140 related articles for article (PubMed ID: 37950019)
1. Nanopore long-read sequencing analysis reveals ZIC1 dysregulation caused by a de novo 3q inversion with a breakpoint located 7 kb downstream of ZIC1.
Murakami H; Enomoto Y; Kumaki T; Aida N; Kurosawa K
J Hum Genet; 2024 Jan; 69(1):47-52. PubMed ID: 37950019
[TBL] [Abstract][Full Text] [Related]
2. ZIC1 Function in Normal Cerebellar Development and Human Developmental Pathology.
Aruga J; Millen KJ
Adv Exp Med Biol; 2018; 1046():249-268. PubMed ID: 29442326
[TBL] [Abstract][Full Text] [Related]
3. Multiple developmental programs are altered by loss of Zic1 and Zic4 to cause Dandy-Walker malformation cerebellar pathogenesis.
Blank MC; Grinberg I; Aryee E; Laliberte C; Chizhikov VV; Henkelman RM; Millen KJ
Development; 2011 Mar; 138(6):1207-16. PubMed ID: 21307096
[TBL] [Abstract][Full Text] [Related]
4. Caput membranaceum: A novel clinical presentation of ZIC1 related skull malformation and craniosynostosis.
Sasaki E; Byrne AT; Murray DJ; Reardon W
Am J Med Genet A; 2020 Dec; 182(12):2994-2998. PubMed ID: 32975022
[TBL] [Abstract][Full Text] [Related]
5. Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability.
Twigg SR; Forecki J; Goos JA; Richardson IC; Hoogeboom AJ; van den Ouweland AM; Swagemakers SM; Lequin MH; Van Antwerp D; McGowan SJ; Westbury I; Miller KA; Wall SA; ; van der Spek PJ; Mathijssen IM; Pauws E; Merzdorf CS; Wilkie AO
Am J Hum Genet; 2015 Sep; 97(3):378-88. PubMed ID: 26340333
[TBL] [Abstract][Full Text] [Related]
6. Mutated zinc finger protein of the cerebellum 1 leads to microcephaly, cortical malformation, callosal agenesis, cerebellar dysplasia, tethered cord and scoliosis.
Vandervore LV; Schot R; Hoogeboom AJM; Lincke C; de Coo IF; Lequin MH; Dremmen M; van Unen LMA; Saris JJ; Jansen AC; van Slegtenhorst MA; Wilke M; Mancini GMS
Eur J Med Genet; 2018 Dec; 61(12):783-789. PubMed ID: 30391508
[TBL] [Abstract][Full Text] [Related]
7. Dandy-Walker malformation associated with heterozygous ZIC1 and ZIC4 deletion: Report of a new patient.
Tohyama J; Kato M; Kawasaki S; Harada N; Kawara H; Matsui T; Akasaka N; Ohashi T; Kobayashi Y; Matsumoto N
Am J Med Genet A; 2011 Jan; 155A(1):130-3. PubMed ID: 21204220
[TBL] [Abstract][Full Text] [Related]
8. Dandy-Walker malformation and Wisconsin syndrome: novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletions.
Ferraris A; Bernardini L; Sabolic Avramovska V; Zanni G; Loddo S; Sukarova-Angelovska E; Parisi V; Capalbo A; Tumini S; Travaglini L; Mancini F; Duma F; Barresi S; Novelli A; Mercuri E; Tarani L; ; Bertini E; Dallapiccola B; Valente EM
Orphanet J Rare Dis; 2013 May; 8():75. PubMed ID: 23679990
[TBL] [Abstract][Full Text] [Related]
9. Heterozygous deletion of the linked genes ZIC1 and ZIC4 is involved in Dandy-Walker malformation.
Grinberg I; Northrup H; Ardinger H; Prasad C; Dobyns WB; Millen KJ
Nat Genet; 2004 Oct; 36(10):1053-5. PubMed ID: 15338008
[TBL] [Abstract][Full Text] [Related]
10. Joubert syndrome: a haplotype segregation strategy and exclusion of the zinc finger protein of cerebellum 1 (ZIC1) gene.
