1 to 10 of 39 literature results

• Shotgun bisulphite sequencing of the Arabidopsis genome reveals DNA methylation patterning.

  Cytosine DNA methylation is important in regulating gene expression and in silencing transposons and other repetitive sequences. Recent genomic studie…

  Authors: Shawn J Cokus, Suhua Feng, Xiaoyu Zhang, Zugen Chen, Barry Merriman, Christian D Haudenschild, Sriharsa Pradhan, Stanley F Nelson, Matteo Pellegrini, Steven E Jacobsen

  Source: Nature. 2008 Mar 13

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• Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia.

  The brachyolmias constitute a clinically and genetically heterogeneous group of skeletal dysplasias characterized by a short trunk, scoliosis and mild…

  Authors: Matthew J Rock, Jean Prenen, Vincent A Funari, Tara L Funari, Barry Merriman, Stanley F Nelson, Ralph S Lachman, William R Wilcox, Soraya Reyno, Roberto Quadrelli,…

  Source: Nature genetics. 2008 Aug

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• High density SNP association study of a major autism linkage region on chromosome 17.

  A region on chromosome 17 has recently been highlighted as linked to autism (MIM[209850]) in multiple studies and evidence has accumulated suggesting …

  Authors: Jennifer L Stone, Barry Merriman, Rita M Cantor, Daniel H Geschwind, Stanley F Nelson

  Source: Human molecular genetics. 2007 Mar 15

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• Mutations in PYCR1 cause cutis laxa with progeroid features.

  Autosomal recessive cutis laxa (ARCL) describes a group of syndromal disorders that are often associated with a progeroid appearance, lax and wrinkled…

  Authors: Bruno Reversade, Nathalie Escande-Beillard, Aikaterini Dimopoulou, Björn Fischer, Serene C Chng, Yun Li, Mohammad Shboul, Puay-Yoke Tham, Hülya Kayserili, Lihadh Al-Gazali,…

  Source: Nature genetics. 2009 Sep

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• A recessive skeletal dysplasia, SEMD aggrecan type, results from a missense mutation affecting the C-type lectin domain of aggrecan.

  Analysis of a nuclear family with three affected offspring identified an autosomal-recessive form of spondyloepimetaphyseal dysplasia characterized by…

  Authors: Stuart W Tompson, Barry Merriman, Vincent A Funari, Maryline Fresquet, Ralph S Lachman, David L Rimoin, Stanley F Nelson, Michael D Briggs, Daniel H Cohn, Deborah Krakow

  Source: American journal of human genetics. 2009 Jan

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• Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome.

  The short-rib polydactyly (SRP) syndromes are a heterogeneous group of perinatal lethal skeletal disorders with polydactyly and multisystem organ abno…

  Authors: Amy E Merrill, Barry Merriman, Claire Farrington-Rock, Natalia Camacho, Eiman T Sebald, Vincent A Funari, Matthew J Schibler, Marc H Firestein, Zachary A Cohn, Mary Ann Priore,…

  Source: American journal of human genetics. 2009 Apr

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• Molecular dynamics of extreme mass segregation in a rapidly collapsing bubble.

  A molecular dynamic simulation of a mixture of light and heavy gases in a rapidly imploding sphere exhibits virtually complete segregation. The lighte…

  Authors: Alexander Bass, Steven J Ruuth, Carlos Camara, Barry Merriman, Seth Putterman

  Source: Physical review letters. 2008 Dec 5

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• Mortality in patients hospitalized for asthma exacerbations in the United States.

  RATIONALE: Hospitalizations for asthma exacerbations are common in the United States, but there are no national estimates of outcomes in this populati…

  Authors: Vidya Krishnan, Gregory B Diette, Cynthia S Rand, Andrew L Bilderback, Barry Merriman, Nadia N Hansel, Jerry A Krishnan

  Source: American journal of respiratory and critical care medicine. 2006 Sep 15

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• Evidence for sex-specific risk alleles in autism spectrum disorder.

  We investigated the genetic aspects of the large sex bias in the prevalence of autism spectrum disorder by monitoring changes in linkage when the fami…

  Authors: Jennifer L Stone, Barry Merriman, Rita M Cantor, Amanda L Yonan, T Conrad Gilliam, Daniel H Geschwind, Stanley F Nelson

  Source: American journal of human genetics. 2004 Dec

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• Patient factors that physicians use to assign asthma treatment.

  BACKGROUND: Asthma guidelines recommend severity assessment to assign treatment, often quantified as current control. It is unknown how strongly contr…

  Authors: Gregory B Diette, Cecilia M Patino, Barry Merriman, Laura Paulin, Kristin Riekert, Sande Okelo, Kathy Thompson, Jerry A Krishnan, Ruth Quartey, Deanna Perez-Williams,…

  Source: Archives of internal medicine. 2007 Jul 9

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