SEARCH

SEARCH BY CITATION

REFERENCES

  • Alazami AM, Al-Saif A, Al-Semari A, Bohlega S, Zlitni S, Alzahrani F, Bavi P, Kaya N, Colak D, Khalak H, Baltus A, Peterlin B, Danda S, Bhatia KP, Schneider SA, Sakati N, Walsh CA, Al-Mohanna F, Meyer B, Alkuraya FS. 2008. Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome. Am J Hum Genet 83: 684691.
  • Bangstad HJ, Beck-Nielsen H, Hother-Nielsen O, Nystad R, Trygstad O, Pedersen O, Aagenaes O. 1989. Primordial birdheaded nanism associated with progressive ataxia, early onset insulin resistant diabetes, goiter and primary gonadal insufficiency. A new syndrome. Acta Paediatr Scand 78: 488493.
  • Carr IM, Flintoff KJ, Taylor GR, Markham AF, Bonthron DT. 2006. Interactive visual analysis of SNP data for rapid autozygosity mapping in consanguineous families. Hum Mutat 27: 10411046.
  • Daly SB, Urquhart JE, Hilton E, McKenzie EA, Kammerer RA, Lewis M, Kerr B, Stuart H, Donnai D, Long DA, Burgu B, Aydogdu O, Derbent M, Garcia-Minaur S, Reardon W, Gener B, Shalev S, Smith R, Woolf AS, Black GC, Newman WG. 2010. Mutations in HPSE2 cause urofacial syndrome. Am J Hum Genet 86: 963969.
  • Freeman JV, Cole TJ, Chinn S, Jones PR, White EM, Preece MA. 1995. Cross sectional stature and weight reference curves for the UK, 1990. Arch Dis Child 73: 1724.
  • Kaindl AM, Passemard S, Kumar P, Kraemer N, Issa L, Zwirner A, Gerard B, Verloes A, Mani S, Gressens P. 2010. Many roads lead to primary autosomal recessive microcephaly. Prog Neurobiol 90: 363383.
  • Naz S, Giguere CM, Kohrman DC, Mitchem KL, Riazuddin S, Morell RJ, Ramesh A, Srisailpathy S, Deshmukh D, Riazuddin S, Griffith AJ, Friedman TB, Smith RJ, Wilcox ER. 2002. Mutations in a novel gene, TMIE, are associated with hearing loss linked to the DFNB6 locus. Am J Hum Genet 71: 632636.
  • Petit C, Richardson GP. 2009. Linking genes underlying deafness to hair-bundle development and function. Nat Neurosci 12: 703710.
  • Pollitt RJ, Jenner FA, Davies M. 1968. Sibs with mental and physical retardation and trichorrhexis nodosa with abnormal amino acid composition of the hair. Arch Dis Child 43: 211216.
  • Ropers HH. 2010. Genetics of early onset cognitive impairment. Annu Rev Genomics Hum Genet 11: 161187.
  • Spiegel R, Cliffe ST, Buckley MF, Crow YJ, Urquhart J, Horovitz Y, Tenenbaum-Rakover Y, Newman WG, Donnai D, Shalev SA. 2010. Expanding the clinical spectrum of SLC29A3 gene defects. Eur J Med Genet 53: 309313.
  • Topaloglu AK, Kotan LD. 2010. Molecular causes of hypogonadotropic hypogonadism. Curr Opin Obstet Gynecol 22: 264270.
  • Vissers LE, van Ravenswaaij CM, Admiraal R, Hurst JA, de Vries BB, Janssen IM, van der Vliet WA, Huys EH, de Jong PJ, Hamel BC, Schoenmakers EF, Brunner HG, Veltman JA, van Kessel AG. 2004. Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. Nat Genet 36: 955957.
  • Woodhouse NJ, Sakati NA. 1983. A syndrome of hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and ECG abnormalities. J Med Genet 20: 216219.
  • Zlotogora J. 2007. Multiple mutations responsible for frequent genetic diseases in isolated populations. Eur J Hum Genet 15: 272278.