Works matching AU Metcalfe, Kay

Results: 24

Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex.

Published in:

Human Mutation, 2011, v. 32, n. 4, p. 424, doi. 10.1002/humu.21451

By:

Hoogeveen-Westerveld, Marianne;
Wentink, Marjolein;
van den Heuvel, Diana;
Mozaffari, Melika;
Ekong, Rosemary;
Povey, Sue;
den Dunnen, Johan T.;
Metcalfe, Kay;
Vallee, Stephanie;
Krueger, Stefan;
Bergoffen, JoAnn;
Shashi, Vandana;
Elmslie, Frances;
Kwiatkowski, David;
Sampson, Julian;
Vidales, Concha;
Dzarir, Jacinta;
Garcia-Planells, Javier;
Dies, Kira;
Maat-Kievit, Anneke

Publication type:

Article

Ten novel FBN2 mutations in congenital contractural arachnodactyly: Delineation of the molecular pathogenesis and clinical phenotype.

Published in:

Human Mutation, 2002, v. 19, n. 1, p. 39, doi. 10.1002/humu.10017

By:

Gupta, Prateek A.;
Putnam, Elizabeth A.;
Carmical, Sonya G.;
Kaitila, Ilkka;
Steinmann, Beat;
Child, Anne;
Danesino, Cesare;
Metcalfe, Kay;
Berry, Susan A.;
Chen, Emily;
Delorme, Catherine Vincent;
Thong, Meow-Keong;
Adès, Lesley C.;
Milewicz, Dianna M.

Publication type:

Article

A survey of TWIST for mutations in craniosynostosis reveals a variable length polyglycine tract in asymptomatic individuals.

Published in:

Human Mutation, 2001, v. 18, n. 6, p. 535, doi. 10.1002/humu.1230

By:

Elanko, Navaratnam;
Sibbring, Julie S.;
Metcalfe, Kay A.;
Clayton-Smith, Jill;
Donnai, Dian;
Temple, I. Karen;
Wall, Steven A.;
Wilkie, Andrew O.M.

Publication type:

Article

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

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 7, p. 551, doi. 10.1038/sj.ejhg.5201174

By:

Tipney, Hannah J.;
Hinsley, Timothy A.;
Brass, Andrew;
Metcalfe, Kay;
Donnai, Dian;
Tassabehji, May

Publication type:

Article

Elastin: mutational spectrum in supravalvular aortic stenosis.

Published in:

European Journal of Human Genetics, 2000, v. 8, n. 12, p. 955, doi. 10.1038/sj.ejhg.5200564

By:

Metcalfe, Kay;
Rucka, Agnes K;
Smoot, Leslie;
Hofstadler, Guenter;
Tuzler, Gerald;
McKeown, Pascal;
Siu, Victoria;
Rauch, Anita;
Dean, John;
Dennis, Nick;
Ellis, Ian;
Reardon, William;
Cytrynbaum, Cheryl;
Osborne, Lucy;
Yates, John R;
Read, Andrew P;
Donnai, Dian;
Tassabehji, Mayada

Publication type:

Article

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

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 7, p. 737, doi. 10.1038/sj.ejhg.5200396

By:

Tassabehji, Mayada;
Carette, Martin;
Wilmot, Carrie;
Donnai, Dian;
Read, Andrew P;
Metcalfe, Kay

Publication type:

Article

Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin.

Published in:

Nature Genetics, 2008, v. 40, n. 12, p. 1410, doi. 10.1038/ng.252

By:

Hennies, Hans Christian;
Kornak, Uwe;
Haikuo Zhang;
Egerer, Johannes;
Xin Zhang;
Seifert, Wenke;
Kühnisch, Jirko;
Budde, Birgit;
Nätebus, Marc;
Brancati, Francesco;
Wilcox, William R.;
Müller, Dietmar;
Kaplan, Paige B.;
Rajab, Anna;
Zampino, Giuseppe;
Fodale, Valentina;
Dallapiccola, Bruno;
Newman, William;
Metcalfe, Kay;
Clayton-Smith, Jill

Publication type:

Article

Fragile X syndrome: an overview.

Published in:

Obstetrician & Gynaecologist, 2011, v. 13, n. 2, p. 92, doi. 10.1576/toag.13.2.92.27652

By:

Bambang, Katerina;
Metcalfe, Kay;
Newman, William;
McFarlane, Tom

Publication type:

Article

The clinical presentation caused by truncating CHD8 variants.

