All Relations between Hydrocephalus and l1cam

Publication Sentence Publish Date Extraction Date Species
David H Tegay, Andrew H Lane, Jasmin Roohi, Eli Hatchwel. Contiguous gene deletion involving L1CAM and AVPR2 causes X-linked hydrocephalus with nephrogenic diabetes insipidus. American journal of medical genetics. Part A. vol 143A. issue 6. 2007-05-08. PMID:17318848. x-linked hydrocephalus with aqueductal stenosis (hsas) is caused by mutation or deletion of the l1 cell adhesion molecule gene (l1cam) at xq28. 2007-05-08 2023-08-12 Not clear
Yonehiro Kanemura, Nobuhiko Okamoto, Hiroaki Sakamoto, Tomoko Shofuda, Hiroyuki Kamiguchi, Mami Yamasak. Molecular mechanisms and neuroimaging criteria for severe L1 syndrome with X-linked hydrocephalus. Journal of neurosurgery. vol 105. issue 5 Suppl. 2007-03-13. PMID:17328266. the authors report the results of a nationwide investigation of l1cam gene mutations that was performed to improve the understanding of l1-mediated molecular mechanisms of x-linked hydrocephalus and to establish neurorimaging criteria for this severe form of l1 syndrome. 2007-03-13 2023-08-12 human
Maria Panayi, David Gokhale, Sahar Mansour, Rob Elle. Prenatal diagnosis in a family with X-linked hydrocephalus. Prenatal diagnosis. vol 25. issue 10. 2006-01-06. PMID:16088863. mutations in the l1cam gene are responsible for four related l1 disorders; x-linked hydrocephalus/hsas (hydrocephalus as a result of stenosis of the aqueduct of sylvius), masa (mental retardation, aphasia, shuffling gait, and adducted thumbs) syndrome, x-linked complicated spastic paraplegia type i (spg1) and x-linked agenesis of the corpus callosum (acc). 2006-01-06 2023-08-12 Not clear
Fatma Silan, Ismail Ozdemir, Willy Lissen. A novel L1CAM mutation with L1 spectrum disorders. Prenatal diagnosis. vol 25. issue 1. 2005-04-26. PMID:15662685. x-linked hydrocephalus and associated phenotypes are due to mutations in the l1cam gene, which has been identified as a coding neural cell adhesion molecule. 2005-04-26 2023-08-12 Not clear
Christian A Hübner, Barbara Utermann, Sigrid Tinschert, Gabriele Krüger, Bernadette Ressler, Cordula Steglich, Albert Schinzel, Andreas Ga. Intronic mutations in the L1CAM gene may cause X-linked hydrocephalus by aberrant splicing. Human mutation. vol 23. issue 5. 2004-09-17. PMID:15108295. intronic mutations in the l1cam gene may cause x-linked hydrocephalus by aberrant splicing. 2004-09-17 2023-08-12 Not clear
Nobuhiko Okamoto, Rolando Del Maestro, Rebeca Valero, Eugenia Monros, Pilar Poo, Yonehiro Kanemura, Mami Yamasak. Hydrocephalus and Hirschsprung's disease with a mutation of L1CAM. Journal of human genetics. vol 49. issue 6. 2004-07-19. PMID:15148591. hydrocephalus and hirschsprung's disease with a mutation of l1cam. 2004-07-19 2023-08-12 Not clear
Nobuhiko Okamoto, Rolando Del Maestro, Rebeca Valero, Eugenia Monros, Pilar Poo, Yonehiro Kanemura, Mami Yamasak. Hydrocephalus and Hirschsprung's disease with a mutation of L1CAM. Journal of human genetics. vol 49. issue 6. 2004-07-19. PMID:15148591. abnormalities of the l1cam gene, a member of the immunoglobulin gene superfamily of neural-cell adhesion molecules, are associated with x-linked hydrocephalus and some allelic disorders. 2004-07-19 2023-08-12 Not clear
Nobuhiko Okamoto, Rolando Del Maestro, Rebeca Valero, Eugenia Monros, Pilar Poo, Yonehiro Kanemura, Mami Yamasak. Hydrocephalus and Hirschsprung's disease with a mutation of L1CAM. Journal of human genetics. vol 49. issue 6. 2004-07-19. PMID:15148591. there have been three reports of patients with x-linked hydrocephalus and hscr with a mutation in the l1cam gene. 2004-07-19 2023-08-12 Not clear
G Rodríguez Criado, A Pérez Aytés, F Martínez, Y J Vos, E Verlind, A González-Meneses López, I Gómez de Terreros Sánchez, C Schrander-Stumpe. X-linked hydrocephalus: another two families with an L1 mutation. Genetic counseling (Geneva, Switzerland). vol 14. issue 1. 2003-08-27. PMID:12725590. x-linked hydrocephalus is a variable condition caused by mutations in the gene encoding for l1cam. 2003-08-27 2023-08-12 Not clear
László Sztriha, Yvonne J Vos, Edwin Verlind, Johan Johansen, Bertel Ber. X-linked hydrocephalus: a novel missense mutation in the L1CAM gene. Pediatric neurology. vol 27. issue 4. 2003-01-30. PMID:12435569. x-linked hydrocephalus: a novel missense mutation in the l1cam gene. 2003-01-30 2023-08-12 Not clear
