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: 35456494)

  • 1. Identification of a Novel
    Doddato G; Fabbiani A; Scandurra V; Canitano R; Mencarelli MA; Renieri A; Ariani F
    Genes (Basel); 2022 Apr; 13(4):. PubMed ID: 35456494
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Phenotypic spectrum of SHANK2-related neurodevelopmental disorder.
    Caumes R; Smol T; Thuillier C; Balerdi M; Lestienne-Roche C; Manouvrier-Hanu S; Ghoumid J
    Eur J Med Genet; 2020 Dec; 63(12):104072. PubMed ID: 32987185
    [TBL] [Abstract][Full Text] [Related]  

  • 3. De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder.
    Mirzaa GM; Chong JX; Piton A; Popp B; Foss K; Guo H; Harripaul R; Xia K; Scheck J; Aldinger KA; Sajan SA; Tang S; Bonneau D; Beck A; White J; Mahida S; Harris J; Smith-Hicks C; Hoyer J; Zweier C; Reis A; Thiel CT; Jamra RA; Zeid N; Yang A; Farach LS; Walsh L; Payne K; Rohena L; Velinov M; Ziegler A; Schaefer E; Gatinois V; Geneviève D; Simon MEH; Kohler J; Rotenberg J; Wheeler P; Larson A; Ernst ME; Akman CI; Westman R; Blanchet P; Schillaci LA; Vincent-Delorme C; Gripp KW; Mattioli F; Guyader GL; Gerard B; Mathieu-Dramard M; Morin G; Sasanfar R; Ayub M; Vasli N; Yang S; Person R; Monaghan KG; Nickerson DA; van Binsbergen E; Enns GM; Dries AM; Rowe LJ; Tsai ACH; Svihovec S; Friedman J; Agha Z; Qamar R; Rodan LH; Martinez-Agosto J; Ockeloen CW; Vincent M; Sunderland WJ; Bernstein JA; ; Eichler EE; Vincent JB; ; Bamshad MJ
    Genet Med; 2020 Mar; 22(3):538-546. PubMed ID: 31723249
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Identification of novel
    Wu Y; Li W; Tan B; Luo S
    Front Neurosci; 2023; 17():1275421. PubMed ID: 38075274
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies.
    Fountain MD; Oleson DS; Rech ME; Segebrecht L; Hunter JV; McCarthy JM; Lupo PJ; Holtgrewe M; Moran R; Rosenfeld JA; Isidor B; Le Caignec C; Saenz MS; Pedersen RC; Morgan TM; Pfotenhauer JP; Xia F; Bi W; Kang SL; Patel A; Krantz ID; Raible SE; Smith W; Cristian I; Torti E; Juusola J; Millan F; Wentzensen IM; Person RE; Küry S; Bézieau S; Uguen K; Férec C; Munnich A; van Haelst M; Lichtenbelt KD; van Gassen K; Hagelstrom T; Chawla A; Perry DL; Taft RJ; Jones M; Masser-Frye D; Dyment D; Venkateswaran S; Li C; Escobar LF; Horn D; Spillmann RC; Peña L; Wierzba J; Strom TM; Parenti I; Kaiser FJ; Ehmke N; Schaaf CP
    Genet Med; 2019 Aug; 21(8):1797-1807. PubMed ID: 30679821
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A rare exonic NRXN3 deletion segregating with neurodevelopmental and neuropsychiatric conditions in a three-generation Chinese family.
    Yuan H; Wang Q; Liu Y; Yang W; He Y; Gusella JF; Song J; Shen Y
    Am J Med Genet B Neuropsychiatr Genet; 2018 Sep; 177(6):589-595. PubMed ID: 30076746
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Locus heterogeneity in two siblings presenting with developmental delay, intellectual disability and autism spectrum disorder.
    Brugger M; Brunet T; Wagner M; Orec LE; Schwaibold EMC; Boy N
    Gene; 2021 Feb; 768():145260. PubMed ID: 33164824
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature.
    Torti E; Keren B; Palmer EE; Zhu Z; Afenjar A; Anderson IJ; Andrews MV; Atkinson C; Au M; Berry SA; Bowling KM; Boyle J; Buratti J; Cathey SS; Charles P; Cogne B; Courtin T; Escobar LF; Finley SL; Graham JM; Grange DK; Heron D; Hewson S; Hiatt SM; Hibbs KA; Jayakar P; Kalsner L; Larcher L; Lesca G; Mark PR; Miller K; Nava C; Nizon M; Pai GS; Pappas J; Parsons G; Payne K; Putoux A; Rabin R; Sabatier I; Shinawi M; Shur N; Skinner SA; Valence S; Warren H; Whalen S; Crunk A; Douglas G; Monaghan KG; Person RE; Willaert R; Solomon BD; Juusola J
    Genet Med; 2019 Sep; 21(9):2036-2042. PubMed ID: 30739909
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation.
    Berkel S; Marshall CR; Weiss B; Howe J; Roeth R; Moog U; Endris V; Roberts W; Szatmari P; Pinto D; Bonin M; Riess A; Engels H; Sprengel R; Scherer SW; Rappold GA
    Nat Genet; 2010 Jun; 42(6):489-91. PubMed ID: 20473310
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Novel de novo TRIP12 mutation reveals variable phenotypic presentation while emphasizing core features of TRIP12 variations.
    Donoghue T; Garrity L; Ziolkowski A; McPhillips M; Buckman M; Goel H
    Am J Med Genet A; 2020 Jul; 182(7):1801-1806. PubMed ID: 32424948
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Identification of a novel Shank2 transcriptional variant in Shank2 knockout mouse model of autism spectrum disorder.
    Lee YS; Yu NK; Chun J; Yang JE; Lim CS; Kim H; Park G; Lee JA; Lee K; Kaang BK; Lee JH
    Mol Brain; 2020 Apr; 13(1):54. PubMed ID: 32252796
    [TBL] [Abstract][Full Text] [Related]  