Published in:

Clinical Genetics, 2019, v. 96, n. 1, p. 72, doi. 10.1111/cge.13554

By:

Douzgou, Sofia;
Liang, Hui Wen;
Metcalfe, Kay;
Somarathi, Suresh;
Tischkowitz, Marc;
Mohamed, Wafik;
Kini, Usha;
McKee, Shane;
Yates, Laura;
Bertoli, Marta;
Lynch, Sally Ann;
Holder, Susan;
Banka, Siddharth

Publication type:

Article

Interstitial 22q13 deletions not involving SHANK3 gene: A new contiguous gene syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1666, doi. 10.1002/ajmg.a.36513

By:

Disciglio, Vittoria;
Rizzo, Caterina Lo;
Mencarelli, Maria Antonietta;
Mucciolo, Mafalda;
Marozza, Annabella;
Di Marco, Chiara;
Massarelli, Antonio;
Canocchi, Valentina;
Baldassarri, Margherita;
Ndoni, Enea;
Frullanti, Elisa;
Amabile, Sonia;
Anderlid, Britt Marie;
Metcalfe, Kay;
Le Caignec, Cédric;
David, Albert;
Fryer, Alan;
Boute, Odile;
Joris, Andrieux;
Greco, Donatella

Publication type:

Article

Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia.

Published in:

2019

By:

Vaz, Frédéric M;
McDermott, John H;
Alders, Mariëlle;
Wortmann, Saskia B;
Kölker, Stefan;
Pras-Raves, Mia L;
Vervaart, Martin A T;
Lenthe, Henk van;
Luyf, Angela C M;
Elfrink, Hyung L;
Metcalfe, Kay;
Cuvertino, Sara;
Clayton, Peter E;
Yarwood, Rebecca;
Lowe, Martin P;
Lovell, Simon;
Rogers, Richard C;
Study, Deciphering Developmental Disorders;
Kampen, Antoine H C van;
Ruiter, Jos P N

Publication type:

journal article

EYA4, a novel vertebrate gene related to Drosophila eyes absent.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 1, p. 11, doi. 10.1093/hmg/8.1.11

By:

Borsani, Giuseppe;
DeGrandi, Alessandro;
Ballabio, Andrea;
Bulfone, Alessandro;
Bernard, Loris;
Banfi, Sandro;
Gattuso, Claudio;
Mariani, Margherita;
Dixon, Michael;
Donnai, Dian;
Metcalfe, Kay;
Winter, Robin;
Robertson, Marie;
Axton, Richard;
Brown, Alison;
van Heyningen, Veronica;
Hanson, Isabel

Publication type:

Article

An elastin gene mutation producing abnormal tropoelastin and abnormal elastic fibres in a patient with autosomal dominant cutis laxa.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 6, p. 1021, doi. 10.1093/hmg/7.6.1021

By:

Tassabehji, Mayada;
Metcalfe, Kay;
Hurst, Jane;
Ashcroft, Gillian S.;
Kielty, Cay;
Wilmot, Carrie;
Donnai, Dian;
Read, Andrew P.;
Jones, Carolyn J. P.

Publication type:

Article

Elastin: Genomic Structure and Point Mutations in Patients with Supravalvular Aortic Stenosis.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 7, p. 1029, doi. 10.1093/hmg/6.7.1029

By:

Tassabehji, Mayada;
Metcalfe, Kay;
Donnai, Dian;
Hurst, Jane;
Reardon, William;
Burch, Michael;
Read, Andrew P.

Publication type:

Article

Localization of a Gene for Oculodentodigital Syndrome to Human Chromosome 6q22–q24.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 1, p. 123, doi. 10.1093/hmg/6.1.123

By:

Gladwin, Amanda;
Donnai, Dian;
Metcalfe, Kay;
Schrander-Stumpel, Connie;
Brueton, Louise;
Verloes, Alain;
Aylsworth, Arthur;
Toriello, Helga;
Winter, Robin;
Dixon, Michael

Publication type:

Article

Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 6, p. 762, doi. 10.1038/ejhg.2013.241

By:

Horn, Denise;
Wieczorek, Dagmar;
Metcalfe, Kay;
Barić, Ivo;
Paležac, Lidija;
Ćuk, Mario;
Petković Ramadža, Danijela;
Krüger, Ulrike;
Demuth, Stephanie;
Heinritz, Wolfram;
Linden, Tobias;
Koenig, Jens;
Robinson, Peter N;
Krawitz, Peter

Publication type:

Article

How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 4, p. 381, doi. 10.1038/ejhg.2011.220

By:

Banka, Siddharth;
Veeramachaneni, Ratna;
Reardon, William;
Howard, Emma;
Bunstone, Sancha;
Ragge, Nicola;
Parker, Michael J;
Crow, Yanick J;
Kerr, Bronwyn;
Kingston, Helen;
Metcalfe, Kay;
Chandler, Kate;
Magee, Alex;
Stewart, Fiona;
McConnell, Vivienne P M;
Donnelly, Deirdre E;
Berland, Siren;
Houge, Gunnar;
Morton, Jenny E;
Oley, Christine

