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198 results
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Prenatal diagnosis of a fetus with a homologous Robertsonian translocation of chromosomes 15.
Cheung SW, Shaffer LG, Richards CS, Page SL, Riconda DL. Cheung SW, et al. Among authors: richards cs. Am J Med Genet. 1997 Oct 3;72(1):47-50. doi: 10.1002/(sici)1096-8628(19971003)72:1<47::aid-ajmg10>3.0.co;2-u. Am J Med Genet. 1997. PMID: 9295074
In situ hybridization shows direct evidence of skewed X inactivation in one of monozygotic twin females manifesting Duchenne muscular dystrophy.
Zneimer SM, Schneider NR, Richards CS. Zneimer SM, et al. Among authors: richards cs. Am J Med Genet. 1993 Mar 1;45(5):601-5. doi: 10.1002/ajmg.1320450517. Am J Med Genet. 1993. PMID: 8456832
Skewed X inactivation in a female MZ twin results in Duchenne muscular dystrophy.
Richards CS, Watkins SC, Hoffman EP, Schneider NR, Milsark IW, Katz KS, Cook JD, Kunkel LM, Cortada JM. Richards CS, et al. Am J Hum Genet. 1990 Apr;46(4):672-81. Am J Hum Genet. 1990. PMID: 2180286 Free PMC article.
Non-specific X linked mental retardation with aphasia exhibiting genetic linkage to chromosomal region Xp11.
Wilson GN, Richards CS, Katz K, Brookshire GS. Wilson GN, et al. Among authors: richards cs. J Med Genet. 1992 Sep;29(9):629-34. doi: 10.1136/jmg.29.9.629. J Med Genet. 1992. PMID: 1357179 Free PMC article.
Molecular detection of new mutations, resolution of ambiguous results and complex genetic counseling issues in Huntington disease.
Alford RL, Ashizawa T, Jankovic J, Caskey CT, Richards CS. Alford RL, et al. Among authors: richards cs. Am J Med Genet. 1996 Dec 18;66(3):281-6. doi: 10.1002/(SICI)1096-8628(19961218)66:3<281::AID-AJMG9>3.0.CO;2-S. Am J Med Genet. 1996. PMID: 8985488
Diagnostic DNA testing for X-linked ocular albinism (OA1) with a hierarchical mutation screening protocol.
Hegde M, Lewis RA, Richards CS. Hegde M, et al. Among authors: richards cs. Genet Test. 2002 Spring;6(1):7-14. doi: 10.1089/109065702760093852. Genet Test. 2002. PMID: 12180081
Identification of female carriers for Duchenne and Becker muscular dystrophies using a FISH-based approach.
Ligon AH, Kashork CD, Richards CS, Shaffer LG. Ligon AH, et al. Among authors: richards cs. Eur J Hum Genet. 2000 Apr;8(4):293-8. doi: 10.1038/sj.ejhg.5200450. Eur J Hum Genet. 2000. PMID: 10854113
DMD-specific FISH probes are diagnostically useful in the detection of female carriers of DMD gene deletions.
Voskova-Goldman A, Peier A, Caskey CT, Richards CS, Shaffer LG. Voskova-Goldman A, et al. Among authors: richards cs. Neurology. 1997 Jun;48(6):1633-8. doi: 10.1212/wnl.48.6.1633. Neurology. 1997. PMID: 9191779
Screening for 185delAG in the Ashkenazim.
Richards CS, Ward PA, Roa BB, Friedman LC, Boyd AA, Kuenzli G, Dunn JK, Plon SE. Richards CS, et al. Am J Hum Genet. 1997 May;60(5):1085-98. Am J Hum Genet. 1997. PMID: 9150156 Free PMC article.
Southern analysis for detection of CAG repeat expansions associated with dentatorubral pallidoluysian atrophy.
Alford RL, Margolis RL, Ross CA, Richards CS. Alford RL, et al. Among authors: richards cs. Hum Genet. 1997 Mar;99(3):354-6. doi: 10.1007/s004390050371. Hum Genet. 1997. PMID: 9050922
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