  • 12. BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder.
    Scott TM; Guo H; Eichler EE; Rosenfeld JA; Pang K; Liu Z; Lalani S; Bi W; Yang Y; Bacino CA; Streff H; Lewis AM; Koenig MK; Thiffault I; Bellomo A; Everman DB; Jones JR; Stevenson RE; Bernier R; Gilissen C; Pfundt R; Hiatt SM; Cooper GM; Holder JL; Scott DA
    Hum Mutat; 2020 May; 41(5):921-925. PubMed ID: 31999386
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Novel CIC variants identified in individuals with neurodevelopmental phenotypes.
    Sharma S; Hourigan B; Patel Z; Rosenfeld JA; Chan KM; Wangler MF; Yi JS; Lehman A; ; Horvath G; Cloos PA; Tan Q
    Hum Mutat; 2022 Jul; 43(7):889-899. PubMed ID: 35165976
    [TBL] [Abstract][Full Text] [Related]  

  • 14. De novo variants in KLF7 are a potential novel cause of developmental delay/intellectual disability, neuromuscular and psychiatric symptoms.
    Powis Z; Petrik I; Cohen JS; Escolar D; Burton J; van Ravenswaaij-Arts CMA; Sival DA; Stegmann APA; Kleefstra T; Pfundt R; Chikarmane R; Begtrup A; Huether R; Tang S; Shinde DN
    Clin Genet; 2018 May; 93(5):1030-1038. PubMed ID: 29251763
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Expansion of the Genotypic and Phenotypic Spectrum of
    Cordova I; Blesson A; Savatt JM; Sveden A; Mahida S; Hazlett H; Rooney Riggs E; Chopra M;
    Genes (Basel); 2024 Mar; 15(4):. PubMed ID: 38674358
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Mutations in TBR1 gene leads to cortical malformations and intellectual disability.
    Vegas N; Cavallin M; Kleefstra T; de Boer L; Philbert M; Maillard C; Boddaert N; Munnich A; Hubert L; Bery A; Besmond C; Bahi-Buisson N
    Eur J Med Genet; 2018 Dec; 61(12):759-764. PubMed ID: 30268909
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Phenotypic variability in RERE-related disorders and the first report of an inherited variant.
    Niehaus AD; Kim J; Manning MA
    Am J Med Genet A; 2022 Nov; 188(11):3358-3363. PubMed ID: 36053530
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Exome sequencing analysis in a pair of monozygotic twins re-evaluates the genetics behind their intellectual disability and reveals a CHD2 mutation.
    Pinto AM; Bianciardi L; Mencarelli MA; Imperatore V; Di Marco C; Furini S; Suppiej A; Salviati L; Tenconi R; Ariani F; Mari F; Renieri A
    Brain Dev; 2016 Jun; 38(6):590-6. PubMed ID: 26754451
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Expanding the genetic and phenotypic spectrum of TRAPPC9 and MID2-related neurodevelopmental disabilities: report of two novel mutations, 3D-modelling, and molecular docking studies.
    Kharrat M; Triki C; Ben Isaa A; Bouchaala W; Alila O; Chouchen J; Ghouliya Y; Kamoun F; Tlili A; Fakhfakh F
    J Hum Genet; 2024 Jul; 69(7):291-299. PubMed ID: 38467738
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Phenotypic expansion of POGZ-related intellectual disability syndrome (White-Sutton syndrome).
    Assia Batzir N; Posey JE; Song X; Akdemir ZC; Rosenfeld JA; Brown CW; Chen E; Holtrop SG; Mizerik E; Nieto Moreno M; Payne K; Raas-Rothschild A; Scott R; Vernon HJ; Zadeh N; ; Lupski JR; Sutton VR
    Am J Med Genet A; 2020 Jan; 182(1):38-52. PubMed ID: 31782611
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.