Searching journal content for articles similar to Ranta et al. 7 (9): 887.

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  1. LETTER: High-Resolution Physical and Genetic Mapping of the Critical Region for Meckel Syndrome and Mulibrey Nanism on Chromosome 17q22–q23
    • Paulina Paavola,
    • Kristiina Avela,
    • Nina Horelli-Kuitunen,
    • Maarit Bärlund,
    • Anne Kallioniemi,
    • Niina Idänheimo,
    • Mira Kyttälä,
    • Albert de la Chapelle,
    • Aarno Palotie,
    • Anna-Elina Lehesjoki,
    • and Leena Peltonen
    Genome Res. March 1, 1999 9: 267-276; doi:10.1101/gr.9.3.267
    .... ↵ Ranta S. , Lehesjoki A.-E. , de Fatima Bonaldo M. , Knowles J.A. , Hirvasniemi A. , Ross B. , de Jong P.J. , Bento Soares M. , de la Chapelle A. , Gilliam T.C. ( 1997 ) High-resolution mapping and transcript identification at the progressive epilepsy with mental retardation locus on chromosome 8p...
  2. REVIEW: A Phenotype Map of the Mouse X Chromosome: Models for Human X-linked Disease
    • Yvonne Boyd,
    • Helen J. Blair,
    • Pamela Cunliffe,
    • Walter K. Masson,
    • and Vivienne Reed
    Genome Res. March 1, 2000 10: 277-292; doi:10.1101/gr.10.3.277
    ...) Wasp Wiskott–Aldrich syndrome protein # decreased peripheral blood lymphocyte and platelet numbers, chronic colitis Snapper et al. (1998) Xist inactive X specific transcripts mutant males unaffected, females inheriting mutant paternal X chromosome severely retarded and die in utero Penny et al. (1996...
  3. Method: A metabolomic and systems biology perspective on the brain of the Fragile X syndrome mouse model
    • Laetitia Davidovic,
    • Vincent Navratil,
    • Carmela M. Bonaccorso,
    • Maria Vincenza Catania,
    • Barbara Bardoni,
    • and Marc-Emmanuel Dumas
    Genome Res. December 2011 21: 2190-2202; Published in Advance September 7, 2011, doi:10.1101/gr.116764.110
    ...Très Hauts Champs (UMR 5280 CNRS, ENS Lyon, UCBL1), 69100 Villeurbanne, France; 4Pôle Rhône Alpes de Bioinformatique, Université Lyon 1, 69622 Villeurbanne cedex, France; 5Oasi Institute for Research on Mental Retardation and Brain Aging (IRCCS), 94018 Troina, Enna, Italy...
  4. Research: Unbalanced translocations arise from diverse mutational mechanisms including chromothripsis
    • Brooke Weckselblatt,
    • Karen E. Hermetz,
    • and M. Katharine Rudd
    Genome Res. July 2015 25: 937-947; Published in Advance June 12, 2015, doi:10.1101/gr.191247.115
    ...analysis of a constitutional complex rearrangement with 11 breakpoints involving chromosomes 3, 11, 12, and 21 and a approximately 0.5-Mb submicroscopic deletion in a patient with mild mental retardation. Hum Genet 118: 267–275. Bose P, Hermetz KE, Conneely KN, Rudd MK. 2014. Tandem repeats and G...
  5. Research: The clustering of functionally related genes contributes to CNV-mediated disease
    • Tallulah Andrews,
    • Frantisek Honti,
    • Rolph Pfundt,
    • Nicole de Leeuw,
    • Jayne Hehir-Kwa,
    • Anneke Vulto-van Silfhout,
    • Bert de Vries,
    • and Caleb Webber
    Genome Res. June 2015 25: 802-813; Published in Advance April 17, 2015, doi:10.1101/gr.184325.114
    ...NIJMEGEN de novo CNVs were identified in hg17 coordinates that were mapped to hg18 using liftOver (Rhead et al. 2010). Genesweremapped to these CNV regions from Ensembl 54 (Flicek et al. 2010) such that some exonic sequence from every transcript for the gene was within the CNV region. Using this criterion...
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