Endocrine Abstracts

Central hypothyroidism with extrathyroidal features due to a partial X-chromosome deletion involving the TBL1X locus
Walree Eva van; Soo-Mi Park; Elena Bochukova; Adeline K Nicholas; Greta Lyons; V Krishna Chatterjee; Nadia Schoenmakers
http://www.endocrine-abstracts.org/ea/0051/ea0051oc5.8.htm
Published: 2017-10-30

Activating mutation in the arginine vasopressin receptor AVPR2 resulting in nephrogenic syndrome of inappropriate antidiuresis in a female
Mohamed Ashif Majeed; Jennifer Hague; Andrew S Powlson; Julia Hale; Ruth Casey; Sue Oddy; Mark Gurnell; Soo-Mi Park; Helen Simps
http://www.endocrine-abstracts.org/ea/0050/ea0050cc06.htm
Published: 2017-10-20

Audit of patients with multiple endocrine neoplasia type 1 in a tertiary referral centre
Calum Goudie; Snigdha Reddy; Victoria Parker; Suzanne Curran; Pippa Corrie; Ashley Shaw; Neville Jamieson; Raaj Praseedom; Emman
http://www.endocrine-abstracts.org/ea/0031/ea0031p165.htm
Published: 2013-03-01

Phenotype–genotype analysis in a cohort of patients with multiple endocrine neoplasia type 1 identifies a novel nonsense mutation at codon 554
Snigdha Reddy; Calum Goudie; Victoria Parker; Soo-Mi Park; Becky Treacy; Helen Simpson
http://www.endocrine-abstracts.org/ea/0031/ea0031p151.htm
Published: 2013-03-01

A comprehensive next generation sequencing-based strategy for genetic diagnosis in congenital hypothyroidism
Nadia Schoenmakers; Hakan Cangul; Adeline K Nicholas; Erik Schoenmakers; Greta Lyons; Mehul Dattani; Catherine Peters; Shirley L
http://www.endocrine-abstracts.org/ea/0033/ea0033oc2.9.htm
Published: 2013-11-01

Investigating the genetic architecture of gland-in-situ congenital hypothyroidism by comprehensive screening of eight known causative genes
Adeline K Nicholas; Eva Goncalves Serra; Hakan Cangul; Saif Al-Yaarubi; Irfan Ullah; Abdelhadi Habeb; Asma Deeb; Catherine Peter
http://www.endocrine-abstracts.org/ea/0038/ea0038oc5.5.htm
Published: 2015-10-12

Breast Cancer in MEN1: Coincidence or association? | SFENCC2020
Seong Keat Cheah; Bisambar Chad; Deborah Pitfield; Olivier Giger; Hoopen Rogier ten; Jose Ezequiel Martin; Soo-Mi Park; Craig Pa
https://www.endocrine-abstracts.org/ea/0069/ea0069p62
Published: 2020-04-08

Breast Cancer in MEN1: Coincidence or association? | SFENCC2020
Seong Keat Cheah; Bisambar Chad; Deborah Pitfield; Olivier Giger; Hoopen Rogier ten; Jose Ezequiel Martin; Soo-Mi Park; Craig Pa
https://www.endocrine-abstracts.org/ea/0069/ea0069p62.htm
Published: 2020-04-08

A rare case of bilateral carotid body paragangliomas and associated Burkitt's lymphoma in patient with a germline SDHB mutation | SFENCC2020
James MacFarlane; Chad Bisambar; Ben Challis; Soo-Mi Park; Olivier Giger; Luigi Aloj; Ruth Casey
https://www.endocrine-abstracts.org/ea/0069/ea0069oc3
Published: 2020-04-08

A rare case of bilateral carotid body paragangliomas and associated Burkitt's lymphoma in patient with a germline SDHB mutation | SFENCC2020
James MacFarlane; Chad Bisambar; Ben Challis; Soo-Mi Park; Olivier Giger; Luigi Aloj; Ruth Casey
https://www.endocrine-abstracts.org/ea/0069/ea0069oc3.htm
Published: 2020-04-08