187 related articles for article (PubMed ID: 31393094)
1. SLC12A ion transporter mutations in sporadic and familial human congenital hydrocephalus.
Jin SC; Furey CG; Zeng X; Allocco A; Nelson-Williams C; Dong W; Karimy JK; Wang K; Ma S; Delpire E; Kahle KT
Mol Genet Genomic Med; 2019 Sep; 7(9):e892. PubMed ID: 31393094
[TBL] [Abstract][Full Text] [Related]
2. Pathomechanistic characterization of two exonic L1CAM variants located in trans in an obligate carrier of X-linked hydrocephalus.
Marx M; Diestel S; Bozon M; Keglowich L; Drouot N; Bouché E; Frebourg T; Minz M; Saugier-Veber P; Castellani V; Schäfer MK
Neurogenetics; 2012 Feb; 13(1):49-59. PubMed ID: 22222883
[TBL] [Abstract][Full Text] [Related]
3. A new frameshift mutation in L1CAM producing X-linked hydrocephalus.
Kong W; Wang X; Zhao J; Kang M; Xi N; Li S
Mol Genet Genomic Med; 2020 Jan; 8(1):e1031. PubMed ID: 31756056
[TBL] [Abstract][Full Text] [Related]
4. A novel
Singh AK; Viviano S; Allington G; McGee S; Kiziltug E; Mekbib KY; Shohfi JP; Duy PQ; DeSpenza T; Furey CG; Reeves BC; Smith H; Ma S; Sousa AMM; Cherskov A; Allocco A; Nelson-Williams C; Haider S; Rizvi SRA; Alper SL; Sestan N; Shimelis H; Walsh LK; Lifton RP; Moreno-De-Luca A; Jin SC; Kruszka P; Deniz E; Kahle KT
medRxiv; 2023 Mar; ():. PubMed ID: 36993720
[TBL] [Abstract][Full Text] [Related]
5. A novel nonsense mutation in the L1CAM gene responsible for X-linked congenital hydrocephalus.
Guo D; Shi Y; Jian W; Fu Y; Yang H; Guo M; Yong W; Chen G; Deng H; Qin Y; Liao W; Yao R
J Gene Med; 2020 Jul; 22(7):e3180. PubMed ID: 32128973
[TBL] [Abstract][Full Text] [Related]
6. Hydrocephalus with Hirschsprung disease: severe end of X-linked hydrocephalus spectrum.
Takenouchi T; Nakazawa M; Kanemura Y; Shimozato S; Yamasaki M; Takahashi T; Kosaki K
Am J Med Genet A; 2012 Apr; 158A(4):812-5. PubMed ID: 22354677
[TBL] [Abstract][Full Text] [Related]
7. A novel SMARCC1 BAFopathy implicates neural progenitor epigenetic dysregulation in human hydrocephalus.
Singh AK; Allington G; Viviano S; McGee S; Kiziltug E; Ma S; Zhao S; Mekbib KY; Shohfi JP; Duy PQ; DeSpenza T; Furey CG; Reeves BC; Smith H; Sousa AMM; Cherskov A; Allocco A; Nelson-Williams C; Haider S; Rizvi SRA; Alper SL; Sestan N; Shimelis H; Walsh LK; Lifton RP; Moreno-De-Luca A; Jin SC; Kruszka P; Deniz E; Kahle KT
Brain; 2024 Apr; 147(4):1553-1570. PubMed ID: 38128548
[TBL] [Abstract][Full Text] [Related]
8. De Novo Mutation in Genes Regulating Neural Stem Cell Fate in Human Congenital Hydrocephalus.
Furey CG; Choi J; Jin SC; Zeng X; Timberlake AT; Nelson-Williams C; Mansuri MS; Lu Q; Duran D; Panchagnula S; Allocco A; Karimy JK; Khanna A; Gaillard JR; DeSpenza T; Antwi P; Loring E; Butler WE; Smith ER; Warf BC; Strahle JM; Limbrick DD; Storm PB; Heuer G; Jackson EM; Iskandar BJ; Johnston JM; Tikhonova I; Castaldi C; López-Giráldez F; Bjornson RD; Knight JR; Bilguvar K; Mane S; Alper SL; Haider S; Guclu B; Bayri Y; Sahin Y; Apuzzo MLJ; Duncan CC; DiLuna ML; Günel M; Lifton RP; Kahle KT
Neuron; 2018 Jul; 99(2):302-314.e4. PubMed ID: 29983323
[TBL] [Abstract][Full Text] [Related]
9. Compound heterozygous variants in the multiple PDZ domain protein (MPDZ) cause a case of mild non-progressive communicating hydrocephalus.
Al-Jezawi NK; Al-Shamsi AM; Suleiman J; Ben-Salem S; John A; Vijayan R; Ali BR; Al-Gazali L
BMC Med Genet; 2018 Mar; 19(1):34. PubMed ID: 29499638
[TBL] [Abstract][Full Text] [Related]
10. Neuropathological review of 138 cases genetically tested for X-linked hydrocephalus: evidence for closely related clinical entities of unknown molecular bases.
