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 *

280 related articles for article (PubMed ID: 30057031)

  • 1. IRF2BPL Is Associated with Neurological Phenotypes.
    Marcogliese PC; Shashi V; Spillmann RC; Stong N; Rosenfeld JA; Koenig MK; Martínez-Agosto JA; Herzog M; Chen AH; Dickson PI; Lin HJ; Vera MU; Salamon N; Graham JM; Ortiz D; Infante E; Steyaert W; Dermaut B; Poppe B; Chung HL; Zuo Z; Lee PT; Kanca O; Xia F; Yang Y; Smith EC; Jasien J; Kansagra S; Spiridigliozzi G; El-Dairi M; Lark R; Riley K; Koeberl DD; Golden-Grant K; ; ; Yamamoto S; Wangler MF; Mirzaa G; Hemelsoet D; Lee B; Nelson SF; Goldstein DB; Bellen HJ; Pena LDM
    Am J Hum Genet; 2018 Aug; 103(2):245-260. PubMed ID: 30057031
    [TBL] [Abstract][Full Text] [Related]  

  • 2. IRF2BPL gene variants with dystonia: one new Chinese case report.
    Yang F; Li H; Dai Y; Zhang R; Zhang JT
    BMC Neurol; 2023 Jan; 23(1):32. PubMed ID: 36670390
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Mechanisms of IRF2BPL-related disorders and identification of a potential therapeutic strategy.
    Sinha Ray S; Dutta D; Dennys C; Powers S; Roussel F; Lisowski P; Glažar P; Zhang X; Biswas P; Caporale JR; Rajewsky N; Bickle M; Wein N; Bellen HJ; Likhite S; Marcogliese PC; Meyer KC
    Cell Rep; 2022 Dec; 41(10):111751. PubMed ID: 36476864
    [TBL] [Abstract][Full Text] [Related]  

  • 4. De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy.
    Tran Mau-Them F; Guibaud L; Duplomb L; Keren B; Lindstrom K; Marey I; Mochel F; van den Boogaard MJ; Oegema R; Nava C; Masurel A; Jouan T; Jansen FE; Au M; Chen AH; Cho M; Duffourd Y; Lozier E; Konovalov F; Sharkov A; Korostelev S; Urteaga B; Dickson P; Vera M; Martínez-Agosto JA; Begemann A; Zweier M; Schmitt-Mechelke T; Rauch A; Philippe C; van Gassen K; Nelson S; Graham JM; Friedman J; Faivre L; Lin HJ; Thauvin-Robinet C; Vitobello A
    Genet Med; 2019 Apr; 21(4):1008-1014. PubMed ID: 30166628
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Loss of IRF2BPL impairs neuronal maintenance through excess Wnt signaling.
    Marcogliese PC; Dutta D; Ray SS; Dang NDP; Zuo Z; Wang Y; Lu D; Fazal F; Ravenscroft TA; Chung H; Kanca O; Wan J; Douine ED; Network UD; Pena LDM; Yamamoto S; Nelson SF; Might M; Meyer KC; Yeo NC; Bellen HJ
    Sci Adv; 2022 Jan; 8(3):eabl5613. PubMed ID: 35044823
    [TBL] [Abstract][Full Text] [Related]  

  • 6. IRF2BPL: A new genotype for progressive myoclonus epilepsies.
    Costa C; Oliver KL; Calvello C; Cameron JM; Imperatore V; Tonelli L; Colavito D; Franceschetti S; Canafoglia L; Berkovic SF; Prontera P
    Epilepsia; 2023 Aug; 64(8):e164-e169. PubMed ID: 36810721
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Novel IRF2BPL gene mutation manifesting as a broad spectrum of neurological disorders: a case report.
    Khan WJ; Maqsood H; Younus S
    BMJ Neurol Open; 2023; 5(2):e000459. PubMed ID: 37649702
    [TBL] [Abstract][Full Text] [Related]  

  • 8. IRF2BPL as a novel causative gene for progressive myoclonus epilepsy.
    Gardella E; Michelucci R; Christensen HM; Fenger CD; Reale C; Riguzzi P; Pasini E; Albini-Riccioli L; Papa V; Foschini MP; Cenacchi G; Furia F; Marjanovic D; Hammer TB; Møller RS; Rubboli G
    Epilepsia; 2023 Aug; 64(8):e170-e176. PubMed ID: 37114479
    [TBL] [Abstract][Full Text] [Related]  

  • 9.
    Heide S; Davoine CS; Cunha P; Scherer-Gagou C; Keren B; Stevanin G; Charles P; Heron D; Brice A; Durr A
    Neurol Genet; 2023 Dec; 9(6):e200096. PubMed ID: 38235039
    [TBL] [Abstract][Full Text] [Related]  

  • 10. IRF2BPL gene mutation: Expanding on neurologic phenotypes.
    Shelkowitz E; Singh JK; Larson A; Elias ER
    Am J Med Genet A; 2019 Nov; 179(11):2263-2271. PubMed ID: 31432588
    [TBL] [Abstract][Full Text] [Related]  

  • 11. [Clinical features of epilepsy in children with IRF2BPL gene variation].
    Niu Q; Yang Y; Niu XY; Chen Y; Liu WW; Zhang YH
    Zhonghua Er Ke Za Zhi; 2021 Jun; 59(6):506-510. PubMed ID: 34102826
    [No Abstract]   [Full Text] [Related]  

