Skovby F - Search Results

1

Enhanced maternal origin of the 22q11.2 deletion in velocardiofacial and DiGeorge syndromes.

Delio M, Guo T, McDonald-McGinn DM, Zackai E, Herman S, Kaminetzky M, Higgins AM, Coleman K, Chow C, Jalbrzikowski M, Bearden CE, Bailey A, Vangkilde A, Olsen L, Olesen C, Skovby F, Werge TM, Templin L, Busa T, Philip N, Swillen A, Vermeesch JR, Devriendt K, Schneider M, Dahoun S, Eliez S, Schoch K, Hooper SR, Shashi V, Samanich J, Marion R, van Amelsvoort T, Boot E, Klaassen P, Duijff SN, Vorstman J, Yuen T, Silversides C, Chow E, Bassett A, Frisch A, Weizman A, Gothelf D, Niarchou M, van den Bree M, Owen MJ, Suñer DH, Andreo JR, Armando M, Vicari S, Digilio MC, Auton A, Kates WR, Wang T, Shprintzen RJ, Emanuel BS, Morrow BE. Delio M, et al. Among authors: skovby f. Am J Hum Genet. 2013 Mar 7;92(3):439-47. doi: 10.1016/j.ajhg.2013.01.018. Epub 2013 Feb 28. Am J Hum Genet. 2013. PMID: 23453669 Free PMC article.

2

The Danish 22q11 research initiative.

Schmock H, Vangkilde A, Larsen KM, Fischer E, Birknow MR, Jepsen JR, Olesen C, Skovby F, Plessen KJ, Mørup M, Hulme O, Baaré WF, Didriksen M, Siebner HR, Werge T, Olsen L. Schmock H, et al. Among authors: skovby f. BMC Psychiatry. 2015 Sep 17;15:220. doi: 10.1186/s12888-015-0594-7. BMC Psychiatry. 2015. PMID: 26384214 Free PMC article.

3

[22q11 deletion syndrome].

Olesen C, Agergaard P, Boers M, Farholt S, Heilman CJ, Hvidkjaer L, Kristensen K, Lauritsen MB, Lunding J, Nielsen BW, Skovby F, Thrane N, Vogel I, Østergaard JR. Olesen C, et al. Among authors: skovby f. Ugeskr Laeger. 2010 Mar 29;172(13):1038-46. Ugeskr Laeger. 2010. PMID: 20350479 Review. Danish.

4

Linkage of a locus for carbohydrate-deficient glycoprotein syndrome type I (CDG1) to chromosome 16p, and linkage disequilibrium to microsatellite marker D16S406.

Martinsson T, Bjursell C, Stibler H, Kristiansson B, Skovby F, Jaeken J, Blennow G, Strömme P, Hanefeld F, Wahlström J. Martinsson T, et al. Among authors: skovby f. Hum Mol Genet. 1994 Nov;3(11):2037-42. Hum Mol Genet. 1994. PMID: 7874123

5

Phenotype and 244k array-CGH characterization of chromosome 13q deletions: an update of the phenotypic map of 13q21.1-qter.

Kirchhoff M, Bisgaard AM, Stoeva R, Dimitrov B, Gillessen-Kaesbach G, Fryns JP, Rose H, Grozdanova L, Ivanov I, Keymolen K, Fagerberg C, Tranebjaerg L, Skovby F, Stefanova M. Kirchhoff M, et al. Among authors: skovby f. Am J Med Genet A. 2009 May;149A(5):894-905. doi: 10.1002/ajmg.a.32814. Am J Med Genet A. 2009. PMID: 19363806

6

DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome.

White J, Mazzeu JF, Hoischen A, Jhangiani SN, Gambin T, Alcino MC, Penney S, Saraiva JM, Hove H, Skovby F, Kayserili H, Estrella E, Vulto-van Silfhout AT, Steehouwer M, Muzny DM, Sutton VR, Gibbs RA; Baylor-Hopkins Center for Mendelian Genomics; Lupski JR, Brunner HG, van Bon BW, Carvalho CM. White J, et al. Among authors: skovby f. Am J Hum Genet. 2015 Apr 2;96(4):612-22. doi: 10.1016/j.ajhg.2015.02.015. Epub 2015 Mar 26. Am J Hum Genet. 2015. PMID: 25817016 Free PMC article.

7

Investigation of deletions at 7q11.23 in 44 patients referred for Williams-Beuren syndrome, using FISH and four DNA polymorphisms.

Brøndum-Nielsen K, Beck B, Gyftodimou J, Hørlyk H, Liljenberg U, Petersen MB, Pedersen W, Petersen MB, Sand A, Skovby F, Stafanger G, Zetterqvist P, Tommerup N. Brøndum-Nielsen K, et al. Among authors: skovby f. Hum Genet. 1997 Jan;99(1):56-61. doi: 10.1007/s004390050311. Hum Genet. 1997. PMID: 9003495

8

Deletion of a Gly-Pro-Pro repeat in the pro alpha2(I) chain of procollagen I in a family with dominant osteogenesis imperfecta type IV.

Lund AM, Skovby F, Schwartz M. Lund AM, et al. Among authors: skovby f. Hum Genet. 1996 Mar;97(3):287-90. doi: 10.1007/BF02185755. Hum Genet. 1996. PMID: 8786065

9

Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome.

van Bokhoven H, Celli J, Kayserili H, van Beusekom E, Balci S, Brussel W, Skovby F, Kerr B, Percin EF, Akarsu N, Brunner HG. van Bokhoven H, et al. Among authors: skovby f. Nat Genet. 2000 Aug;25(4):423-6. doi: 10.1038/78113. Nat Genet. 2000. PMID: 10932187

10

The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome.

Santer R, Groth S, Kinner M, Dombrowski A, Berry GT, Brodehl J, Leonard JV, Moses S, Norgren S, Skovby F, Schneppenheim R, Steinmann B, Schaub J. Santer R, et al. Among authors: skovby f. Hum Genet. 2002 Jan;110(1):21-9. doi: 10.1007/s00439-001-0638-6. Epub 2001 Nov 17. Hum Genet. 2002. PMID: 11810292

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