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Variations in PROKR2, but not PROK2, are associated with hypopituitarism and septo-optic dysplasia.
Published in:
2013
By:
- McCabe, Mark J;
- Gaston-Massuet, Carles;
- Gregory, Louise C;
- Alatzoglou, Kyriaki S;
- Tziaferi, Vaitsa;
- Sbai, Oualid;
- Rondard, Philippe;
- Masumoto, Koh-Hei;
- Nagano, Mamoru;
- Shigeyoshi, Yasufumi;
- Pfeifer, Marija;
- Hulse, Tony;
- Buchanan, Charles R;
- Pitteloud, Nelly;
- Martinez-Barbera, Juan-Pedro;
- Dattani, Mehul T
Publication type:
journal article
Interstage somatic growth in children with hypoplastic left heart syndrome after initial palliation with the hybrid procedure.
Published in:
2017
By:
- Chan, Fiona T. S.;
- Bellsham-Revell, Hannah R.;
- Duggan, Hannah;
- Simpson, John M.;
- Hulse, Tony;
- Bell, Aaron J.
Publication type:
journal article
Genetic Analysis of Pediatric Primary Adrenal Insufficiency of Unknown Etiology: 25 Years' Experience in the UK.
Published in:
Journal of the Endocrine Society, 2021, v. 5, n. 8, p. 1, doi. 10.1210/jendso/bvab086
By:
- Buonocore, Federica;
- Maharaj, Avinaash;
- Qamar, Younus;
- Koehler, Katrin;
- Suntharalingham, Jenifer P;
- Chan, Li F;
- Ferraz-de-Souza, Bruno;
- Hughes, Claire R;
- Lin, Lin;
- Prasad, Rathi;
- Allgrove, Jeremy;
- Andrews, Edward T;
- Buchanan, Charles R;
- Cheetham, Tim D;
- Crowne, Elizabeth C;
- Davies, Justin H;
- Gregory, John W;
- Hindmarsh, Peter C;
- Hulse, Tony;
- Krone, Nils P
Publication type:
Article
Beware of the jolly toddler who has not read the right textbooks.
Published in:
2022
By:
- Ponmani, Caroline;
- Hulse, Tony
Publication type:
journal article
What does SARS‐CoV‐2 tell us about the aetiology of environmental triggers for diabetes in children and young people?
Published in:
Acta Paediatrica, 2023, v. 112, n. 12, p. 2462, doi. 10.1111/apa.16971
By:
- Ponmani, Caroline;
- Lyttle, Mark D.;
- Barrett, Michael;
- Hulse, Tony;
- Nijman, Ruud G.;
- Roland, Damian
Publication type:
Article
Adaptor protein-2 sigma subunit mutations causing familial hypocalciuric hypercalcaemia type 3 (FHH3) demonstrate genotype--phenotype correlations, codon bias and dominant-negative effects.
Published in:
Human Molecular Genetics, 2015, v. 24, n. 18, p. 5079, doi. 10.1093/hmg/ddv226
By:
- Hannan, Fadil M.;
- Howies, Sarah A.;
- Rogers, Angela;
- Cranston, Treena;
- Gorvin, Caroline M.;
- Babinsky, Valerie N.;
- Reed, Anita A.;
- Thakker, Clare E.;
- Bockenhauer, Detlef;
- Brown, Rosalind S.;
- Connell, John M.;
- Cook, Jacqueline;
- Darzy, Ken;
- Ehtisham, Sarah;
- Graham, Una;
- Hulse, Tony;
- Hunter, Steven J.;
- Izatt, Louise;
- Kumar, Dhavendra;
- McKenna, Malachi J.
Publication type:
Article
Xq27.1 Duplication Encompassing SOX3: Variable Phenotype and Smallest Duplication Associated with Hypopituitarism to Date – A Large Case Series of Unrelated Patients and a Literature Review.
Published in:
Hormone Research in Paediatrics, 2019, v. 92, n. 6, p. 382, doi. 10.1159/000503784
By:
- Arya, Ved Bhushan;
- Chawla, Garima;
- Nambisan, Aparna K.R.;
- Muhi-Iddin, Nadia;
- Vamvakiti, Ekaterini;
- Ajzensztejn, Michal;
- Hulse, Tony;
- Ferreira Pinto, Clare;
- Lahiri, Nayana;
- Bint, Susan;
- Buchanan, Charles R.;
- Kapoor, Ritika R.
Publication type:
Article
Investigating the role of somatic sequencing platforms for phaeochromocytoma and paraganglioma in a large UK cohort.
Published in:
Clinical Endocrinology, 2022, v. 97, n. 4, p. 448, doi. 10.1111/cen.14639
By:
- Winzeler, Bettina;
- Tufton, Nicola;
- S. Lim, Eugenie;
- Challis, Ben G.;
- Park, Soo‐Mi;
- Izatt, Louise;
- Carroll, Paul V.;
- Velusamy, Anand;
- Hulse, Tony;
- Whitelaw, Benjamin C.;
- Martin, Ezequiel;
- Rodger, Fay;
- Maranian, Melanie;
- Clark, Graeme R.;
- A. Akker, Scott;
- Maher, Eamonn R.;
- Casey, Ruth T.
Publication type:
Article
Prolactinoma in childhood and adolescence—Tumour size at presentation predicts management strategy: Single centre series and a systematic review and meta‐analysis.
Published in:
Clinical Endocrinology, 2021, v. 94, n. 3, p. 413, doi. 10.1111/cen.14394
By:
- Arya, Ved Bhushan;
- Aylwin, Simon J. B.;
- Hulse, Tony;
- Ajzensztejn, Michal;
- Kalitsi, Jennifer;
- Kalogirou, Nicolas;
- Bodi, Istvan;
- Thomas, Nick;
- Hampton, Tim;
- Kapoor, Ritika R.;
- Buchanan, Charles R.
Publication type:
Article
High‐dose biotin in infants mimics biochemical hyperthyroidism with some commercial assays.
Published in:
Clinical Endocrinology, 2018, v. 88, n. 3, p. 507, doi. 10.1111/cen.13547
By:
- Arya, Ved Bhushan;
- Ajzensztejn, Michal;
- Appleby, Gayle;
- Oddy, Sue;
- Halsall, David;
- Chatterjee, Krishna;
- Moran, Carla;
- Hulse, Tony
Publication type:
Article

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