BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

367 related articles for article (PubMed ID: 30269814)

  • 1. Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy.
    Nguyen TTM; Murakami Y; Wigby KM; Baratang NV; Rousseau J; St-Denis A; Rosenfeld JA; Laniewski SC; Jones J; Iglesias AD; Jones MC; Masser-Frye D; Scheuerle AE; Perry DL; Taft RJ; Le Deist F; Thompson M; Kinoshita T; Campeau PM
    Am J Hum Genet; 2018 Oct; 103(4):602-611. PubMed ID: 30269814
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy.
    Nguyen TTM; Murakami Y; Mobilio S; Niceta M; Zampino G; Philippe C; Moutton S; Zaki MS; James KN; Musaev D; Mu W; Baranano K; Nance JR; Rosenfeld JA; Braverman N; Ciolfi A; Millan F; Person RE; Bruel AL; Thauvin-Robinet C; Ververi A; DeVile C; Male A; Efthymiou S; Maroofian R; Houlden H; Maqbool S; Rahman F; Baratang NV; Rousseau J; St-Denis A; Elrick MJ; Anselm I; Rodan LH; Tartaglia M; Gleeson J; Kinoshita T; Campeau PM
    Am J Hum Genet; 2020 Apr; 106(4):484-495. PubMed ID: 32220290
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Expanding the phenotype of PIGS-associated early onset epileptic developmental encephalopathy.
    Efthymiou S; Dutra-Clarke M; Maroofian R; Kaiyrzhanov R; Scala M; Reza Alvi J; Sultan T; Christoforou M; Tuyet Mai Nguyen T; Mankad K; Vona B; Rad A; Striano P; Salpietro V; Guillen Sacoto MJ; Zaki MS; Gleeson JG; Campeau PM; Russell BE; Houlden H
    Epilepsia; 2021 Feb; 62(2):e35-e41. PubMed ID: 33410539
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia.
    Nguyen TTM; Murakami Y; Sheridan E; Ehresmann S; Rousseau J; St-Denis A; Chai G; Ajeawung NF; Fairbrother L; Reimschisel T; Bateman A; Berry-Kravis E; Xia F; Tardif J; Parry DA; Logan CV; Diggle C; Bennett CP; Hattingh L; Rosenfeld JA; Perry MS; Parker MJ; Le Deist F; Zaki MS; Ignatius E; Isohanni P; Lönnqvist T; Carroll CJ; Johnson CA; Gleeson JG; Kinoshita T; Campeau PM
    Am J Hum Genet; 2017 Nov; 101(5):856-865. PubMed ID: 29100095
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Reduced cell surface levels of GPI-linked markers in a new case with PIGG loss of function.
    Zhao JJ; Halvardson J; Knaus A; Georgii-Hemming P; Baeck P; Krawitz PM; Thuresson AC; Feuk L
    Hum Mutat; 2017 Oct; 38(10):1394-1401. PubMed ID: 28581210
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia.
    Makrythanasis P; Kato M; Zaki MS; Saitsu H; Nakamura K; Santoni FA; Miyatake S; Nakashima M; Issa MY; Guipponi M; Letourneau A; Logan CV; Roberts N; Parry DA; Johnson CA; Matsumoto N; Hamamy H; Sheridan E; Kinoshita T; Antonarakis SE; Murakami Y
    Am J Hum Genet; 2016 Apr; 98(4):615-26. PubMed ID: 26996948
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT.
    Kvarnung M; Nilsson D; Lindstrand A; Korenke GC; Chiang SC; Blennow E; Bergmann M; Stödberg T; Mäkitie O; Anderlid BM; Bryceson YT; Nordenskjöld M; Nordgren A
    J Med Genet; 2013 Aug; 50(8):521-8. PubMed ID: 23636107
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Novel compound heterozygous PIGT mutations caused multiple congenital anomalies-hypotonia-seizures syndrome 3.
    Nakashima M; Kashii H; Murakami Y; Kato M; Tsurusaki Y; Miyake N; Kubota M; Kinoshita T; Saitsu H; Matsumoto N
    Neurogenetics; 2014 Aug; 15(3):193-200. PubMed ID: 24906948
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Mutations in PIGU Impair the Function of the GPI Transamidase Complex, Causing Severe Intellectual Disability, Epilepsy, and Brain Anomalies.
