1 - 25 of 80 results for author:"Cooper D.N." in Literature citations
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| The yak genome and adaptation to life at high altitude. Qiu Q., Zhang G., Ma T., Qian W., Wang J., Ye Z., Cao C., Hu Q., Kim J., Larkin D.M. et al. Nat. Genet. 44:946-949(2012) · UniProtKB (18,564) |
| Dissecting the clinical phenotype associated with mosaic type-2 NF1 microdeletions. Kehrer-Sawatzki H., Vogt J., Mussotter T., Kluwe L., Cooper D.N., Mautner V.F. Neurogenetics 13:229-236(2012) · Mapped (10) |
| Tissue-specific differences in the proportion of mosaic large NF1 deletions are suggestive of a selective growth advantage of hematopoietic del(+/-) stem cells. Roehl A.C., Mussotter T., Cooper D.N., Kluwe L., Wimmer K., Hogel J., Zetzmann M., Vogt J., Mautner V.F., Kehrer-Sawatzki H. Hum. Mutat. 33:541-550(2012) · Mapped (10) |
| Exploring the somatic NF1 mutational spectrum associated with NF1 cutaneous neurofibromas. Thomas L., Spurlock G., Eudall C., Thomas N.S., Mort M., Hamby S.E., Chuzhanova N., Brems H., Legius E., Cooper D.N. et al. Eur. J. Hum. Genet. 20:411-419(2012) · UniProtKB (1) · Mapped (9) |
| Genome sequencing and comparison of two nonhuman primate animal models, the cynomolgus and Chinese rhesus macaques. Yan G., Zhang G., Fang X., Zhang Y., Li C., Ling F., Cooper D.N., Li Q., Li Y., van Gool A.J. et al. Nat. Biotechnol. 29:1019-1023(2011) · UniProtKB (35,138) |
| Molecular genetic analysis of the PLP1 gene in 38 families with PLP1-related disorders: identification and functional characterization of 11 novel PLP1 mutations. Grossi S., Regis S., Biancheri R., Mort M., Lualdi S., Bertini E., Uziel G., Boespflug-Tanguy O., Simonati A., Corsolini F. et al. Orphanet J Rare Dis 6:40-40(2011) · Mapped (13) |
| Assessing the pathological relevance of SPINK1 promoter variants. Boulling A., Witt H., Chandak G.R., Masson E., Paliwal S., Bhaskar S., Reddy D.N., Cooper D.N., Chen J.M., Ferec C. Eur. J. Hum. Genet. 19:1066-1073(2011) · Mapped (1) |
| IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel alpha-L-iduronidase (IDUA) alleles. Bertola F., Filocamo M., Casati G., Mort M., Rosano C., Tylki-Szymanska A., Tuysuz B., Gabrielli O., Grossi S., Scarpa M. et al. Hum. Mutat. 32:E2189-E2210(2011) · UniProtKB (1) · Mapped (6) |
| Mosaic type-1 NF1 microdeletions as a cause of both generalized and segmental neurofibromatosis type-1 (NF1). Messiaen L., Vogt J., Bengesser K., Fu C., Mikhail F., Serra E., Garcia-Linares C., Cooper D.N., Lazaro C., Kehrer-Sawatzki H. Hum. Mutat. 32:213-219(2011) · Mapped (10) |
| Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease. Tappino B., Biancheri R., Mort M., Regis S., Corsolini F., Rossi A., Stroppiano M., Lualdi S., Fiumara A., Bembi B. et al. Hum. Mutat. 31:E1894-E1914(2010) · UniProtKB (1) |
| Intrachromosomal mitotic nonallelic homologous recombination is the major molecular mechanism underlying type-2 NF1 deletions. Roehl A.C., Vogt J., Mussotter T., Zickler A.N., Spoti H., Hogel J., Chuzhanova N.A., Wimmer K., Kluwe L., Mautner V.F. et al. Hum. Mutat. 31:1163-1173(2010) · Mapped (10) |
| Characterisation of a functional intronic polymorphism in the human growth hormone (GH1) gene. Millar D.S., Horan M., Chuzhanova N.A., Cooper D.N. Hum. Genomics 4:289-301(2010) · Mapped (7) |
| Clinical characterisation of 29 neurofibromatosis type-1 patients with molecularly ascertained 1.4 Mb type-1 NF1 deletions. Mautner V.F., Kluwe L., Friedrich R.E., Roehl A.C., Bammert S., Hogel J., Spori H., Cooper D.N., Kehrer-Sawatzki H. J. Med. Genet. 47:623-630(2010) · Mapped (10) |
