Tentler D - Search Results

1

Deletion including the oligophrenin-1 gene associated with enlarged cerebral ventricles, cerebellar hypoplasia, seizures and ataxia.

Tentler D, Gustavsson P, Leisti J, Schueler M, Chelly J, Timonen E, Annerén G, Willard HF, Dahl N. Tentler D, et al. Eur J Hum Genet. 1999 Jul;7(5):541-8. doi: 10.1038/sj.ejhg.5200320. Eur J Hum Genet. 1999. PMID: 10439959

2

A microdeletion in 19q13.2 associated with mental retardation, skeletal malformations, and Diamond-Blackfan anaemia suggests a novel contiguous gene syndrome.

Tentler D, Gustavsson P, Elinder G, Eklöf O, Gordon L, Mandel A, Dahl N. Tentler D, et al. J Med Genet. 2000 Feb;37(2):128-31. doi: 10.1136/jmg.37.2.128. J Med Genet. 2000. PMID: 10662814 Free PMC article.

3

A candidate region for Asperger syndrome defined by two 17p breakpoints.

Tentler D, Johannesson T, Johansson M, Råstam M, Gillberg C, Orsmark C, Carlsson B, Wahlström J, Dahl N. Tentler D, et al. Eur J Hum Genet. 2003 Feb;11(2):189-95. doi: 10.1038/sj.ejhg.5200939. Eur J Hum Genet. 2003. PMID: 12634868

4

Identification of microdeletions spanning the Diamond-Blackfan anemia locus on 19q13 and evidence for genetic heterogeneity.

Gustavsson P, Garelli E, Draptchinskaia N, Ball S, Willig TN, Tentler D, Dianzani I, Punnett HH, Shafer FE, Cario H, Ramenghi U, Glomstein A, Pfeiffer RA, Goringe A, Olivieri NF, Smibert E, Tchernia G, Elinder G, Dahl N. Gustavsson P, et al. Among authors: tentler d. Am J Hum Genet. 1998 Nov;63(5):1388-95. doi: 10.1086/302100. Am J Hum Genet. 1998. PMID: 9792865 Free PMC article.

5

The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia.

Draptchinskaia N, Gustavsson P, Andersson B, Pettersson M, Willig TN, Dianzani I, Ball S, Tchernia G, Klar J, Matsson H, Tentler D, Mohandas N, Carlsson B, Dahl N. Draptchinskaia N, et al. Among authors: tentler d. Nat Genet. 1999 Feb;21(2):169-75. doi: 10.1038/5951. Nat Genet. 1999. PMID: 9988267

6

Large-insert clone/STS contigs in Xq11-q12, spanning deletions in patients with androgen insensitivity and mental retardation.

Schueler MG, Higgins AW, Nagaraja R, Tentler D, Dahl N, Gustashaw K, Willard HF. Schueler MG, et al. Among authors: tentler d. Genomics. 2000 May 15;66(1):104-9. doi: 10.1006/geno.2000.6180. Genomics. 2000. PMID: 10843811

7

A balanced reciprocal translocation t(5;7)(q14;q32) associated with autistic disorder: molecular analysis of the chromosome 7 breakpoint.

Tentler D, Brandberg G, Betancur C, Gillberg C, Annerén G, Orsmark C, Green ED, Carlsson B, Dahl N. Tentler D, et al. Am J Med Genet. 2001 Dec 8;105(8):729-36. doi: 10.1002/ajmg.1607. Am J Med Genet. 2001. PMID: 11803521 Free article.

8

Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human.

Laporte J, Blondeau F, Buj-Bello A, Tentler D, Kretz C, Dahl N, Mandel JL. Laporte J, et al. Among authors: tentler d. Hum Mol Genet. 1998 Oct;7(11):1703-12. doi: 10.1093/hmg/7.11.1703. Hum Mol Genet. 1998. PMID: 9736772

9

Assignment of the locus for ichthyosis prematurity syndrome to chromosome 9q33.3-34.13.

Klar J, Gedde-Dahl T Jr, Larsson M, Pigg M, Carlsson B, Tentler D, Vahlquist A, Dahl N. Klar J, et al. Among authors: tentler d. J Med Genet. 2004 Mar;41(3):208-12. doi: 10.1136/jmg.2003.012567. J Med Genet. 2004. PMID: 14985385 Free PMC article. No abstract available.

10

A regulatory polymorphism in PDCD1 is associated with susceptibility to systemic lupus erythematosus in humans.

Prokunina L, Castillejo-López C, Oberg F, Gunnarsson I, Berg L, Magnusson V, Brookes AJ, Tentler D, Kristjansdóttir H, Gröndal G, Bolstad AI, Svenungsson E, Lundberg I, Sturfelt G, Jönssen A, Truedsson L, Lima G, Alcocer-Varela J, Jonsson R, Gyllensten UB, Harley JB, Alarcón-Segovia D, Steinsson K, Alarcón-Riquelme ME. Prokunina L, et al. Among authors: tentler d. Nat Genet. 2002 Dec;32(4):666-9. doi: 10.1038/ng1020. Epub 2002 Oct 28. Nat Genet. 2002. PMID: 12402038

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