Methods and compositions for the diagnosis of Cornelia de...

Chemistry: molecular biology and microbiology – Measuring or testing process involving enzymes or... – Involving nucleic acid

Reexamination Certificate

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C435S091200

Reexamination Certificate

active

07629122

ABSTRACT:
Compositions and methods for the diagnosis of Cornelia de Lange Syndrome are disclosed.

REFERENCES:
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Selicomi A et al ‘Clinical score of 62 Italian patients with Cornelia de Lange syndrome and correlations with the presence and type of NIPBL mutation.’ Clin Genet. Aug. 2007;72(2):98-108.
Strachan T ‘Cornelia de Lange Syndrome and the link between chromosomal function, DNA repair and developmental gene regulation.’ Curr Opin Genet Dev. Jun. 2005;15(3):258-64.
Tonkin ET et al ‘NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome.’ Nat Genet. Jun. 2004;36(6):636-41.
Goldsby et al. Immunology (2003), Fifth Edition, section “Cross-Reactivity,” p. 141.
Russell, K.L. et al. “Dominant Paternal Transmission of Cornelia de Lange Syndrome: A New Case and Review of 25 . . . ”; Amer. Journal of Medical Gen., 104: 267-276 (2001).
Krantz, I.D. et al. “Exclusion of Linkage t the CDL1 Gene Region on Chromosome 3q26.3 in Some Familial Cases . . . ”; Amer. Journal of Medical Gen., 101: 120-129 (2001).

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