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 *

275 related articles for article (PubMed ID: 32758449)

  • 1. Episignatures Stratifying Helsmoortel-Van Der Aa Syndrome Show Modest Correlation with Phenotype.
    Breen MS; Garg P; Tang L; Mendonca D; Levy T; Barbosa M; Arnett AB; Kurtz-Nelson E; Agolini E; Battaglia A; Chiocchetti AG; Freitag CM; Garcia-Alcon A; Grammatico P; Hertz-Picciotto I; Ludena-Rodriguez Y; Moreno C; Novelli A; Parellada M; Pascolini G; Tassone F; Grice DE; Di Marino D; Bernier RA; Kolevzon A; Sharp AJ; Buxbaum JD; Siper PM; De Rubeis S
    Am J Hum Genet; 2020 Sep; 107(3):555-563. PubMed ID: 32758449
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome.
    Bend EG; Aref-Eshghi E; Everman DB; Rogers RC; Cathey SS; Prijoles EJ; Lyons MJ; Davis H; Clarkson K; Gripp KW; Li D; Bhoj E; Zackai E; Mark P; Hakonarson H; Demmer LA; Levy MA; Kerkhof J; Stuart A; Rodenhiser D; Friez MJ; Stevenson RE; Schwartz CE; Sadikovic B
    Clin Epigenetics; 2019 Apr; 11(1):64. PubMed ID: 31029150
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP.
    Van Dijck A; Vulto-van Silfhout AT; Cappuyns E; van der Werf IM; Mancini GM; Tzschach A; Bernier R; Gozes I; Eichler EE; Romano C; Lindstrand A; Nordgren A; ; Kvarnung M; Kleefstra T; de Vries BBA; Küry S; Rosenfeld JA; Meuwissen ME; Vandeweyer G; Kooy RF
    Biol Psychiatry; 2019 Feb; 85(4):287-297. PubMed ID: 29724491
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Helsmoortel-Van der Aa Syndrome as emerging clinical diagnosis in intellectually disabled children with autistic traits and ocular involvement.
    Pascolini G; Agolini E; Majore S; Novelli A; Grammatico P; Digilio MC
    Eur J Paediatr Neurol; 2018 May; 22(3):552-557. PubMed ID: 29475819
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Loss-of-function of activity-dependent neuroprotective protein (ADNP) by a splice-acceptor site mutation causes Helsmoortel-Van der Aa syndrome.
    D'Incal CP; Annear DJ; Elinck E; van der Smagt JJ; Alders M; Dingemans AJM; Mateiu L; de Vries BBA; Vanden Berghe W; Kooy RF
    Eur J Hum Genet; 2024 Jun; 32(6):630-638. PubMed ID: 38424297
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Blepharophimosis with intellectual disability and Helsmoortel-Van Der Aa Syndrome share episignature and phenotype.
    Sarli C; van der Laan L; Reilly J; Trajkova S; Carli D; Brusco A; Levy MA; Relator R; Kerkhof J; McConkey H; Tedder ML; Skinner C; Alders M; Henneman P; Hennekam RCM; Ciaccio C; D'Arrigo S; Vitobello A; Faivre L; Weber S; Vincent-Devulder A; Perrin L; Bourgois A; Yamamoto T; Metcalfe K; Zollino M; Kini U; Oliveira D; Sousa SB; Williams D; Cappuccio G; Sadikovic B; Brunetti-Pierri N
    Am J Med Genet C Semin Med Genet; 2024 Jun; ():e32089. PubMed ID: 38884529
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Extended phenotypic characterization of a novel Helsmoortel-van der Aa syndrome case series.
    Pascolini G; Di Zenzo G; Panebianco A; Didona B; Gozes I
    Am J Med Genet A; 2024 May; 194(5):e63539. PubMed ID: 38204290
    [TBL] [Abstract][Full Text] [Related]  

  • 8. ADNP dysregulates methylation and mitochondrial gene expression in the cerebellum of a Helsmoortel-Van der Aa syndrome autopsy case.
    D'Incal C; Van Dijck A; Ibrahim J; De Man K; Bastini L; Konings A; Elinck E; Gozes L; Marusic Z; Anicic M; Vukovic J; Van der Aa N; Mateiu L; Vanden Berghe W; Kooy RF
    Acta Neuropathol Commun; 2024 Apr; 12(1):62. PubMed ID: 38637827
    [TBL] [Abstract][Full Text] [Related]  

  • 9. [Analysis of clinical features and ADNP variant in a child with Helsmoortel-Van der Aa syndrome].
    Shen W; Chen W; Lu J; Zhou H
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Sep; 39(9):1001-1004. PubMed ID: 36082574
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Clinical impact and in vitro characterization of ADNP variants in pediatric patients.
    Ge C; Tian Y; Hu C; Mei L; Li D; Dong P; Zhang Y; Li H; Sun D; Peng W; Xu X; Jiang Y; Xu Q
    Mol Autism; 2024 Jan; 15(1):5. PubMed ID: 38254177
    [TBL] [Abstract][Full Text] [Related]  

