Gustavsson P - Search Results

1

Padlock probes reveal single-nucleotide differences, parent of origin and in situ distribution of centromeric sequences in human chromosomes 13 and 21.

Nilsson M, Krejci K, Koch J, Kwiatkowski M, Gustavsson P, Landegren U. Nilsson M, et al. Among authors: gustavsson p. Nat Genet. 1997 Jul;16(3):252-5. doi: 10.1038/ng0797-252. Nat Genet. 1997. PMID: 9207789

2

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: gustavsson p. Nat Genet. 1999 Feb;21(2):169-75. doi: 10.1038/5951. Nat Genet. 1999. PMID: 9988267

3

Diamond-Blackfan anaemia: genetic homogeneity for a gene on chromosome 19q13 restricted to 1.8 Mb.

Gustavsson P, Willing TN, van Haeringen A, Tchernia G, Dianzani I, Donnér M, Elinder G, Henter JI, Nilsson PG, Gordon L, Skeppner G, van't Veer-Korthof L, Kreuger A, Dahl N. Gustavsson P, et al. Nat Genet. 1997 Aug;16(4):368-71. doi: 10.1038/ng0897-368. Nat Genet. 1997. PMID: 9241274

4

Diamond-Blackfan anaemia in a girl with a de novo balanced reciprocal X;19 translocation.

Gustavsson P, Skeppner G, Johansson B, Berg T, Gordon L, Kreuger A, Dahl N. Gustavsson P, et al. J Med Genet. 1997 Sep;34(9):779-82. doi: 10.1136/jmg.34.9.779. J Med Genet. 1997. PMID: 9321770 Free PMC article.

5

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. Among authors: gustavsson p. 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.

6

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. Am J Hum Genet. 1998 Nov;63(5):1388-95. doi: 10.1086/302100. Am J Hum Genet. 1998. PMID: 9792865 Free PMC article.

7

Linkage analysis identifies the thyroglobulin gene region as a major locus for familial congenital hypothyroidism.

Ahlbom BE, Yaqoob M, Gustavsson P, Abbas HG, Annerén G, Larsson A, Wadelius C. Ahlbom BE, et al. Among authors: gustavsson p. Hum Genet. 2002 Feb;110(2):145-7. doi: 10.1007/s00439-002-0680-z. Epub 2002 Jan 29. Hum Genet. 2002. PMID: 11935320

8

Loss of ZDHHC15 expression in a woman with a balanced translocation t(X;15)(q13.3;cen) and severe mental retardation.

Mansouri MR, Marklund L, Gustavsson P, Davey E, Carlsson B, Larsson C, White I, Gustavson KH, Dahl N. Mansouri MR, et al. Among authors: gustavsson p. Eur J Hum Genet. 2005 Aug;13(8):970-7. doi: 10.1038/sj.ejhg.5201445. Eur J Hum Genet. 2005. PMID: 15915161

9

Duplication 16q12.1-q22.1 characterized by array CGH in a girl with spina bifida.

Gustavsson P, Schoumans J, Staaf J, Borg A, Nordenskjöld M, Annerén G. Gustavsson P, et al. Eur J Med Genet. 2007 May-Jun;50(3):237-41. doi: 10.1016/j.ejmg.2007.01.004. Epub 2007 Feb 21. Eur J Med Genet. 2007. PMID: 17387046

10

Monosomy 18q syndrome and atypical Rett syndrome in a girl with an interstitial deletion (18)(q21.1q22.3).

Gustavsson P, Kimber E, Wahlström J, Annerén G. Gustavsson P, et al. Am J Med Genet. 1999 Feb 12;82(4):348-51. Am J Med Genet. 1999. PMID: 10051171

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