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 *

109 related articles for article (PubMed ID: 29414593)

  • 1. A novel PIGA variant associated with severe X-linked epilepsy and profound developmental delay.
    Low KJ; James M; Sharples PM; Eaton M; Jenkinson S; Study DDD; Smithson SF
    Seizure; 2018 Mar; 56():1-3. PubMed ID: 29414593
    [No Abstract]   [Full Text] [Related]  

  • 2. Semi-dominant X-chromosome linked learning disability with progressive ataxia, spasticity and dystonia associated with the novel MECP2 variant p.V122A: akin to the new MECP2 duplication syndrome?
    McWilliam C; Cooke A; Lobo D; Warner J; Taylor M; Tolmie JL
    Eur J Paediatr Neurol; 2010 May; 14(3):267-9. PubMed ID: 19592282
    [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 novel X-linked disorder with developmental delay and autistic features.
    Kaya N; Colak D; Albakheet A; Al-Owain M; Abu-Dheim N; Al-Younes B; Al-Zahrani J; Mukaddes NM; Dervent A; Al-Dosari N; Al-Odaib A; Kayaalp IV; Al-Sayed M; Al-Hassnan Z; Nester MJ; Al-Dosari M; Al-Dhalaan H; Chedrawi A; Gunoz H; Karakas B; Sakati N; Alkuraya FS; Gascon GG; Ozand PT
    Ann Neurol; 2012 Apr; 71(4):498-508. PubMed ID: 22213401
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A homozygous variant disrupting the PIGH start-codon is associated with developmental delay, epilepsy, and microcephaly.
    Pagnamenta AT; Murakami Y; Anzilotti C; Titheradge H; Oates AJ; Morton J; ; Kinoshita T; Kini U; Taylor JC
    Hum Mutat; 2018 Jun; 39(6):822-826. PubMed ID: 29573052
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Expanding Phenotype of De Novo Mutations in GNAO1: Four New Cases and Review of Literature.
    Schorling DC; Dietel T; Evers C; Hinderhofer K; Korinthenberg R; Ezzo D; Bönnemann CG; Kirschner J
    Neuropediatrics; 2017 Oct; 48(5):371-377. PubMed ID: 28628939
    [No Abstract]   [Full Text] [Related]  

  • 7. Expanding the phenotype of TRAK1 mutations: hyperekplexia and refractory status epilepticus.
    Sagie S; Lerman-Sagie T; Maljevic S; Yosovich K; Detert K; Chung SK; Rees MI; Lerche H; Lev D
    Brain; 2018 Jul; 141(7):e55. PubMed ID: 29846532
    [No Abstract]   [Full Text] [Related]  

