Works matching IS 09646906 AND DT 2009 AND VI 18 AND IP 12

Results: 22

Large-scale analysis of exonized mammalian-wide interspersed repeats in primate genomes.
Published in:
Human Molecular Genetics, 2009, v. 18, n. 12, p. 2204, doi. 10.1093/hmg/ddp152
By:
- Lin, Lan;
- Jiang, Peng;
- Shen, Shihao;
- Sato, Seiko;
- Davidson, Beverly L.;
- Xing, Yi
Publication type:
Article
SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway.
Published in:
Human Molecular Genetics, 2009, v. 18, n. 12, p. 2257, doi. 10.1093/hmg/ddp161
By:
- Cliffe, Simon T.;
- Kramer, Jamie M.;
- Hussain, Khalid;
- Robben, Joris H.;
- de Jong, Eiko K.;
- de Brouwer, Arjan P.;
- Nibbeling, Esther;
- Kamsteeg, Erik-Jan;
- Wong, Melanie;
- Prendiville, Julie;
- James, Chela;
- Padidela, Raja;
- Becknell, Charlie;
- van Bokhoven, Hans;
- Deen, Peter M.T.;
- Hennekam, Raoul C.M.;
- Lindeman, Robert;
- Schenck, Annette;
- Roscioli, Tony;
- Buckley, Michael F.
Publication type:
Article
Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival.
Published in:
Human Molecular Genetics, 2009, v. 18, n. 12, p. 2149, doi. 10.1093/hmg/ddp148
By:
- Hucthagowder, Vishwanathan;
- Morava, Eva;
- Kornak, Uwe;
- Lefeber, Dirk J.;
- Fischer, Björn;
- Dimopoulou, Aikaterini;
- Aldinger, Annika;
- Choi, Jiwon;
- Davis, Elaine C.;
- Abuelo, Dianne N.;
- Adamowicz, Maciej;
- Al-Aama, Jumana;
- Basel-Vanagaite, Lina;
- Fernandez, Bridget;
- Greally, Marie T.;
- Gillessen-Kaesbach, Gabriele;
- Kayserili, Hulya;
- Lemyre, Emmanuelle;
- Tekin, Mustafa;
- Türkmen, Seval
Publication type:
Article
Gene therapy for retinitis pigmentosa and Leber congenital amaurosis caused by defects in AIPL1: effective rescue of mouse models of partial and complete Aipl1 deficiency using AAV2/2 and AAV2/8 vectors.
Published in:
Human Molecular Genetics, 2009, v. 18, n. 12, p. 2099, doi. 10.1093/hmg/ddp133
By:
- Tan, Mei Hong;
- Smith, Alexander J.;
- Pawlyk, Basil;
- Xu, Xiaoyun;
- Liu, Xiaoqing;
- Bainbridge, James B.;
- Basche, Mark;
- McIntosh, Jenny;
- Tran, Hoai Viet;
- Nathwani, Amit;
- Li, Tiansen;
- Ali, Robin R.
Publication type:
Article
Inverted duplications on acentric markers: mechanism of formation.
Published in:
Human Molecular Genetics, 2009, v. 18, n. 12, p. 2241, doi. 10.1093/hmg/ddp160
By:
- Murmann, Andrea E.;
- Conrad, Donald F.;
- Mashek, Heather;
- Curtis, Chris A.;
- Nicolae, Raluca I.;
- Ober, Carole;
- Schwartz, Stuart
Publication type:
Article
Association between invasive ovarian cancer susceptibility and 11 best candidate SNPs from breast cancer genome-wide association study.