| Enigmatic in vivo iduronate-2-sulfatase (IDS) mutant transcript correction to wild-type in Hunter syndrome. Lualdi S., Tappino B., Di Duca M., Dardis A., Anderson C.J., Biassoni R., Thompson P.W., Corsolini F., Di Rocco M., Bembi B. et al. Hum. Mutat. 31:E1261-85(2010) · Mapped (6) |
| Complete ascertainment of intragenic copy number mutations (CNMs) in the CFTR gene and its implications for CNM formation at other autosomal loci. Quemener S., Chen J.M., Chuzhanova N., Benech C., Casals T., Macek M. Jr., Bienvenu T., McDevitt T., Farrell P.M., Loumi O. et al. Hum. Mutat. 31:421-428(2010) · Mapped (45) |
| Extended runs of homozygosity at 17q11.2: an association with type-2 NF1 deletions? Roehl A.C., Cooper D.N., Kluwe L., Helbrich A., Wimmer K., Hogel J., Mautner V.F., Kehrer-Sawatzki H. Hum. Mutat. 31:325-334(2010) · Mapped (10) |
| Molecular characterization of 22 novel UDP-N-acetylglucosamine-1-phosphate transferase alpha- and beta-subunit (GNPTAB) gene mutations causing mucolipidosis types IIalpha/beta and IIIalpha/beta in 46 patients. Tappino B., Chuzhanova N.A., Regis S., Dardis A., Corsolini F., Stroppiano M., Tonoli E., Beccari T., Rosano C., Mucha J. et al. |
| Identification and molecular characterization of six novel mutations in the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTG) gene in patients with mucolipidosis III gamma. Persichetti E., Chuzhanova N.A., Dardis A., Tappino B., Pohl S., Thomas N.S., Rosano C., Balducci C., Paciotti S., Dominissini S. et al. Hum. Mutat. 30:978-984(2009) · Mapped (3) |
| Splicing factor SFRS1 recognizes a functionally diverse landscape of RNA transcripts. Sanford J.R., Wang X., Mort M., Vanduyn N., Cooper D.N., Mooney S.D., Edenberg H.J., Liu Y. Genome Res. 19:381-394(2009) · Mapped (6) |
| Growth hormone (GH1) gene variation and the growth hormone receptor (GHR) exon 3 deletion polymorphism in a West-African population. Millar D.S., Lewis M.D., Horan M., Newsway V., Rees D.A., Easter T.E., Pepe G., Rickards O., Norin M., Scanlon M.F. et al. Mol. Cell. Endocrinol. 296:18-25(2008) · Mapped (11) |
| A gene conversion hotspot in the human growth hormone (GH1) gene promoter. Wolf A., Millar D.S., Caliebe A., Horan M., Newsway V., Kumpf D., Steinmann K., Chee I.S., Lee Y.H., Mutirangura A. et al. Hum. Mutat. 30:239-247(2009) · Mapped (7) |
| Mosaicism in sporadic neurofibromatosis type 1: variations on a theme common to other hereditary cancer syndromes? Kehrer-Sawatzki H., Cooper D.N. J. Med. Genet. 45:622-631(2008) · Mapped (10) |
| Copy number variations in the NF1 gene region are infrequent and do not predispose to recurrent type-1 deletions. Steinmann K., Kluwe L., Cooper D.N., Brems H., De Raedt T., Legius E., Mautner V.F., Kehrer-Sawatzki H. Eur. J. Hum. Genet. 16:572-580(2008) · Mapped (10) |
| Type 2 NF1 deletions are highly unusual by virtue of the absence of nonallelic homologous recombination hotspots and an apparent preference for female mitotic recombination. Steinmann K., Cooper D.N., Kluwe L., Chuzhanova N.A., Senger C., Serra E., Lazaro C., Gilaberte M., Wimmer K., Mautner V.F. et al. Am. J. Hum. Genet. 81:1201-1220(2007) · Mapped (10) |
| Co-inheritance of a novel deletion of the entire SPINK1 gene with a CFTR missense mutation (L997F) in a family with chronic pancreatitis. Masson E., Le Marechal C., Levy P., Chuzhanova N., Ruszniewski P., Cooper D.N., Chen J.M., Ferec C. Mol. Genet. Metab. 92:168-175(2007) · Mapped (1) |