Human molecular genetics

Impaired neural development in a zebrafish model for Lowe syndrome.

Human molecular genetics

Ramirez IB, Pietka G, Jones DR, Divecha N, Alia A, Baraban SC, Hurlstone AF, Lowe M

Identification of direct downstream targets of Dlx5 during early inner ear development.

Human molecular genetics

Sajan SA, Rubenstein JL, Warchol ME, Lovett M

Identification of direct downstream targets of Dlx5 during early inner ear development.

Human molecular genetics

Sajan SA, Rubenstein JL, Warchol ME, Lovett M

Shox2 mediates Tbx5 activity by regulating Bmp4 in the pacemaker region of the developing heart.

Human molecular genetics

Puskaric S, Schmitteckert S, Mori AD, Glaser A, Schneider KU, Bruneau BG, Blaschke RJ, Steinbeisser H, Rappold G

Shox2 mediates Tbx5 activity by regulating Bmp4 in the pacemaker region of the developing heart.

Human molecular genetics

Puskaric S, Schmitteckert S, Mori AD, Glaser A, Schneider KU, Bruneau BG, Blaschke RJ, Steinbeisser H, Rappold G

Extensive enteric nervous system abnormalities in mice transgenic for artificial chromosomes containing Parkinson disease-associated alpha-synuclein gene mutations precede central nervous system changes.

Human molecular genetics

Kuo YM, Li Z, Jiao Y, Gaborit N, Pani AK, Orrison BM, Bruneau BG, Giasson BI, Smeyne RJ, Gershon MD, Nussbaum RL

Extensive enteric nervous system abnormalities in mice transgenic for artificial chromosomes containing Parkinson disease-associated alpha-synuclein gene mutations precede central nervous system changes.

Human molecular genetics

Kuo YM, Li Z, Jiao Y, Gaborit N, Pani AK, Orrison BM, Bruneau BG, Giasson BI, Smeyne RJ, Gershon MD, Nussbaum RL

Association of functionally significant Melanocortin-4 but not Melanocortin-3 receptor mutations with severe adult obesity in a large North American case-control study.

Human molecular genetics

Calton MA, Ersoy BA, Zhang S, Kane JP, Malloy MJ, Pullinger CR, Bromberg Y, Pennacchio LA, Dent R, McPherson R, Ahituv N, Vaisse C

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