Published in:
Human Molecular Genetics, 2009, v. 18, n. 12, p. 2297
By:
- Song, Honglin;
- Ramus, Susan J.;
- Kjaer, Susanne Krüger;
- DiCioccio, Richard A.;
- Chenevix-Trench, Georgia;
- Pearce, Celeste Leigh;
- Hogdall, Estrid;
- Whittemore, Alice S.;
- McGuire, Valerie;
- Hogdall, Claus;
- Blaakaer, Jan;
- Wu, Anna H.;
- Van Den Berg, David J.;
- Stram, Daniel O.;
- Menon, Usha;
- Gentry-Maharaj, Aleksandra;
- Jacobs, Ian J.;
- Webb, Penny M.;
- Beesley, Jonathan;
- Chen, Xiaoqing
Publication type:
Article
Astrocytic protection of spinal motor neurons but not cortical neurons against loss of Als2/alsin function.
Published in:
Human Molecular Genetics, 2009, v. 18, n. 12, p. 2127, doi. 10.1093/hmg/ddp136
By:
- Jacquier, A.;
- Bellouze, S.;
- Blanchard, S.;
- Bohl, D.;
- Haase, G.
Publication type:
Article
Human SCO2 is required for the synthesis of CO II and as a thiol-disulphide oxidoreductase for SCO1.
Published in:
Human Molecular Genetics, 2009, v. 18, n. 12, p. 2230, doi. 10.1093/hmg/ddp158
By:
- Leary, Scot C.;
- Sasarman, Florin;
- Nishimura, Tamiko;
- Shoubridge, Eric A.
Publication type:
Article
Loss of the imprinted snoRNA mbii-52 leads to increased 5htr2c pre-RNA editing and altered 5HT2CR-mediated behaviour.
Published in:
Human Molecular Genetics, 2009, v. 18, n. 12, p. 2140, doi. 10.1093/hmg/ddp137
By:
- Doe, Christine M.;
- Relkovic, Dinko;
- Garfield, Alastair S.;
- Dalley, Jeffrey W.;
- Theobald, David E.H.;
- Humby, Trevor;
- Wilkinson, Lawrence S.;
- Isles, Anthony R.
Publication type:
Article
A SMN missense mutation complements SMN2 restoring snRNPs and rescuing SMA mice.
Published in:
Human Molecular Genetics, 2009, v. 18, n. 12, p. 2215, doi. 10.1093/hmg/ddp157
By:
- Workman, Eileen;
- Saieva, Luciano;
- Carrel, Tessa L.;
- Crawford, Thomas O.;
- Liu, Don;
- Lutz, Cathleen;
- Beattie, Christine E.;
- Pellizzoni, Livio;
- Burghes, Arthur H.M.
Publication type:
Article
Genome-wide scan identifies CDH13 as a novel susceptibility locus contributing to blood pressure determination in two European populations.
Published in:
Human Molecular Genetics, 2009, v. 18, n. 12, p. 2288, doi. 10.1093/hmg/ddp135
By:
- Org, Elin;
- Eyheramendy, Susana;
- Juhanson, Peeter;
- Gieger, Christian;
- Lichtner, Peter;
- Klopp, Norman;
- Veldre, Gudrun;
- Döring, Angela;
- Viigimaa, Margus;
- Sõber, Siim;
- Tomberg, Kärt;
- Eckstein, Gertrud;
- Kelgo, Piret;
- Rebane, Tiina;
- Shaw-Hawkins, Sue;
- Howard, Philip;
- Onipinla, Abiodun;
- Dobson, Richard J.;
- Newhouse, Stephen J.;
- Brown, Morris
Publication type:
Article
Contents Page.
Published in:
Human Molecular Genetics, 2009, v. 18, n. 12, p. NP, doi. 10.1093/hmg/ddp197
Publication type:
Article
Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching.
Published in:
Human Molecular Genetics, 2009, v. 18, n. 12, p. 2188, doi. 10.1093/hmg/ddp151
By:
- Carvalho, Claudia M.B.;
- Zhang, Feng;
- Liu, Pengfei;
- Patel, Ankita;
- Sahoo, Trilochan;
- Bacino, Carlos A.;
- Shaw, Chad;
- Peacock, Sandra;
- Pursley, Amber;
- Tavyev, Y. Jane;
- Ramocki, Melissa B.;
- Nawara, Magdalena;
- Obersztyn, Ewa;
- Vianna-Morgante, Angela M.;
- Stankiewicz, Pawel;
- Zoghbi, Huda Y.;
- Cheung, Sau Wai;
- Lupski, James R.
