Search Results - "Mueller, Robert F"

Identification of Microcephalin, a Protein Implicated in Determining the Size of the Human Brain by Jackson, Andrew P., Eastwood, Helen, Bell, Sandra M., Adu, Jimi, Toomes, Carmel, Carr, Ian M., Roberts, Emma, Hampshire, Daniel J., Crow, Yanick J., Mighell, Alan J., Karbani, Gulshan, Jafri, Hussain, Rashid, Yasmin, Mueller, Robert F., Markham, Alexander F., Woods, C. Geoffrey

“…Primary microcephaly (MIM 251200) is an autosomal recessive neurodevelopmental condition in which there is a global reduction in cerebral cortex volume, to a…”
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Mutations in a new gene encoding a protein of the hair bundle cause non-syndromic deafness at the DFNB16 locus by Lainé, Sophie, Masmoudi, Saber, Hutchin, Tim P, Verpy, Elisabeth, Leibovici, Michel, Nouaille, Sylvie, Del Castillo, Ignacio, Blanchard, Stéphane, Petit, Christine, Popot, Jean-Luc, Moreno, Felipe, Mueller, Robert F, Zwaenepoel, Ingrid

“…Hearing impairment affects about 1 in 1,000 children at birth. Approximately 70 loci implicated in non-syndromic forms of deafness have been reported in humans…”
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Mitochondrial DNA mutations in patients with postlingual, nonsyndromic hearing impairment by JACOBS, Howard T, HUTCHIN, Timothy P, ZELANTE, Leopoldo, GASPARINI, Paolo, PYYKKÖ, Ilmari, SHAH, Zahid H, ZEVIANI, Massimo, MUELLER, Robert F, KÄPPI, Timo, GILLIES, Greta, MINKKINEN, Kia, WALKER, John, THOMPSON, Karen, ROVIO, Anja T, CARELLA, Massimo, MELCHIONDA, Salvatore

“…Mitochondrial mutations have previously been reported anecdotally in families with maternally inherited, nonsyndromic hearing impairment. To ascertain the…”
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Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13) by Smith, Richard J.H, McGuirt, Wyman T, Prasad, Sai D, Griffith, Andrew J, Kunst, Henricus P.M, Green, Glenn E, Shpargel, Karl B, Runge, Christina, Huybrechts, Christy, Mueller, Robert F, Lynch, Eric, King, Mary-Claire, Brunner, Han G, Cremers, Cor W.R.J, Takanosu, Masamine, Li, Shi-Wu, Arita, Machiko, Mayne, Richard, Prockop, Darwin J, Camp, Guy Van

“…We report that mutation of COL11A2 causes deafness previously mapped to the DFNA13 locus on chromosome 6p. We found two families (one American and one Dutch)…”
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Bacterial transport and colonization in low nutrient environments by Mueller, Robert F.

“…Crucial and potentially rate limiting events in biofilm formation are the transport of microorganisms to the solid-water interface and the subsequent…”
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Primary Autosomal Recessive Microcephaly (MCPH1) Maps to Chromosome 8p22-pter by Jackson, Andrew P., McHale, Duncan P., Campbell, David A., Jafri, Hussain, Rashid, Yasmin, Mannan, Jovaria, Karbani, Gulshan, Corry, Peter, Levene, Malcolm I., Mueller, Robert F., Markham, Alexander F., Lench, Nicholas J., Woods, C. Geoffrey

“…Primary (or “true”) microcephaly is inherited as an autosomal recessive trait and is thought to be genetically heterogeneous. Using autozygosity mapping, we…”
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Mutations in a protein target of the Pim-1 kinase associated with the RP9 form of autosomal dominant retinitis pigmentosa by Keen, T Jeffrey, Hims, Matthew M, McKie, Arthur B, Moore, Anthony T, Doran, Rob M, Mackey, David A, Mansfield, David C, Mueller, Robert F, Bhattacharya, Shomi S, Bird, Alan C, Markham, Alexander F, Inglehearn, Chris F

“…The RP9 form of autosomal dominant retinitis pigmentosa (adRP) maps to a locus on human chromosome 7p14. We now report two different disease associated…”
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Microphthalmia with linear skin defects (MLS) syndrome: Clinical, cytogenetic, and molecular characterization of 11 cases by Morleo, Manuela, Pramparo, Tiziano, Perone, Lucia, Gregato, Giuliana, Caignec, Cedric Le, Mueller, Robert F., Ogata, Tsutomu, Raas-Rothschild, Annick, de Blois, Marie Christine, Wilson, Louise C., Zaidman, Gerald, Zuffardi, Orsetta, Ballabio, Andrea, Franco, Brunella

