Format
Sort by

Send to:

Choose Destination

Results: 5

1.

Mutations in ZBTB20 cause Primrose syndrome.

Cordeddu V, Redeker B, Stellacci E, Jongejan A, Fragale A, Bradley TE, Anselmi M, Ciolfi A, Cecchetti S, Muto V, Bernardini L, Azage M, Carvalho DR, Espay AJ, Male A, Molin AM, Posmyk R, Battisti C, Casertano A, Melis D, van Kampen A, Baas F, Mannens MM, Bocchinfuso G, Stella L, Tartaglia M, Hennekam RC.

Nat Genet. 2014 Aug;46(8):815-7. doi: 10.1038/ng.3035. Epub 2014 Jul 13.

PMID:
25017102
2.

Genome-wide copy number variant discovery in dogs using the CanineHD genotyping array.

Molin AM, Berglund J, Webster MT, Lindblad-Toh K.

BMC Genomics. 2014 Mar 19;15:210. doi: 10.1186/1471-2164-15-210.

3.

Novel origins of copy number variation in the dog genome.

Berglund J, Nevalainen EM, Molin AM, Perloski M; LUPA Consortium, André C, Zody MC, Sharpe T, Hitte C, Lindblad-Toh K, Lohi H, Webster MT.

Genome Biol. 2012 Aug 23;13(8):R73. doi: 10.1186/gb-2012-13-8-r73.

4.

A complex genomic rearrangement involving the endothelin 3 locus causes dermal hyperpigmentation in the chicken.

Dorshorst B, Molin AM, Rubin CJ, Johansson AM, Strömstedt L, Pham MH, Chen CF, Hallböök F, Ashwell C, Andersson L.

PLoS Genet. 2011 Dec;7(12):e1002412. doi: 10.1371/journal.pgen.1002412. Epub 2011 Dec 22.

5.

A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features.

Molin AM, Andrieux J, Koolen DA, Malan V, Carella M, Colleaux L, Cormier-Daire V, David A, de Leeuw N, Delobel B, Duban-Bedu B, Fischetto R, Flinter F, Kjaergaard S, Kok F, Krepischi AC, Le Caignec C, Ogilvie CM, Maia S, Mathieu-Dramard M, Munnich A, Palumbo O, Papadia F, Pfundt R, Reardon W, Receveur A, Rio M, Ronsbro Darling L, Rosenberg C, Sá J, Vallee L, Vincent-Delorme C, Zelante L, Bondeson ML, Annerén G.

J Med Genet. 2012 Feb;49(2):104-9. doi: 10.1136/jmedgenet-2011-100534. Epub 2011 Dec 17.

Format
Sort by

Send to:

Choose Destination

Supplemental Content

Loading ...
Write to the Help Desk