BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

204 related articles for article (PubMed ID: 34273950)

  • 21. Diagnosis and clinical presentation of two individuals with a rare
    Schneeweiss MR; Dale B; Ejaz R
    BMJ Case Rep; 2022 Dec; 15(12):. PubMed ID: 36593604
    [No Abstract]   [Full Text] [Related]  

  • 22. Establishment of human induced pluripotent stem cell line (SDQLCHi060-A) from a patient with AUTS2 syndrome carrying a heterozygous mutation in AUTS2 gene.
    Gao C; Liu Y; Liu N; Li Z; Yang X; Yang Y; Xi Y; Tian J; Gai Z
    Stem Cell Res; 2023 Dec; 73():103242. PubMed ID: 37948839
    [TBL] [Abstract][Full Text] [Related]  

  • 23. De novo nonsense and frameshift variants of TCF20 in individuals with intellectual disability and postnatal overgrowth.
    Schäfgen J; Cremer K; Becker J; Wieland T; Zink AM; Kim S; Windheuser IC; Kreiß M; Aretz S; Strom TM; Wieczorek D; Engels H
    Eur J Hum Genet; 2016 Dec; 24(12):1739-1745. PubMed ID: 27436265
    [TBL] [Abstract][Full Text] [Related]  

  • 24. De novo small deletion affecting transcription start site of short isoform of AUTS2 gene in a patient with syndromic neurodevelopmental defects.
    Martinez-Delgado B; Lopez-Martin E; Lara-Herguedas J; Monzon S; Cuesta I; Juliá M; Aquino V; Rodriguez-Martin C; Damian A; Gonzalo I; Gomez-Mariano G; Baladron B; Cazorla R; Iglesias G; Roman E; Ros P; Tutor P; Mellor S; Jimenez C; Cabrejas MJ; Gonzalez-Vioque E; Alonso J; Bermejo-Sánchez E; Posada M
    Am J Med Genet A; 2021 Mar; 185(3):877-883. PubMed ID: 33346930
    [TBL] [Abstract][Full Text] [Related]  

  • 25. De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.
    Vetrini F; McKee S; Rosenfeld JA; Suri M; Lewis AM; Nugent KM; Roeder E; Littlejohn RO; Holder S; Zhu W; Alaimo JT; Graham B; Harris JM; Gibson JB; Pastore M; McBride KL; Komara M; Al-Gazali L; Al Shamsi A; Fanning EA; Wierenga KJ; Scott DA; Ben-Neriah Z; Meiner V; Cassuto H; Elpeleg O; Holder JL; Burrage LC; Seaver LH; Van Maldergem L; Mahida S; Soul JS; Marlatt M; Matyakhina L; Vogt J; Gold JA; Park SM; Varghese V; Lampe AK; Kumar A; Lees M; Holder-Espinasse M; McConnell V; Bernhard B; Blair E; Harrison V; ; Muzny DM; Gibbs RA; Elsea SH; Posey JE; Bi W; Lalani S; Xia F; Yang Y; Eng CM; Lupski JR; Liu P
    Genome Med; 2019 Feb; 11(1):12. PubMed ID: 30819258
    [TBL] [Abstract][Full Text] [Related]  

  • 26. A ZFHX4 mutation associated with a recognizable neuropsychological and facial phenotype.
    Fontana P; Ginevrino M; Bejo K; Cantalupo G; Ciavarella M; Lombardi C; Maioli M; Scarano F; Costabile C; Novelli A; Lonardo F
    Eur J Med Genet; 2021 Nov; 64(11):104321. PubMed ID: 34461323
    [TBL] [Abstract][Full Text] [Related]  

  • 27. TBL1XR1 associated intellectual disability, a new missense variant with dysmorphic features plus autism: Expanding the phenotypic spectrum.
    Arroyo Carrera I; Fernández-Burriel M; Lapunzina P; Tenorio JA; García Navas VD; Márquez Isidro E
    Clin Genet; 2021 Jun; 99(6):812-817. PubMed ID: 33527360
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Neurodevelopmental disorder caused by an inherited novel KMT5B variant: case report.
    Odak L; Vulin K; Meašić AM; Šamadan L; Tripalo Batoš A
    Croat Med J; 2023 Oct; 64(5):334-338. PubMed ID: 37927187
    [TBL] [Abstract][Full Text] [Related]  

  • 29. The autism spectrum phenotype in ADNP syndrome.
    Arnett AB; Rhoads CL; Hoekzema K; Turner TN; Gerdts J; Wallace AS; Bedrosian-Sermone S; Eichler EE; Bernier RA
    Autism Res; 2018 Sep; 11(9):1300-1310. PubMed ID: 30107084
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Splice variant in ARX leading to loss of C-terminal region in a boy with intellectual disability and infantile onset developmental and epileptic encephalopathy.
    Shoubridge C; Jackson M; Grinton B; Berkovic SF; Scheffer IE; Huskins S; Thomas A; Ware T
    Am J Med Genet A; 2019 Aug; 179(8):1483-1490. PubMed ID: 31145546
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Prospective investigation of FOXP1 syndrome.
    Siper PM; De Rubeis S; Trelles MDP; Durkin A; Di Marino D; Muratet F; Frank Y; Lozano R; Eichler EE; Kelly M; Beighley J; Gerdts J; Wallace AS; Mefford HC; Bernier RA; Kolevzon A; Buxbaum JD
    Mol Autism; 2017; 8():57. PubMed ID: 29090079
    [TBL] [Abstract][Full Text] [Related]  

