BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

150 related articles for article (PubMed ID: 30666632)

  • 21. [Identification of a novel nonsense IQSEC2 variant in a child with X-linked intellectual disability].
    Wu R; Tang W; Qiu K; Tang D; Li X; Luo X
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2020 Aug; 37(8):823-827. PubMed ID: 32761587
    [TBL] [Abstract][Full Text] [Related]  

  • 22. De novo single-nucleotide and copy number variation in discordant monozygotic twins reveals disease-related genes.
    Vadgama N; Pittman A; Simpson M; Nirmalananthan N; Murray R; Yoshikawa T; De Rijk P; Rees E; Kirov G; Hughes D; Fitzgerald T; Kristiansen M; Pearce K; Cerveira E; Zhu Q; Zhang C; Lee C; Hardy J; Nasir J
    Eur J Hum Genet; 2019 Jul; 27(7):1121-1133. PubMed ID: 30886340
    [TBL] [Abstract][Full Text] [Related]  

  • 23. De novo missense variants in MEIS2 recapitulate the microdeletion phenotype of cardiac and palate abnormalities, developmental delay, intellectual disability and dysmorphic features.
    Douglas G; Cho MT; Telegrafi A; Winter S; Carmichael J; Zackai EH; Deardorff MA; Harr M; Williams L; Psychogios A; Erwin AL; Grebe T; Retterer K; Juusola J
    Am J Med Genet A; 2018 Sep; 176(9):1845-1851. PubMed ID: 30055086
    [TBL] [Abstract][Full Text] [Related]  

  • 24. IQSEC2-related encephalopathy in males due to missense variants in the pleckstrin homology domain.
    Shoubridge C; Dudding-Byth T; Pasquier L; Goel H; Yap P; McConnell V
    Clin Genet; 2022 Jul; 102(1):72-77. PubMed ID: 35347702
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Variants in DOCK3 cause developmental delay and hypotonia.
    Wiltrout K; Ferrer A; van de Laar I; Namekata K; Harada T; Klee EW; Zimmerman MT; Cousin MA; Kempainen JL; Babovic-Vuksanovic D; van Slegtenhorst MA; Aarts-Tesselaar CD; Schnur RE; Andrews M; Shinawi M
    Eur J Hum Genet; 2019 Aug; 27(8):1225-1234. PubMed ID: 30976111
    [TBL] [Abstract][Full Text] [Related]  

  • 26. [Analysis of IQSEC2 gene variant in a child with X-linked mental retardation].
    Zhao J; Yang X; Li J; Wang H; Zhang W; Fang F
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Apr; 39(4):421-424. PubMed ID: 35446980
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome.
    Olson HE; Tambunan D; LaCoursiere C; Goldenberg M; Pinsky R; Martin E; Ho E; Khwaja O; Kaufmann WE; Poduri A
    Am J Med Genet A; 2015 Sep; 167A(9):2017-25. PubMed ID: 25914188
    [TBL] [Abstract][Full Text] [Related]  

  • 28. [Genotypes and phenotypes of IQSEC2 gene variants related epilepsy].
    Wang DH; Niu XY; Cheng MM; Chen Y; Yang Y; Yang XL; Yang ZX; Zhang YH
    Zhonghua Er Ke Za Zhi; 2022 Dec; 60(12):1317-1321. PubMed ID: 36444437
    [No Abstract]   [Full Text] [Related]  

  • 29. Altered excitatory transmission onto hippocampal interneurons in the IQSEC2 mouse model of X-linked neurodevelopmental disease.
    Sah M; Shore AN; Petri S; Kanber A; Yang M; Weston MC; Frankel WN
    Neurobiol Dis; 2020 Apr; 137():104758. PubMed ID: 31978606
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Expanding the phenotype of intellectual disability caused by HIVEP2 variants.
    Goldsmith H; Wells A; Sá MJN; Williams M; Heussler H; Buckman M; Pfundt R; de Vries BBA; Goel H
    Am J Med Genet A; 2019 Sep; 179(9):1872-1877. PubMed ID: 31207095
    [TBL] [Abstract][Full Text] [Related]  

