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 *

233 related articles for article (PubMed ID: 24259288)

  • 1. A novel germline PIGA mutation in Ferro-Cerebro-Cutaneous syndrome: a neurodegenerative X-linked epileptic encephalopathy with systemic iron-overload.
    Swoboda KJ; Margraf RL; Carey JC; Zhou H; Newcomb TM; Coonrod E; Durtschi J; Mallempati K; Kumanovics A; Katz BE; Voelkerding KV; Opitz JM
    Am J Med Genet A; 2014 Jan; 164A(1):17-28. PubMed ID: 24259288
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2.
    Fauth C; Steindl K; Toutain A; Farrell S; Witsch-Baumgartner M; Karall D; Joset P; Böhm S; Baumer A; Maier O; Zschocke J; Weksberg R; Marshall CR; Rauch A
    Am J Med Genet A; 2016 Feb; 170A(2):392-402. PubMed ID: 26545172
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Invited editorial comment--The human phenotype of germline PIGA mutations.
    Biesecker LG
    Am J Med Genet A; 2014 Jan; 164A(1):15-6. PubMed ID: 24273085
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.
    Yang J; Wang Q; Zhuo Q; Tian H; Li W; Luo F; Zhang J; Bi D; Peng J; Zhou D; Xin H
    Mol Genet Genomic Med; 2018 Sep; 6(5):739-748. PubMed ID: 29974678
    [TBL] [Abstract][Full Text] [Related]  

  • 5. PIGA mutations cause early-onset epileptic encephalopathies and distinctive features.
    Kato M; Saitsu H; Murakami Y; Kikuchi K; Watanabe S; Iai M; Miya K; Matsuura R; Takayama R; Ohba C; Nakashima M; Tsurusaki Y; Miyake N; Hamano S; Osaka H; Hayasaka K; Kinoshita T; Matsumoto N
    Neurology; 2014 May; 82(18):1587-96. PubMed ID: 24706016
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A novel PIGA mutation in a family with X-linked, early-onset epileptic encephalopathy.
    Kim YO; Yang JH; Park C; Kim SK; Kim MK; Shin MG; Woo YJ
    Brain Dev; 2016 Sep; 38(8):750-4. PubMed ID: 26923721
    [TBL] [Abstract][Full Text] [Related]  

  • 7. The phenotype of a germline mutation in PIGA: the gene somatically mutated in paroxysmal nocturnal hemoglobinuria.
    Johnston JJ; Gropman AL; Sapp JC; Teer JK; Martin JM; Liu CF; Yuan X; Ye Z; Cheng L; Brodsky RA; Biesecker LG
    Am J Hum Genet; 2012 Feb; 90(2):295-300. PubMed ID: 22305531
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Expanding the spectrum of phenotypes associated with germline PIGA mutations: a child with developmental delay, accelerated linear growth, facial dysmorphisms, elevated alkaline phosphatase, and progressive CNS abnormalities.
    van der Crabben SN; Harakalova M; Brilstra EH; van Berkestijn FM; Hofstede FC; van Vught AJ; Cuppen E; Kloosterman W; Ploos van Amstel HK; van Haaften G; van Haelst MM
    Am J Med Genet A; 2014 Jan; 164A(1):29-35. PubMed ID: 24259184
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Early-onset epileptic encephalopathy related to germline PIGA mutations: A series of 5 cases.
    Cabasson S; Van-Gils J; Villéga F; Abi-Warde MT; Barcia G; Lazaro L; Cancés C; Chelly J; Karsenty C; Rivera S; de Saint-Martin A; Trimouille A; Villard L; Pédespan JM
    Eur J Paediatr Neurol; 2020 Sep; 28():214-220. PubMed ID: 32694024
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Early frameshift mutation in PIGA identified in a large XLID family without neonatal lethality.
    Belet S; Fieremans N; Yuan X; Van Esch H; Verbeeck J; Ye Z; Cheng L; Brodsky BR; Hu H; Kalscheuer VM; Brodsky RA; Froyen G
    Hum Mutat; 2014 Mar; 35(3):350-5. PubMed ID: 24357517
    [TBL] [Abstract][Full Text] [Related]  

