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Clinical MEN-1 Among a Large Cohort of Patients With Acromegaly.
Published in:
2020
By:
- Nachtigall, Lisa B;
- Guarda, Francisco J;
- Lines, Kate E;
- Ghajar, Alireza;
- Dichtel, Laura;
- Mumbach, Giselle;
- Zhao, Wenxiu;
- Zhang, Xun;
- Tritos, Nicholas A;
- Swearingen, Brooke;
- Miller, Karen K;
- Thakker, Rajesh V
Publication type:
journal article
Activating Mutations of the G-protein Subunit α 11 Interdomain Interface Cause Autosomal Dominant Hypocalcemia Type 2.
Published in:
2019
By:
- Gorvin, Caroline M;
- Stokes, Victoria J;
- Boon, Hannah;
- Cranston, Treena;
- Glück, Anna K;
- Bahl, Shailini;
- Homfray, Tessa;
- Aung, Theingi;
- Shine, Brian;
- Lines, Kate E;
- Hannan, Fadil M;
- Thakker, Rajesh V
Publication type:
journal article
Whole genome sequence analysis identifies a PAX2 mutation to establish a correct diagnosis for a syndromic form of hyperuricemia.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2521, doi. 10.1002/ajmg.a.61814
By:
- Stevenson, Mark;
- Pagnamenta, Alistair T.;
- Reichart, Silvia;
- Philpott, Charlotte;
- Lines, Kate E.;
- Gorvin, Caroline M.;
- Lhotta, Karl;
- Taylor, Jenny C.;
- Thakker, Rajesh V.
Publication type:
Article
Bartter-Gitelman Spectrum: 50-Year Follow-up With Revision of Diagnosis After Whole-Genome Sequencing.
Published in:
Journal of the Endocrine Society, 2022, v. 6, n. 7, p. 1, doi. 10.1210/jendso/bvac079
By:
- Stevenson, Mark;
- Pagnamenta, Alistair T;
- Mack, Heather G;
- Savige, Judith;
- Giacopuzzi, Edoardo;
- Lines, Kate E;
- Taylor, Jenny C;
- Thakker, Rajesh V
Publication type:
Article
Multiple Endocrine Neoplasia Type 1 (MEN1) Phenocopy Due to a Cell Cycle Division 73 (CDC73) Variant.
Published in:
Journal of the Endocrine Society, 2020, v. 4, n. 11, p. 1, doi. 10.1210/jendso/bvaa142
By:
- Lines, Kate E;
- Nachtigall, Lisa B;
- Dichtel, Laura E;
- Cranston, Treena;
- Boon, Hannah;
- Zhang, Xun;
- Kooblall, Kreepa G;
- Stevenson, Mark;
- Thakker, Rajesh V
Publication type:
Article
Preclinical Models of Neuroendocrine Neoplasia.
Published in:
Cancers, 2022, v. 14, n. 22, p. 5646, doi. 10.3390/cancers14225646
By:
- Sedlack, Andrew J. H.;
- Saleh-Anaraki, Kimia;
- Kumar, Suresh;
- Ear, Po Hien;
- Lines, Kate E.;
- Roper, Nitin;
- Pacak, Karel;
- Bergsland, Emily;
- Quelle, Dawn E.;
- Howe, James R.;
- Pommier, Yves;
- del Rivero, Jaydira
Publication type:
Article
Association of prolactin receptor (PRLR) variants with prolactinomas.
Published in:
Human Molecular Genetics, 2019, v. 28, n. 6, p. 1023, doi. 10.1093/hmg/ddy396
By:
- Gorvin, Caroline M;
- Newey, Paul J;
- Rogers, Angela;
- Stokes, Victoria;
- Neville, Matt J;
- Lines, Kate E;
- Ntali, Georgia;
- Lees, Peter;
- Morrison, Patrick J;
- Singhellakis, Panagiotis N;
- Malandrinou, Fotini Ch;
- Karavitaki, Niki;
- Grossman, Ashley B;
- Karpe, Fredrik;
- Thakker, Rajesh V
Publication type:
Article
mi R-135b- and mi R-146b-dependent silencing of calcium-sensing receptor expression in colorectal tumors.
Published in:
International Journal of Cancer, 2016, v. 138, n. 1, p. 137, doi. 10.1002/ijc.29681
By:
- Fetahu, Irfete S.;
- Tennakoon, Samawansha;
- Lines, Kate E.;
- Gröschel, Charlotte;
- Aggarwal, Abhishek;
- Mesteri, Ildiko;
- Baumgartner ‐ Parzer, Sabina;
- Mader, Robert M.;
- Thakker, Rajesh V.;
- Kállay, Enikő
Publication type:
Article
Multiple Endocrine Neoplasia Type 1: Latest Insights.
Published in:
Endocrine Reviews, 2021, v. 42, n. 2, p. 133, doi. 10.1210/endrev/bnaa031
By:
- Brandi, Maria Luisa;
- Agarwal, Sunita K;
- Perrier, Nancy D;
- Lines, Kate E;
- Valk, Gerlof D;
- Thakker, Rajesh V
Publication type:
Article
Multiple Endocrine Neoplasia Type 1 (MEN1) 5′UTR Deletion, in MEN1 Family, Decreases Menin Expression.
Published in:
Journal of Bone & Mineral Research, 2021, v. 36, n. 1, p. 100, doi. 10.1002/jbmr.4156
By:
- Kooblall, Kreepa G;
- Boon, Hannah;
- Cranston, Treena;
- Stevenson, Mark;
- Pagnamenta, Alistair T;
- Rogers, Angela;
- Grozinsky‐Glasberg, Simona;
- Richardson, Tristan;
- Flanagan, Daniel EH;
- Taylor, Jenny C;
- Lines, Kate E;
- Thakker, Rajesh V
Publication type:
Article
Identification of cellular retinoic acid binding protein 2 (CRABP2) as downstream target of nuclear factor I/X (NFIX): implications for skeletal dysplasia syndromes.
Published in:
JBMR Plus, 2024, v. 8, n. 7, p. 1, doi. 10.1093/jbmrpl/ziae060
By:
- Kooblall, Kreepa G;
- Stevenson, Mark;
- Heilig, Raphael;
- Stewart, Michelle;
- Wright, Benjamin;
- Lockstone, Helen;
- Buck, David;
- Fischer, Roman;
- Wells, Sara;
- Lines, Kate E;
- Teboul, Lydia;
- Hennekam, Raoul C;
- Thakker, Rajesh V
Publication type:
Article

Found: 11