Yates JR - Search Results

1

Elastin: mutational spectrum in supravalvular aortic stenosis.

Metcalfe K, Rucka AK, Smoot L, Hofstadler G, Tuzler G, McKeown P, Siu V, Rauch A, Dean J, Dennis N, Ellis I, Reardon W, Cytrynbaum C, Osborne L, Yates JR, Read AP, Donnai D, Tassabehji M. Metcalfe K, et al. Among authors: yates jr. Eur J Hum Genet. 2000 Dec;8(12):955-63. doi: 10.1038/sj.ejhg.5200564. Eur J Hum Genet. 2000. PMID: 11175284

2

Linkage analysis in 16 families with incontinentia pigmenti.

Jouet M, Stewart H, Landy S, Yates J, Yong SL, Harris A, Garret C, Hatchwell E, Read A, Donnai D, Kenwrick S. Jouet M, et al. Eur J Hum Genet. 1997 May-Jun;5(3):168-70. Eur J Hum Genet. 1997. PMID: 9272741

3

Duplication of 8p23.1: a cytogenetic anomaly with no established clinical significance.

Barber JC, Joyce CA, Collinson MN, Nicholson JC, Willatt LR, Dyson HM, Bateman MS, Green AJ, Yates JR, Dennis NR. Barber JC, et al. Among authors: yates jr. J Med Genet. 1998 Jun;35(6):491-6. doi: 10.1136/jmg.35.6.491. J Med Genet. 1998. PMID: 9643291 Free PMC article.

4

Guidelines for DNA banking. Report of the Clinical Genetics Society working party on DNA banking.

Yates JR, Malcolm S, Read AP. Yates JR, et al. J Med Genet. 1989 Apr;26(4):245-50. doi: 10.1136/jmg.26.4.245. J Med Genet. 1989. PMID: 2716034 Free PMC article. No abstract available.

5

Nine novel L1 CAM mutations in families with X-linked hydrocephalus.

MacFarlane JR, Du JS, Pepys ME, Ramsden S, Donnai D, Charlton R, Garrett C, Tolmie J, Yates JR, Berry C, Goudie D, Moncla A, Lunt P, Hodgson S, Jouet M, Kenwrick S. MacFarlane JR, et al. Among authors: yates jr. Hum Mutat. 1997;9(6):512-8. doi: 10.1002/(SICI)1098-1004(1997)9:6<512::AID-HUMU3>3.0.CO;2-3. Hum Mutat. 1997. PMID: 9195224

6

Refining the genetic location of the gene for X linked hydrocephalus within Xq28.

Jouet M, Feldman E, Yates J, Donnai D, Paterson J, Siggers D, Kenwrick S. Jouet M, et al. J Med Genet. 1993 Mar;30(3):214-7. doi: 10.1136/jmg.30.3.214. J Med Genet. 1993. PMID: 8474107 Free PMC article.

7

Changes at P183 of emerin weaken its protein-protein interactions resulting in X-linked Emery-Dreifuss muscular dystrophy.

Ellis JA, Yates JR, Kendrick-Jones J, Brown CA. Ellis JA, et al. Among authors: yates jr. Hum Genet. 1999 Mar;104(3):262-8. doi: 10.1007/s004390050946. Hum Genet. 1999. PMID: 10323252

8

Mutations in the TSC2 gene: analysis of the complete coding sequence using the protein truncation test (PTT).

van Bakel I, Sepp T, Ward S, Yates JR, Green AJ. van Bakel I, et al. Among authors: yates jr. Hum Mol Genet. 1997 Sep;6(9):1409-14. doi: 10.1093/hmg/6.9.1409. Hum Mol Genet. 1997. PMID: 9285776

9

Stickler syndrome: further mutations in COL11A1 and evidence for additional locus heterogeneity.

Martin S, Richards AJ, Yates JR, Scott JD, Pope M, Snead MP. Martin S, et al. Among authors: yates jr. Eur J Hum Genet. 1999 Oct-Nov;7(7):807-14. doi: 10.1038/sj.ejhg.5200377. Eur J Hum Genet. 1999. PMID: 10573014

10

A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha 1 (XI) collagen.

Richards AJ, Yates JR, Williams R, Payne SJ, Pope FM, Scott JD, Snead MP. Richards AJ, et al. Among authors: yates jr. Hum Mol Genet. 1996 Sep;5(9):1339-43. doi: 10.1093/hmg/5.9.1339. Hum Mol Genet. 1996. PMID: 8872475

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