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 *

203 related articles for article (PubMed ID: 38540691)

  • 1. Characteristics of Developmental and Epileptic Encephalopathy Associated with
    Stoian A; Bajko Z; Bălașa R; Andone S; Stoian M; Ormenișan I; Muntean C; Bănescu C
    Biomolecules; 2024 Feb; 14(3):. PubMed ID: 38540691
    [TBL] [Abstract][Full Text] [Related]  

  • 2. [Early infantile epileptic encephalopathy caused by PACS2 gene variation: three cases report and literature review].
    Wu MJ; Hu CH; Ma JH; Hu JS; Liu ZS; Sun D
    Zhonghua Er Ke Za Zhi; 2021 Jul; 59(7):594-599. PubMed ID: 34405643
    [No Abstract]   [Full Text] [Related]  

  • 3. PACS2 pathogenic variant associated with malformation of cortical development and epilepsy.
    Checri R; Dozières-Puyravel B; Elmaleh-Bergès M; Verloes A; Auvin S
    Epileptic Disord; 2024 Apr; 26(2):215-218. PubMed ID: 38031819
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Clinical variations of epileptic syndrome associated with PACS2 variant.
    Mizuno T; Miyata R; Hojo A; Tamura Y; Nakashima M; Mizuguchi T; Matsumoto N; Kato M
    Brain Dev; 2021 Feb; 43(2):343-347. PubMed ID: 33243487
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.
    Olson HE; Jean-Marçais N; Yang E; Heron D; Tatton-Brown K; van der Zwaag PA; Bijlsma EK; Krock BL; Backer E; Kamsteeg EJ; Sinnema M; Reijnders MRF; Bearden D; Begtrup A; Telegrafi A; Lunsing RJ; Burglen L; Lesca G; Cho MT; Smith LA; Sheidley BR; Moufawad El Achkar C; Pearl PL; Poduri A; Skraban CM; Tarpinian J; Nesbitt AI; Fransen van de Putte DE; Ruivenkamp CAL; Rump P; Chatron N; Sabatier I; De Bellescize J; Guibaud L; Sweetser DA; Waxler JL; Wierenga KJ; ; Donadieu J; Narayanan V; Ramsey KM; ; Nava C; Rivière JB; Vitobello A; Tran Mau-Them F; Philippe C; Bruel AL; Duffourd Y; Thomas L; Lelieveld SH; Schuurs-Hoeijmakers J; Brunner HG; Keren B; Thevenon J; Faivre L; Thomas G; Thauvin-Robinet C
    Am J Hum Genet; 2018 May; 102(5):995-1007. PubMed ID: 29656858
    [TBL] [Abstract][Full Text] [Related]  

  • 6. [Clinical and genetic analysis of PACS2 gene variant in two child patients with developmental and epileptic encephalopathy 66].
    Shen Y; Li Y; Zhang J; Yuan M; Zhang J; Luo R; Gan J
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Oct; 38(10):969-972. PubMed ID: 34625934
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Expanding the clinical spectrum associated with PACS2 mutations.
    Dentici ML; Barresi S; Niceta M; Ciolfi A; Trivisano M; Bartuli A; Digilio MC; Specchio N; Dallapiccola B; Tartaglia M
    Clin Genet; 2019 Apr; 95(4):525-531. PubMed ID: 30684285
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A missense variant in the
    Haque A; Naseer MI
    Pak J Med Sci; 2024; 40(4):782-784. PubMed ID: 38545008
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Long-Term Outcome of Neonatal Seizure with
    Chou IJ; Hou JY; Fan WL; Tsai MH; Lin KL
    Children (Basel); 2023 Mar; 10(4):. PubMed ID: 37189870
    [No Abstract]   [Full Text] [Related]  

