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Development of Erf-Mediated Craniosynostosis and Pharmacological Amelioration.
Published in:
International Journal of Molecular Sciences, 2023, v. 24, n. 9, p. 7961, doi. 10.3390/ijms24097961
By:
- Vogiatzi, Angeliki;
- Keklikoglou, Kleoniki;
- Makris, Konstantinos;
- Argyrou, Dionysia Stamatia;
- Zacharopoulos, Athanasios;
- Sotiropoulou, Varvara;
- Parthenios, Nikolaos;
- Gkikas, Angelos;
- Kokkori, Maria;
- Richardson, Melodie S. W.;
- Fenwick, Aimée L.;
- Archontidi, Sofia;
- Arvanitidis, Christos;
- Robertson, Jeremy;
- Parthenios, John;
- Zacharakis, Giannis;
- Twigg, Stephen R. F.;
- Wilkie, Andrew O. M.;
- Mavrothalassitis, George
Publication type:
Article
ERF‐related craniosynostosis: The phenotypic and developmental profile of a new craniosynostosis syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 4, p. 615, doi. 10.1002/ajmg.a.61073
By:
- Glass, Graeme E.;
- O'Hara, Justine;
- Canham, Natalie;
- Cilliers, Deirdre;
- Dunaway, David;
- Fenwick, Aimee L.;
- Jeelani, Noor‐Owase;
- Johnson, David;
- Lester, Tracy;
- Lord, Helen;
- Morton, Jenny E. V.;
- Nishikawa, Hiroshi;
- Noons, Peter;
- Schwiebert, Kemmy;
- Shipster, Caroleen;
- Taylor‐Beadling, Alison;
- Twigg, Stephen R. F.;
- Vasudevan, Pradeep;
- Wall, Steven A.;
- Wilkie, Andrew O. M.
Publication type:
Article
TCF12 microdeletion in a 72-year-old woman with intellectual disability.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 8, p. 1897, doi. 10.1002/ajmg.a.37083
By:
- Piard, Juliette;
- Rozé, Virginie;
- Czorny, Alain;
- Lenoir, Marion;
- Valduga, Mylène;
- Fenwick, Aimée L.;
- Wilkie, Andrew O. M.;
- Maldergem, Lionel Van
Publication type:
Article
Factors influencing success of clinical genome sequencing across a broad spectrum of disorders.
Published in:
Nature Genetics, 2015, v. 47, n. 7, p. 717, doi. 10.1038/ng.3304
By:
- Taylor, Jenny C;
- Copley, Richard R;
- Craft, Jude;
- Howard, Malcolm;
- Pagnamenta, Alistair;
- Popitsch, Niko;
- Tomlinson, Ian;
- Bull, Katherine;
- Cais, Ondrej;
- Greger, Ingo H;
- Cario, Holger;
- Chapel, Helen;
- Patel, Smita Y;
- van Schouwenburg, Pauline A;
- Cornall, Richard;
- Dahan, Karin;
- Dendrou, Calliope;
- Fugger, Lars;
- Devuyst, Olivier;
- Fenwick, Aimée L
Publication type:
Article
Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis.
Published in:
Nature Genetics, 2013, v. 45, n. 10, p. 1261, doi. 10.1038/ng1013-1261a
By:
- Sharma, Vikram P;
- Fenwick, Aimée L;
- Brockop, Mia S;
- McGowan, Simon J;
- Goos, Jacqueline A C;
- Hoogeboom, A Jeannette M;
- Brady, Angela F;
- Jeelani, Nu Owase;
- Lynch, Sally Ann;
- Mulliken, John B;
- Murray, Dylan J;
- Phipps, Julie M;
- Sweeney, Elizabeth;
- Tomkins, Susan E;
- Wilson, Louise C;
- Bennett, Sophia;
- Cornall, Richard J;
- Broxholme, John;
- Kanapin, Alexander;
- Johnson, David
Publication type:
Article
Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis.
