186 related articles for article (PubMed ID: 10805190)
1. Novel missense mutation in the L1 gene in a child with corpus callosum agenesis, retardation, adducted thumbs, spastic paraparesis, and hydrocephalus.
Sztriha L; Frossard P; Hofstra RM; Verlind E; Nork M
J Child Neurol; 2000 Apr; 15(4):239-43. PubMed ID: 10805190
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Genotype-phenotype correlation in L1 associated diseases.
Fransen E; Van Camp G; D'Hooge R; Vits L; Willems PJ
J Med Genet; 1998 May; 35(5):399-404. PubMed ID: 9610803
[TBL] [Abstract][Full Text] [Related]
4. L1-associated diseases: clinical geneticists divide, molecular geneticists unite.
Fransen E; Van Camp G; Vits L; Willems PJ
Hum Mol Genet; 1997; 6(10):1625-32. PubMed ID: 9300653
[TBL] [Abstract][Full Text] [Related]
5. Genetic and clinical aspects of X-linked hydrocephalus (L1 disease): Mutations in the L1CAM gene.
Weller S; Gärtner J
Hum Mutat; 2001; 18(1):1-12. PubMed ID: 11438988
[TBL] [Abstract][Full Text] [Related]
6. [X-linked hydrocephalus syndrome].
Okamoto N
Ryoikibetsu Shokogun Shirizu; 2000; (30 Pt 5):47-8. PubMed ID: 11057138
[No Abstract] [Full Text] [Related]
7. 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]
8. Cytoplasmic domain mutations of the L1 cell adhesion molecule reduce L1-ankyrin interactions.
Needham LK; Thelen K; Maness PF
J Neurosci; 2001 Mar; 21(5):1490-500. PubMed ID: 11222639
[TBL] [Abstract][Full Text] [Related]
9. The site of a missense mutation in the extracellular Ig or FN domains of L1CAM influences infant mortality and the severity of X linked hydrocephalus.
Michaelis RC; Du YZ; Schwartz CE
J Med Genet; 1998 Nov; 35(11):901-4. PubMed ID: 9832035
[TBL] [Abstract][Full Text] [Related]
10. Spectrum and detection rate of L1CAM mutations in isolated and familial cases with clinically suspected L1-disease.
Finckh U; Schröder J; Ressler B; Veske A; Gal A
Am J Med Genet; 2000 May; 92(1):40-6. PubMed ID: 10797421
[TBL] [Abstract][Full Text] [Related]
11. X-linked hydrocephalus: a novel missense mutation in the L1CAM gene.
Sztriha L; Vos YJ; Verlind E; Johansen J; Berg B
Pediatr Neurol; 2002 Oct; 27(4):293-6. PubMed ID: 12435569
[TBL] [Abstract][Full Text] [Related]
12. A silent mutation, C924T (G308G), in the L1CAM gene results in X linked hydrocephalus (HSAS).
Du YZ; Dickerson C; Aylsworth AS; Schwartz CE
J Med Genet; 1998 Jun; 35(6):456-62. PubMed ID: 9643285
[TBL] [Abstract][Full Text] [Related]
13. The clinical spectrum of mutations in L1, a neuronal cell adhesion molecule.
Fransen E; Vits L; Van Camp G; Willems PJ
Am J Med Genet; 1996 Jul; 64(1):73-7. PubMed ID: 8826452
[TBL] [Abstract][Full Text] [Related]
14. Evidence for somatic and germline mosaicism in CRASH syndrome.
Vits L; Chitayat D; Van Camp G; Holden JJ; Fransen E; Willems PJ
Hum Mutat; 1998; Suppl 1():S284-7. PubMed ID: 9452110
[No Abstract] [Full Text] [Related]
15. Abnormalities in neuronal process extension, hippocampal development, and the ventricular system of L1 knockout mice.
Demyanenko GP; Tsai AY; Maness PF
J Neurosci; 1999 Jun; 19(12):4907-20. PubMed ID: 10366625
[TBL] [Abstract][Full Text] [Related]
16. Hydrocephalus and intestinal aganglionosis: is L1CAM a modifier gene in Hirschsprung disease?
Parisi MA; Kapur RP; Neilson I; Hofstra RM; Holloway LW; Michaelis RC; Leppig KA
Am J Med Genet; 2002 Feb; 108(1):51-6. PubMed ID: 11857550
[TBL] [Abstract][Full Text] [Related]
17. Transvaginal sonographic detection of adducted thumbs, hydrocephalus, and agenesis of the corpus callosum at 22 postmenstrual weeks: the masa spectrum or L1 spectrum. A case report and review of the literature.
Timor-Tritsch IE; Monteagudo A; Haratz-Rubinstein N; Levine RU
Prenat Diagn; 1996 Jun; 16(6):543-8. PubMed ID: 8809896
[TBL] [Abstract][Full Text] [Related]
18. [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]
19. 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]
20. Severe hydrocephalus in L1-deficient mice.
Rolf B; Kutsche M; Bartsch U
Brain Res; 2001 Feb; 891(1-2):247-52. PubMed ID: 11164829
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
