Dahl N - Search Results

1

Hemizygosity for chromosome 2q14.2-q22.1 spanning the GLI2 and PROC genes associated with growth hormone deficiency, polydactyly, deep vein thrombosis and urogenital abnormalities.

Gustavsson P, Schoumans J, Staaf J, Jönsson G, Carlsson F, Kristoffersson U, Borg A, Nordenskjöld M, Dahl N. Gustavsson P, et al. Among authors: dahl n. Clin Genet. 2006 May;69(5):441-3. doi: 10.1111/j.1399-0004.2006.00601.x. Clin Genet. 2006. PMID: 16650085 No abstract available.

2

A microdeletion syndrome due to a 3-Mb deletion on 19q13.2--Diamond-Blackfan anemia associated with macrocephaly, hypotonia, and psychomotor retardation.

Cario H, Bode H, Gustavsson P, Dahl N, Kohne E. Cario H, et al. Among authors: dahl n. Clin Genet. 1999 Jun;55(6):487-92. doi: 10.1034/j.1399-0004.1999.550616.x. Clin Genet. 1999. PMID: 10450869

3

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. Among authors: dahl n. 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.

4

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: dahl n. 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.

5

Screening for copy number alterations in loci associated with autism spectrum disorders by two-color multiplex ligation-dependent probe amplification.

Bremer A, Giacobini M, Nordenskjöld M, Brøndum-Nielsen K, Mansouri M, Dahl N, Anderlid B, Schoumans J. Bremer A, et al. Among authors: dahl n. Am J Med Genet B Neuropsychiatr Genet. 2010 Jan 5;153B(1):280-5. doi: 10.1002/ajmg.b.30954. Am J Med Genet B Neuropsychiatr Genet. 2010. PMID: 19319887

6

Characterization of the frequency of delta F508 mutation and CF haplotypes in Swedish families.

Anvret M, Stolpe L, Dahl N, Eiserman M, Nordenskjöld M, Starborg M, Johansson L. Anvret M, et al. Among authors: dahl n. Clin Genet. 1991 Mar;39(3):238-9. doi: 10.1111/j.1399-0004.1991.tb03019.x. Clin Genet. 1991. PMID: 1709843 No abstract available.

7

Moderate frequency of BRCA1 and BRCA2 germ-line mutations in Scandinavian familial breast cancer.

Håkansson S, Johannsson O, Johansson U, Sellberg G, Loman N, Gerdes AM, Holmberg E, Dahl N, Pandis N, Kristoffersson U, Olsson H, Borg A. Håkansson S, et al. Among authors: dahl n. Am J Hum Genet. 1997 May;60(5):1068-78. Am J Hum Genet. 1997. PMID: 9150154 Free PMC article.

8

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. Among authors: dahl n. Eur J Hum Genet. 1999 Jul;7(5):541-8. doi: 10.1038/sj.ejhg.5200320. Eur J Hum Genet. 1999. PMID: 10439959

9

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. Among authors: dahl n. Nat Genet. 1997 Aug;16(4):368-71. doi: 10.1038/ng0897-368. Nat Genet. 1997. PMID: 9241274

10

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

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