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 *

359 related articles for article (PubMed ID: 19752159)

  • 1. Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families.
    Hynes K; Tarpey P; Dibbens LM; Bayly MA; Berkovic SF; Smith R; Raisi ZA; Turner SJ; Brown NJ; Desai TD; Haan E; Turner G; Christodoulou J; Leonard H; Gill D; Stratton MR; Gecz J; Scheffer IE
    J Med Genet; 2010 Mar; 47(3):211-6. PubMed ID: 19752159
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. PCDH19-related infantile epileptic encephalopathy: an unusual X-linked inheritance disorder.
    Depienne C; LeGuern E
    Hum Mutat; 2012 Apr; 33(4):627-34. PubMed ID: 22267240
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Clinical and genetic aspects of PCDH19-related epilepsy syndromes and the possible role of PCDH19 mutations in males with autism spectrum disorders.
    van Harssel JJ; Weckhuysen S; van Kempen MJ; Hardies K; Verbeek NE; de Kovel CG; Gunning WB; van Daalen E; de Jonge MV; Jansen AC; Vermeulen RJ; Arts WF; Verhelst H; Fogarasi A; de Rijk-van Andel JF; Kelemen A; Lindhout D; De Jonghe P; Koeleman BP; Suls A; Brilstra EH
    Neurogenetics; 2013 Feb; 14(1):23-34. PubMed ID: 23334464
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Epilepsy and mental retardation limited to females: an under-recognized disorder.
    Scheffer IE; Turner SJ; Dibbens LM; Bayly MA; Friend K; Hodgson B; Burrows L; Shaw M; Wei C; Ullmann R; Ropers HH; Szepetowski P; Haan E; Mazarib A; Afawi Z; Neufeld MY; Andrews PI; Wallace G; Kivity S; Lev D; Lerman-Sagie T; Derry CP; Korczyn AD; Gecz J; Mulley JC; Berkovic SF
    Brain; 2008 Apr; 131(Pt 4):918-27. PubMed ID: 18234694
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. Identification of genomic deletions spanning the PCDH19 gene in two unrelated girls with intellectual disability and seizures.
    Vincent AK; Noor A; Janson A; Minassian BA; Ayub M; Vincent JB; Morel CF
    Clin Genet; 2012 Dec; 82(6):540-5. PubMed ID: 22091964
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Chinese cases of early infantile epileptic encephalopathy: a novel mutation in the PCDH19 gene was proved in a mosaic male- case report.
    Tan Y; Hou M; Ma S; Liu P; Xia S; Wang Y; Chen L; Chen Z
    BMC Med Genet; 2018 Jun; 19(1):92. PubMed ID: 29866057
    [TBL] [Abstract][Full Text] [Related]  

  • 9. PCDH19 mutations in female patients from Southern Italy.
    Gagliardi M; Annesi G; Sesta M; Tarantino P; Conti P; Labate A; Di Rosa G; Quattrone A; Gambardella A
    Seizure; 2015 Jan; 24():118-20. PubMed ID: 25218114
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Cognitive and behavioral profile in females with epilepsy with PDCH19 mutation: two novel mutations and review of the literature.
    Camacho A; Simón R; Sanz R; Viñuela A; Martínez-Salio A; Mateos F
    Epilepsy Behav; 2012 May; 24(1):134-7. PubMed ID: 22504056
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A novel PCDH19 missense mutation, c.812G>A (p.Gly271Asp), identified using whole-exome sequencing in a Chinese family with epilepsy female restricted mental retardation syndrome.
    Zhao X; Wang Y; Mei S; Kong X
    Mol Genet Genomic Med; 2020 Jun; 8(6):e1234. PubMed ID: 32314541
    [TBL] [Abstract][Full Text] [Related]  

  • 12. [PCDH19 gene mutations lead to epilepsy with mental retardation limited to females in 2 cases and literature review].
    Yang L; Arafat A; Peng J; Chen C; Ma Y; Yin F
    Zhong Nan Da Xue Xue Bao Yi Xue Ban; 2017 Jun; 42(6):730-736. PubMed ID: 28690234
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Focal seizures with affective symptoms are a major feature of PCDH19 gene-related epilepsy.
    Marini C; Darra F; Specchio N; Mei D; Terracciano A; Parmeggiani L; Ferrari A; Sicca F; Mastrangelo M; Spaccini L; Canopoli ML; Cesaroni E; Zamponi N; Caffi L; Ricciardelli P; Grosso S; Pisano T; Canevini MP; Granata T; Accorsi P; Battaglia D; Cusmai R; Vigevano F; Dalla Bernardina B; Guerrini R
    Epilepsia; 2012 Dec; 53(12):2111-9. PubMed ID: 22946748
    [TBL] [Abstract][Full Text] [Related]  

  • 15. PCDH19-related female-limited epilepsy: further details regarding early clinical features and therapeutic efficacy.
    Higurashi N; Nakamura M; Sugai M; Ohfu M; Sakauchi M; Sugawara Y; Nakamura K; Kato M; Usui D; Mogami Y; Fujiwara Y; Ito T; Ikeda H; Imai K; Takahashi Y; Nukui M; Inoue T; Okazaki S; Kirino T; Tomonoh Y; Inoue T; Takano K; Shimakawa S; Hirose S
    Epilepsy Res; 2013 Sep; 106(1-2):191-9. PubMed ID: 23712037
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Epilepsy and mental retardation limited to females: an X-linked dominant disorder with male sparing.
    Ryan SG; Chance PF; Zou CH; Spinner NB; Golden JA; Smietana S
    Nat Genet; 1997 Sep; 17(1):92-5. PubMed ID: 9288105
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. The clinical spectrum of female epilepsy patients with PCDH19 mutations in a Chinese population.
    Liu A; Xu X; Yang X; Jiang Y; Yang Z; Liu X; Wu Y; Wu X; Wei L; Zhang Y
    Clin Genet; 2017 Jan; 91(1):54-62. PubMed ID: 27527380
    [TBL] [Abstract][Full Text] [Related]  

  • 19. X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment.
    Dibbens LM; Tarpey PS; Hynes K; Bayly MA; Scheffer IE; Smith R; Bomar J; Sutton E; Vandeleur L; Shoubridge C; Edkins S; Turner SJ; Stevens C; O'Meara S; Tofts C; Barthorpe S; Buck G; Cole J; Halliday K; Jones D; Lee R; Madison M; Mironenko T; Varian J; West S; Widaa S; Wray P; Teague J; Dicks E; Butler A; Menzies A; Jenkinson A; Shepherd R; Gusella JF; Afawi Z; Mazarib A; Neufeld MY; Kivity S; Lev D; Lerman-Sagie T; Korczyn AD; Derry CP; Sutherland GR; Friend K; Shaw M; Corbett M; Kim HG; Geschwind DH; Thomas P; Haan E; Ryan S; McKee S; Berkovic SF; Futreal PA; Stratton MR; Mulley JC; Gécz J
    Nat Genet; 2008 Jun; 40(6):776-81. PubMed ID: 18469813
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 18.