct; 55(10):527-30. PubMed ID: 22766001
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Identification of a c.601C>G mutation in the CCM1 gene in a kindred with multiple skin, spinal and cerebral cavernous malformations.
    Haghighi A; Fathi D; Shahbazi M; Motahari MM; Friedman B
    J Neurol Sci; 2013 Nov; 334(1-2):97-101. PubMed ID: 24007869
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Novel CCM1 (KRIT1) Mutation Detection in Brazilian Familial Cerebral Cavernous Malformation: Different Genetic Variants in Inflammation, Oxidative Stress, and Drug Metabolism Genes Affect Disease Aggressiveness.
    Fontes-Dantas FL; da Fontoura Galvão G; Veloso da Silva E; Alves-Leon S; Cecília da Silva Rêgo C; Garcia DG; Marques SA; Blanco Martinez AM; Reis da Silva M; Marcondes de Souza J
    World Neurosurg; 2020 Jun; 138():535-540.e8. PubMed ID: 32113992
    [TBL] [Abstract][Full Text] [Related]  

  • 32. [Epileptogenic brain malformations: radiological and clinical presentation and indications for genetic testing].
    Bahi-Buisson N; Boddaert N; Saillour Y; Souville I; Poirier K; Léger PL; Castelnau L; Plouin P; Carion N; Beldjord C; Chelly J
    Rev Neurol (Paris); 2008 Dec; 164(12):995-1009. PubMed ID: 18808783
    [TBL] [Abstract][Full Text] [Related]  

  • 33. A novel mutation in the β-tubulin gene TUBB2B associated with complex malformation of cortical development and deficits in axonal guidance.
    Romaniello R; Tonelli A; Arrigoni F; Baschirotto C; Triulzi F; Bresolin N; Bassi MT; Borgatti R
    Dev Med Child Neurol; 2012 Aug; 54(8):765-9. PubMed ID: 22591407
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Hereditary hemorrhagic telangiectasia associated with cortical development malformation due to a start loss mutation in ENG.
    Villa D; Cinnante C; Valcamonica G; Manenti G; Lanfranconi S; Colombi A; Ghione I; Saetti MC; D'Amico M; Bonato S; Bresolin N; Comi GP; Ronchi D
    BMC Neurol; 2020 Aug; 20(1):316. PubMed ID: 32847536
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Childhood-Onset Epileptic Encephalopathy Associated With Isolated Focal Cortical Dysplasia and a Novel TSC1 Germline Mutation.
    Hoelz H; Coppenrath E; Hoertnagel K; Roser T; Tacke M; Gerstl L; Borggraefe I
    Clin EEG Neurosci; 2018 May; 49(3):187-191. PubMed ID: 28762286
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Do mutations in COL4A1 or COL4A2 cause thin basement membrane nephropathy (TBMN)?
    Zhang KW; Tonna S; Wang YY; Rana K; Padavarat S; Savige J
    Pediatr Nephrol; 2007 May; 22(5):645-51. PubMed ID: 17216253
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Familial focal epilepsy with focal cortical dysplasia due to DEPDC5 mutations.
    Baulac S; Ishida S; Marsan E; Miquel C; Biraben A; Nguyen DK; Nordli D; Cossette P; Nguyen S; Lambrecq V; Vlaicu M; Daniau M; Bielle F; Andermann E; Andermann F; Leguern E; Chassoux F; Picard F
    Ann Neurol; 2015 Apr; 77(4):675-83. PubMed ID: 25623524
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Mutations of KIF5C cause a neurodevelopmental disorder of infantile-onset epilepsy, absent language, and distinctive malformations of cortical development.
    Michels S; Foss K; Park K; Golden-Grant K; Saneto R; Lopez J; Mirzaa GM
    Am J Med Genet A; 2017 Dec; 173(12):3127-3131. PubMed ID: 29048727
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Tuberous sclerosis complex with a single brain lesion on MRI mimicking focal cortical dysplasia.
    Hirfanoglu T; Gupta A
    Pediatr Neurol; 2010 May; 42(5):343-7. PubMed ID: 20399389
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Focal cortical malformations can show asymmetrically higher uptake on interictal fluorine-18 fluorodeoxyglucose positron emission tomography (PET).
    Poduri A; Golja A; Takeoka M; Bourgeois BF; Connolly L; Riviello JJ
    J Child Neurol; 2007 Feb; 22(2):232-7. PubMed ID: 17621491
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 7.