Adle-Biassette H; Saugier-Veber P; Fallet-Bianco C; Delezoide AL; Razavi F; Drouot N; Bazin A; Beaufrère AM; Bessières B; Blesson S; Bucourt M; Carles D; Devisme L; Dijoud F; Fabre B; Fernandez C; Gaillard D; Gonzales M; Jossic F; Joubert M; Laurent N; Leroy B; Loeuillet L; Loget P; Marcorelles P; Martinovic J; Perez MJ; Satge D; Sinico M; Tosi M; Benichou J; Gressens P; Frebourg T; Laquerrière A
Acta Neuropathol; 2013 Sep; 126(3):427-42. PubMed ID: 23820807
[TBL] [Abstract][Full Text] [Related]
11. Two novel pathogenic variants of L1CAM gene in two fetuses with isolated X‑linked hydrocephaly: A case report.
Xie B; Luo J; Lei Y; Yang Q; Li M; Yi S; Luo S; Wang J; Qin Z; Yang Z; Wei H; Fan X
Mol Med Rep; 2018 Dec; 18(6):5760-5764. PubMed ID: 30365056
[TBL] [Abstract][Full Text] [Related]
12. Association of X-linked hydrocephalus and Hirschsprung disease: report of a new patient with a mutation in the L1CAM gene.
Fernández RM; Núñez-Torres R; García-Díaz L; de Agustín JC; Antiñolo G; Borrego S
Am J Med Genet A; 2012 Apr; 158A(4):816-20. PubMed ID: 22344793
[TBL] [Abstract][Full Text] [Related]
13. Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalus.
Jin SC; Dong W; Kundishora AJ; Panchagnula S; Moreno-De-Luca A; Furey CG; Allocco AA; Walker RL; Nelson-Williams C; Smith H; Dunbar A; Conine S; Lu Q; Zeng X; Sierant MC; Knight JR; Sullivan W; Duy PQ; DeSpenza T; Reeves BC; Karimy JK; Marlier A; Castaldi C; Tikhonova IR; Li B; Peña HP; Broach JR; Kabachelor EM; Ssenyonga P; Hehnly C; Ge L; Keren B; Timberlake AT; Goto J; Mangano FT; Johnston JM; Butler WE; Warf BC; Smith ER; Schiff SJ; Limbrick DD; Heuer G; Jackson EM; Iskandar BJ; Mane S; Haider S; Guclu B; Bayri Y; Sahin Y; Duncan CC; Apuzzo MLJ; DiLuna ML; Hoffman EJ; Sestan N; Ment LR; Alper SL; Bilguvar K; Geschwind DH; Günel M; Lifton RP; Kahle KT
Nat Med; 2020 Nov; 26(11):1754-1765. PubMed ID: 33077954
[TBL] [Abstract][Full Text] [Related]
14. Genomics of human congenital hydrocephalus.
Kundishora AJ; Singh AK; Allington G; Duy PQ; Ryou J; Alper SL; Jin SC; Kahle KT
Childs Nerv Syst; 2021 Nov; 37(11):3325-3340. PubMed ID: 34232380
[TBL] [Abstract][Full Text] [Related]
15. X-linked partial corpus callosum agenesis with mild intellectual disability: identification of a novel L1CAM pathogenic variant.
Bousquet I; Bozon M; Castellani V; Touraine R; Piton A; Gérard B; Guibaud L; Sanlaville D; Edery P; Saugier-Veber P; Putoux A
Neurogenetics; 2021 Mar; 22(1):43-51. PubMed ID: 33415589
[TBL] [Abstract][Full Text] [Related]
16. L1CAM whole gene deletion in a child with L1 syndrome.
Chidsey BA; Baldwin EE; Toydemir R; Ahles L; Hanson H; Stevenson DA
Am J Med Genet A; 2014 Jun; 164A(6):1555-8. PubMed ID: 24668863
[TBL] [Abstract][Full Text] [Related]
17. Molecular mechanisms and neuroimaging criteria for severe L1 syndrome with X-linked hydrocephalus.
Kanemura Y; Okamoto N; Sakamoto H; Shofuda T; Kamiguchi H; Yamasaki M
J Neurosurg; 2006 Nov; 105(5 Suppl):403-12. PubMed ID: 17328266
[TBL] [Abstract][Full Text] [Related]
18. Prenatal molecular diagnosis of a severe type of L1 syndrome (X-linked hydrocephalus).
Yamasaki M; Nonaka M; Suzumori N; Nakamura H; Fujita H; Namba A; Kamei Y; Yamada T; Pooh RK; Tanemura M; Sudo N; Nagasaka M; Yoshioka E; Shofuda T; Kanemura Y
J Neurosurg Pediatr; 2011 Oct; 8(4):411-6. PubMed ID: 21961551
[TBL] [Abstract][Full Text] [Related]
19. A New Splicing Mutation in the L1CAM Gene Responsible for X-Linked Hydrocephalus (HSAS).
Ferese R; Zampatti S; Griguoli AM; Fornai F; Giardina E; Barrano G; Albano V; Campopiano R; Scala S; Novelli G; Gambardella S
J Mol Neurosci; 2016 Jul; 59(3):376-81. PubMed ID: 27207492
[TBL] [Abstract][Full Text] [Related]
20. L1CAM mutations in three fetuses diagnosed by medical exome sequencing.
Li YT; Chen JS; Jian W; He YD; Li N; Xie YN; Wang J; Zhang VW; Huang WR; Jiang FM; Ye XQ; Chen DJ; Chen M
Taiwan J Obstet Gynecol; 2020 May; 59(3):451-455. PubMed ID: 32416898
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
