Pesquisa | Portal de Pesquisa da BVS Enfermagem

1.

COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay.

Marom, Ronit; Burrage, Lindsay C; Venditti, Rossella; Clément, Aurélie; Blanco-Sánchez, Bernardo; Jain, Mahim; Scott, Daryl A; Rosenfeld, Jill A; Sutton, V Reid; Shinawi, Marwan; Mirzaa, Ghayda; DeVile, Catherine; Roberts, Rowenna; Calder, Alistair D; Allgrove, Jeremy; Grafe, Ingo; Lanza, Denise G; Li, Xiaohui; Joeng, Kyu Sang; Lee, Yi-Chien; Song, I-Wen; Sliepka, Joseph M; Batkovskyte, Dominyka; Washington, Megan; Dawson, Brian C; Jin, Zixue; Jiang, Ming-Ming; Chen, Shan; Chen, Yuqing; Tran, Alyssa A; Emrick, Lisa T; Murdock, David R; Hanchard, Neil A; Zapata, Gladys E; Mehta, Nitesh R; Weis, Mary Ann; Scott, Abbey A; Tremp, Brenna A; Phillips, Jennifer B; Wegner, Jeremy; Taylor-Miller, Tashunka; Gibbs, Richard A; Muzny, Donna M; Jhangiani, Shalini N; Hicks, John; Stottmann, Rolf W; Dickinson, Mary E; Seavitt, John R; Heaney, Jason D; Eyre, David R.

Am J Hum Genet ; 108(9): 1710-1724, 2021 09 02.

Artigo em Inglês | MEDLINE | ID: mdl-34450031

2.

PTH Infusion for Seizures in Autosomal Dominant Hypocalcemia Type 1.

Sastre, Ana; Valentino, Kevin; Hannan, Fadil M; Lines, Kate E; Gluck, Anna K; Stevenson, Mark; Ryalls, Michael; Gorrigan, Rebecca J; Pullen, Debbie; Buck, Jackie; Sankaranarayanan, Sailesh; Allgrove, Jeremy; Thakker, Rajesh V; Gevers, Evelien F.

N Engl J Med ; 385(2): 189-191, 2021 07 08.

Artigo em Inglês | MEDLINE | ID: mdl-34233101

3.

Use of insulin pump therapy in children and adolescents with type 1 diabetes and its impact on metabolic control: comparison of results from three large, transatlantic paediatric registries.

Sherr, Jennifer L; Hermann, Julia M; Campbell, Fiona; Foster, Nicole C; Hofer, Sabine E; Allgrove, Jeremy; Maahs, David M; Kapellen, Thomas M; Holman, Naomi; Tamborlane, William V; Holl, Reinhard W; Beck, Roy W; Warner, Justin T.

Diabetologia ; 59(1): 87-91, 2016 Jan.

Artigo em Inglês | MEDLINE | ID: mdl-26546085

4.

Towards a safety net for management of 22q11.2 deletion syndrome: guidelines for our times.

Habel, Alex; Herriot, Richard; Kumararatne, Dinakantha; Allgrove, Jeremy; Baker, Kate; Baxendale, Helen; Bu'Lock, Frances; Firth, Helen; Gennery, Andrew; Holland, Anthony; Illingworth, Claire; Mercer, Nigel; Pannebakker, Merel; Parry, Andrew; Roberts, Anne; Tsai-Goodman, Beverly.

Eur J Pediatr ; 173(6): 757-65, 2014 Jun.

Artigo em Inglês | MEDLINE | ID: mdl-24384789

5.

GNAQ/GNA11 Mosaicism Is Associated with Abnormal Serum Calcium Indices and Microvascular Neurocalcification.

Knöpfel, Nicole; Zecchin, Davide; Richardson, Hanna; Polubothu, Satyamaanasa; Barberan-Martin, Sara; Cullup, Thomas; Gholam, Karolina; Heales, Simon; Krywawych, Steve; López-Balboa, Pablo; Muwanga-Nanyonjo, Noreen; Ogunbiyi, Olumide; Puvirajasinghe, Clinda; Solman, Lea; Swarbrick, Katherine; Syed, Samira B; Tahir, Zubair; Tisdall, Martin M; Allgrove, Jeremy; Chesover, Alexander D; Aylett, Sarah E; Jacques, Thomas S; Hannan, Fadil M; Löbel, Ulrike; Semple, Robert K; Thakker, Rajesh V; Kinsler, Veronica A.