  • 11. [Helsmoortel-Van der Aa syndrome due to hotspot mutation of ADNP gene and a literature review].
    Zhao X; Su Z; Xu Z; Su H; Zheng R
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Nov; 40(11):1382-1386. PubMed ID: 37906146
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Tracing the invisible mutant ADNP protein in Helsmoortel-Van der Aa syndrome patients.
    D'Incal CP; Cappuyns E; Choukri K; De Man K; Szrama K; Konings A; Bastini L; Van Meel K; Buys A; Gabriele M; Rizzuti L; Vitriolo A; Testa G; Mohn F; Bühler M; Van der Aa N; Van Dijck A; Kooy RF; Berghe WV
    Sci Rep; 2024 Jun; 14(1):14710. PubMed ID: 38926592
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Helsmoortel-Van der Aa Syndrome-Cardiothoracic and Ectodermal Manifestations in Two Patients as Further Support of a Previous Observation on Phenotypic Overlap with RASopathies.
    Szabó TM; Balogh I; Ujfalusi A; Szűcs Z; Madar L; Koczok K; Bessenyei B; Csürke I; Szakszon K
    Genes (Basel); 2022 Dec; 13(12):. PubMed ID: 36553633
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Abnormal fetal ultrasound leading to the diagnosis of ADNP syndrome.
    Rosenblum J; Van der Veeken L; Aertsen M; Meuwissen M; Jansen AC
    Eur J Med Genet; 2023 Nov; 66(11):104855. PubMed ID: 37758165
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A heterozygous microdeletion of 20q13.13 encompassing ADNP gene in a child with Helsmoortel-van der Aa syndrome.
    Huynh MT; Boudry-Labis E; Massard A; Thuillier C; Delobel B; Duban-Bedu B; Vincent-Delorme C
    Eur J Hum Genet; 2018 Oct; 26(10):1497-1501. PubMed ID: 29899371
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [Analysis of ADNP gene variant in a child with Helsmoortel-van der Aa syndrome].
    Ma J; Ma H; Zhang K; Lyu Y; Gao M; Wang D; Gai Z; Liu Y
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Apr; 39(4):428-432. PubMed ID: 35446982
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Longitudinal ophthalmic findings in a child with Helsmoortel-Van der Aa Syndrome.
    Gale MJ; Titus HE; Harman GA; Alabduljalil T; Dennis A; Wilson JL; Koeller DM; Finanger E; Blasco PA; Chiang PW; Karr DJ; Yang P
    Am J Ophthalmol Case Rep; 2018 Jun; 10():244-248. PubMed ID: 29780943
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Chromatin remodeler Activity-Dependent Neuroprotective Protein (ADNP) contributes to syndromic autism.
    D'Incal CP; Van Rossem KE; De Man K; Konings A; Van Dijck A; Rizzuti L; Vitriolo A; Testa G; Gozes I; Vanden Berghe W; Kooy RF
    Clin Epigenetics; 2023 Mar; 15(1):45. PubMed ID: 36945042
    [TBL] [Abstract][Full Text] [Related]  

  • 19. SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.
    Radio FC; Pang K; Ciolfi A; Levy MA; Hernández-García A; Pedace L; Pantaleoni F; Liu Z; de Boer E; Jackson A; Bruselles A; McConkey H; Stellacci E; Lo Cicero S; Motta M; Carrozzo R; Dentici ML; McWalter K; Desai M; Monaghan KG; Telegrafi A; Philippe C; Vitobello A; Au M; Grand K; Sanchez-Lara PA; Baez J; Lindstrom K; Kulch P; Sebastian J; Madan-Khetarpal S; Roadhouse C; MacKenzie JJ; Monteleone B; Saunders CJ; Jean Cuevas JK; Cross L; Zhou D; Hartley T; Sawyer SL; Monteiro FP; Secches TV; Kok F; Schultz-Rogers LE; Macke EL; Morava E; Klee EW; Kemppainen J; Iascone M; Selicorni A; Tenconi R; Amor DJ; Pais L; Gallacher L; Turnpenny PD; Stals K; Ellard S; Cabet S; Lesca G; Pascal J; Steindl K; Ravid S; Weiss K; Castle AMR; Carter MT; Kalsner L; de Vries BBA; van Bon BW; Wevers MR; Pfundt R; Stegmann APA; Kerr B; Kingston HM; Chandler KE; Sheehan W; Elias AF; Shinde DN; Towne MC; Robin NH; Goodloe D; Vanderver A; Sherbini O; Bluske K; Hagelstrom RT; Zanus C; Faletra F; Musante L; Kurtz-Nelson EC; Earl RK; Anderlid BM; Morin G; van Slegtenhorst M; Diderich KEM; Brooks AS; Gribnau J; Boers RG; Finestra TR; Carter LB; Rauch A; Gasparini P; Boycott KM; Barakat TS; Graham JM; Faivre L; Banka S; Wang T; Eichler EE; Priolo M; Dallapiccola B; Vissers LELM; Sadikovic B; Scott DA; Holder JL; Tartaglia M
    Am J Hum Genet; 2021 Mar; 108(3):502-516. PubMed ID: 33596411
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Longitudinal Genotype-Phenotype (Vineland Questionnaire) Characterization of 15 ADNP Syndrome Cases Highlights Mutated Protein Length and Structural Characteristics Correlation with Communicative Abilities Accentuated in Males.
    Levine J; Lobyntseva A; Shazman S; Hakim F; Gozes I
    J Mol Neurosci; 2024 Jan; 74(1):15. PubMed ID: 38282129
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 14.