    Knaus A; Kortüm F; Kleefstra T; Stray-Pedersen A; Đukić D; Murakami Y; Gerstner T; van Bokhoven H; Iqbal Z; Horn D; Kinoshita T; Hempel M; Krawitz PM
    Am J Hum Genet; 2019 Aug; 105(2):395-402. PubMed ID: 31353022
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Epileptic apnea in a patient with inherited glycosylphosphatidylinositol anchor deficiency and PIGT mutations.
    Kohashi K; Ishiyama A; Yuasa S; Tanaka T; Miya K; Adachi Y; Sato N; Saitsu H; Ohba C; Matsumoto N; Murakami Y; Kinoshita T; Sugai K; Sasaki M
    Brain Dev; 2018 Jan; 40(1):53-57. PubMed ID: 28728837
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Compound Heterozygous
    Hur YJ; Lee BL; Chung WY; Yu S; Jun KR; Oh SH
    Ann Clin Lab Sci; 2021 May; 51(3):422-425. PubMed ID: 34162574
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathy.
    Johnstone DL; Nguyen TT; Murakami Y; Kernohan KD; Tétreault M; Goldsmith C; Doja A; Wagner JD; Huang L; Hartley T; St-Denis A; le Deist F; Majewski J; Bulman DE; ; Kinoshita T; Dyment DA; Boycott KM; Campeau PM
    Hum Mol Genet; 2017 May; 26(9):1706-1715. PubMed ID: 28334793
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Genotype-phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/PIGN-related epilepsy.
    Fleming L; Lemmon M; Beck N; Johnson M; Mu W; Murdock D; Bodurtha J; Hoover-Fong J; Cohn R; Bosemani T; Barañano K; Hamosh A
    Am J Med Genet A; 2016 Jan; 170A(1):77-86. PubMed ID: 26394714
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A novel PIGN mutation and prenatal diagnosis of inherited glycosylphosphatidylinositol deficiency.
    Nakagawa T; Taniguchi-Ikeda M; Murakami Y; Nakamura S; Motooka D; Emoto T; Satake W; Nishiyama M; Toyoshima D; Morisada N; Takada S; Tairaku S; Okamoto N; Morioka I; Kurahashi H; Toda T; Kinoshita T; Iijima K
    Am J Med Genet A; 2016 Jan; 170A(1):183-8. PubMed ID: 26419326
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchors.
    Lam C; Golas GA; Davids M; Huizing M; Kane MS; Krasnewich DM; Malicdan MCV; Adams DR; Markello TC; Zein WM; Gropman AL; Lodish MB; Stratakis CA; Maric I; Rosenzweig SD; Baker EH; Ferreira CR; Danylchuk NR; Kahler S; Garnica AD; Bradley Schaefer G; Boerkoel CF; Gahl WA; Wolfe LA
    Mol Genet Metab; 2015; 115(2-3):128-140. PubMed ID: 25943031
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Hypotonia and intellectual disability without dysmorphic features in a patient with PIGN-related disease.
    Thiffault I; Zuccarelli B; Welsh H; Yuan X; Farrow E; Zellmer L; Miller N; Soden S; Abdelmoity A; Brodsky RA; Saunders C
    BMC Med Genet; 2017 Nov; 18(1):124. PubMed ID: 29096607
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Case report of a child bearing a novel deleterious splicing variant in PIGT.
    Mason S; Castilla-Vallmanya L; James C; Andrews PI; Balcells S; Grinberg D; Kirk EP; Urreizti R
    Medicine (Baltimore); 2019 Feb; 98(8):e14524. PubMed ID: 30813157
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Evidence of the milder phenotypic spectrum of c.1582G>A PIGT variant: Delineation based on seven novel Polish patients.
    Jezela-Stanek A; Szczepanik E; Mierzewska H; Rydzanicz M; Rutkowska K; Knaus A; Śmigiel R; Stępniak I; Markiewicz MG; Boniel S; Krawitz P; Płoski R
    Clin Genet; 2020 Nov; 98(5):468-476. PubMed ID: 32725661
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A post glycosylphosphatidylinositol (GPI) attachment to proteins, type 2 (PGAP2) variant identified in Mabry syndrome index cases: Molecular genetics of the prototypical inherited GPI disorder.
    Thompson MD; Knaus AA; Barshop BA; Caliebe A; Muhle H; Nguyen TTM; Baratang NV; Kinoshita T; Percy ME; Campeau PM; Murakami Y; Cole DE; Krawitz PM; Mabry CC
    Eur J Med Genet; 2020 Apr; 63(4):103822. PubMed ID: 31805394
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 19.