| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Y Z Du, C Dickerson, A S Aylsworth, C E Schwart. A silent mutation, C924T (G308G), in the L1CAM gene results in X linked hydrocephalus (HSAS). Journal of medical genetics. vol 35. issue 6. 1998-08-14. PMID:9643285. |
a silent mutation, c924t (g308g), in the l1cam gene results in x linked hydrocephalus (hsas). |
1998-08-14 |
2023-08-12 |
human |
| Y Z Du, C Dickerson, A S Aylsworth, C E Schwart. A silent mutation, C924T (G308G), in the L1CAM gene results in X linked hydrocephalus (HSAS). Journal of medical genetics. vol 35. issue 6. 1998-08-14. PMID:9643285. |
mutations in l1cam are known to cause several clinically overlapping x linked mental retardation conditions: x linked hydrocephalus (hsas), masa syndrome (mental retardation, aphasia, shuffling gait, adducted thumbs), spastic paraplegia type i (spg1), and x linked agenesis of the corpus callosum (acc). |
1998-08-14 |
2023-08-12 |
human |
| Y Z Du, A K Srivastava, C E Schwart. Multiple exon screening using restriction endonuclease fingerprinting (REF): detection of six novel mutations in the L1 cell adhesion molecule (L1CAM) gene. Human mutation. vol 11. issue 3. 1998-04-29. PMID:9521424. |
using this method we have identified 6 novel mutations in the l1cam gene in 5 patients with x-linked hydrocephalus and 2 patients with masa. |
1998-04-29 |
2023-08-12 |
Not clear |
| J S Du, L Bason, H Woffendin, E Zackai, S Kenwric. Somatic and germ line mosaicism and mutation origin for a mutation in the L1 gene in a family with X-linked hydrocephalus. American journal of medical genetics. vol 75. issue 2. 1998-03-24. PMID:9450886. |
x-linked hydrocephalus is caused by mutations in the gene for neural cell adhesion molecule l1 (l1cam). |
1998-03-24 |
2023-08-12 |
Not clear |
| S Takahashi, Y Makita, N Okamoto, A Miyamoto, J Ok. L1CAM mutation in a Japanese family with X-linked hydrocephalus: a study for genetic counseling. Brain & development. vol 19. issue 8. 1998-03-06. PMID:9440802. |
l1cam mutation in a japanese family with x-linked hydrocephalus: a study for genetic counseling. |
1998-03-06 |
2023-08-12 |
Not clear |
| S Takahashi, Y Makita, N Okamoto, A Miyamoto, J Ok. L1CAM mutation in a Japanese family with X-linked hydrocephalus: a study for genetic counseling. Brain & development. vol 19. issue 8. 1998-03-06. PMID:9440802. |
mutations in the gene encoding neural cell adhesion molecule l1 (l1cam) are involved in x-linked hydrocephalus (hsas, hydrocephalus due to stenosis of the aqueduct of sylvius), masa syndrome (mental retardation, aphasia, shuffling gait, and adducted thumbs), and spastic paraplegia type 1. |
1998-03-06 |
2023-08-12 |
Not clear |
| S M Gu, U Orth, M Zankl, J Schröder, A Ga. Molecular analysis of the L1CAM gene in patients with X-linked hydrocephalus demonstrates eight novel mutations and suggests non-allelic heterogeneity of the trait. American journal of medical genetics. vol 71. issue 3. 1997-11-14. PMID:9268105. |
molecular analysis of the l1cam gene in patients with x-linked hydrocephalus demonstrates eight novel mutations and suggests non-allelic heterogeneity of the trait. |
1997-11-14 |
2023-08-12 |
Not clear |
| S M Gu, U Orth, M Zankl, J Schröder, A Ga. Molecular analysis of the L1CAM gene in patients with X-linked hydrocephalus demonstrates eight novel mutations and suggests non-allelic heterogeneity of the trait. American journal of medical genetics. vol 71. issue 3. 1997-11-14. PMID:9268105. |
eight novel mutations were identified in the gene encoding l1cam, a neural cell adhesion protein, in patients/families with x-linked hydrocephalus (xhc) providing additional evidence for extreme allelic heterogeneity of the trait. |
1997-11-14 |
2023-08-12 |
Not clear |
| N Okamoto, Y Wada, M Got. Hydrocephalus and Hirschsprung's disease in a patient with a mutation of L1CAM. Journal of medical genetics. vol 34. issue 8. 1997-10-06. PMID:9279760. |
hydrocephalus and hirschsprung's disease in a patient with a mutation of l1cam. |
1997-10-06 |
2023-08-12 |
Not clear |
| N Okamoto, Y Wada, M Got. Hydrocephalus and Hirschsprung's disease in a patient with a mutation of L1CAM. Journal of medical genetics. vol 34. issue 8. 1997-10-06. PMID:9279760. |
