Pigg M - Search Results

1

Detailed genetic and physical mapping in the Sjögren-Larsson syndrome gene region in 17p11.2.

Sillén A, Alderborn A, Pigg M, Jagell S, Wadelius C. Sillén A, et al. Among authors: pigg m. Hereditas. 1998;128(3):245-50. doi: 10.1111/j.1601-5223.1998.00245.x. Hereditas. 1998. PMID: 9760873 Free article.

2

The Sjögren-Larsson syndrome gene is close to D17S805 as determined by linkage analysis and allelic association.

Pigg M, Jagell S, Sillén A, Weissenbach J, Gustavson KH, Wadelius C. Pigg M, et al. Nat Genet. 1994 Dec;8(4):361-4. doi: 10.1038/ng1294-361. Nat Genet. 1994. PMID: 7894487

3

Further evidence of genetic homogeneity in Sjögren-Larsson syndrome.

Pigg M, Annton-Lamprecht I, Braun-Quentin C, Gustavson KH, Wadelius C. Pigg M, et al. Acta Derm Venereol. 1999 Jan;79(1):41-3. doi: 10.1080/000155599750011688. Acta Derm Venereol. 1999. PMID: 10086857 Free article.

4

[From rune stones to genes. The cause of Sjögren-Larsson syndrome is encircled].

Gustavson KH, Jagell S, Pigg M, Wadelius C. Gustavson KH, et al. Among authors: pigg m. Lakartidningen. 1995 Jul 12;92(28-29):2748-50. Lakartidningen. 1995. PMID: 7637470 Swedish. No abstract available.

5

Linkage analysis in properdin deficiency families: refined location in proximal Xp.

Wadelius C, Pigg M, Sundvall M, Sjöholm AG, Goonewardena P, Kuijper EJ, Tijssen CC, Jansz A, Späth PJ, Schaad UB, et al. Wadelius C, et al. Among authors: pigg m. Clin Genet. 1992 Jul;42(1):8-12. doi: 10.1111/j.1399-0004.1992.tb03126.x. Clin Genet. 1992. PMID: 1516231

6

Hemophilia B in a 46,XX female probably caused by non-random X inactivation.

Wadelius C, Lindstedt M, Pigg M, Egberg N, Pettersson U, Anvret M. Wadelius C, et al. Among authors: pigg m. Clin Genet. 1993 Jan;43(1):1-4. doi: 10.1111/j.1399-0004.1993.tb04415.x. Clin Genet. 1993. PMID: 8096443

7

Haplotype association and mutation analysis of the transglutaminase 1 gene for prenatal exclusion of lamellar ichthyosis.

Pigg M, Gedde-Dahl T Jr, Cox DW, Haugen G, Dahl N. Pigg M, et al. Prenat Diagn. 2000 Feb;20(2):132-7. doi: 10.1002/(sici)1097-0223(200002)20:2<132::aid-pd765>3.0.co;2-0. Prenat Diagn. 2000. PMID: 10694685

8

Strong founder effect for a transglutaminase 1 gene mutation in lamellar ichthyosis and congenital ichthyosiform erythroderma from Norway.

Pigg M, Gedde-Dahl T Jr, Cox D, Hausser I, Anton-Lamprecht I, Dahl N. Pigg M, et al. Eur J Hum Genet. 1998 Nov-Dec;6(6):589-96. doi: 10.1038/sj.ejhg.5200224. Eur J Hum Genet. 1998. PMID: 9887377

9

Congenital ichthyosis: mutations in ichthyin are associated with specific structural abnormalities in the granular layer of epidermis.

Dahlqvist J, Klar J, Hausser I, Anton-Lamprecht I, Pigg MH, Gedde-Dahl T Jr, Gånemo A, Vahlquist A, Dahl N. Dahlqvist J, et al. Among authors: pigg mh. J Med Genet. 2007 Oct;44(10):615-20. doi: 10.1136/jmg.2007.050542. Epub 2007 Jun 8. J Med Genet. 2007. PMID: 17557927 Free PMC article.

10

Missense mutations in the human glutathione synthetase gene result in severe metabolic acidosis, 5-oxoprolinuria, hemolytic anemia and neurological dysfunction.

Dahl N, Pigg M, Ristoff E, Gali R, Carlsson B, Mannervik B, Larsson A, Board P. Dahl N, et al. Among authors: pigg m. Hum Mol Genet. 1997 Jul;6(7):1147-52. doi: 10.1093/hmg/6.7.1147. Hum Mol Genet. 1997. PMID: 9215686

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