  • 31. IQSEC2 mutation associated with epilepsy, intellectual disability, and autism results in hyperexcitability of patient-derived neurons and deficient synaptic transmission.
    Brant B; Stern T; Shekhidem HA; Mizrahi L; Rosh I; Stern Y; Ofer P; Asleh A; Umanah GKE; Jada R; Levy NS; Levy AP; Stern S
    Mol Psychiatry; 2021 Dec; 26(12):7498-7508. PubMed ID: 34535765
    [TBL] [Abstract][Full Text] [Related]  

  • 32. The clinical presentation caused by truncating CHD8 variants.
    Douzgou S; Liang HW; Metcalfe K; Somarathi S; Tischkowitz M; Mohamed W; Kini U; McKee S; Yates L; Bertoli M; Lynch SA; Holder S; ; Banka S
    Clin Genet; 2019 Jul; 96(1):72-84. PubMed ID: 31001818
    [TBL] [Abstract][Full Text] [Related]  

  • 33. A novel splicing mutation in the IQSEC2 gene that modulates the phenotype severity in a family with intellectual disability.
    Madrigal I; Alvarez-Mora MI; Rosell J; Rodríguez-Revenga L; Karlberg O; Sauer S; Syvänen AC; Mila M
    Eur J Hum Genet; 2016 Aug; 24(8):1117-23. PubMed ID: 26733290
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Incorrect dosage of IQSEC2, a known intellectual disability and epilepsy gene, disrupts dendritic spine morphogenesis.
    Hinze SJ; Jackson MR; Lie S; Jolly L; Field M; Barry SC; Harvey RJ; Shoubridge C
    Transl Psychiatry; 2017 May; 7(5):e1110. PubMed ID: 28463240
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Clinical and molecular delineation of PUS3-associated neurodevelopmental disorders.
    Nøstvik M; Kateta SM; Schönewolf-Greulich B; Afenjar A; Barth M; Boschann F; Doummar D; Haack TB; Keren B; Livshits LA; Mei D; Park J; Pisano T; Prouteau C; Umair M; Waqas A; Ziegler A; Guerrini R; Møller RS; Tümer Z
    Clin Genet; 2021 Nov; 100(5):628-633. PubMed ID: 34415064
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Neuroanatomic variation in monozygotic twin pairs discordant for the narrow phenotype for autism.
    Kates WR; Burnette CP; Eliez S; Strunge LA; Kaplan D; Landa R; Reiss AL; Pearlson GD
    Am J Psychiatry; 2004 Mar; 161(3):539-46. PubMed ID: 14992981
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Tenorio syndrome: Description of 14 novel cases and review of the clinical and molecular features.
    Tenorio-Castaño JA; Arias P; Fernández-Jaén A; Lay-Son G; Bueno-Lozano G; Bayat A; Faivre L; Gallego N; Ramos S; Butler KM; Morel C; Hadjiyannakis S; Lespinasse J; Tran-Mau-Them F; Santos-Simarro F; Pinson L; Martínez-Monseny AF; O'Callaghan Cord MDM; Álvarez S; Stolerman ES; Washington C; Ramos FJ; The S O G R I Consortium ; Lapunzina P
    Clin Genet; 2021 Oct; 100(4):405-411. PubMed ID: 34196401
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS+ phenotypic spectrum: a case report.
    Alves RM; Uva P; Veiga MF; Oppo M; Zschaber FCR; Porcu G; Porto HP; Persico I; Onano S; Cuccuru G; Atzeni R; Vieira LCN; Pires MVA; Cucca F; Toralles MBP; Angius A; Crisponi L
    BMC Med Genet; 2019 Jan; 20(1):16. PubMed ID: 30642272
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Heterozygous loss of function of
    Jackson MR; Loring KE; Homan CC; Thai MH; Määttänen L; Arvio M; Jarvela I; Shaw M; Gardner A; Gecz J; Shoubridge C
    Life Sci Alliance; 2019 Aug; 2(4):. PubMed ID: 31439632
    [TBL] [Abstract][Full Text] [Related]  

  • 40. 22q11 deletion in DGS/VCFS monozygotic twins with discordant phenotypes.
    Vincent MC; Heitz F; Tricoire J; Bourrouillou G; Kuhlein E; Rolland M; Calvas P
    Genet Couns; 1999; 10(1):43-9. PubMed ID: 10191428
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 8.