Metcalfe K - Search Results

1

Williams syndrome: an update on clinical and molecular aspects.

Metcalfe K. Metcalfe K. Arch Dis Child. 1999 Sep;81(3):198-200. doi: 10.1136/adc.81.3.198. Arch Dis Child. 1999. PMID: 10451389 Free PMC article. No abstract available.

2

Williams syndrome: use of chromosomal microdeletions as a tool to dissect cognitive and physical phenotypes.

Tassabehji M, Metcalfe K, Karmiloff-Smith A, Carette MJ, Grant J, Dennis N, Reardon W, Splitt M, Read AP, Donnai D. Tassabehji M, et al. Among authors: metcalfe k. Am J Hum Genet. 1999 Jan;64(1):118-25. doi: 10.1086/302214. Am J Hum Genet. 1999. PMID: 9915950 Free PMC article.

3

A complete physical contig and partial transcript map of the Williams syndrome critical region.

Hockenhull EL, Carette MJ, Metcalfe K, Donnai D, Read AP, Tassabehji M. Hockenhull EL, et al. Among authors: metcalfe k. Genomics. 1999 Jun 1;58(2):138-45. doi: 10.1006/geno.1999.5815. Genomics. 1999. PMID: 10366445

4

A transcription factor involved in skeletal muscle gene expression is deleted in patients with Williams syndrome.

Tassabehji M, Carette M, Wilmot C, Donnai D, Read AP, Metcalfe K. Tassabehji M, et al. Among authors: metcalfe k. Eur J Hum Genet. 1999 Oct-Nov;7(7):737-47. doi: 10.1038/sj.ejhg.5200396. Eur J Hum Genet. 1999. PMID: 10573005

5

Isolation and characterisation of GTF2IRD2, a novel fusion gene and member of the TFII-I family of transcription factors, deleted in Williams-Beuren syndrome.

Tipney HJ, Hinsley TA, Brass A, Metcalfe K, Donnai D, Tassabehji M. Tipney HJ, et al. Among authors: metcalfe k. Eur J Hum Genet. 2004 Jul;12(7):551-60. doi: 10.1038/sj.ejhg.5201174. Eur J Hum Genet. 2004. PMID: 15100712

6

Diagnosing fetal alcohol syndrome: new insights from newer genetic technologies.

Douzgou S, Breen C, Crow YJ, Chandler K, Metcalfe K, Jones E, Kerr B, Clayton-Smith J. Douzgou S, et al. Among authors: metcalfe k. Arch Dis Child. 2012 Sep;97(9):812-7. doi: 10.1136/archdischild-2012-302125. Epub 2012 Jul 14. Arch Dis Child. 2012. PMID: 22798695

7

Autosomal dominant inheritance of Williams-Beuren syndrome in a father and son with haploinsufficiency for FKBP6.

Metcalfe K, Simeonov E, Beckett W, Donnai D, Tassabehji M. Metcalfe K, et al. Clin Dysmorphol. 2005 Apr;14(2):61-65. Clin Dysmorphol. 2005. PMID: 15770126

8

GTF2IRD1 in craniofacial development of humans and mice.

Tassabehji M, Hammond P, Karmiloff-Smith A, Thompson P, Thorgeirsson SS, Durkin ME, Popescu NC, Hutton T, Metcalfe K, Rucka A, Stewart H, Read AP, Maconochie M, Donnai D. Tassabehji M, et al. Among authors: metcalfe k. Science. 2005 Nov 18;310(5751):1184-7. doi: 10.1126/science.1116142. Epub 2005 Nov 3. Science. 2005. PMID: 16293761

9

The CHD8 overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients.

Ostrowski PJ, Zachariou A, Loveday C, Beleza-Meireles A, Bertoli M, Dean J, Douglas AGL, Ellis I, Foster A, Graham JM, Hague J, Hilhorst-Hofstee Y, Hoffer M, Johnson D, Josifova D, Kant SG, Kini U, Lachlan K, Lam W, Lees M, Lynch S, Maitz S, McKee S, Metcalfe K, Nathanson K, Ockeloen CW, Parker MJ, Pierson TM, Rahikkala E, Sanchez-Lara PA, Spano A, Van Maldergem L, Cole T, Douzgou S, Tatton-Brown K. Ostrowski PJ, et al. Among authors: metcalfe k. Am J Med Genet C Semin Med Genet. 2019 Dec;181(4):557-564. doi: 10.1002/ajmg.c.31749. Epub 2019 Nov 13. Am J Med Genet C Semin Med Genet. 2019. PMID: 31721432

10

Further delineation of the clinical spectrum of White-Sutton syndrome: 12 new individuals and a review of the literature.

Murch O, Jain V, Benneche A, Metcalfe K, Hobson E, Prescott K, Chandler K, Ghali N, Carmichael J, Foulds NC, Paulsen J, Smeland MF, Berland S, Fry AE. Murch O, et al. Among authors: metcalfe k. Eur J Hum Genet. 2022 Jan;30(1):95-100. doi: 10.1038/s41431-021-00961-3. Epub 2021 Oct 14. Eur J Hum Genet. 2022. PMID: 34645992 Free PMC article. Review.

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