“…The microphthalmia with linear skin defects (MLS) syndrome (MIM 309801) is a severe and rare developmental disorder, which is inherited as an X‐linked dominant…”
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A novel locus for Meckel-Gruber syndrome, MKS3, maps to chromosome 8q24 by MORGAN, Neil V, GISSEN, Paul, TREMBATH, Richard C, MAHER, Eamonn R, JOHNSON, Colin A, SAGHIRA MALIK SHARIF, BAUMBER, Laura, SUTHERLAND, Joan, KELLY, Deirdre A, AMINU, Kingi, BENNETT, Christopher P, WOODS, C. Geoffrey, MUELLER, Robert F

“…Meckel-Gruber syndrome (MKS), the most common monogenic cause of neural tube defects, is an autosomal recessive disorder characterised by a combination of…”
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A Mutation (2314delG) in the Usher Syndrome Type IIA Gene: High Prevalence and Phenotypic Variation by Liu, Xue-Zhong, Hope, Carolyn, Liang, Chuan Yu, Zou, Jiu Mu, Xu, Li Rong, Cole, T., Mueller, Robert F., Bundey, Sarah, Nance, Walter, Steel, Karen P., Brown, Steve D.M.

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Microbially Mediated Thallium Immobilization in Bench Scale Systems by Mueller, Robert F.

“…Results from bench-scale tests for thallium remediation in mining-impacted water are presented and removal mechanisms are discussed. The source water consisted…”
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Maternally inherited hearing impairment in a family with the mitochondrial DNA A7445G mutation by Hutchin, T P, Lench, N J, Arbuzova, S, Markham, A F, Mueller, R F

“…Despite the increasing number of reports of families with hearing impairment and mitochondrial DNA (mtDNA) mutations, the frequency of these mutations as…”
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Characterization of thermophilic consortia from two souring oil reservoirs by MUELLER, R. F, NIELSEN, P. H

“…Services AEM Citing Articles Google Scholar PubMed Related Content Social Bookmarking CiteULike Delicious Digg Facebook Google+ Mendeley Reddit StumbleUpon…”
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Multiple origins of the mtDNA 7472insC mutation associated with hearing loss and neurological dysfunction by Hutchin, T P, Navarro-Coy, N C, Van Camp, G, Tiranti, V, Zeviani, M, Schuelke, M, Jaksch, M, Newton, V, Mueller, R F

“…Several mtDNA mutations have been reported in families with both syndromic and non-syndromic hearing loss. One such mutation is the heteroplasmic 7472insC in…”
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Traces of her workings by Mueller, Robert F, Duyk, Geoffrey, Gastier, Julie M

“…Hearing loss is the most common form of sensory impairment. Profound childhood hearing loss has an incidence ranging from 4-8/1,000 births in developed…”
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Prelingual Deafness: High Prevalence of a 30delG Mutation in the Connexin 26 Gene by Denoyelle, Françoise, Weil, Dominique, Maw, Marion A., Wilcox, Stephen A., Lench, Nicholas J., Allen-Powell, Denise R., Osborn, Amelia H., Dahl, Hans-Henrik M., Middleton, Anna, Houseman, Mark J., Dodé, Catherine, Marlin, Sandrine, Boulila-ElGaïed, Amel, Grati, Mohammed, Ayadi, Hammadi, BenArab, Saïda, Bitoun, Pierre, Lina-Granade, Geneviève, Godet, Jacqueline, Mustapha, Mirna, Loiselet, Jacques, El-Zir, Élie, Aubois, Anne, Joannard, Alain, Levilliers, Jacqueline, Garabédian, Éréa-Noël, Mueller, Robert F., McKinlay Gardner, R. J., Petit, Christine

“…Prelingual non-syndromic (isolated) deafness is the most frequent hereditary sensory defect. In >80% of the cases, the mode of transmission is autosomal…”
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Evaluation of a protocol for post-mortem examination of stillbirths by Mueller, R F, Sybert, V P, Johnson, J, Brown, Z A, Chen, W J

“…A variety of procedures have been recommended for post-mortem examination of stillbirths to determine the cause of the loss of the pregnancy and to provide an…”
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Mutations in a protein target of the Pim-1 kinase associated with the RP9 form of autosomal dominant retinitis pigmentosa

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Chemical aspects of viscous flow in planetary mantles by Mueller, Robert F.

“…A critique is presented of the various mathematical rheological models, and their applications to the mantles of the Earth and the terrestrial planets is…”
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Effect of Temperature on the Strength and Composition of the Upper Lithosphere of Venus by MUELLER, ROBERT F

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