Publication type:

Article

Bohring-Opitz (Oberklaid-Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 5, p. 513, doi. 10.1038/ejhg.2010.234

By:

Hastings, Rob;
Cobben, Jan-Maarten;
Gillessen-Kaesbach, Gabriele;
Goodship, Judith;
Hove, Hanne;
Kjaergaard, Susanne;
Kemp, Helena;
Kingston, Helen;
Lunt, Peter;
Mansour, Sahar;
McGowan, Ruth;
Metcalfe, Kay;
Murdoch-Davis, Catherine;
Ray, Mary;
Rio, Marlène;
Smithson, Sarah;
Tolmie, John;
Turnpenny, Peter;
van Bon, Bregje;
Wieczorek, Dagmar

Publication type:

Article

Trisomy 18 mosaicism: report of two cases.

Published in:

World Journal of Pediatrics, 2013, v. 9, n. 2, p. 179, doi. 10.1007/s12519-011-0280-x

By:

Banka, Siddharth;
Metcalfe, Kay;
Clayton-Smith, Jill

Publication type:

Article

The diagnostic utility of clinical exome sequencing in 60 patients with hearing loss disorders: A single‐institution experience.

Published in:

Clinical Otolaryngology, 2021, v. 46, n. 6, p. 1257, doi. 10.1111/coa.13826

By:

Molina‐Ramírez, Leslie P.;
Burkitt‐Wright, Emma MM.;
Saeed, Haroon;
McDermott, John H.;
Kyle, Claire;
Wright, Ronnie;
Campbell, Christopher;
Bhaskar, Sanjeev S.;
Taylor, Algy;
Dutton, Laura;
Forde, Claire;
Metcalfe, Kay;
Smith, Audrey;
Clayton‐Smith, Jill;
Douzgou, Sofia;
Chandler, Kate;
Briggs, Tracy A.;
Banka, Siddharth;
Newman, William G.;
Gokhale, David

Publication type:

Article

Case Report: Prolonged survival in Schinzel–Giedion syndrome featuring megaureter and de novo SETBP1 mutation.

Published in:

Frontiers in Pediatrics, 2025, p. 1, doi. 10.3389/fped.2025.1534192

By:

Beaman, Glenda M.;
Jarvis, Benjamin W.;
Goyal, Anju;
Keene, David J. B.;
Cervellione, Max;
Lopes, Filipa M.;
Metcalfe, Kay A.;
Woolf, Adrian S.;
Newman, William G.

Publication type:

Article

Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases.

Published in:

Epilepsia (Series 4), 2017, v. 58, n. 4, p. 565, doi. 10.1111/epi.13669

By:

Symonds, Joseph D.;
Joss, Shelagh;
Metcalfe, Kay A.;
Somarathi, Suresh;
Cruden, Jamie;
Devlin, Anita M.;
Donaldson, Alan;
DiDonato, Nataliya;
Fitzpatrick, David;
Kaiser, Frank J.;
Lampe, Anne K.;
Lees, Melissa M.;
McLellan, Ailsa;
Montgomery, Tara;
Mundada, Vivek;
Nairn, Lesley;
Sarkar, Ajoy;
Schallner, Jens;
Pozojevic, Jelena;
Parenti, Ilaria

Publication type:

Article

Author Correction: Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood.

Published in:

2021

By:

Levy, Michael A.;
Beck, David B.;
Metcalfe, Kay;
Douzgou, Sofia;
Sithambaram, Sivagamy;
Cottrell, Trudie;
Ansar, Muhammad;
Kerkhof, Jennifer;
Mignot, Cyril;
Nougues, Marie-Christine;
Keren, Boris;
Moore, Hannah W.;
Oegema, Renske;
Giltay, Jacques C.;
Simon, Marleen;
van Jaarsveld, Richard H.;
Bos, Jessica;
van Haelst, Mieke;
Motazacker, M. Mahdi;
Boon, Elles M. J.

Publication type:

Correction Notice

Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood.

Published in:

NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00256-y

By:

Levy, Michael A.;
Beck, David B.;
Metcalfe, Kay;
Douzgou, Sofia;
Sithambaram, Sivagamy;
Cottrell, Trudie;
Ansar, Muhammad;
Kerkhof, Jennifer;
Mignot, Cyril;
Nougues, Marie-Christine;
Keren, Boris;
Moore, Hannah W.;
Oegema, Renske;
Giltay, Jacques C.;
Simon, Marleen;
van Jaarsveld, Richard H.;
Bos, Jessica;
van Haelst, Mieke;
Motazacker, M. Mahdi;
Boon, Elles M. J.

Publication type:

Article