  • 8. Chromosome Xq28 duplication encompassing MECP2: Clinical and molecular analysis of 16 new patients from 10 families in China.
    Yi Z; Pan H; Li L; Wu H; Wang S; Ma Y; Qi Y
    Eur J Med Genet; 2016 Jun; 59(6-7):347-53. PubMed ID: 27180140
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A novel PIGA mutation in a Taiwanese family with early-onset epileptic encephalopathy.
    Lin WD; Chou IC; Tsai FJ; Hong SY
    Seizure; 2018 May; 58():52-54. PubMed ID: 29656098
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Clinical features and genetic analysis of children with hyperekplexia in Korea.
    Lee CG; Kwon MJ; Yu HJ; Nam SH; Lee J; Ki CS; Lee M
    J Child Neurol; 2013 Jan; 28(1):90-4. PubMed ID: 22532536
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. The contribution of X-linked coding variation to severe developmental disorders.
    Martin HC; Gardner EJ; Samocha KE; Kaplanis J; Akawi N; Sifrim A; Eberhardt RY; Tavares ALT; Neville MDC; Niemi MEK; Gallone G; McRae J; ; Wright CF; FitzPatrick DR; Firth HV; Hurles ME
    Nat Commun; 2021 Jan; 12(1):627. PubMed ID: 33504798
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 15q11.2 microdeletion (BP1-BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: a series of 52 patients.
    Vanlerberghe C; Petit F; Malan V; Vincent-Delorme C; Bouquillon S; Boute O; Holder-Espinasse M; Delobel B; Duban B; Vallee L; Cuisset JM; Lemaitre MP; Vantyghem MC; Pigeyre M; Lanco-Dosen S; Plessis G; Gerard M; Decamp M; Mathieu M; Morin G; Jedraszak G; Bilan F; Gilbert-Dussardier B; Fauvert D; Roume J; Cormier-Daire V; Caumes R; Puechberty J; Genevieve D; Sarda P; Pinson L; Blanchet P; Lemeur N; Sheth F; Manouvrier-Hanu S; Andrieux J
    Eur J Med Genet; 2015 Mar; 58(3):140-7. PubMed ID: 25596525
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Whole-exome sequencing in an individual with severe global developmental delay and intractable epilepsy identifies a novel, de novo GRIN2A mutation.
    Venkateswaran S; Myers KA; Smith AC; Beaulieu CL; Schwartzentruber JA; ; Majewski J; Bulman D; Boycott KM; Dyment DA
    Epilepsia; 2014 Jul; 55(7):e75-9. PubMed ID: 24903190
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Clinical and electroencephalographic features in patients with CDKL5 mutations: two new Italian cases and review of the literature.
    Pintaudi M; Baglietto MG; Gaggero R; Parodi E; Pessagno A; Marchi M; Russo S; Veneselli E
    Epilepsy Behav; 2008 Feb; 12(2):326-31. PubMed ID: 18063413
    [TBL] [Abstract][Full Text] [Related]  

  • 16. De novo translocation (2;18)(q21;q22) in a child with severe epilepsy, developmental delay and mild dysmorphism.
    Bal M; Schrander-Stumpel CT; Meers LE; Theunissen PM; Hamers AJ; Wennekes MJ; Engelen JJ
    Genet Couns; 2000; 11(3):221-7. PubMed ID: 11043430
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A novel mutation causing DEND syndrome: a treatable channelopathy of pancreas and brain.
    Shimomura K; Hörster F; de Wet H; Flanagan SE; Ellard S; Hattersley AT; Wolf NI; Ashcroft F; Ebinger F
    Neurology; 2007 Sep; 69(13):1342-9. PubMed ID: 17652641
    [TBL] [Abstract][Full Text] [Related]  

  • 18. GLRB is the third major gene of effect in hyperekplexia.
    Chung SK; Bode A; Cushion TD; Thomas RH; Hunt C; Wood SE; Pickrell WO; Drew CJ; Yamashita S; Shiang R; Leiz S; Longardt AC; Raile V; Weschke B; Puri RD; Verma IC; Harvey RJ; Ratnasinghe DD; Parker M; Rittey C; Masri A; Lingappa L; Howell OW; Vanbellinghen JF; Mullins JG; Lynch JW; Rees MI
    Hum Mol Genet; 2013 Mar; 22(5):927-40. PubMed ID: 23184146
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Seizures, enamel defects and psychomotor developmental delay: The first patient with Kohlschütter-Tönz syndrome caused by a ROGDI-gene deletion.
    Morscher RJ; Rauscher C; Sperl W; Rittinger O
    Seizure; 2017 Aug; 50():118-120. PubMed ID: 28651123
    [No Abstract]   [Full Text] [Related]  

  • 20. Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features.
    Niturad CE; Lev D; Kalscheuer VM; Charzewska A; Schubert J; Lerman-Sagie T; Kroes HY; Oegema R; Traverso M; Specchio N; Lassota M; Chelly J; Bennett-Back O; Carmi N; Koffler-Brill T; Iacomino M; Trivisano M; Capovilla G; Striano P; Nawara M; Rzonca S; Fischer U; Bienek M; Jensen C; Hu H; Thiele H; Altmüller J; Krause R; May P; Becker F; ; Balling R; Biskup S; Haas SA; Nürnberg P; van Gassen KLI; Lerche H; Zara F; Maljevic S; Leshinsky-Silver E
    Brain; 2017 Nov; 140(11):2879-2894. PubMed ID: 29053855
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 6.