FIND

researchers

DISCOVER

relevant articles

PROMOTE

your research

now for free

Kay Metcalfe

Research Profile

Disorders

Anatomy

Physiology

Gene Deletion

Procedures

Chemicals & Drugs

Concepts & Ideas

Genes & Molecular Sequences

Living Beings

Co-author Network

Publications

TOP 3
Siddharth Banka; Kay Metcalfe; Jill Clayton-Smith
Trisomy 18 mosaicism: report of two cases.
Sofia Douzgou; Elizabeth Jones; Bronwyn Kerr; Kay Metcalfe; Catherine Breen; Kate Chandler; Yanick J Crow; Jill Clayton-Smith
Diagnosing fetal alcohol syndrome: new insights from newer genetic technologies.
Jane Caldwell; Lauren Kerzin-Storrar; Naz Khan; Kay Metcalfe; Natalie Moreton; William Newman; Clifford J Garratt
The clinical management of relatives of young sudden unexplained death victims; implantable defibrillators are rarely indicated.

Register for free to view:

Visualized networks:

See your personal network in
sophisticated graphical views

GeoTargeted Searches:

Locate experts around the world
and connect with global collaborators

Research Profiles:

See the research activity
of experts around the globe

Geonetwork of Kay Metcalfe (preview)

Cities where this author has publications
Cities where co-authors of this author have publications

Flash Player Required

All Publications

2013: Siddharth Banka; Kay Metcalfe; Jill Clayton-Smith
Trisomy 18 mosaicism: report of two cases.
World journal of pediatrics : WJP 2013;9(2):179-81.
2012: Sofia Douzgou; Elizabeth Jones; Bronwyn Kerr; Kay Metcalfe; Catherine Breen; Kate Chandler; Yanick J Crow; Jill Clayton-Smith
Diagnosing fetal alcohol syndrome: new insights from newer genetic technologies.
Archives of disease in childhood 2012;97(9):812-7.
2012: Jane Caldwell; Lauren Kerzin-Storrar; Naz Khan; Kay Metcalfe; Natalie Moreton; William Newman; Clifford J Garratt
The clinical management of relatives of young sudden unexplained death victims; implantable defibrillators are rarely indicated.
Heart (British Cardiac Society) 2012;98(8):631-6.
2008: William G Newman; Jill Clayton-Smith; Kay Metcalfe; Rachel Cole; Marco Tartaglia; Francesco Brancati; Sara Morara; Antonio Novelli; Xiangdong Liu; Katherine A Siminovitch; Stefan Mundlos; May Tassabehji; Graeme C M Black
Geroderma osteodysplastica maps to a 4 Mb locus on chromosome 1q24.
American journal of medical genetics. Part A 2008;146A(23):3034-7.
2005: Peter Hammond; Tim J Hutton; Judith E Allanson; Bernard Buxton; Linda E Campbell; Jill Clayton-Smith; Dian Donnai; Annette Karmiloff-Smith; Kay Metcalfe; Kieran C Murphy; Michael Patton; Barbara Pober; Katrina Prescott; Peter J Scambler; Adam Shaw; Ann C M Smith; Angela F Stevens; I Karen Temple; Raoul Hennekam; May Tassabehji
Discriminating power of localized three-dimensional facial morphology.
American journal of human genetics 2005;77(6):999-1010.
2005: May Tassabehji; Peter Hammond; Annette Karmiloff-Smith; Pamela Thompson; Snorri S Thorgeirsson; Marian E Durkin; Nicholas C Popescu; Tim J Hutton; Kay Metcalfe; Agnes Rucka; Helen Stewart; Andrew P Read; Mark Maconochie; Dian Donnai
GTF2IRD1 in craniofacial development of humans and mice.
Science (New York, N.Y.) 2005;310(5751):1184-7.
2005: Kay Metcalfe; Emil Simeonov; William Beckett; Dian Donnai; May Tassabehji
Autosomal dominant inheritance of Williams-Beuren syndrome in a father and son with haploinsufficiency for FKBP6.
Clinical dysmorphology 2005;14(2):61-5.
2004: Hannah J Tipney; Timothy A Hinsley; Andrew Brass; Kay Metcalfe; Dian Donnai; May Tassabehji
Isolation and characterisation of GTF2IRD2, a novel fusion gene and member of the TFII-I family of transcription factors, deleted in Williams-Beuren syndrome.
European journal of human genetics : EJHG 2004;12(7):551-60.
2003: Annette Karmiloff-Smith; J Grant; S Ewing; MJ Carette; Kay Metcalfe; Dian Donnai; Andrew P Read; May Tassabehji
Using case study comparisons to explore genotype-phenotype correlations in Williams-Beuren syndrome.
Journal of medical genetics 2003;40(2):136-40.
2000: Kay Metcalfe; Agnes Rucka; L Smoot; G Hofstadler; G Tuzler; P McKeown; V Siu; A Rauch; J Dean; N Dennis; I Ellis; W Reardon; C Cytrynbaum; L Osborne; J R Yates; Andrew P Read; Dian Donnai; May Tassabehji
Elastin: mutational spectrum in supravalvular aortic stenosis.
European journal of human genetics : EJHG 2000;8(12):955-63.
1999: May Tassabehji; MJ Carette; C Wilmot; Dian Donnai; Andrew P Read; Kay Metcalfe
A transcription factor involved in skeletal muscle gene expression is deleted in patients with Williams syndrome.
European journal of human genetics : EJHG 1999;7(7):737-47.
1999: E L Hockenhull; MJ Carette; Kay Metcalfe; Dian Donnai; Andrew P Read; May Tassabehji
A complete physical contig and partial transcript map of the Williams syndrome critical region.
Genomics 1999;58(2):138-45.
1999: May Tassabehji; Kay Metcalfe; Annette Karmiloff-Smith; MJ Carette; J Grant; N Dennis; W Reardon; M Splitt; Andrew P Read; Dian Donnai
Williams syndrome: use of chromosomal microdeletions as a tool to dissect cognitive and physical phenotypes.
American journal of human genetics 1999;64(1):118-25.
1998: May Tassabehji; Kay Metcalfe; J Hurst; G S Ashcroft; C Kielty; C Wilmot; Dian Donnai; Andrew P Read; C J Jones
An elastin gene mutation producing abnormal tropoelastin and abnormal elastic fibres in a patient with autosomal dominant cutis laxa.
Human molecular genetics 1998;7(6):1021-8.
1997: May Tassabehji; Kay Metcalfe; Dian Donnai; J Hurst; W Reardon; M Burch; Andrew P Read
Elastin: genomic structure and point mutations in patients with supravalvular aortic stenosis.
Human molecular genetics 1997;6(7):1029-36.
1997: A Gladwin; Dian Donnai; Kay Metcalfe; C Schrander-Stumpel; Louise A Brueton; Alain Verloes; Arthur S Aylsworth; H Toriello; R Winter; M Dixon
Localization of a gene for oculodentodigital syndrome to human chromosome 6q22-q24.
Human molecular genetics 1997;6(1):123-7.
1996: May Tassabehji; Kay Metcalfe; William Fergusson; MJ Carette; J K Dore; Dian Donnai; Andrew P Read; C Pröschel; N J Gutowski; X Mao; Denise Sheer
LIM-kinase deleted in Williams syndrome.
Nature genetics 1996;13(3):272-3.