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 *

252 related articles for article (PubMed ID: 29064093)

  • 41. A novel PCDH19 mutation inherited from an unaffected mother.
    Dimova PS; Kirov A; Todorova A; Todorov T; Mitev V
    Pediatr Neurol; 2012 Jun; 46(6):397-400. PubMed ID: 22633638
    [TBL] [Abstract][Full Text] [Related]  

  • 42. Novel de novo PCDH19 mutations in three unrelated females with epilepsy female restricted mental retardation syndrome.
    Jamal SM; Basran RK; Newton S; Wang Z; Milunsky JM
    Am J Med Genet A; 2010 Oct; 152A(10):2475-81. PubMed ID: 20830798
    [TBL] [Abstract][Full Text] [Related]  

  • 43. STXBP1 germline mutation and focal cortical dysplasia.
    Sharkov A; Dulac O; Gataullina S
    Epileptic Disord; 2021 Feb; 23(1):143-147. PubMed ID: 33632674
    [TBL] [Abstract][Full Text] [Related]  

  • 44. [Clinical and genetic characteristics of epilepsy caused by mutations in the PCDH19 gene (OMIM: 300088)].
    Dadali EL; Mishina IA; Borovikov AO; Sharkov AA; Kanivets IV
    Zh Nevrol Psikhiatr Im S S Korsakova; 2020; 120(1):55-61. PubMed ID: 32105270
    [TBL] [Abstract][Full Text] [Related]  

  • 45. Two novel PCDH19 mutations in Russian patients with epilepsy with intellectual disability limited to females: a case report.
    Kozina AA; Okuneva EG; Baryshnikova NV; Fedonyuk ID; Kholin AA; Il'ina ES; Krasnenko AY; Stetsenko IF; Plotnikov NA; Klimchuk OI; Surkova EI; Ilinsky VV
    BMC Med Genet; 2020 Oct; 21(1):209. PubMed ID: 33087045
    [TBL] [Abstract][Full Text] [Related]  

  • 46. Schizophrenia is a later-onset feature of PCDH19 Girls Clustering Epilepsy.
    Vlaskamp DRM; Bassett AS; Sullivan JE; Robblee J; Sadleir LG; Scheffer IE; Andrade DM
    Epilepsia; 2019 Mar; 60(3):429-440. PubMed ID: 30828795
    [TBL] [Abstract][Full Text] [Related]  

  • 47. Identification of four novel PCDH19 Mutations and prediction of their functional impact.
    Leonardi E; Sartori S; Vecchi M; Bettella E; Polli R; Palma LD; Boniver C; Murgia A
    Ann Hum Genet; 2014 Nov; 78(6):389-98. PubMed ID: 25227595
    [TBL] [Abstract][Full Text] [Related]  

  • 48. PCDH19-related epilepsy in a male with Klinefelter syndrome: Additional evidence supporting PCDH19 cellular interference disease mechanism.
    Romasko EJ; DeChene ET; Balciuniene J; Akgumus GT; Helbig I; Tarpinian JM; Keena BA; Vogiatzi MG; Zackai EH; Izumi K; Massey SL; Tayoun ANA
    Epilepsy Res; 2018 Sep; 145():89-92. PubMed ID: 29933145
    [TBL] [Abstract][Full Text] [Related]  

  • 49. Spectrum of phenotypes in female patients with epilepsy due to protocadherin 19 mutations.
    Specchio N; Marini C; Terracciano A; Mei D; Trivisano M; Sicca F; Fusco L; Cusmai R; Darra F; Bernardina BD; Bertini E; Guerrini R; Vigevano F
    Epilepsia; 2011 Jul; 52(7):1251-7. PubMed ID: 21480887
    [TBL] [Abstract][Full Text] [Related]  

  • 50. Protocadherin 19 mutations in girls with infantile-onset epilepsy.
    Marini C; Mei D; Parmeggiani L; Norci V; Calado E; Ferrari A; Moreira A; Pisano T; Specchio N; Vigevano F; Battaglia D; Guerrini R
    Neurology; 2010 Aug; 75(7):646-53. PubMed ID: 20713952
    [TBL] [Abstract][Full Text] [Related]  