  • 32. ZNF462 and KLF12 are disrupted by a de novo translocation in a patient with syndromic intellectual disability and autism spectrum disorder.
    Cosemans N; Vandenhove L; Maljaars J; Van Esch H; Devriendt K; Baldwin A; Fryns JP; Noens I; Peeters H
    Eur J Med Genet; 2018 Jul; 61(7):376-383. PubMed ID: 29427787
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder.
    Chaudhry A; Noor A; Degagne B; Baker K; Bok LA; Brady AF; Chitayat D; Chung BH; Cytrynbaum C; Dyment D; Filges I; Helm B; Hutchison HT; Jeng LJ; Laumonnier F; Marshall CR; Menzel M; Parkash S; Parker MJ; ; Raymond LF; Rideout AL; Roberts W; Rupps R; Schanze I; Schrander-Stumpel CT; Speevak MD; Stavropoulos DJ; Stevens SJ; Thomas ER; Toutain A; Vergano S; Weksberg R; Scherer SW; Vincent JB; Carter MT
    Clin Genet; 2015 Sep; 88(3):224-33. PubMed ID: 25131214
    [TBL] [Abstract][Full Text] [Related]  

  • 34. ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants.
    Kloth K; Lozic B; Tagoe J; Hoffer MJV; Van der Ven A; Thiele H; Altmüller J; Kubisch C; Au PYB; Denecke J; Bijlsma EK; Lessel D
    Neurogenetics; 2021 Oct; 22(4):263-269. PubMed ID: 34218362
    [TBL] [Abstract][Full Text] [Related]  

  • 35. A Mouse Mutation That Dysregulates Neighboring
    Weisner PA; Chen CY; Sun Y; Yoo J; Kao WC; Zhang H; Baltz ET; Troy JM; Stubbs L
    G3 (Bethesda); 2019 Nov; 9(11):3891-3906. PubMed ID: 31554716
    [No Abstract]   [Full Text] [Related]  

  • 36. Brief Report: SETD2 Mutation in a Child with Autism, Intellectual Disabilities and Epilepsy.
    Lumish HS; Wynn J; Devinsky O; Chung WK
    J Autism Dev Disord; 2015 Nov; 45(11):3764-70. PubMed ID: 26084711
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Auts2 regulated autism-like behavior, glucose metabolism and oxidative stress in mice.
    Liu M; Chen Y; Sun M; Du Y; Bai Y; Lei G; Zhang C; Zhang M; Zhang Y; Xi C; Ma Y; Wang G
    Exp Neurol; 2023 Mar; 361():114298. PubMed ID: 36525998
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.
    Cheng H; Dharmadhikari AV; Varland S; Ma N; Domingo D; Kleyner R; Rope AF; Yoon M; Stray-Pedersen A; Posey JE; Crews SR; Eldomery MK; Akdemir ZC; Lewis AM; Sutton VR; Rosenfeld JA; Conboy E; Agre K; Xia F; Walkiewicz M; Longoni M; High FA; van Slegtenhorst MA; Mancini GMS; Finnila CR; van Haeringen A; den Hollander N; Ruivenkamp C; Naidu S; Mahida S; Palmer EE; Murray L; Lim D; Jayakar P; Parker MJ; Giusto S; Stracuzzi E; Romano C; Beighley JS; Bernier RA; Küry S; Nizon M; Corbett MA; Shaw M; Gardner A; Barnett C; Armstrong R; Kassahn KS; Van Dijck A; Vandeweyer G; Kleefstra T; Schieving J; Jongmans MJ; de Vries BBA; Pfundt R; Kerr B; Rojas SK; Boycott KM; Person R; Willaert R; Eichler EE; Kooy RF; Yang Y; Wu JC; Lupski JR; Arnesen T; Cooper GM; Chung WK; Gecz J; Stessman HAF; Meng L; Lyon GJ
    Am J Hum Genet; 2018 May; 102(5):985-994. PubMed ID: 29656860
    [TBL] [Abstract][Full Text] [Related]  

  • 39. [Intellectual developmental disability overlapping with autism spectrum disorder and attention deficit-hyperactivity disorder].
    Mulas F; Rojas M
    Medicina (B Aires); 2018; 78 Suppl 2():63-68. PubMed ID: 30199368
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Further evidence of a causal association between AGO1, a critical regulator of microRNA formation, and intellectual disability/autism spectrum disorder.
    Sakaguchi A; Yamashita Y; Ishii T; Uehara T; Kosaki K; Takahashi T; Takenouchi T
    Eur J Med Genet; 2019 Jun; 62(6):103537. PubMed ID: 30213762
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 11.