Bennett CL; Parisi MA; Eckert ML; Huynh HM; Chance PF; Glass IA
Am J Med Genet A; 2004 Mar; 125A(2):117-24; discussion 117. PubMed ID: 14981711
[TBL] [Abstract][Full Text] [Related]
11. De novo interstitial deletion of 3q22.3-q25.2 encompassing FOXL2, ATR, ZIC1, and ZIC4 in a patient with blepharophimosis/ptosis/epicanthus inversus syndrome, Dandy-Walker malformation, and global developmental delay.
Lim BC; Park WY; Seo EJ; Kim KJ; Hwang YS; Chae JH
J Child Neurol; 2011 May; 26(5):615-8. PubMed ID: 21471554
[TBL] [Abstract][Full Text] [Related]
12. De Novo 3q22.3q24 Microdeletion in a Patient With Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome, Dandy-Walker Malformation, and Wisconsin Syndrome.
Ramineni A; Coman D
Child Neurol Open; 2016; 3():2329048X16666362. PubMed ID: 28503614
[TBL] [Abstract][Full Text] [Related]
13. Zic2 controls cerebellar development in cooperation with Zic1.
Aruga J; Inoue T; Hoshino J; Mikoshiba K
J Neurosci; 2002 Jan; 22(1):218-25. PubMed ID: 11756505
[TBL] [Abstract][Full Text] [Related]
14. Sagittal craniosynostosis, Dandy-Walker malformation, and hydrocephalus: a unique multiple malformation syndrome.
Braddock SR; Jones KL; Superneau DW; Jones MC
Am J Med Genet; 1993 Oct; 47(5):640-3; discussion 644. PubMed ID: 8266990
[TBL] [Abstract][Full Text] [Related]
15. FGF17, a gene involved in cerebellar development, is downregulated in a patient with Dandy-Walker malformation carrying a de novo 8p deletion.
Zanni G; Barresi S; Travaglini L; Bernardini L; Rizza T; Digilio MC; Mercuri E; Cianfarani S; Valeriani M; Ferraris A; Da Sacco L; Novelli A; Valente EM; Dallapiccola B; Bertini ES
Neurogenetics; 2011 Aug; 12(3):241-5. PubMed ID: 21484435
[TBL] [Abstract][Full Text] [Related]
16. Prenatal magnetic resonance imaging in Gomez-Lopez-Hernandez syndrome and review of the literature.
Tan TY; McGillivray G; Goergen SK; White SM
Am J Med Genet A; 2005 Nov; 138(4):369-73. PubMed ID: 16158443
[TBL] [Abstract][Full Text] [Related]
17. De novo interstitial long arm deletion of chromosome 3 with facial dysmorphism, Dandy-Walker variant malformation and hydrocephalus.
Sudha T; Dawson AJ; Prasad AN; Konkin D; de Groot GW; Prasad C
Clin Dysmorphol; 2001 Jul; 10(3):193-6. PubMed ID: 11446413
[TBL] [Abstract][Full Text] [Related]
18. Multiple congenital malformations including severe eye anomalies and abnormal cerebellar development with Dandy-Walker malformation in a girl with partial trisomy 3q.
de Azevedo Moreira LM; Neri FB; de Quadros Uzeda S; de Carvalho AF; Santana GC; Souza FR; Rollemberg JC
Ophthalmic Genet; 2005 Mar; 26(1):37-43. PubMed ID: 15823924
[TBL] [Abstract][Full Text] [Related]
19. Long-read genome sequencing identifies cryptic structural variants in congenital aniridia cases.
Damián A; Núñez-Moreno G; Jubin C; Tamayo A; de Alba MR; Villaverde C; Fund C; Delépine M; Leduc A; Deleuze JF; Mínguez P; Ayuso C; Corton M
Hum Genomics; 2023 Jun; 17(1):45. PubMed ID: 37269011
[TBL] [Abstract][Full Text] [Related]
20. Roles of ZIC family genes in human gastric cancer.
Ma G; Dai W; Sang A; Yang X; Li Q
Int J Mol Med; 2016 Jul; 38(1):259-66. PubMed ID: 27177248
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]