  • 51. Structural determinants of adhesion by Protocadherin-19 and implications for its role in epilepsy.
    Cooper SR; Jontes JD; Sotomayor M
    Elife; 2016 Oct; 5():. PubMed ID: 27787195
    [TBL] [Abstract][Full Text] [Related]  

  • 52. Malformations of cortical development and epilepsy: A cohort of 150 patients in western China.
    Liu W; An D; Xiao J; Li J; Hao N; Zhou D
    Seizure; 2015 Nov; 32():92-9. PubMed ID: 26552571
    [TBL] [Abstract][Full Text] [Related]  

  • 53. Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females.
    Depienne C; Trouillard O; Bouteiller D; Gourfinkel-An I; Poirier K; Rivier F; Berquin P; Nabbout R; Chaigne D; Steschenko D; Gautier A; Hoffman-Zacharska D; Lannuzel A; Lackmy-Port-Lis M; Maurey H; Dusser A; Bru M; Gilbert-Dussardier B; Roubertie A; Kaminska A; Whalen S; Mignot C; Baulac S; Lesca G; Arzimanoglou A; LeGuern E
    Hum Mutat; 2011 Jan; 32(1):E1959-75. PubMed ID: 21053371
    [TBL] [Abstract][Full Text] [Related]  

  • 54. Case report of a novel PCDH19 frameshift mutation in a girl with epilepsy and mental retardation limited to females.
    Zhang X; Chen N; Ma A; Wang X; Sun W; Gao Y
    Medicine (Baltimore); 2018 Dec; 97(51):e13749. PubMed ID: 30572518
    [TBL] [Abstract][Full Text] [Related]  

  • 55. The Role of Protocadherin 19 (PCDH19) in Neurodevelopment and in the Pathophysiology of Early Infantile Epileptic Encephalopathy-9 (EIEE9).
    Gerosa L; Francolini M; Bassani S; Passafaro M
    Dev Neurobiol; 2019 Jan; 79(1):75-84. PubMed ID: 30431232
    [TBL] [Abstract][Full Text] [Related]  

  • 56. Epilepsy prevalence and severity predictors in MRI-identified focal cortical dysplasia.
    Maynard LM; Leach JL; Horn PS; Spaeth CG; Mangano FT; Holland KD; Miles L; Faist R; Greiner HM
    Epilepsy Res; 2017 May; 132():41-49. PubMed ID: 28288357
    [TBL] [Abstract][Full Text] [Related]  

  • 57. Integrated in silico and experimental assessment of disease relevance of PCDH19 missense variants.
    Pham DH; Pitman MR; Kumar R; Jolly LA; Schulz R; Gardner AE; de Nys R; Heron SE; Corbett MA; Kothur K; Gill D; Rajagopalan S; Kolc KL; Halliday BJ; Robertson SP; Regan BM; Kirsch HE; Berkovic SF; Scheffer IE; Pitson SM; Petrovski S; Gecz J
    Hum Mutat; 2021 Aug; 42(8):1030-1041. PubMed ID: 34082468
    [TBL] [Abstract][Full Text] [Related]  

  • 58. Recurrence risk of epilepsy and mental retardation in females due to parental mosaicism of PCDH19 mutations.
    Dibbens LM; Kneen R; Bayly MA; Heron SE; Arsov T; Damiano JA; Desai T; Gibbs J; McKenzie F; Mulley JC; Ronan A; Scheffer IE
    Neurology; 2011 Apr; 76(17):1514-9. PubMed ID: 21519002
    [TBL] [Abstract][Full Text] [Related]  

  • 59. Levetiracetam efficacy in PCDH19 Girls Clustering Epilepsy.
    Sadleir LG; Kolc KL; King C; Mefford HC; Dale RC; Gecz J; Scheffer IE
    Eur J Paediatr Neurol; 2020 Jan; 24():142-147. PubMed ID: 31928905
    [TBL] [Abstract][Full Text] [Related]  

  • 60. Febrile infection-related epilepsy syndrome (FIRES) is not caused by SCN1A, POLG, PCDH19 mutations or rare copy number variations.
    Appenzeller S; Helbig I; Stephani U; Häusler M; Kluger G; Bungeroth M; Müller S; Kuhlenbäumer G; van Baalen A
    Dev Med Child Neurol; 2012 Dec; 54(12):1144-8. PubMed ID: 23066759
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 13.