  • 11. The genotypic and phenotypic spectrum of PIGA deficiency.
    Tarailo-Graovac M; Sinclair G; Stockler-Ipsiroglu S; Van Allen M; Rozmus J; Shyr C; Biancheri R; Oh T; Sayson B; Lafek M; Ross CJ; Robinson WP; Wasserman WW; Rossi A; van Karnebeek CD
    Orphanet J Rare Dis; 2015 Feb; 10():23. PubMed ID: 25885527
    [TBL] [Abstract][Full Text] [Related]  

  • 12.
    Flores-Torres J; Carver JD; Sanchez-Valle A
    Pediatrics; 2021 Mar; 147(3):. PubMed ID: 33632934
    [TBL] [Abstract][Full Text] [Related]  

  • 13. The correlation between multiple congenital anomalies hypotonia seizures syndrome 2 and PIGA: a case of novel PIGA germline variant and literature review.
    Liu X; Meng J; Ma J; Shu J; Gu C; Chen X; Li D; Cai C
    Mol Biol Rep; 2022 Nov; 49(11):10469-10477. PubMed ID: 36116096
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 Caused by a Novel
    Gabaldon-Albero A; Cordon L; Sempere A; Pedrola L; Martin-Grau C; Oltra S; Monfort S; Caro-Llopis A; Dominguez-Martinez M; Hernandez-Muela S; Rosello M; Orellana C; Martinez F
    Genes (Basel); 2024 Jun; 15(6):. PubMed ID: 38927738
    [TBL] [Abstract][Full Text] [Related]  

  • 15. WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease.
    Vodopiutz J; Seidl R; Prayer D; Khan MI; Mayr JA; Streubel B; Steiß JO; Hahn A; Csaicsich D; Castro C; Assoum M; Müller T; Wieczorek D; Mancini GM; Sadowski CE; Lévy N; Mégarbané A; Godbole K; Schanze D; Hildebrandt F; Delague V; Janecke AR; Zenker M
    Hum Mutat; 2015 Nov; 36(11):1021-8. PubMed ID: 26123727
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Epileptic encephalopathy caused by ARV1 deficiency: Refinement of the genotype-phenotype spectrum and functional impact on GPI-anchored proteins.
    Salian S; Scala M; Nguyen TTM; Severino M; Accogli A; Amadori E; Torella A; Pinelli M; Hudson B; Boothe M; Hurst A; Ben-Omran T; Larsen MJ; Fagerberg CR; Sperling L; Miceikaite I; Herissant L; Doco-Fenzy M; Jennesson M; Nigro V; Striano P; Minetti C; Sachdev RK; Palmer EE; Capra V; Campeau PM
    Clin Genet; 2021 Nov; 100(5):607-614. PubMed ID: 34296759
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Early-Onset Dystonia and Visual Impairment Preceding Epileptic Encephalopathy Associated with PIGA Gene Mutation.
    Franquelim C; Romana A; Rachão A; Martins JS; Monteiro JP; Carvalho J
    Neuropediatrics; 2024 Aug; 55(4):265-268. PubMed ID: 38181819
    [TBL] [Abstract][Full Text] [Related]  

  • 18. WDR45 mutations in three male patients with West syndrome.
    Nakashima M; Takano K; Tsuyusaki Y; Yoshitomi S; Shimono M; Aoki Y; Kato M; Aida N; Mizuguchi T; Miyatake S; Miyake N; Osaka H; Saitsu H; Matsumoto N
    J Hum Genet; 2016 Jul; 61(7):653-61. PubMed ID: 27030146
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Germline Mutations in CTNNB1 Associated With Syndromic FEVR or Norrie Disease.
    Sun W; Xiao X; Li S; Jia X; Wang P; Zhang Q
    Invest Ophthalmol Vis Sci; 2019 Jan; 60(1):93-97. PubMed ID: 30640974
    [TBL] [Abstract][Full Text] [Related]  

  • 20. De novo mutations in SLC35A2 encoding a UDP-galactose transporter cause early-onset epileptic encephalopathy.
    Kodera H; Nakamura K; Osaka H; Maegaki Y; Haginoya K; Mizumoto S; Kato M; Okamoto N; Iai M; Kondo Y; Nishiyama K; Tsurusaki Y; Nakashima M; Miyake N; Hayasaka K; Sugahara K; Yuasa I; Wada Y; Matsumoto N; Saitsu H
    Hum Mutat; 2013 Dec; 34(12):1708-14. PubMed ID: 24115232
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.