BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

203 related articles for article (PubMed ID: 34273950)

  • 1. Erotomania and phenotypic continuum in a family frameshift variant of AUTS2: a case report and review.
    Gauld C; Poisson A; Reversat J; Peyroux E; Houdayer-Robert F; Rossi M; Lesca G; Sanlaville D; Demily C
    BMC Psychiatry; 2021 Jul; 21(1):360. PubMed ID: 34273950
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. Germ cell mosaicism for AUTS2 exon 6 deletion.
    Gieldon L; Jauch A; Obeid K; Kaufmann L; Hinderhofer K; Haug U; Moog U
    Am J Med Genet A; 2021 Apr; 185(4):1261-1265. PubMed ID: 33577136
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Whole Exome Sequencing Reveals a Novel
    Palumbo P; Di Muro E; Accadia M; Benvenuto M; Di Giacomo MC; Castellana S; Mazza T; Castori M; Palumbo O; Carella M
    Genes (Basel); 2021 Feb; 12(2):. PubMed ID: 33562463
    [TBL] [Abstract][Full Text] [Related]  

  • 5. AUTS2 Syndrome in a 68-year-old female: Natural history and further delineation of the phenotype.
    Sengun E; Yararbas K; Kasakyan S; Alanay Y
    Am J Med Genet A; 2016 Dec; 170(12):3231-3236. PubMed ID: 27531620
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 7q31.32 partial duplication: First report of a child with dysmorphism, autistic spectrum disorder, moderate intellectual disability and, epilepsy. Literature review.
    Pavone P; Corsello G; Marino SD; Ruggieri M; Falsaperla R
    Epilepsy Res; 2019 Dec; 158():106223. PubMed ID: 31707317
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A detailed clinical analysis of 13 patients with AUTS2 syndrome further delineates the phenotypic spectrum and underscores the behavioural phenotype.
    Beunders G; van de Kamp J; Vasudevan P; Morton J; Smets K; Kleefstra T; de Munnik SA; Schuurs-Hoeijmakers J; Ceulemans B; Zollino M; Hoffjan S; Wieczorek S; So J; Mercer L; Walker T; Velsher L; ; Parker MJ; Magee AC; Elffers B; Kooy RF; Yntema HG; Meijers-Heijboer EJ; Sistermans EA
    J Med Genet; 2016 Aug; 53(8):523-32. PubMed ID: 27075013
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus.
    Beunders G; Voorhoeve E; Golzio C; Pardo LM; Rosenfeld JA; Talkowski ME; Simonic I; Lionel AC; Vergult S; Pyatt RE; van de Kamp J; Nieuwint A; Weiss MM; Rizzu P; Verwer LE; van Spaendonk RM; Shen Y; Wu BL; Yu T; Yu Y; Chiang C; Gusella JF; Lindgren AM; Morton CC; van Binsbergen E; Bulk S; van Rossem E; Vanakker O; Armstrong R; Park SM; Greenhalgh L; Maye U; Neill NJ; Abbott KM; Sell S; Ladda R; Farber DM; Bader PI; Cushing T; Drautz JM; Konczal L; Nash P; de Los Reyes E; Carter MT; Hopkins E; Marshall CR; Osborne LR; Gripp KW; Thrush DL; Hashimoto S; Gastier-Foster JM; Astbury C; Ylstra B; Meijers-Heijboer H; Posthuma D; Menten B; Mortier G; Scherer SW; Eichler EE; Girirajan S; Katsanis N; Groffen AJ; Sistermans EA
    Am J Hum Genet; 2013 Feb; 92(2):210-20. PubMed ID: 23332918
    [TBL] [Abstract][Full Text] [Related]  

  • 9. De novo exon 1 deletion of AUTS2 gene in a patient with autism spectrum disorder and developmental delay: a case report and a brief literature review.
    Liu Y; Zhao D; Dong R; Yang X; Zhang Y; Tammimies K; Uddin M; Scherer SW; Gai Z
    Am J Med Genet A; 2015 Jun; 167(6):1381-5. PubMed ID: 25851617
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. 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]  

