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 *

207 related articles for article (PubMed ID: 36444493)

  • 1. Novel de novo ZNF148 truncating variant causing autism spectrum disorder, attention deficit hyperactivity disorder, and intellectual disability.
    Miao C; Du L; Zhang Y; Jia F; Shan L
    Clin Genet; 2023 Mar; 103(3):364-368. PubMed ID: 36444493
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Truncating de novo mutations in the Krüppel-type zinc-finger gene ZNF148 in patients with corpus callosum defects, developmental delay, short stature, and dysmorphisms.
    Stevens SJ; van Essen AJ; van Ravenswaaij CM; Elias AF; Haven JA; Lelieveld SH; Pfundt R; Nillesen WM; Yntema HG; van Roozendaal K; Stegmann AP; Gilissen C; Brunner HG
    Genome Med; 2016 Dec; 8(1):131. PubMed ID: 27964749
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior.
    Harris HK; Nakayama T; Lai J; Zhao B; Argyrou N; Gubbels CS; Soucy A; Genetti CA; Suslovitch V; Rodan LH; Tiller GE; Lesca G; Gripp KW; Asadollahi R; Hamosh A; Applegate CD; Turnpenny PD; Simon MEH; Volker-Touw CML; Gassen KLIV; Binsbergen EV; Pfundt R; Gardeitchik T; Vries BBA; Immken LL; Buchanan C; Willing M; Toler TL; Fassi E; Baker L; Vansenne F; Wang X; Ambrus JL; Fannemel M; Posey JE; Agolini E; Novelli A; Rauch A; Boonsawat P; Fagerberg CR; Larsen MJ; Kibaek M; Labalme A; Poisson A; Payne KK; Walsh LE; Aldinger KA; Balciuniene J; Skraban C; Gray C; Murrell J; Bupp CP; Pascolini G; Grammatico P; Broly M; Küry S; Nizon M; Rasool IG; Zahoor MY; Kraus C; Reis A; Iqbal M; Uguen K; Audebert-Bellanger S; Ferec C; Redon S; Baker J; Wu Y; Zampino G; Syrbe S; Brosse I; Jamra RA; Dobyns WB; Cohen LL; Blomhoff A; Mignot C; Keren B; Courtin T; Agrawal PB; Beggs AH; Yu TW
    Genet Med; 2021 Jun; 23(6):1028-1040. PubMed ID: 33658631
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with
    Szakszon K; Lourenco CM; Callewaert BL; Geneviève D; Rouxel F; Morin D; Denommé-Pichon AS; Vitobello A; Patterson WG; Louie R; Pinto E Vairo F; Klee E; Kaiwar C; Gavrilova RH; Agre KE; Jacquemont S; Khadijé J; Giltay J; van Gassen K; Merő G; Gerkes E; Van Bon BW; Rinne T; Pfundt R; Brunner HG; Caluseriu O; Grasshoff U; Kehrer M; Haack TB; Khelifa MM; Bergmann AK; Cueto-González AM; Martorell AC; Ramachandrappa S; Sawyer LB; Fasel P; Braun D; Isis A; Superti-Furga A; McNiven V; Chitayat D; Ahmed SA; Brennenstuhl H; Schwaibolf EM; Battisti G; Parmentier B; Stevens SJC
    J Med Genet; 2024 Jan; 61(2):132-141. PubMed ID: 37580113
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Pathogenic variants in
    Granadillo JL; P A Stegmann A; Guo H; Xia K; Angle B; Bontempo K; Ranells JD; Newkirk P; Costin C; Viront J; Stumpel CT; Sinnema M; Panis B; Pfundt R; Krapels IPC; Klaassens M; Nicolai J; Li J; Jiang Y; Marco E; Canton A; Latronico AC; Montenegro L; Leheup B; Bonnet C; M Amudhavalli S; Lawson CE; McWalter K; Telegrafi A; Pearson R; Kvarnung M; Wang X; Bi W; Rosenfeld JA; Shinawi M
    J Med Genet; 2020 Oct; 57(10):717-724. PubMed ID: 32152250
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Attention Deficit Hyperactivity and Autism Spectrum Disorders as the Core Symptoms of AUTS2 Syndrome: Description of Five New Patients and Update of the Frequency of Manifestations and Genotype-Phenotype Correlation.
    Sanchez-Jimeno C; Blanco-Kelly F; López-Grondona F; Losada-Del Pozo R; Moreno B; Rodrigo-Moreno M; Martinez-Cayuelas E; Riveiro-Alvarez R; Fenollar-Cortés M; Ayuso C; Rodríguez de Alba M; Lorda-Sanchez I; Almoguera B
    Genes (Basel); 2021 Aug; 12(9):. PubMed ID: 34573342
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Sequencing of sporadic Attention-Deficit Hyperactivity Disorder (ADHD) identifies novel and potentially pathogenic de novo variants and excludes overlap with genes associated with autism spectrum disorder.
    Kim DS; Burt AA; Ranchalis JE; Wilmot B; Smith JD; Patterson KE; Coe BP; Li YK; Bamshad MJ; Nikolas M; Eichler EE; Swanson JM; Nigg JT; Nickerson DA; Jarvik GP;
    Am J Med Genet B Neuropsychiatr Genet; 2017 Jun; 174(4):381-389. PubMed ID: 28332277
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Inattention and hyperactivity/impulsivity among children with attention-deficit/hyperactivity-disorder, autism spectrum disorder, and intellectual disability.
    McClain MB; Hasty Mills AM; Murphy LE
    Res Dev Disabil; 2017 Nov; 70():175-184. PubMed ID: 28957735
    [TBL] [Abstract][Full Text] [Related]  