  • 10. First reported case of an inherited PACS2 pathogenic variant with variable expression.
    Cesaroni E; Matricardi S; Cappanera S; Marini C
    Epileptic Disord; 2022 Jun; 24(3):572-576. PubMed ID: 35770754
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Coloboma may be a shared feature in a spectrum of disorders caused by mutations in the WDR37-PACS1-PACS2 axis.
    Sakaguchi Y; Yoshihashi H; Uehara T; Miyama S; Kosaki K; Takenouchi T
    Am J Med Genet A; 2021 Mar; 185(3):884-888. PubMed ID: 33369122
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Vein of Galen aneurysm, dilated cardiomyopathy, and slender habitus in a patient with a recurrent pathogenic variant in PACS2.
    Valenzuela I; Guillén Benítez E; Sanchez-Montanez A; Limeres J; López-Grondona F; Cuscó I; Tizzano EF
    Am J Med Genet A; 2022 Mar; 188(3):991-995. PubMed ID: 34894068
    [TBL] [Abstract][Full Text] [Related]  

  • 13. PACS gene family-related neurological diseases: limited genotypes and diverse phenotypes.
    Zhang H; Gao K; Wang S; Zhang YH; Yang ZX; Wu Y; Jiang YW
    World J Pediatr; 2024 Jan; 20(1):82-91. PubMed ID: 36645641
    [TBL] [Abstract][Full Text] [Related]  

  • 14. The molecular and phenotypic spectrum of IQSEC2-related epilepsy.
    Zerem A; Haginoya K; Lev D; Blumkin L; Kivity S; Linder I; Shoubridge C; Palmer EE; Field M; Boyle J; Chitayat D; Gaillard WD; Kossoff EH; Willems M; Geneviève D; Tran-Mau-Them F; Epstein O; Heyman E; Dugan S; Masurel-Paulet A; Piton A; Kleefstra T; Pfundt R; Sato R; Tzschach A; Matsumoto N; Saitsu H; Leshinsky-Silver E; Lerman-Sagie T
    Epilepsia; 2016 Nov; 57(11):1858-1869. PubMed ID: 27665735
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Neonatal developmental and epileptic encephalopathy due to autosomal recessive variants in SLC13A5 gene.
    Matricardi S; De Liso P; Freri E; Costa P; Castellotti B; Magri S; Gellera C; Granata T; Musante L; Lesca G; Oertel J; Craiu D; Hammer TB; Møller RS; Barisic N; Abou Jamra R; Polster T; Vigevano F; Marini C
    Epilepsia; 2020 Nov; 61(11):2474-2485. PubMed ID: 33063863
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [Genotype and phenotype of children with KCNA2 gene related developmental and epileptic encephalopathy].
    Gong P; Xue J; Jiao XR; Zhang YH; Yang ZX
    Zhonghua Er Ke Za Zhi; 2020 Jan; 58(1):35-40. PubMed ID: 31905474
    [No Abstract]   [Full Text] [Related]  

  • 17. Letter to the Editor: Depression As The First Symptom Of Frontal Lobe Grade 2 Malignant Glioma.
    Nazlı ŞB; Sevindik M
    Turk Psikiyatri Derg; 2022; 33(2):143-145. PubMed ID: 35730515
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Defining the phenotype of FHF1 developmental and epileptic encephalopathy.
    Trivisano M; Ferretti A; Bebin E; Huh L; Lesca G; Siekierska A; Takeguchi R; Carneiro M; De Palma L; Guella I; Haginoya K; Shi RM; Kikuchi A; Kobayashi T; Jung J; Lagae L; Milh M; Mathieu ML; Minassian BA; Novelli A; Pietrafusa N; Takeshita E; Tartaglia M; Terracciano A; Thompson ML; Cooper GM; Vigevano F; Villard L; Villeneuve N; Buyse GM; Demos M; Scheffer IE; Specchio N
    Epilepsia; 2020 Jul; 61(7):e71-e78. PubMed ID: 32645220
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Novel homozygous AP3B2 mutations in four individuals with developmental and epileptic encephalopathy: A rare clinical entity.
    Dilber C; Yücel G; Şahin Y
    Clin Neurol Neurosurg; 2022 Dec; 223():107509. PubMed ID: 36356440
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [Genotype and phenotype analysis of neonates with neonatal encephalopathy complicated with perinatal hypoxic event].
    Xiao TT; Yang L; Wu BB; Peng XM; Wang HJ; Cheng GQ; Wang LS; Cao Y; Hu LY; Zhou WH
    Zhonghua Er Ke Za Zhi; 2021 Apr; 59(4):280-285. PubMed ID: 33775046
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 11.