James RS - Search Results

1

Uniparental isodisomy 13 in a normal female due to transmission of a maternal t(13q13q).

Stallard R, Krueger S, James RS, Schwartz S. Stallard R, et al. Among authors: james rs. Am J Med Genet. 1995 May 22;57(1):14-8. doi: 10.1002/ajmg.1320570105. Am J Med Genet. 1995. PMID: 7645591

2

Mosaic tetrasomy 8p: molecular cytogenetic confirmation and measurement of glutathione reductase and tissue plasminogen activator levels.

Fisher AM, Barber JC, Crolla JA, James RS, Lestas AN, Jennings I, Dennis NR. Fisher AM, et al. Among authors: james rs. Am J Med Genet. 1993 Aug 1;47(1):100-5. doi: 10.1002/ajmg.1320470121. Am J Med Genet. 1993. PMID: 8368238 Review.

3

Nondisjunction of human acrocentric chromosomes: studies of 432 trisomic fetuses and liveborns.

Zaragoza MV, Jacobs PA, James RS, Rogan P, Sherman S, Hassold T. Zaragoza MV, et al. Among authors: james rs. Hum Genet. 1994 Oct;94(4):411-7. doi: 10.1007/BF00201603. Hum Genet. 1994. PMID: 7927339

4

A search for uniparental disomy in carriers of supernumerary marker chromosomes.

James RS, Temple IK, Dennis NR, Crolla JA. James RS, et al. Eur J Hum Genet. 1995;3(1):21-6. doi: 10.1159/000472270. Eur J Hum Genet. 1995. PMID: 7767653

5

Protelomeric sequences are deleted in cases of short arm inverted duplication of chromosome 8.

Barber JC, James RS, Patch C, Temple IK. Barber JC, et al. Among authors: james rs. Am J Med Genet. 1994 Apr 15;50(3):296-9. doi: 10.1002/ajmg.1320500315. Am J Med Genet. 1994. PMID: 8042676

6

Clinical outcomes of adjacent 1 segregation in a familial translocation t(8;18)(p21.3;p11.23).

Cockwell AE, James RS, Moore IE, Hatchwell E, Crolla JA. Cockwell AE, et al. Among authors: james rs. J Med Genet. 1996 Jun;33(6):515-7. doi: 10.1136/jmg.33.6.515. J Med Genet. 1996. PMID: 8782055 Free PMC article.

7

Duplication of 16q22-->qter confirmed by fluorescence in situ hybridisation and molecular analysis.

Houlston RS, Renshaw RM, James RS, Ironton R, Temple IK. Houlston RS, et al. Among authors: james rs. J Med Genet. 1994 Nov;31(11):884-7. doi: 10.1136/jmg.31.11.884. J Med Genet. 1994. PMID: 7853376 Free PMC article.

8

Diaphragmatic herniae and translocations involving 8q22 in two patients.

Temple IK, Barber JC, James RS, Burge D. Temple IK, et al. Among authors: james rs. J Med Genet. 1994 Sep;31(9):735-7. doi: 10.1136/jmg.31.9.735. J Med Genet. 1994. PMID: 7815446 Free PMC article.

9

Three patients with a 45,X/46,X,psu dic(Xp) karyotype.

Dalton P, Coppin B, James R, Skuse D, Jacobs P. Dalton P, et al. J Med Genet. 1998 Jun;35(6):519-24. doi: 10.1136/jmg.35.6.519. J Med Genet. 1998. PMID: 9643298 Free PMC article. Review.

10

RDCI, the vasoactive intestinal peptide receptor: a candidate gene for the features of Albright hereditary osteodystrophy associated with deletion of 2q37.

Power MM, James RS, Barber JC, Fisher AM, Wood PJ, Leatherdale BA, Flanagan DE, Hatchwell E. Power MM, et al. Among authors: james rs. J Med Genet. 1997 Apr;34(4):287-90. doi: 10.1136/jmg.34.4.287. J Med Genet. 1997. PMID: 9138150 Free PMC article.

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