216 related articles for article (PubMed ID: 26916325)
1. [X-linked hereditary spastic paraplegia due to mutation in the L1CAM gene: three cases reports of CRASH syndrome].
Muñoz A; Cabrera-López JC; Santana-Rodríguez A; Toledo-Bravo de Laguna L; Santana-Artiles A; Sebastián-García I
Rev Neurol; 2016 Mar; 62(5):218-22. PubMed ID: 26916325
[TBL] [Abstract][Full Text] [Related]
2. Three cases with L1 syndrome and two novel mutations in the L1CAM gene.
Marín R; Ley-Martos M; Gutiérrez G; Rodríguez-Sánchez F; Arroyo D; Mora-López F
Eur J Pediatr; 2015 Nov; 174(11):1541-4. PubMed ID: 25948108
[TBL] [Abstract][Full Text] [Related]
3. Clinical and genetic features of L1 syndrome patients: Definition of two novel mutations.
Isik E; Onay H; Atik T; Akgun B; Cogulu O; Ozkinay F
Clin Neurol Neurosurg; 2018 Sep; 172():20-23. PubMed ID: 29960101
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. 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]
6. 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]
7. Novel mutations in the L1CAM gene support the complexity of L1 syndrome.
Bertolin C; Boaretto F; Barbon G; Salviati L; Lapi E; Divizia MT; Garavelli L; Occhi G; Vazza G; Mostacciuolo ML
J Neurol Sci; 2010 Jul; 294(1-2):124-6. PubMed ID: 20447653
[TBL] [Abstract][Full Text] [Related]
8. Prenatal diagnosis in a family with X-linked hydrocephalus.
Panayi M; Gokhale D; Mansour S; Elles R
Prenat Diagn; 2005 Oct; 25(10):930-3. PubMed ID: 16088863
[TBL] [Abstract][Full Text] [Related]
9. Identical by descent L1CAM mutation in two apparently unrelated families with intellectual disability without L1 syndrome.
Shaw M; Yap TY; Henden L; Bahlo M; Gardner A; Kalscheuer VM; Haan E; Christie L; Hackett A; Gecz J
Eur J Med Genet; 2015; 58(6-7):364-8. PubMed ID: 25934484
[TBL] [Abstract][Full Text] [Related]
10. L1 Syndrome Prenatal Diagnosis Supplemented by Functional Analysis of One L1CAM Gene Missense Variant.
Wang P; Liao H; Wang Q; Xie H; Wang H; Yang M; Liu S
Reprod Sci; 2022 Mar; 29(3):768-780. PubMed ID: 34914080
[TBL] [Abstract][Full Text] [Related]
11. Prenatal diagnosis of X-linked hydrocephalus in a family with a novel mutation in L1CAM gene.
Ochando I; Vidal V; Gascón J; Acién M; Urbano A; Rueda J
J Obstet Gynaecol; 2016; 36(3):403-5. PubMed ID: 26471711
[No Abstract] [Full Text] [Related]
12. L1CAM mutation in a boy with hydrocephalus and duplex kidneys.
Liebau MC; Gal A; Superti-Furga A; Omran H; Pohl M
Pediatr Nephrol; 2007 Jul; 22(7):1058-61. PubMed ID: 17294222
[TBL] [Abstract][Full Text] [Related]
13. CRASH syndrome: clinical spectrum of corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraparesis and hydrocephalus due to mutations in one single gene, L1.
Fransen E; Lemmon V; Van Camp G; Vits L; Coucke P; Willems PJ
Eur J Hum Genet; 1995; 3(5):273-84. PubMed ID: 8556302
[TBL] [Abstract][Full Text] [Related]
14. CRASH syndrome: mutations in L1CAM correlate with severity of the disease.
Yamasaki M; Thompson P; Lemmon V
Neuropediatrics; 1997 Jun; 28(3):175-8. PubMed ID: 9266556
[TBL] [Abstract][Full Text] [Related]
15. Amelioration of the abnormal phenotype of a new L1 syndrome mouse mutation with L1 mimetics.
Loers G; Appel D; Lutz D; Congiu L; Kleene R; Hermans-Borgmeyer I; Schäfer MKE; Schachner M
FASEB J; 2021 Feb; 35(2):e21329. PubMed ID: 33484186
[TBL] [Abstract][Full Text] [Related]
16. A novel L1CAM mutation with L1 spectrum disorders.
Silan F; Ozdemir I; Lissens W
Prenat Diagn; 2005 Jan; 25(1):57-9. PubMed ID: 15662685
[TBL] [Abstract][Full Text] [Related]
17. CRASH syndrome: does it teach us about neurotrophic functions of cell adhesion molecules?
Zhang L
Neuroscientist; 2010 Aug; 16(4):470-4. PubMed ID: 20817921
[TBL] [Abstract][Full Text] [Related]
18. L1 syndrome diagnosis complemented with functional analysis of L1CAM variants located to the two N-terminal Ig-like domains.
Christaller WA; Vos Y; Gebre-Medhin S; Hofstra RM; Schäfer MK
Clin Genet; 2017 Jan; 91(1):115-120. PubMed ID: 26891472
[TBL] [Abstract][Full Text] [Related]
19. 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]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]