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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
The Fibroblast Growth Factor Receptor 2 p. Ala172 Phe Mutation in Pfeiffer Syndrome- History Repeating Itself.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 1158, doi. 10.1002/ajmg.a.35842
By:
- Jay, Sally;
- Wiberg, Akira;
- Swan, Marc;
- Lester, Tracy;
- Williams, Louise J.;
- Taylor, Indira B.;
- Johnson, David;
- Wilkie, Andrew O.M.
Publication type:
Article
Pure de novo partial trisomy 6p in a girl with craniosynostosis.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 2, p. 343, doi. 10.1002/ajmg.a.35727
By:
- Varvagiannis, Konstantinos;
- Stefanidou, Amalia;
- Gyftodimou, Yolanda;
- Lord, Helen;
- Williams, Louise;
- Sarri, Catherine;
- Pandelia, Efi;
- Bazopoulou‐Kyrkanidou, Euterpe;
- Noakes, Charlotte;
- Lester, Tracy;
- Wilkie, Andrew O.M.;
- Petersen, Michael B.
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
Atypical Crouzon Syndrome With a Novel Cys62Arg Mutation in FGFR2 Presenting With Sagittal Synostosis.
Published in:
Cleft Palate Craniofacial Journal, 2012, v. 49, n. 3, p. 373, doi. 10.1597/11-185
By:
- Sharma, Vikram P.;
- Wall, Steven A.;
- Lord, Helen;
- Lester, Tracy;
- Wilkie, Andrew O.M
Publication type:
Article
Gross deletions in TCOF1 are a cause of Treacher-Collins-Franceschetti syndrome.
Published in:
European Journal of Human Genetics, 2012, v. 20, n. 7, p. 769, doi. 10.1038/ejhg.2012.2
By:
- Bowman, Michael;
- Oldridge, Michael;
- Archer, Caroline;
- O'Rourke, Anthony;
- McParland, Joanna;
- Brekelmans, Roel;
- Seller, Anneke;
- Lester, Tracy
Publication type:
Article
BTKbase, mutation database for X‐linked agammaglobulinemia (XLA).
Published in:
Nucleic Acids Research, 1998, v. 26, n. 1, p. 244
By:
- Vihinen, Mauno;
- Brandau, Oliver;
- Brandén, Lars J.;
- Kwan, Sau‐Ping;
- Lappalainen, Ilkka;
- Lester, Tracy;
- Noordzij, Jeroen G.;
- Ochs, Hans D.;
- Ollila, Juha;
- Pienaar, Sandy M.;
- Riikonen, Pentti;
- Saha, Bratin K.;
- Smith, C. I. Edvard
Publication type:
Article
BTKbase, mutation database for X-linked agammaglobulinemia (XLA).
Published in:
Nucleic Acids Research, 1997, v. 25, n. 1, p. 166, doi. 10.1093/nar/25.1.166
By:
- Vihinen, Mauno;
- Belohradsky, Bernd H.;
- Haire, Robert N.;
- Holinski-Feder, Elke;
- Kwan, Sau-Ping;
- Lappalainen, Ilkka;
- Lehväslaiho, Heikki;
- Lester, Tracy;
- Meindl, Alfons;
- Ochs, Hans D.;
- Ollila, Juha;
- Vorechovsky, Igor;
- Weiss, Michael;
- Smith, C. I. Edvard
Publication type:
Article
The prevalence and phenotypic range associated with biallelic PKDCC variants.
