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 *

244 related articles for article (PubMed ID: 27613244)

  • 1. Do the exome: A case of Williams-Beuren syndrome with severe epilepsy due to a truncating de novo variant in GABRA1.
    Popp B; Trollmann R; Büttner C; Caliebe A; Thiel CT; Hüffmeier U; Reis A; Zweier C
    Eur J Med Genet; 2016 Oct; 59(10):549-53. PubMed ID: 27613244
    [TBL] [Abstract][Full Text] [Related]  

  • 2. De novo GABRA1 mutations in Ohtahara and West syndromes.
    Kodera H; Ohba C; Kato M; Maeda T; Araki K; Tajima D; Matsuo M; Hino-Fukuyo N; Kohashi K; Ishiyama A; Takeshita S; Motoi H; Kitamura T; Kikuchi A; Tsurusaki Y; Nakashima M; Miyake N; Sasaki M; Kure S; Haginoya K; Saitsu H; Matsumoto N
    Epilepsia; 2016 Apr; 57(4):566-73. PubMed ID: 26918889
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Epilepsy is a possible feature in Williams-Beuren syndrome patients harboring typical deletions of the 7q11.23 critical region.
    Nicita F; Garone G; Spalice A; Savasta S; Striano P; Pantaleoni C; Spartà MV; Kluger G; Capovilla G; Pruna D; Freri E; D'Arrigo S; Verrotti A
    Am J Med Genet A; 2016 Jan; 170A(1):148-55. PubMed ID: 26437767
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Rapid whole-genome sequencing identifies a novel
    Farnaes L; Nahas SA; Chowdhury S; Nelson J; Batalov S; Dimmock DM; Kingsmore SF;
    Cold Spring Harb Mol Case Stud; 2017 Sep; 3(5):. PubMed ID: 28864462
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Genetic factors contributing to autism spectrum disorder in Williams-Beuren syndrome.
    Codina-Sola M; Costa-Roger M; Pérez-García D; Flores R; Palacios-Verdú MG; Cusco I; Pérez-Jurado LA
    J Med Genet; 2019 Dec; 56(12):801-808. PubMed ID: 31413120
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Neonatal epileptic encephalopathy caused by de novo GNAO1 mutation misdiagnosed as atypical Rett syndrome: Cautions in interpretation of genomic test results.
    Gerald B; Ramsey K; Belnap N; Szelinger S; Siniard AL; Balak C; Russell M; Richholt R; De Both M; Claasen AM; Schrauwen I; Huentelman MJ; Craig DW; Rangasamy S; Narayanan V
    Semin Pediatr Neurol; 2018 Jul; 26():28-32. PubMed ID: 29961512
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Infantile spasms in two children with Williams syndrome.
    Tsao CY; Westman JA
    Am J Med Genet; 1997 Jul; 71(1):54-6. PubMed ID: 9215769
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Smaller and larger deletions of the Williams Beuren syndrome region implicate genes involved in mild facial phenotype, epilepsy and autistic traits.
    Fusco C; Micale L; Augello B; Teresa Pellico M; Menghini D; Alfieri P; Cristina Digilio M; Mandriani B; Carella M; Palumbo O; Vicari S; Merla G
    Eur J Hum Genet; 2014 Jan; 22(1):64-70. PubMed ID: 23756441
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Infantile spasms in Williams-Beuren syndrome with typical deletions of the 7q11.23 critical region and a review of the literature.
    Samanta D
    Acta Neurol Belg; 2017 Mar; 117(1):359-362. PubMed ID: 27062269
    [No Abstract]   [Full Text] [Related]  

  • 10. Molecular investigation, using chromosomal microarray and whole exome sequencing, of six patients affected by Williams Beuren syndrome and Autism Spectrum Disorder.
    Masson J; Demily C; Chatron N; Labalme A; Rollat-Farnier PA; Schluth-Bolard C; Gilbert-Dussardier B; Giuliano F; Touraine R; Tordjman S; Verloes A; Testa G; Sanlaville D; Edery P; Lesca G; Rossi M
    Orphanet J Rare Dis; 2019 May; 14(1):121. PubMed ID: 31151468
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Social, neurodevelopmental, endocrine, and head size differences associated with atypical deletions in Williams-Beuren syndrome.
    Lugo M; Wong ZC; Billington CJ; Parrish PCR; Muldoon G; Liu D; Pober BR; Kozel BA
    Am J Med Genet A; 2020 May; 182(5):1008-1020. PubMed ID: 32077592
    [TBL] [Abstract][Full Text] [Related]  

  • 12. De Novo Truncating Mutation of TRIM8 Causes Early-Onset Epileptic Encephalopathy.
    Sakai Y; Fukai R; Matsushita Y; Miyake N; Saitsu H; Akamine S; Torio M; Sasazuki M; Ishizaki Y; Sanefuji M; Torisu H; Shaw CA; Matsumoto N; Hara T
    Ann Hum Genet; 2016 Jul; 80(4):235-40. PubMed ID: 27346735
    [TBL] [Abstract][Full Text] [Related]  

