Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

My NCBI Filters
Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1998 1
2000 2
2001 1
2002 1
2003 2
2022 0
Text availability
Article attribute
Article type
Publication date

Search Results

7 results
Results by year
Filters applied: . Clear all
Page 1
Describing the phenotype in Rett syndrome using a population database.
Colvin L, Fyfe S, Leonard S, Schiavello T, Ellaway C, De Klerk N, Christodoulou J, Msall M, Leonard H. Colvin L, et al. Among authors: schiavello t. Arch Dis Child. 2003 Jan;88(1):38-43. doi: 10.1136/adc.88.1.38. Arch Dis Child. 2003. PMID: 12495959 Free PMC article.
Patients with the R133C mutation: is their phenotype different from patients with Rett syndrome with other mutations?
Leonard H, Colvin L, Christodoulou J, Schiavello T, Williamson S, Davis M, Ravine D, Fyfe S, de Klerk N, Matsuishi T, Kondo I, Clarke A, Hackwell S, Yamashita Y. Leonard H, et al. Among authors: schiavello t. J Med Genet. 2003 May;40(5):e52. doi: 10.1136/jmg.40.5.e52. J Med Genet. 2003. PMID: 12746406 Free PMC article. No abstract available.
Angiotensin-converting enzyme activity and the ACE Alu polymorphism in autosomal dominant polycystic kidney disease.
Schiavello T, Burke V, Bogdanova N, Jasik P, Melsom S, Boudville N, Robertson K, Angelicheva D, Dworniczak B, Lemmens M, Horst J, Todorov V, Dimitrakov D, Sulowicz W, Krasniak A, Stompor T, Beilin L, Hallmayer J, Kalaydjieva L, Thomas M. Schiavello T, et al. Nephrol Dial Transplant. 2001 Dec;16(12):2323-7. doi: 10.1093/ndt/16.12.2323. Nephrol Dial Transplant. 2001. PMID: 11733623
Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in russian charcot-marie-tooth neuropathy patients; irina V. Mersiyanova, sookhrat M. Ismailov, alexandr V. Polyakov, elena L. Dadali, valeriy P. Fedotov, eva nelis, ann Lofgren, vincent timmerman, christine van broeckhoven, and oleg V. Evgrafov (Article was originally published in human mutation 15:340-347, 2000).
Bogdanova N, McCluskey M, Sikmann K, Markoff A, Todorov V V, Dimitrakov D, Schiavello T, Thomas M, Kalaydjieva L, Dworniczak B, Horst J. Bogdanova N, et al. Among authors: schiavello t. Hum Mutat. 2000;16(2):175. doi: 10.1002/1098-1004(200008)16:2<175::AID-HUMU10>3.0.CO;2-N. Hum Mutat. 2000. PMID: 10923039
Screening the 3' region of the polycystic kidney disease 1 (PKD1) gene in 41 Bulgarian and Australian kindreds reveals a prevalence of protein truncating mutations.
Bogdanova N, McCluskey M, Sikmann K, Markoff A, Todorov V, Dimitrakov D, Schiavello T, Thomas M, Kalaydjieva L, Dworniczak B, Horst J. Bogdanova N, et al. Among authors: schiavello t. Hum Mutat. 2000;16(2):166-74. doi: 10.1002/1098-1004(200008)16:2<166::AID-HUMU9>3.0.CO;2-4. Hum Mutat. 2000. PMID: 10923038