Publication type:
Article
Editorial Board.
Published in:
Human Molecular Genetics, 2009, v. 18, n. 12, p. NP, doi. 10.1093/hmg/ddp199
Publication type:
Article
Cover Page.
Published in:
Human Molecular Genetics, 2009, v. 18, n. 12, p. NP, doi. 10.1093/hmg/ddp198
Publication type:
Article
Correlation of expression and methylation of imprinted genes with pluripotency of parthenogenetic embryonic stem cells.
Published in:
Human Molecular Genetics, 2009, v. 18, n. 12, p. 2177, doi. 10.1093/hmg/ddp150
By:
- Li, Chao;
- Chen, Zhisheng;
- Liu, Zhong;
- Huang, Junjiu;
- Zhang, Wei;
- Zhou, Lingjun;
- Keefe, David L.;
- Liu, Lin
Publication type:
Article
Biochemical and genetic evidence for a role of IGHMBP2 in the translational machinery.
Published in:
Human Molecular Genetics, 2009, v. 18, n. 12, p. 2115, doi. 10.1093/hmg/ddp134
By:
- de Planell-Saguer, Mariàngels;
- Schroeder, David G.;
- Rodicio, Maria Celina;
- Cox, Gregory A.;
- Mourelatos, Zissimos
Publication type:
Article
Loss of cone photoreceptors caused by chromophore depletion is partially prevented by the artificial chromophore pro-drug, 9-cis-retinyl acetate.
Published in:
Human Molecular Genetics, 2009, v. 18, n. 12, p. 2277, doi. 10.1093/hmg/ddp163
By:
- Maeda, Tadao;
- Cideciyan, Artur V.;
- Maeda, Akiko;
- Golczak, Marcin;
- Aleman, Tomas S.;
- Jacobson, Samuel G.;
- Palczewski, Krzysztof
Publication type:
Article
Subscription Page.
Published in:
Human Molecular Genetics, 2009, v. 18, n. 12, p. NP, doi. 10.1093/hmg/ddp200
Publication type:
Article
Integrated associations of genotypes with multiple blood biomarkers linked to coronary heart disease risk.
Published in:
Human Molecular Genetics, 2009, v. 18, n. 12, p. 2305, doi. 10.1093/hmg/ddp159
By:
- Drenos, Fotios;
- Talmud, Philippa J.;
- Casas, Juan P.;
- Smeeth, Liam;
- Palmen, Jutta;
- Humphries, Steve E.;
- Hingorani, Aroon D.
Publication type:
Article
Defects in cell polarity underlie TSC and ADPKD-associated cystogenesis.
Published in:
Human Molecular Genetics, 2009, v. 18, n. 12, p. 2166, doi. 10.1093/hmg/ddp149
By:
- Bonnet, Cleo S.;
- Aldred, Mark;
- von Ruhland, Christopher;
- Harris, Rebecca;
- Sandford, Richard;
- Cheadle, Jeremy P.
Publication type:
Article
Five new TTF1/NKX2.1 mutations in brain–lung–thyroid syndrome: rescue by PAX8 synergism in one case.
Published in:
Human Molecular Genetics, 2009, v. 18, n. 12, p. 2266, doi. 10.1093/hmg/ddp162
By:
- Carré, Aurore;
- Szinnai, Gabor;
- Castanet, Mireille;
- Sura-Trueba, Sylvia;
- Tron, Elodie;
- Broutin-L’Hermite, Isabelle;
- Barat, Pascal;
- Goizet, Cyril;
- Lacombe, Didier;
- Moutard, Marie-Laure;
- Raybaud, Christine;
- Raynaud-Ravni, Catherine;
- Romana, Serge;
- Ythier, Hubert;
- Léger, Juliane;
- Polak, Michel
Publication type:
Article