149 related articles for article (PubMed ID: 38424297)
1. 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]
2. 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]
3. 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]
4. 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]
5. 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]
6. Helsmoortel-van der Aa syndrome in a Chinese pediatric patient due to
Chen LJ; You ZM; Chen WH; Yang S; Feng CC; Wang HY; Wang T; Zhu YY
Front Pediatr; 2023; 11():1122513. PubMed ID: 37063667
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. [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]
9. 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]
10. 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]
11. 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]
12. [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]
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. 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]
15. 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]
16. Mutations in ADNP affect expression and subcellular localization of the protein.
Cappuyns E; Huyghebaert J; Vandeweyer G; Kooy RF
Cell Cycle; 2018; 17(9):1068-1075. PubMed ID: 29911927
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. ADNP promotes neural differentiation by modulating Wnt/β-catenin signaling.
Sun X; Peng X; Cao Y; Zhou Y; Sun Y
Nat Commun; 2020 Jun; 11(1):2984. PubMed ID: 32533114
[TBL] [Abstract][Full Text] [Related]
19. Further evidence that a blepharophimosis syndrome phenotype is associated with a specific class of mutation in the ADNP gene.
Takenouchi T; Miwa T; Sakamoto Y; Sakaguchi Y; Uehara T; Takahashi T; Kosaki K
Am J Med Genet A; 2017 Jun; 173(6):1631-1634. PubMed ID: 28407407
[TBL] [Abstract][Full Text] [Related]
20. [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]
[Next] [New Search]