Published in:
Nature Genetics, 2013, v. 45, n. 3, p. 304, doi. 10.1038/ng.2531
By:
- Sharma, Vikram P;
- Fenwick, Aimée L;
- Brockop, Mia S;
- McGowan, Simon J;
- Goos, Jacqueline A C;
- Hoogeboom, A Jeannette M;
- Brady, Angela F;
- Jeelani, Nu Owase;
- Lynch, Sally Ann;
- Mulliken, John B;
- Murray, Dylan J;
- Phipps, Julie M;
- Sweeney, Elizabeth;
- Tomkins, Susan E;
- Wilson, Louise C;
- Bennett, Sophia;
- Cornall, Richard J;
- Broxholme, John;
- Kanapin, Alexander;
- Johnson, David
Publication type:
Article
Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis.
Published in:
Nature Genetics, 2013, v. 45, n. 3, p. 308, doi. 10.1038/ng.2539
By:
- Twigg, Stephen R F;
- Vorgia, Elena;
- McGowan, Simon J;
- Peraki, Ioanna;
- Fenwick, Aimée L;
- Sharma, Vikram P;
- Allegra, Maryline;
- Zaragkoulias, Andreas;
- Akha, Elham Sadighi;
- Knight, Samantha J L;
- Lord, Helen;
- Lester, Tracy;
- Izatt, Louise;
- Lampe, Anne K;
- Mohammed, Shehla N;
- Stewart, Fiona J;
- Verloes, Alain;
- Wilson, Louise C;
- Healy, Chris;
- Sharpe, Paul T
Publication type:
Article
Localized TWIST1 and TWIST2 basic domain substitutions cause four distinct human diseases that can be modeled in Caenorhabditis elegans.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 11, p. 2118, doi. 10.1093/hmg/ddx107
By:
- Sharon Kim;
- Twigg, Stephen R. F.;
- Scanlon, Victoria A.;
- Chandra, Aditi;
- Hansen, Tyler J.;
- Alsubait, Arwa;
- Fenwick, Aimee L.;
- McGowan, Simon J.;
- Lord, Helen;
- Lester, Tracy;
- Sweeney, Elizabeth;
- Weber, Astrid;
- Cox, Helen;
- Wilkie, Andrew O. M.;
- Golden, Andy;
- Corsi, Ann K.
Publication type:
Article
Disruption of TWIST1 translation by 5′ UTR variants in Saethre‐Chotzen syndrome.
Published in:
Human Mutation, 2018, v. 39, n. 10, p. 1360, doi. 10.1002/humu.23598
By:
- Zhou, Yan;
- Koelling, Nils;
- Fenwick, Aimée L.;
- McGowan, Simon J.;
- Calpena, Eduardo;
- Wall, Steven A.;
- Smithson, Sarah F.;
- Wilkie, Andrew O. M.;
- Twigg, Stephen R. F.
Publication type:
Article
Identification of Intragenic Exon Deletions and Duplication of TCF12 by Whole Genome or Targeted Sequencing as a Cause of TCF12-Related Craniosynostosis.
Published in:
Human Mutation, 2016, v. 37, n. 8, p. 732, doi. 10.1002/humu.23010
By:
- Goos, Jacqueline A.C.;
- Fenwick, Aimee L.;
- Swagemakers, Sigrid M.A.;
- McGowan, Simon J.;
- Knight, Samantha J.L.;
- Twigg, Stephen R.F.;
- Hoogeboom, A. Jeannette M.;
- Dooren, Marieke F.;
- Magielsen, Frank J.;
- Wall, Steven A.;
- Mathijssen, Irene M.J.;
- Wilkie, Andrew O.M.;
- Spek, Peter J.;
- Ouweland, Ans M.W.
Publication type:
Article
Apparently synonymous substitutions in FGFR2 affect splicing and result in mild Crouzon syndrome.
Published in:
2014
By:
- Fenwick, Aimee L.;
- Goos, Jacqueline A. C.;
- Rankin, Julia;
- Lord, Helen;
- Lester, Tracy;
- Hoogeboom, A. Jeannette M.;
- van den Ouweland, Ans M. W.;
- Wall, Steven A.;
- Mathijssen, Irene M. J.;
- Wilkie, Andrew O. M.
Publication type:
Case Study

Found: 11