Dahl N - Search Results

1

A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome.

Delvallée C, Nicaise S, Antin M, Leuvrey AS, Nourisson E, Leitch CC, Kellaris G, Stoetzel C, Geoffroy V, Scheidecker S, Keren B, Depienne C, Klar J, Dahl N, Deleuze JF, Génin E, Redon R, Demurger F, Devriendt K, Mathieu-Dramard M, Poitou-Bernert C, Odent S, Katsanis N, Mandel JL, Davis EE, Dollfus H, Muller J. Delvallée C, et al. Among authors: dahl n. Clin Genet. 2021 Feb;99(2):318-324. doi: 10.1111/cge.13878. Epub 2020 Nov 14. Clin Genet. 2021. PMID: 33169370 Free PMC article.

2

Methylation and mutation patterns in the fragile X syndrome.

Malmgren H, Steén-Bondeson ML, Gustavson KH, Seémanova E, Holmgren G, Oberlé I, Mandel JL, Pettersson U, Dahl N. Malmgren H, et al. Among authors: dahl n. Am J Med Genet. 1992 Apr 15-May 1;43(1-2):268-78. doi: 10.1002/ajmg.1320430142. Am J Med Genet. 1992. PMID: 1605200

3

Genetic mapping of loci for X-linked retinitis pigmentosa.

Dahl N, Sundvall M, Pettersson U, Andréasson S, Anvret M, Kugelberg U, Hagbyhn-Gericke A, Goonewardena P. Dahl N, et al. Clin Genet. 1991 Dec;40(6):435-40. doi: 10.1111/j.1399-0004.1991.tb03115.x. Clin Genet. 1991. PMID: 1685699

4

The polymorphic marker DXS304 is within 5 centimorgans of the fragile X locus.

Vincent A, Dahl N, Oberlé I, Hanauer A, Mandel JL, Malmgren H, Pettersson U. Vincent A, et al. Among authors: dahl n. Genomics. 1989 Nov;5(4):797-801. doi: 10.1016/0888-7543(89)90121-3. Genomics. 1989. PMID: 2574147

5

Noonan syndrome with café-au-lait spots and multiple lentigines syndrome are not linked to the neurofibromatosis type 1 locus.

Ahlbom BE, Dahl N, Zetterqvist P, Annerén G. Ahlbom BE, et al. Among authors: dahl n. Clin Genet. 1995 Aug;48(2):85-9. doi: 10.1111/j.1399-0004.1995.tb04061.x. Clin Genet. 1995. PMID: 7586657

6

X linked myotubular myopathy (MTM1) maps between DXS304 and DXS305, closely linked to the DXS455 VNTR and a new, highly informative microsatellite marker (DXS1684).

Dahl N, Samson F, Thomas NS, Hu LJ, Gong W, Herman G, Laporte J, Kioschis P, Poustka A, Mandel JL. Dahl N, et al. J Med Genet. 1994 Dec;31(12):922-4. doi: 10.1136/jmg.31.12.922. J Med Genet. 1994. PMID: 7891372 Free PMC article.

7

A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast.

Laporte J, Hu LJ, Kretz C, Mandel JL, Kioschis P, Coy JF, Klauck SM, Poustka A, Dahl N. Laporte J, et al. Among authors: dahl n. Nat Genet. 1996 Jun;13(2):175-82. doi: 10.1038/ng0696-175. Nat Genet. 1996. PMID: 8640223

8

Deletions in Xq28 in two boys with myotubular myopathy and abnormal genital development define a new contiguous gene syndrome in a 430 kb region.

Hu LJ, Laporte J, Kress W, Kioschis P, Siebenhaar R, Poustka A, Fardeau M, Metzenberg A, Janssen EA, Thomas N, Mandel JL, Dahl N. Hu LJ, et al. Among authors: dahl n. Hum Mol Genet. 1996 Jan;5(1):139-43. doi: 10.1093/hmg/5.1.139. Hum Mol Genet. 1996. PMID: 8789451

9

Cloning and characterization of an alternatively spliced gene in proximal Xq28 deleted in two patients with intersexual genitalia and myotubular myopathy.

Laporte J, Kioschis P, Hu LJ, Kretz C, Carlsson B, Poustka A, Mandel JL, Dahl N. Laporte J, et al. Among authors: dahl n. Genomics. 1997 May 1;41(3):458-62. doi: 10.1006/geno.1997.4662. Genomics. 1997. PMID: 9169146

10

Mutations in the MTM1 gene implicated in X-linked myotubular myopathy. ENMC International Consortium on Myotubular Myopathy. European Neuro-Muscular Center.

Laporte J, Guiraud-Chaumeil C, Vincent MC, Mandel JL, Tanner SM, Liechti-Gallati S, Wallgren-Pettersson C, Dahl N, Kress W, Bolhuis PA, Fardeau M, Samson F, Bertini E. Laporte J, et al. Among authors: dahl n. Hum Mol Genet. 1997 Sep;6(9):1505-11. doi: 10.1093/hmg/6.9.1505. Hum Mol Genet. 1997. PMID: 9305655

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