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Journal Abstract Search

280 related items for PubMed ID: 12673642

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  • 23. Structural analysis of a rare rearranged Y chromosome and its bearing on genotype-phenotype correlation.
    Ogata T, Wakui K, Kosho T, Muroya K, Yamanouchi Y, Takano T, Fukushima Y, Rappold G, Suzuki Y.
    Am J Med Genet; 2000 Jun 05; 92(4):256-9. PubMed ID: 10842291
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  • 24. Mother and daughter with a terminal Xp deletion: implication of chromosomal mosaicism and X-inactivation in the high clinical variability of the microphthalmia with linear skin defects (MLS) syndrome.
    Wimplinger I, Rauch A, Orth U, Schwarzer U, Trautmann U, Kutsche K.
    Eur J Med Genet; 2007 Jun 05; 50(6):421-31. PubMed ID: 17845869
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  • 28. Epidemiology of SHOX deficiency.
    Nicolosi A, Caruso-Nicoletti M.
    J Endocrinol Invest; 2010 Jun 05; 33(6 Suppl):7-10. PubMed ID: 21057178
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  • 31. Short stature homeobox-containing gene deletion screening by fluorescence in situ hybridisation in patients with short stature.
    Musebeck J, Mohnike K, Beye P, Tönnies H, Neitzel H, Schnabel D, Grüters A, Wieacker PF, Stumm M.
    Eur J Pediatr; 2001 Sep 05; 160(9):561-5. PubMed ID: 11585080
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  • 34. [Infrequent X chromosome abnormality and X-linked syndromic deafness].
    Wang YJ, Shi XL, Nie JW, Ni B, Yin ZC, Dai HP.
    Zhong Nan Da Xue Xue Bao Yi Xue Ban; 2004 Oct 05; 29(5):500-3. PubMed ID: 16137031
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  • 35. Array-CGH characterization of a de novo t(X;Y)(p22;q11) in a female with short stature and mental retardation.
    Palka-Bayard-de-Volo C, De Marco S, Chiavaroli V, Alfonsi M, Calabrese G, Chiarelli F, Mohn A.
    Gene; 2012 Aug 01; 504(1):107-10. PubMed ID: 22583828
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  • 36. Trisomy of the short stature homeobox-containing gene (SHOX), resulting from a duplication-deletion of the X chromosome.
    Adamson KA, Cross I, Batch JA, Rappold GA, Glass IA, Ball SG.
    Clin Endocrinol (Oxf); 2002 May 01; 56(5):671-5. PubMed ID: 12035792
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  • 38. Usefulness of MLPA in the detection of SHOX deletions.
    Funari MF, Jorge AA, Souza SC, Billerbeck AE, Arnhold IJ, Mendonca BB, Nishi MY.
    Eur J Med Genet; 2010 May 01; 53(5):234-8. PubMed ID: 20538086
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  • 39. Auxology is a valuable instrument for the clinical diagnosis of SHOX haploinsufficiency in school-age children with unexplained short stature.
    Binder G, Ranke MB, Martin DD.
    J Clin Endocrinol Metab; 2003 Oct 01; 88(10):4891-6. PubMed ID: 14557470
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  • 40. An Xp; Yq translocation causing a novel contiguous gene syndrome in brothers with generalized epilepsy, ichthyosis, and attention deficits.
    Doherty MJ, Glass IA, Bennett CL, Cotter PD, Watson NF, Mitchell AL, Bird TD, Farrell DF.
    Epilepsia; 2003 Dec 01; 44(12):1529-35. PubMed ID: 14636323
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