  • 13. De novo mutations in epileptic encephalopathies.
    ; ; Allen AS; Berkovic SF; Cossette P; Delanty N; Dlugos D; Eichler EE; Epstein MP; Glauser T; Goldstein DB; Han Y; Heinzen EL; Hitomi Y; Howell KB; Johnson MR; Kuzniecky R; Lowenstein DH; Lu YF; Madou MR; Marson AG; Mefford HC; Esmaeeli Nieh S; O'Brien TJ; Ottman R; Petrovski S; Poduri A; Ruzzo EK; Scheffer IE; Sherr EH; Yuskaitis CJ; Abou-Khalil B; Alldredge BK; Bautista JF; Berkovic SF; Boro A; Cascino GD; Consalvo D; Crumrine P; Devinsky O; Dlugos D; Epstein MP; Fiol M; Fountain NB; French J; Friedman D; Geller EB; Glauser T; Glynn S; Haut SR; Hayward J; Helmers SL; Joshi S; Kanner A; Kirsch HE; Knowlton RC; Kossoff EH; Kuperman R; Kuzniecky R; Lowenstein DH; McGuire SM; Motika PV; Novotny EJ; Ottman R; Paolicchi JM; Parent JM; Park K; Poduri A; Scheffer IE; Shellhaas RA; Sherr EH; Shih JJ; Singh R; Sirven J; Smith MC; Sullivan J; Lin Thio L; Venkat A; Vining EP; Von Allmen GK; Weisenberg JL; Widdess-Walsh P; Winawer MR
    Nature; 2013 Sep; 501(7466):217-21. PubMed ID: 23934111
    [TBL] [Abstract][Full Text] [Related]  

  • 14. GABRB3 mutations: a new and emerging cause of early infantile epileptic encephalopathy.
    Papandreou A; McTague A; Trump N; Ambegaonkar G; Ngoh A; Meyer E; Scott RH; Kurian MA
    Dev Med Child Neurol; 2016 Apr; 58(4):416-20. PubMed ID: 26645412
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Early Infantile Epileptic Encephalopathy with a de novo variant in ZEB2 identified by exome sequencing.
    Babkina N; Deignan JL; Lee H; Vilain E; Sankar R; Giurgea I; Mowat D; Graham JM
    Eur J Med Genet; 2016 Feb; 59(2):70-4. PubMed ID: 26721324
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Early onset epileptic encephalopathy caused by de novo SCN8A mutations.
    Ohba C; Kato M; Takahashi S; Lerman-Sagie T; Lev D; Terashima H; Kubota M; Kawawaki H; Matsufuji M; Kojima Y; Tateno A; Goldberg-Stern H; Straussberg R; Marom D; Leshinsky-Silver E; Nakashima M; Nishiyama K; Tsurusaki Y; Miyake N; Tanaka F; Matsumoto N; Saitsu H
    Epilepsia; 2014 Jul; 55(7):994-1000. PubMed ID: 24888894
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Zebrafish gene knockdowns imply roles for human YWHAG in infantile spasms and cardiomegaly.
    Komoike Y; Fujii K; Nishimura A; Hiraki Y; Hayashidani M; Shimojima K; Nishizawa T; Higashi K; Yasukawa K; Saitsu H; Miyake N; Mizuguchi T; Matsumoto N; Osawa M; Kohno Y; Higashinakagawa T; Yamamoto T
    Genesis; 2010 Apr; 48(4):233-43. PubMed ID: 20146355
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Molecular and phenotypic characterization of atypical Williams-Beuren syndrome.
    Euteneuer J; Carvalho CM; Kulkarni S; Vineyard M; Grady RM; Lupski JR; Shinawi M
    Clin Genet; 2014 Nov; 86(5):487-91. PubMed ID: 24246242
    [TBL] [Abstract][Full Text] [Related]  

  • 19. De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures.
    Myers CT; Stong N; Mountier EI; Helbig KL; Freytag S; Sullivan JE; Ben Zeev B; Nissenkorn A; Tzadok M; Heimer G; Shinde DN; Rezazadeh A; Regan BM; Oliver KL; Ernst ME; Lippa NC; Mulhern MS; Ren Z; Poduri A; Andrade DM; Bird LM; Bahlo M; Berkovic SF; Lowenstein DH; Scheffer IE; Sadleir LG; Goldstein DB; Mefford HC; Heinzen EL
    Am J Hum Genet; 2017 Oct; 101(4):516-524. PubMed ID: 28942967
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Infantile ictal apneas in a child with williams-beuren syndrome.
    Myers KA; McLeod DR; Bello-Espinosa L
    Pediatr Neurol; 2013 Feb; 48(2):149-51. PubMed ID: 23337011
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.