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. |
1997-10-06 |
2023-08-12 |
Not clear |
| N Okamoto, Y Wada, M Got. Hydrocephalus and Hirschsprung's disease in a patient with a mutation of L1CAM. Journal of medical genetics. vol 34. issue 8. 1997-10-06. PMID:9279760. |
we describe a patient with x linked hydrocephalus and hirschsprung's disease (hscr) with a novel mutation in the l1cam gene. |
1997-10-06 |
2023-08-12 |
Not clear |
| N Okamoto, Y Wada, M Got. Hydrocephalus and Hirschsprung's disease in a patient with a mutation of L1CAM. Journal of medical genetics. vol 34. issue 8. 1997-10-06. PMID:9279760. |
although the disease phenotypes of this patient may well be independent, the alternative explanation that l1cam mutations may contribute to both phenotypes cannot be excluded in view of an earlier report on another patient with both x linked hydrocephalus and hscr. |
1997-10-06 |
2023-08-12 |
Not clear |
| S M Gu, U Orth, A Veske, H Enders, K Klunder, M Schlosser, W Engel, E Schwinger, A Ga. Five novel mutations in the L1CAM gene in families with X linked hydrocephalus. Journal of medical genetics. vol 33. issue 2. 1997-05-12. PMID:8929944. |
five novel mutations in the l1cam gene in families with x linked hydrocephalus. |
1997-05-12 |
2023-08-12 |
Not clear |
| S M Gu, U Orth, A Veske, H Enders, K Klunder, M Schlosser, W Engel, E Schwinger, A Ga. Five novel mutations in the L1CAM gene in families with X linked hydrocephalus. Journal of medical genetics. vol 33. issue 2. 1997-05-12. PMID:8929944. |
five novel mutations have been identified in the gene encoding l1cam, a neural cell adhesion protein, in families with x linked hydrocephalus (xhc). |
1997-05-12 |
2023-08-12 |
Not clear |
| N Okamoto, Y Wada, H Kawabata, S Ishikiriyama, S Takahash. A novel mutation in L1CAM gene in a Japanese patient with X-linked hydrocephalus. The Japanese journal of human genetics. vol 41. issue 4. 1997-05-08. PMID:9088116. |
a novel mutation in l1cam gene in a japanese patient with x-linked hydrocephalus. |
1997-05-08 |
2023-08-12 |
Not clear |
| N Okamoto, Y Wada, H Kawabata, S Ishikiriyama, S Takahash. A novel mutation in L1CAM gene in a Japanese patient with X-linked hydrocephalus. The Japanese journal of human genetics. vol 41. issue 4. 1997-05-08. PMID:9088116. |
abnormality of the l1cam gene is associated with x-linked recessive form of congenital hydrocephalus (hsas; hydrocephalus due to congenital stenosis of aqueduct of sylvius) and some allelic disorders. |
1997-05-08 |
2023-08-12 |
Not clear |
| S Izumoto, M Yamasaki, N Arita, S Hiraga, T Ohnishi, K Fujitani, S Sakoda, T Hayakaw. A new mutation of the L1CAM gene in an X-linked hydrocephalus family. Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery. vol 12. issue 12. 1997-04-22. PMID:9118141. |
a new mutation of the l1cam gene in an x-linked hydrocephalus family. |
1997-04-22 |
2023-08-12 |
Not clear |
| S Izumoto, M Yamasaki, N Arita, S Hiraga, T Ohnishi, K Fujitani, S Sakoda, T Hayakaw. A new mutation of the L1CAM gene in an X-linked hydrocephalus family. Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery. vol 12. issue 12. 1997-04-22. PMID:9118141. |
recently, 23 different mutations of the gene for the neural cell adhesion molecule, l1cam, located at chromosome region xq28, have been reported, 16 of which were detected in families with x-linked hydrocephalus. |
1997-04-22 |
2023-08-12 |
Not clear |
| S Izumoto, M Yamasaki, N Arita, S Hiraga, T Ohnishi, K Fujitani, S Sakoda, T Hayakaw. A new mutation of the L1CAM gene in an X-linked hydrocephalus family. Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery. vol 12. issue 12. 1997-04-22. PMID:9118141. |
we sequenced the coding region of the l1cam gene of patients from two different families with x-linked hydrocephalus and found a novel mutation at nucleotide residue 1963 in one family. |
1997-04-22 |
2023-08-12 |
Not clear |
| 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. |
a deletion of five nucleotides in the l1cam gene in a japanese family with x-linked hydrocephalus. |
1996-09-20 |
2023-08-12 |
Not clear |