Piret Michelson, Christine Hartwig, Melitta Schachner, Andreas Gal, Andres Veske, Ulrich Finck. Missense mutations in the extracellular domain of the human neural cell adhesion molecule L1 reduce neurite outgrowth of murine cerebellar neurons. Human mutation. vol 20. issue 6. 2002-12-23. PMID:12442287. mutations in l1cam, the gene encoding the transmembrane multifunctional neuronal adhesion molecule l1, are associated with neurodevelopmental disorders including x-linked hydrocephalus and mental retardation. 2002-12-23 2023-08-12 human
Melissa A Parisi, Raj P Kapur, Ian Neilson, Robert M W Hofstra, Lynda W Holloway, Ron C Michaelis, Kathleen A Leppi. Hydrocephalus and intestinal aganglionosis: is L1CAM a modifier gene in Hirschsprung disease? American journal of medical genetics. vol 108. issue 1. 2002-08-02. PMID:11857550. hydrocephalus and intestinal aganglionosis: is l1cam a modifier gene in hirschsprung disease? 2002-08-02 2023-08-12 Not clear
Melissa A Parisi, Raj P Kapur, Ian Neilson, Robert M W Hofstra, Lynda W Holloway, Ron C Michaelis, Kathleen A Leppi. Hydrocephalus and intestinal aganglionosis: is L1CAM a modifier gene in Hirschsprung disease? American journal of medical genetics. vol 108. issue 1. 2002-08-02. PMID:11857550. congenital hydrocephalus associated with aqueductal stenosis and/or agenesis of the corpus callosum has been described in newborn males with mutations in l1cam, a gene that encodes a neural cell adhesion molecule. 2002-08-02 2023-08-12 Not clear
Melissa A Parisi, Raj P Kapur, Ian Neilson, Robert M W Hofstra, Lynda W Holloway, Ron C Michaelis, Kathleen A Leppi. Hydrocephalus and intestinal aganglionosis: is L1CAM a modifier gene in Hirschsprung disease? American journal of medical genetics. vol 108. issue 1. 2002-08-02. PMID:11857550. our patient represents the third example of coincident hydrocephalus and hirschsprung disease in an individual with an identified l1cam mutation. 2002-08-02 2023-08-12 Not clear
S Weller, J Gärtne. Genetic and clinical aspects of X-linked hydrocephalus (L1 disease): Mutations in the L1CAM gene. Human mutation. vol 18. issue 1. 2001-12-12. PMID:11438988. genetic and clinical aspects of x-linked hydrocephalus (l1 disease): mutations in the l1cam gene. 2001-12-12 2023-08-12 Not clear
U Finckh, J Schröder, B Ressler, A Veske, A Ga. Spectrum and detection rate of L1CAM mutations in isolated and familial cases with clinically suspected L1-disease. American journal of medical genetics. vol 92. issue 1. 2000-05-24. PMID:10797421. we screened 153 cases with prenatally or clinically suspected x-chromosomal hydrocephalus for l1cam mutations by sscp analysis of the 28 coding exons and regulatory elements in the 5'-untranslated region of the gene. 2000-05-24 2023-08-12 Not clear
U Finckh, J Schröder, B Ressler, A Veske, A Ga. Spectrum and detection rate of L1CAM mutations in isolated and familial cases with clinically suspected L1-disease. American journal of medical genetics. vol 92. issue 1. 2000-05-24. PMID:10797421. our data suggest a higher than previously assumed contribution of l1cam mutations in the pathogenesis of the heterogeneous group of congenital hydrocephalus. 2000-05-24 2023-08-12 Not clear
W D Graf, D E Born, D W Shaw, J R Thomas, L W Holloway, R C Michaeli. Diffusion-weighted magnetic resonance imaging in boys with neural cell adhesion molecule L1 mutations and congenital hydrocephalus. Annals of neurology. vol 47. issue 1. 2000-02-16. PMID:10632110. the phenotype of severe congenital hydrocephalus secondary to neural cell adhesion molecule l1 (l1cam) gene mutations includes the distinct finding of brainstem corticospinal tract hypoplasia. 2000-02-16 2023-08-12 Not clear
S Claes, T Aguirre, V Simosa, T Bustos, R Lander, M Piras, E Legius, J J Cassiman, P Raeymaeker. Hydrocephalus and spastic paraplegia result from a donor splice site mutation (2872 + 1G to A) in the L1CAM gene in a Venezuelan pedigree. Human mutation. vol Suppl 1. 1999-06-30. PMID:9452098. hydrocephalus and spastic paraplegia result from a donor splice site mutation (2872 + 1g to a) in the l1cam gene in a venezuelan pedigree. 1999-06-30 2023-08-12 Not clear
R C Michaelis, Y Z Du, C E Schwart. 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. Journal of medical genetics. vol 35. issue 11. 1999-02-04. PMID:9832035. 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. 1999-02-04 2023-08-12 Not clear