  • 9. School dysfunction in youth with autistic spectrum disorder in Taiwan: The effect of subtype and ADHD.
    Chiang HL; Kao WC; Chou MC; Chou WJ; Chiu YN; Wu YY; Gau SS
    Autism Res; 2018 Jun; 11(6):857-869. PubMed ID: 29427542
    [TBL] [Abstract][Full Text] [Related]  

  • 10. [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]  

  • 11. Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism.
    Kim HG; Rosenfeld JA; Scott DA; Bénédicte G; Labonne JD; Brown J; McGuire M; Mahida S; Naidu S; Gutierrez J; Lesca G; des Portes V; Bruel AL; Sorlin A; Xia F; Capri Y; Muller E; McKnight D; Torti E; Rüschendorf F; Hummel O; Islam Z; Kolatkar PR; Layman LC; Ryu D; Kong IK; Madan-Khetarpal S; Kim CH
    Mol Autism; 2019; 10():35. PubMed ID: 31649809
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Truncating variant burden in high-functioning autism and pleiotropic effects of LRP1 across psychiatric phenotypes.
    Torrico B; Shaw AD; Mosca R; Vivó-Luque N; Hervás A; Fernàndez-Castillo N; Aloy P; Bayés M; Fullerton JM; Cormand B; Toma C
    J Psychiatry Neurosci; 2019 Sep; 44(5):350-359. PubMed ID: 31094488
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Pathogenic nonsense variant in NFIB in another patient with dysmorphism, Autism Spectrum Disorder, agenesis of the corpus callosum, and intellectual disability.
    Rao ACA; Goel H
    Eur J Med Genet; 2020 Dec; 63(12):104092. PubMed ID: 33130023
    [TBL] [Abstract][Full Text] [Related]  

  • 14. De novo variants in the Helicase-C domain of CHD8 are associated with severe phenotypes including autism, language disability and overgrowth.
    An Y; Zhang L; Liu W; Jiang Y; Chen X; Lan X; Li G; Hang Q; Wang J; Gusella JF; Du Y; Shen Y
    Hum Genet; 2020 Apr; 139(4):499-512. PubMed ID: 31980904
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A de novo truncating variant in CSDE1 in an adult-onset neuropsychiatric phenotype without intellectual disability.
    Krenn M; Kepa S; Kasprian G; Riedhammer KM; Wagner M; Goedl-Fleischhacker U; Milenkovic I
    Eur J Med Genet; 2022 Mar; 65(3):104423. PubMed ID: 35026469
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Functional DNA methylation signatures for autism spectrum disorder genomic risk loci: 16p11.2 deletions and CHD8 variants.
    Siu MT; Butcher DT; Turinsky AL; Cytrynbaum C; Stavropoulos DJ; Walker S; Caluseriu O; Carter M; Lou Y; Nicolson R; Georgiades S; Szatmari P; Anagnostou E; Scherer SW; Choufani S; Brudno M; Weksberg R
    Clin Epigenetics; 2019 Jul; 11(1):103. PubMed ID: 31311581
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Language deficits in specific language impairment, attention deficit/hyperactivity disorder, and autism spectrum disorder: An analysis of polygenic risk.
    Nudel R; Christiani CAJ; Ohland J; Uddin MJ; Hemager N; Ellersgaard DV; Spang KS; Burton BK; Greve AN; Gantriis DL; Bybjerg-Grauholm J; Jepsen JRM; Thorup AAE; Mors O; Nordentoft M; Werge T
    Autism Res; 2020 Mar; 13(3):369-381. PubMed ID: 31577390
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Characterization of an unbalanced translocation causing 3q28qter duplication and 10q26.2qter deletion in a patient with global developmental delay and self-injury.
    Osei-Owusu IA; Norris AL; Joynt AT; Thorpe J; Cho S; Tierney E; Schmidt J; Hagopian L; Harris J; Pevsner J
    Cold Spring Harb Mol Case Stud; 2020 Dec; 6(6):. PubMed ID: 33335013
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Discovery and Validation of Novel Genes in a Large Chinese Autism Spectrum Disorder Cohort.
    Wang J; Yu J; Wang M; Zhang L; Yang K; Du X; Wu J; Wang X; Li F; Qiu Z
    Biol Psychiatry; 2023 Nov; 94(10):792-803. PubMed ID: 37393044
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Glutamatergic and GABAergic gene sets in attention-deficit/hyperactivity disorder: association to overlapping traits in ADHD and autism.
    Naaijen J; Bralten J; Poelmans G; ; Glennon JC; Franke B; Buitelaar JK
    Transl Psychiatry; 2017 Jan; 7(1):e999. PubMed ID: 28072412
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.