  • 12. 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]  

  • 13. Exonic deletions of AUTS2 in Chinese patients with developmental delay and intellectual disability.
    Fan Y; Qiu W; Wang L; Gu X; Yu Y
    Am J Med Genet A; 2016 Feb; 170A(2):515-522. PubMed ID: 26545289
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Two male adults with pathogenic AUTS2 variants, including a two-base pair deletion, further delineate the AUTS2 syndrome.
    Beunders G; de Munnik SA; Van der Aa N; Ceulemans B; Voorhoeve E; Groffen AJ; Nillesen WM; Meijers-Heijboer EJ; Frank Kooy R; Yntema HG; Sistermans EA
    Eur J Hum Genet; 2015 Jun; 23(6):803-7. PubMed ID: 25205402
    [TBL] [Abstract][Full Text] [Related]  

  • 15. The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8.
    Dingemans AJM; Truijen KMG; van de Ven S; Bernier R; Bongers EMHF; Bouman A; de Graaff-Herder L; Eichler EE; Gerkes EH; De Geus CM; van Hagen JM; Jansen PR; Kerkhof J; Kievit AJA; Kleefstra T; Maas SM; de Man SA; McConkey H; Patterson WG; Dobson AT; Prijoles EJ; Sadikovic B; Relator R; Stevenson RE; Stumpel CTRM; Heijligers M; Stuurman KE; Löhner K; Zeidler S; Lee JA; Lindy A; Zou F; Tedder ML; Vissers LELM; de Vries BBA
    Transl Psychiatry; 2022 Oct; 12(1):421. PubMed ID: 36182950
    [TBL] [Abstract][Full Text] [Related]  

  • 16. De novo single exon deletion of AUTS2 in a patient with speech and language disorder: a review of disrupted AUTS2 and further evidence for its role in neurodevelopmental disorders.
    Amarillo IE; Li WL; Li X; Vilain E; Kantarci S
    Am J Med Genet A; 2014 Apr; 164A(4):958-65. PubMed ID: 24459036
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder.
    Latypova X; Vincent M; Mollé A; Adebambo OA; Fourgeux C; Khan TN; Caro A; Rosello M; Orellana C; Niyazov D; Lederer D; Deprez M; Capri Y; Kannu P; Tabet AC; Levy J; Aten E; den Hollander N; Splitt M; Walia J; Immken LL; Stankiewicz P; McWalter K; Suchy S; Louie RJ; Bell S; Stevenson RE; Rousseau J; Willem C; Retiere C; Yang XJ; Campeau PM; Martinez F; Rosenfeld JA; Le Caignec C; Küry S; Mercier S; Moradkhani K; Conrad S; Besnard T; Cogné B; Katsanis N; Bézieau S; Poschmann J; Davis EE; Isidor B
    Am J Hum Genet; 2021 May; 108(5):929-941. PubMed ID: 33811806
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Recurrent 2q13 microduplication encompassing MALL, NPHP1, RGPD6, and BUB1 associated with autism spectrum disorder, intellectual disability, and liver disorder.
    Chen CP; Lin SP; Lee CL; Chern SR; Wu PS; Chen YN; Chen SW; Wang W
    Taiwan J Obstet Gynecol; 2017 Feb; 56(1):98-101. PubMed ID: 28254236
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A de novo frameshift pathogenic variant in TBR1 identified in autism without intellectual disability.
    Sapey-Triomphe LA; Reversat J; Lesca G; Chatron N; Bussa M; Mazoyer S; Schmitz C; Sonié S; Edery P
    Hum Genomics; 2020 Sep; 14(1):32. PubMed ID: 32948248
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 16p11.2 Duplication Syndrome - a Case Report.
    Levkova M; Stoyanova M; Staneva R; Hachmeriyan M; Angelova L
    Folia Med (Plovdiv); 2021 Feb; 63(1):138-141. PubMed ID: 33650406
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.