| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| T Takechi, J Tohyama, T Kurashige, K Maruta, K Uyemura, T Ohi, S Matsukura, N Sakuragaw. A deletion of five nucleotides in the L1CAM gene in a Japanese family with X-linked hydrocephalus. Human genetics. vol 97. issue 3. 1996-09-20. PMID:8786080. |
the mutation identified herein is a novel l1cam mutation, which triggers hydrocephalus. |
1996-09-20 |
2023-08-12 |
Not clear |
| M Jouet, A Rosenthal, S Kenwric. Exon 2 of the gene for neural cell adhesion molecule L1 is alternatively spliced in B cells. Brain research. Molecular brain research. vol 30. issue 2. 1995-09-13. PMID:7637589. |
recently, we have shown that mutations in the gene encoding l1cam are responsible for three related neurological disorders including the most common form of inherited hydrocephalus. |
1995-09-13 |
2023-08-12 |
Not clear |
| E Fransen, C Schrander-Stumpel, L Vits, P Coucke, G Van Camp, P J Willem. X-linked hydrocephalus and MASA syndrome present in one family are due to a single missense mutation in exon 28 of the L1CAM gene. Human molecular genetics. vol 3. issue 12. 1995-04-13. PMID:7881431. |
x-linked hydrocephalus and masa syndrome present in one family are due to a single missense mutation in exon 28 of the l1cam gene. |
1995-04-13 |
2023-08-12 |
Not clear |
| M Jouet, A Rosenthal, G Armstrong, J MacFarlane, R Stevenson, J Paterson, A Metzenberg, V Ionasescu, K Temple, S Kenwric. X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene. Nature genetics. vol 7. issue 3. 1994-11-17. PMID:7920659. |
we have previously shown that x-linked hydrocephalus is caused by mutations in the gene for neural cell adhesion molecule l1 (l1cam), an axonal glycoprotein involved in neuronal migration and differentiation. |
1994-11-17 |
2023-08-12 |
Not clear |
| L Vits, G Van Camp, P Coucke, E Fransen, K De Boulle, E Reyniers, B Korn, A Poustka, G Wilson, C Schrander-Stumpe. MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM. Nature genetics. vol 7. issue 3. 1994-11-17. PMID:7920660. |
since it has been shown that x-linked hydrocephalus can be caused by mutations in l1cam, a neuronal cell adhesion molecule, we performed an l1cam mutation analysis in eight unrelated patients with masa syndrome. |
1994-11-17 |
2023-08-12 |
Not clear |
| L Vits, G Van Camp, P Coucke, E Fransen, K De Boulle, E Reyniers, B Korn, A Poustka, G Wilson, C Schrander-Stumpe. MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM. Nature genetics. vol 7. issue 3. 1994-11-17. PMID:7920660. |
l1cam, therefore, harbours mutations leading to either masa syndrome or hsas, and might be frequently implicated in x-linked mental retardation with or without hydrocephalus. |
1994-11-17 |
2023-08-12 |
Not clear |
| P Coucke, L Vits, G Van Camp, F Serville, S Lyonnet, S Kenwrick, A Rosenthal, M Wehnert, A Munnich, P J Willem. Identification of a 5' splice site mutation in intron 4 of the L1CAM gene in an X-linked hydrocephalus family. Human molecular genetics. vol 3. issue 4. 1994-09-27. PMID:8069317. |
identification of a 5' splice site mutation in intron 4 of the l1cam gene in an x-linked hydrocephalus family. |
1994-09-27 |
2023-08-12 |
Not clear |
| G Van Camp, L Vits, P Coucke, S Lyonnet, C Schrander-Stumpel, J Darby, J Holden, A Munnich, P J Willem. A duplication in the L1CAM gene associated with X-linked hydrocephalus. Nature genetics. vol 4. issue 4. 1993-11-05. PMID:8401593. |
a duplication in the l1cam gene associated with x-linked hydrocephalus. |
1993-11-05 |
2023-08-12 |
Not clear |
| G Van Camp, L Vits, P Coucke, S Lyonnet, C Schrander-Stumpel, J Darby, J Holden, A Munnich, P J Willem. A duplication in the L1CAM gene associated with X-linked hydrocephalus. Nature genetics. vol 4. issue 4. 1993-11-05. PMID:8401593. |
recently, a mutation in the gene for the neural cell adhesion molecule l1cam, located at chromosome xq28, was found in a family with x-linked hydrocephalus (hsas). |
1993-11-05 |
2023-08-12 |
Not clear |