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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
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
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
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
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
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
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
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
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
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
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
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
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

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