1 - 25 of 67 results for author:"Horn D." in Literature citations
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| Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: A study of the extensive clinical variability. Bisschoff I.J., Zeschnigk C., Horn D., Wellek B., Riess A., Wessels M., Willems P., Jensen P., Busche A., Bekkebraten J. et al. Hum. Mutat. 34:237-247(2013) · UniProtKB (1) |
| Spread of a distinct Stx2-encoding phage prototype among Escherichia coli O104:H4 strains from outbreaks in Germany, Norway, and Georgia. Beutin L., Hammerl J.A., Strauch E., Reetz J., Dieckmann R., Kelner-Burgos Y., Martin A., Miko A., Strockbine N.A., Lindstedt B.A. et al. J. Virol. 86:10444-10455(2012) · UniProtKB (83) |
| Aquaglyceroporin 2 controls susceptibility to melarsoprol and pentamidine in African trypanosomes. Baker N., Glover L., Munday J.C., Aguinaga Andres D., Barrett M.P., de Koning H.P., Horn D. Proc. Natl. Acad. Sci. U.S.A. 109:10996-11001(2012) · UniProtKB (1) |
| Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation. Krawitz P.M., Murakami Y., Hecht J., Kruger U., Holder S.E., Mortier G.R., Delle Chiaie B., De Baere E., Thompson M.D., Roscioli T. et al. Am. J. Hum. Genet. 91:146-151(2012) · UniProtKB (1) |
| Functional analysis of alleged NOGGIN mutation G92E disproves its pathogenic relevance. Zimmer J., Doelken S.C., Horn D., Groppe J.C., Shore E.M., Kaplan F.S., Seemann P. PLoS ONE 7:e35062-e35062(2012) · Mapped (2) |
| Hyperglycemia and xerostomia are key determinants of tooth decay in type 1 diabetic mice. Yeh C.K., Harris S.E., Mohan S., Horn D., Fajardo R., Chun Y.H., Jorgensen J., Macdougall M., Abboud-Werner S. Lab. Invest. 92:868-882(2012) · Mapped (7) |
| Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome. Van Houdt J.K., Nowakowska B.A., Sousa S.B., van Schaik B.D., Seuntjens E., Avonce N., Sifrim A., Abdul-Rahman O.A., van den Boogaard M.J., Bottani A. et al. |
| Mutations in the prostaglandin transporter encoding gene SLCO2A1 cause primary hypertrophic osteoarthropathy and isolated digital clubbing. Seifert W., Kuhnisch J., Tuysuz B., Specker C., Brouwers A., Horn D. |
| Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly. Lines M.A., Huang L., Schwartzentruber J., Douglas S.L., Lynch D.C., Beaulieu C., Guion-Almeida M.L., Zechi-Ceide R.M., Gener B., Gillessen-Kaesbach G. et al. Am. J. Hum. Genet. 90:369-377(2012) · UniProtKB (1) · Mapped (8) |
| Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion. Klopocki E., Lohan S., Doelken S.C., Stricker S., Ockeloen C.W., Soares Thiele de Aguiar R., Lezirovitz K., Mingroni Netto R.C., Jamsheer A., Shah H. et al. J. Med. Genet. 49:119-125(2012) · Mapped (8) |
| Meox2Cre-mediated disruption of CSF-1 leads to osteopetrosis and osteocyte defects. Harris S.E., MacDougall M., Horn D., Woodruff K., Zimmer S.N., Rebel V.I., Fajardo R., Feng J.Q., Gluhak-Heinrich J., Harris M.A. et al. Bone 50:42-53(2012) · Mapped (10) |
| Rcl1 protein, a novel nuclease for 18 S ribosomal RNA production. Horn D.M., Mason S.L., Karbstein K. J. Biol. Chem. 286:34082-34087(2011) |
| Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1. Gregor A., Albrecht B., Bader I., Bijlsma E.K., Ekici A.B., Engels H., Hackmann K., Horn D., Hoyer J., Klapecki J. et al. BMC Med. Genet. 12:106-106(2011) · Mapped (29) |
| Neutrophils produce interleukin 17A (IL-17A) in a dectin-1- and IL-23-dependent manner during invasive fungal infection. Werner J.L., Gessner M.A., Lilly L.M., Nelson M.P., Metz A.E., Horn D., Dunaway C.W., Deshane J., Chaplin D.D., Weaver C.T. et al. Infect. Immun. 79:3966-3977(2011) · Mapped (1) |
| Faulty initiation of proteoglycan synthesis causes cardiac and joint defects. Baasanjav S., Al-Gazali L., Hashiguchi T., Mizumoto S., Fischer B., Horn D., Seelow D., Ali B.R., Aziz S.A., Langer R. et al. Am. J. Hum. Genet. 89:15-27(2011) · UniProtKB (2) · Mapped (8) |
| Hyperphosphatasia-mental retardation syndrome due to PIGV mutations: expanded clinical spectrum. Horn D., Krawitz P., Mannhardt A., Korenke G.C., Meinecke P. Am. J. Med. Genet. A 155A:1917-1922(2011) · Mapped (2) |
| Progeroid facial features and lipodystrophy associated with a novel splice site mutation in the final intron of the FBN1 gene. Horn D., Robinson P.N. Am. J. Med. Genet. A 155A:721-724(2011) · Mapped (6) |
| Crebbp haploinsufficiency in mice alters the bone marrow microenvironment, leading to loss of stem cells and excessive myelopoiesis. Zimmer S.N., Zhou Q., Zhou T., Cheng Z., Abboud-Werner S.L., Horn D., Lecocke M., White R., Krivtsov A.V., Armstrong S.A. et al. Blood 118:69-79(2011) · Mapped (9) |
| The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis. Kortum F., Das S., Flindt M., Morris-Rosendahl D.J., Stefanova I., Goldstein A., Horn D., Klopocki E., Kluger G., Martin P. et al. J. Med. Genet. 48:396-406(2011) · Mapped (1) |
| Microdeletions of chromosome 7p21, including TWIST1, associated with significant microcephaly, facial dysmorphism, and short stature. Busche A., Graul-Neumann L.M., Zweier C., Rauch A., Klopocki E., Horn D. Eur J Med Genet 54:256-261(2011) · Mapped (1) |
| Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits. Horn D., Kapeller J., Rivera-Brugues N., Moog U., Lorenz-Depiereux B., Eck S., Hempel M., Wagenstaller J., Gawthrope A., Monaco A.P. et al. Hum. Mutat. 31:E1851-E1860(2010) · UniProtKB (1) · Mapped (11) |
| Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome. Krawitz P.M., Schweiger M.R., Rodelsperger C., Marcelis C., Kolsch U., Meisel C., Stephani F., Kinoshita T., Murakami Y., Bauer S. et al. |
| Osteopoikilosis and multiple exostoses caused by novel mutations in LEMD3 and EXT1 genes respectively--coincidence within one family. Baasanjav S., Jamsheer A., Kolanczyk M., Horn D., Latos T., Hoffmann K., Latos-Bielenska A., Mundlos S. BMC Med. Genet. 11:110-110(2010) · Mapped (4) |
| The conserved mitochondrial twin Cx9C protein Cmc2 Is a Cmc1 homologue essential for cytochrome c oxidase biogenesis. Horn D., Zhou W., Trevisson E., Al-Ali H., Harris T.K., Salviati L., Barrientos A. J. Biol. Chem. 285:15088-15099(2010) · UniProtKB (4) · Mapped (4) |
| Analysis of relative gene dosage and expression differences of the paralogs RABL2A and RABL2B by Pyrosequencing. Kramer M., Backhaus O., Rosenstiel P., Horn D., Klopocki E., Birkenmeier G., Schreiber S., Platzer M., Hampe J., Huse K. Gene 455:1-7(2010) · Mapped (5) |