  • 12. De novo variants in FRMD5 are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movement.
    Lu S; Ma M; Mao X; Bacino CA; Jankovic J; Sutton VR; Bartley JA; Wang X; Rosenfeld JA; Beleza-Meireles A; Chauhan J; Pan X; Li M; Liu P; Prescott K; Amin S; Davies G; Wangler MF; Dai Y; Bellen HJ
    Am J Hum Genet; 2022 Oct; 109(10):1932-1943. PubMed ID: 36206744
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Neurological phenomenology of the IRF2BPL mutation syndrome: Analysis of a new case and systematic review of the literature.
    Pisano S; Melis M; Figorilli M; Polizzi L; Rocchi L; Giglio S; Defazio G; Muroni A
    Seizure; 2022 Jul; 99():12-15. PubMed ID: 35525099
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Neurological Phenotypes of
    Horovitz DDG; de Faria Domingues de Lima MA; Pires LC; Campos Araujo AQ; Vargas FR
    J Cent Nerv Syst Dis; 2023; 15():11795735231181467. PubMed ID: 37346291
    [No Abstract]   [Full Text] [Related]  

  • 15. A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
    Paul MS; Michener SL; Pan H; Chan H; Pfliger JM; Rosenfeld JA; Lerma VC; Tran A; Longley MA; Lewis RA; Weisz-Hubshman M; Bekheirnia MR; Bekheirnia N; Massingham L; Zech M; Wagner M; Engels H; Cremer K; Mangold E; Peters S; Trautmann J; Mester JL; Guillen Sacoto MJ; Person R; McDonnell PP; Cohen SR; Lusk L; Cohen ASA; Le Pichon JB; Pastinen T; Zhou D; Engleman K; Racine C; Faivre L; Moutton S; Denommé-Pichon AS; Koh HY; Poduri A; Bolton J; Knopp C; Julia Suh DS; Maier A; Toosi MB; Karimiani EG; Maroofian R; Schaefer GB; Ramakumaran V; Vasudevan P; Prasad C; Osmond M; Schuhmann S; Vasileiou G; Russ-Hall S; Scheffer IE; Carvill GL; Mefford H; ; Bacino CA; Lee BH; Chao HT
    Am J Hum Genet; 2024 Jan; 111(1):96-118. PubMed ID: 38181735
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Neurodevelopmental disorder caused by a truncating de novo variant of IRF2BPL.
    Qian XH; Liu XY; Zhu ZY; Wang SG; Song XX; Chen G; Wu JY; Tang HD; Cao L
    Seizure; 2021 Jan; 84():47-52. PubMed ID: 33278788
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Loss-of-function variants in TIAM1 are associated with developmental delay, intellectual disability, and seizures.
    Lu S; Hernan R; Marcogliese PC; Huang Y; Gertler TS; Akcaboy M; Liu S; Chung HL; Pan X; Sun X; Oguz MM; Oztoprak U; de Baaij JHF; Ivanisevic J; McGinnis E; Guillen Sacoto MJ; Chung WK; Bellen HJ
    Am J Hum Genet; 2022 Apr; 109(4):571-586. PubMed ID: 35240055
    [TBL] [Abstract][Full Text] [Related]  

  • 18. De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay.
    Vissers LELM; Kalvakuri S; de Boer E; Geuer S; Oud M; van Outersterp I; Kwint M; Witmond M; Kersten S; Polla DL; Weijers D; Begtrup A; McWalter K; Ruiz A; Gabau E; Morton JEV; Griffith C; Weiss K; Gamble C; Bartley J; Vernon HJ; Brunet K; Ruivenkamp C; Kant SG; Kruszka P; Larson A; Afenjar A; Billette de Villemeur T; Nugent K; ; Raymond FL; Venselaar H; Demurger F; Soler-Alfonso C; Li D; Bhoj E; Hayes I; Hamilton NP; Ahmad A; Fisher R; van den Born M; Willems M; Sorlin A; Delanne J; Moutton S; Christophe P; Mau-Them FT; Vitobello A; Goel H; Massingham L; Phornphutkul C; Schwab J; Keren B; Charles P; Vreeburg M; De Simone L; Hoganson G; Iascone M; Milani D; Evenepoel L; Revencu N; Ward DI; Burns K; Krantz I; Raible SE; Murrell JR; Wood K; Cho MT; van Bokhoven H; Muenke M; Kleefstra T; Bodmer R; de Brouwer APM
    Am J Hum Genet; 2020 Jul; 107(1):164-172. PubMed ID: 32553196
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia.
    Yap ZY; Efthymiou S; Seiffert S; Vargas Parra K; Lee S; Nasca A; Maroofian R; Schrauwen I; Pendziwiat M; Jung S; Bhoj E; Striano P; Mankad K; Vona B; Cuddapah S; Wagner A; Alvi JR; Davoudi-Dehaghani E; Fallah MS; Gannavarapu S; Lamperti C; Legati A; Murtaza BN; Nadeem MS; Rehman MU; Saeidi K; Salpietro V; von Spiczak S; Sandoval A; Zeinali S; Zeviani M; Reich A; ; ; Jang C; Helbig I; Barakat TS; Ghezzi D; Leal SM; Weber Y; Houlden H; Yoon WH
    Am J Hum Genet; 2021 Dec; 108(12):2368-2384. PubMed ID: 34800363
    [TBL] [Abstract][Full Text] [Related]  

  • 20. De Novo Variants in CDK19 Are Associated with a Syndrome Involving Intellectual Disability and Epileptic Encephalopathy.
    Chung HL; Mao X; Wang H; Park YJ; Marcogliese PC; Rosenfeld JA; Burrage LC; Liu P; Murdock DR; Yamamoto S; Wangler MF; ; Chao HT; Long H; Feng L; Bacino CA; Bellen HJ; Xiao B
    Am J Hum Genet; 2020 May; 106(5):717-725. PubMed ID: 32330417
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 14.