BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

225 related articles for article (PubMed ID: 37789889)

  • 1. Novel variants in the
    Li S; Zhang W; Liang P; Zhu M; Zheng B; Zhou W; Wang C; Zhao X
    Front Neurol; 2023; 14():1096969. PubMed ID: 37789889
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Novel CLCN4 variant associated with syndromic X-linked intellectual disability in a Chinese girl: a case report.
    Xu X; Lu F; Zhang L; Li H; Du S; Tang J
    BMC Pediatr; 2021 Sep; 21(1):384. PubMed ID: 34479510
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Developmental and epileptic encephalopathy in a young Italian woman with a de novo missense variant in the CLCN4 gene: A case report.
    Rossi J; Russo M; Gobbi G; Terracciano A; Zuntini R; Giuseppe Caraffi S; Novelli A; Garavelli L; Valzania F; Rizzi R
    Brain Dev; 2023 Sep; 45(8):445-450. PubMed ID: 37271660
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Expanding the genetic and phenotypic relevance of CLCN4 variants in neurodevelopmental condition: 13 new patients.
    He H; Li X; Guzman GA; Bungert-Plümke S; Franzen A; Lin X; Zhu H; Peng G; Zhang H; Yu Y; Sun S; Huang Z; Zhai Q; Chen Z; Peng J; Guzman RE
    J Neurol; 2024 May; ():. PubMed ID: 38758281
    [TBL] [Abstract][Full Text] [Related]  

  • 5. De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females.
    Palmer EE; Stuhlmann T; Weinert S; Haan E; Van Esch H; Holvoet M; Boyle J; Leffler M; Raynaud M; Moraine C; van Bokhoven H; Kleefstra T; Kahrizi K; Najmabadi H; Ropers HH; Delgado MR; Sirsi D; Golla S; Sommer A; Pietryga MP; Chung WK; Wynn J; Rohena L; Bernardo E; Hamlin D; Faux BM; Grange DK; Manwaring L; Tolmie J; Joss S; ; Cobben JM; Duijkers FAM; Goehringer JM; Challman TD; Hennig F; Fischer U; Grimme A; Suckow V; Musante L; Nicholl J; Shaw M; Lodh SP; Niu Z; Rosenfeld JA; Stankiewicz P; Jentsch TJ; Gecz J; Field M; Kalscheuer VM
    Mol Psychiatry; 2018 Feb; 23(2):222-230. PubMed ID: 27550844
    [TBL] [Abstract][Full Text] [Related]  

  • 6. The molecular and phenotypic spectrum of CLCN4-related epilepsy.
    He H; Guzman RE; Cao D; Sierra-Marquez J; Yin F; Fahlke C; Peng J; Stauber T
    Epilepsia; 2021 Jun; 62(6):1401-1415. PubMed ID: 33951195
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Experience with the Ketogenic Diet in a Boy with
    Sager G; Yukselmis U; Güzel O; Turkyilmaz A; Akcay M
    Balkan J Med Genet; 2023 Dec; 26(2):77-82. PubMed ID: 38482266
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Prenatal diagnosis of CLCN4-related neurodevelopmental disorder in fetuses with congenital brain anomalies.
    Lam Z; Wall E; Ryan G; Barber R; Kilby MD; Williams DK
    Prenat Diagn; 2023 Aug; 43(9):1247-1250. PubMed ID: 37409888
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Identification and functional characterization of
    Li B; Wang Y; Hou D; Song Z; Zhang L; Li N; Yang R; Sun P
    Front Genet; 2023; 14():1270175. PubMed ID: 37928246
    [No Abstract]   [Full Text] [Related]  

  • 10. Exome sequencing reveals new causal mutations in children with epileptic encephalopathies.
    Veeramah KR; Johnstone L; Karafet TM; Wolf D; Sprissler R; Salogiannis J; Barth-Maron A; Greenberg ME; Stuhlmann T; Weinert S; Jentsch TJ; Pazzi M; Restifo LL; Talwar D; Erickson RP; Hammer MF
    Epilepsia; 2013 Jul; 54(7):1270-81. PubMed ID: 23647072
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Evaluating the Role of MAST1 as an Intellectual Disability Disease Gene: Identification of a Novel De Novo Variant in a Patient with Developmental Disabilities.
    Ben-Mahmoud A; Al-Shamsi AM; Ali BR; Al-Gazali L
    J Mol Neurosci; 2020 Mar; 70(3):320-327. PubMed ID: 31721002
    [TBL] [Abstract][Full Text] [Related]  

  • 12. De novo DDX3X missense variants in males appear viable and contribute to syndromic intellectual disability.
    Nicola P; Blackburn PR; Rasmussen KJ; Bertsch NL; Klee EW; Hasadsri L; Pichurin PN; Rankin J; Raymond FL; ; Clayton-Smith J
    Am J Med Genet A; 2019 Apr; 179(4):570-578. PubMed ID: 30734472
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Clinical and genetic analysis of six Chinese children with Poirier-Bienvenu neurodevelopmental syndrome caused by CSNK2B mutation.
    Yang S; Wu L; Liao H; Lu X; Zhang X; Kuang X; Yang L
    Neurogenetics; 2021 Oct; 22(4):323-332. PubMed ID: 34370157
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Genotype-phenotype correlation in CLCN4-related developmental and epileptic encephalopathy.
    Sahly AN; Sierra-Marquez J; Bungert-Plümke S; Franzen A; Mougharbel L; Berrahmoune S; Dassi C; Poulin C; Srour M; Guzman RE; Myers KA
    Hum Genet; 2024 May; 143(5):667-681. PubMed ID: 38578438
    [TBL] [Abstract][Full Text] [Related]  

  • 15. [Analysis of CLCN4 gene variant in a child with Raynaud-Claes syndrome].
    Li L; Luo S; Mei S; Shang Q; Zhang W; Zhang X; Liu L; Lei Z; Zhang Y
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Oct; 40(10):1280-1283. PubMed ID: 37730231
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Identification of two novel variants of the
    Che F; Tie X; Lei H; Zhang X; Duan M; Zhang L; Yang Y
    Front Mol Neurosci; 2022; 15():927357. PubMed ID: 36176959
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Functional Characterization of
    Guzman RE; Sierra-Marquez J; Bungert-Plümke S; Franzen A; Fahlke C
    Front Mol Neurosci; 2022; 15():872407. PubMed ID: 35721313
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Expansion of Clinical and Genetic Spectrum of
    Dai Y; Yang Z; Guo J; Li H; Gong J; Xie Y; Xiao B; Wang H; Long L
    Front Mol Neurosci; 2022; 15():793001. PubMed ID: 35392274
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Novel variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability in Iranian consanguineous families.
    Moudi M; Vahidi Mehrjardi MY; Hozhabri H; Metanat Z; Kalantar SM; Taheri M; Ghasemi N; Dehghani M
    J Clin Lab Anal; 2022 Feb; 36(2):e24241. PubMed ID: 35019165
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Whole exome sequencing identified five novel variants in
    Abdulkareem AA; Zaman Q; Khan H; Khan S; Rehman G; Tariq N; Ahmad M; Owais M; Najumuddin ; Muthaffar OY; Bibi F; Khang R; Ryu SW; Naseer MI; Jelani M
    Front Genet; 2023; 14():1185065. PubMed ID: 37359369
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 12.