Search Page
Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Filters
Results by year
Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
1992 | 3 |
1993 | 1 |
2024 | 0 |
Search Results
4 results
Results by year
Filters applied: . Clear all
Page 1
Charcot-Marie-tooth disease 1A (CMT1A) associated with a maternal duplication of chromosome 17p11.2-->12.
Hum Genet. 1993 May;91(4):392-4. doi: 10.1007/BF00217365.
Hum Genet. 1993.
PMID: 8500795
De-novo mutation in hereditary motor and sensory neuropathy type I.
Hoogendijk JE, Hensels GW, Gabreëls-Festen AA, Gabreëls FJ, Janssen EA, de Jonghe P, Martin JJ, van Broeckhoven C, Valentijn LJ, Baas F, et al.
Hoogendijk JE, et al.
Lancet. 1992 May 2;339(8801):1081-2. doi: 10.1016/0140-6736(92)90668-s.
Lancet. 1992.
PMID: 1349106
Item in Clipboard
Charcot-Marie-Tooth disease type 1a (CMT1a): evidence for trisomy of the region p11.2 of chromosome 17 in south Wales families.
MacMillan JC, Upadhyaya M, Harper PS.
MacMillan JC, et al.
J Med Genet. 1992 Jan;29(1):12-3. doi: 10.1136/jmg.29.1.12.
J Med Genet. 1992.
PMID: 1552536
Free PMC article.
Item in Clipboard
Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A.
Lupski JR, Wise CA, Kuwano A, Pentao L, Parke JT, Glaze DG, Ledbetter DH, Greenberg F, Patel PI.
Lupski JR, et al.
Nat Genet. 1992 Apr;1(1):29-33. doi: 10.1038/ng0492-29.
Nat Genet. 1992.
PMID: 1301995
Item in Clipboard
Cite
Cite