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Most-Read Articles during April 2012

Most-read rankings are recalculated at the beginning of the month and are based on full-text and pdf views.

  1. Short report: Genitopatellar syndrome: a new condition comprising absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation
    • Valérie Cormier-Daire,
    • Marie-Liesse Chauvet,
    • Stanislas Lyonnet,
    • Marie-Louise Briard,
    • Arnold Munnich,
    • Martine Le Merrer
    J Med Genet 2000;37:7 520-524 doi:10.1136/jmg.37.7.520
  2. Review article: Angelman syndrome: a review of the clinical and genetic aspects
    • J Clayton-Smith,
    • L Laan
    J Med Genet 2003;40:2 87-95 doi:10.1136/jmg.40.2.87
  3. Letters to the editor: Breast hypoplasia and disproportionate short stature in the ear, patella, short stature syndrome: expansion of the phenotype?
    • P A TERHAL,
    • M G E M AUSEMS,
    • Y VAN BEVER,
    • L P TEN KATE,
    • P F DIJKSTRA,
    • G M C KUIJPERS
    J Med Genet 2000;37:9 719-721 doi:10.1136/jmg.37.9.719
  4. Review: Apoptosis and cancer: mutations within caspase genes
    • S Ghavami,
    • M Hashemi,
    • S R Ande,
    • B Yeganeh,
    • W Xiao,
    • M Eshraghi,
    • C J Bus,
    • K Kadkhoda,
    • E Wiechec,
    • A J Halayko,
    • M Los
    J Med Genet 2009;46:8 497-510 Published Online First: 7 June 2009 doi:10.1136/jmg.2009.066944
  5. Original article: Two male patients with ring Y: definition of an interval in Yq contributing to Turner syndrome
    • Maria Tzancheva,
    • Radka Kaneva,
    • Philip Kumanov,
    • Gareth Williams,
    • Chris Tyler-Smith
    J Med Genet 1999;36:7 549-553 doi:10.1136/jmg.36.7.549
  6. Online mutation report: A novel duplication in the HOXA13 gene in a family with atypical hand-foot-genital syndrome
    • L Frisén,
    • K Lagerstedt,
    • M Tapper-Persson,
    • I Kockum,
    • A Nordenskjöld
    J Med Genet 2003;40:4 e49 doi:10.1136/jmg.40.4.e49
  7. Original article: The face of Smith-Magenis syndrome: a subjective and objective study
    • Judith E Allanson,
    • Frank Greenberg,
    • Ann C M Smith
    J Med Genet 1999;36:5 394-397 doi:10.1136/jmg.36.5.394
  8. Review article: Nail patella syndrome: a review of the phenotype aided by developmental biology
    • E Sweeney,
    • A Fryer,
    • R Mountford,
    • A Green,
    • I McIntosh
    J Med Genet 2003;40:3 153-162 doi:10.1136/jmg.40.3.153
  9. Letters to JMG: Short-limbed dwarfism with bowing, combined immune deficiency, and late onset aplastic anaemia caused by novel mutations in the RMPR gene
    • T W Kuijpers,
    • M Ridanpää,
    • M Peters,
    • I de Boer,
    • J M J J Vossen,
    • S T Pals,
    • I Kaitila,
    • R C M Hennekam
    J Med Genet 2003;40:10 761-766 doi:10.1136/jmg.40.10.761
  10. Letters to JMG: Homozygous missense mutation in the lamin A/C gene causes autosomal recessive Hutchinson-Gilford progeria syndrome
    • M Plasilova,
    • C Chattopadhyay,
    • P Pal,
    • N A Schaub,
    • S A Buechner,
    • Hj Mueller,
    • P Miny,
    • A Ghosh,
    • K Heinimann
    J Med Genet 2004;41:8 609-614 doi:10.1136/jmg.2004.019661

Last updated 05/06/2012 05:03:15

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