Published in:
Clinical Genetics, 2023, v. 104, n. 1, p. 121, doi. 10.1111/cge.14324
By:
- Pagnamenta, Alistair T.;
- Belles, Rebecca S.;
- Salbert, Bonnie Anne;
- Wentzensen, Ingrid M.;
- Guillen Sacoto, Maria J.;
- Santos, Francis Jeshira Reynoso;
- Caffo, Alesky;
- Ferla, Matteo;
- Banos‐Pinero, Benito;
- Pawliczak, Karolina;
- Makvand, Mina;
- Najmabadi, Hossein;
- Maroofian, Reza;
- Lester, Tracy;
- Yanez‐Felix, Ana Lucia;
- Villarroel‐Cortes, Camilo E.;
- Xia, Fan;
- Al Fayez, Khowla;
- Al Hashem, Amal;
- Shears, Deborah
Publication type:
Article
Congenital hallux valgus occurs in Fibrodysplasia Ossificans Progressiva and BMPR1B-associated dysplasia: an important distinction.
Published in:
2024
By:
- Shirodkar, Diksha;
- Smithson, Sarah Francesca;
- Keen, Richard;
- Lester, Tracy;
- Banos-Pinero, Benito;
- Burren, Christine Pamela
Publication type:
Case Study
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
The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome.
Published in:
Human Molecular Genetics, 2012, v. 21, n. 17, p. 3765, doi. 10.1093/hmg/dds198
By:
- Cossins, Judith;
- Liu, Wei Wei;
- Belaya, Katsiaryna;
- Maxwell, Susan;
- Oldridge, Michael;
- Lester, Tracy;
- Robb, Stephanie;
- Beeson, David
Publication type:
Article
Rapid protein-based assays for the diagnosis of T<sup>–</sup>B<sup>+</sup> severe combined immunodeficiency.
Published in:
British Journal of Haematology, 2001, v. 112, n. 3, p. 671, doi. 10.1046/j.1365-2141.2001.02578.x
By:
- Gilmour, Kimberly C.;
- Cranston, Treena;
- Loughlin, Sam;
- Gwyther, Jackie;
- Lester, Tracy;
- Espanol, Teresa;
- Hernandez, Manuel;
- Savoldi, Gianfranco;
- Davies, E. Graham;
- Abinun, Mario;
- Kinnon, Christine;
- Jones, Alison;
- Gaspar, Hubert B.
Publication type:
Article
Duplication of the EFNB1 gene in familial hypertelorism: imbalance in ephrin-B1 expression and abnormal phenotypes in humans and mice.
Published in:
Human Mutation, 2011, v. 32, n. 8, p. 930, doi. 10.1002/humu.21521
By:
- Babbs, Christian;
- Stewart, Helen S.;
- Williams, Louise J.;
- Connell, Lyndsey;
- Goriely, Anne;
- Twigg, Stephen R.F.;
- Smith, Kim;
- Lester, Tracy;
- Wilkie, Andrew O.M.
Publication type:
Article
Mutations of the human BTK gene coding for bruton tyrosine kinase in X-linked agammaglobulinemia.
Published in:
Human Mutation, 1999, v. 13, n. 4, p. 280, doi. 10.1002/(SICI)1098-1004(1999)13:4<280::AID-HUMU3>3.0.CO;2-L
By:
- Vihinen, Mauno;
- Kwan, Sau-Ping;
- Lester, Tracy;
- Ochs, Hans D.;
- Resnick, Igor;
- Väliaho, Jouni;
- Conley, Mary Ellen;
- Smith, C.I. Edvard
Publication type:
Article
Implementation of a genomic medicine multi-disciplinary team approach for rare disease in the clinical setting: a prospective exome sequencing case series.
Published in:
Genome Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13073-019-0651-9
By:
- Taylor, John;
- Craft, Jude;
- Blair, Edward;
- Wordsworth, Sarah;
- Beeson, David;
- Chandratre, Saleel;
- Cossins, Judith;
- Lester, Tracy;
- Németh, Andrea H.;
- Ormondroyd, Elizabeth;
- Patel, Smita Y.;
- Pagnamenta, Alistair T.;
- Taylor, Jenny C.;
- Thomson, Kate L.;
- Watkins, Hugh;
- Wilkie, Andrew O. M.;
- Knight, Julian C.
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: 17