J Invest Dermatol ; 144(4): 820-832.e9, 2024 Apr.

Artigo em Inglês | MEDLINE | ID: mdl-37802294

6.

Burosumab in management of X-linked hypophosphataemia: a retrospective cohort study of growth and serum phosphate levels.

Walker, Emma Yi Xiu; Lindsay, Timothy Alexander James; Allgrove, Jeremy; Marlais, Matko; Bockenhauer, Detlef; Hayes, Wesley.

Arch Dis Child ; 108(5): 379-384, 2023 05.

Artigo em Inglês | MEDLINE | ID: mdl-36717209

7.

Identification and characterization of novel parathyroid-specific transcription factor Glial Cells Missing Homolog B (GCMB) mutations in eight families with autosomal recessive hypoparathyroidism.

Bowl, Michael R; Mirczuk, Samantha M; Grigorieva, Irina V; Piret, Sian E; Cranston, Treena; Southam, Lorraine; Allgrove, Jeremy; Bahl, Shailini; Brain, Caroline; Loughlin, John; Mughal, Zulf; Ryan, Fiona; Shaw, Nick; Thakker, Yogini V; Tiosano, Dov; Nesbit, M Andrew; Thakker, Rajesh V.

Hum Mol Genet ; 19(10): 2028-38, 2010 May 15.

Artigo em Inglês | MEDLINE | ID: mdl-20190276

8.

Good practice recommendations on paediatric training programmes for health care professionals in the EU.

Waldron, Sheridan; Rurik, Imre; Madacsy, Laszlo; Donnasson-Eudes, Sylvie; Rosu, Mihaela; Skovlund, Søren Eik; Pankowska, Ewa; Allgrove, Jeremy.

Pediatr Diabetes ; 13 Suppl 16: 29-38, 2012 Sep.

Artigo em Inglês | MEDLINE | ID: mdl-22931222

9.

Non-collagen pathogenic variants resulting in the osteogenesis imperfecta phenotype in children: a single-country observational cohort study.

Thornley, Patrick; Bishop, Nicholas; Baker, Duncan; Brock, Joanna; Arundel, Paul; Burren, Christine; Smithson, Sarah; DeVile, Catherine; Crowe, Belinda; Allgrove, Jeremy; Saraff, Vrinda; Shaw, Nick; Balasubramanian, Meena.

Arch Dis Child ; 107(5): 486-490, 2022 05.

Artigo em Inglês | MEDLINE | ID: mdl-34750202

10.

Endocrine Diseases of Newborn: Epidemiology, Pathogenesis, Therapeutic Options, and Outcome "Current Insights Into Disorders of Calcium and Phosphate in the Newborn".

Taylor-Miller, Tashunka; Allgrove, Jeremy.

Front Pediatr ; 9: 600490, 2021.

Artigo em Inglês | MEDLINE | ID: mdl-33614549

11.

Genetic Analysis of Pediatric Primary Adrenal Insufficiency of Unknown Etiology: 25 Years' Experience in the UK.

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; Shah, Pratik; Shaikh, M Guftar; Roberts, Catherine; Clayton, Peter E; Dattani, Mehul T; Thomas, N Simon; Huebner, Angela; Clark, Adrian J; Metherell, Louise A; Achermann, John C.

J Endocr Soc ; 5(8): bvab086, 2021 Aug 01.

Artigo em Inglês | MEDLINE | ID: mdl-34258490

12.

Adolescents on basal-bolus insulin can fast during Ramadan.

Al-Khawari, Mona; Al-Ruwayeh, Ahlam; Al-Doub, Khaled; Allgrove, Jeremy.

Pediatr Diabetes ; 11(2): 96-100, 2010 Mar.

Artigo em Inglês | MEDLINE | ID: mdl-19947956

13.

Juvenile Paget's disease with compound heterozygous mutations in TNFRSF11B presenting with recurrent clavicular fractures and a mild skeletal phenotype.

Naot, Dorit; Wilson, Louise C; Allgrove, Jeremy; Adviento, Eleanor; Piec, Isabelle; Musson, David S; Cundy, Tim; Calder, Alistair D.

Bone ; 130: 115098, 2020 01.

Artigo em Inglês | MEDLINE | ID: mdl-31655221

14.

Case report: a 10-year-old girl with primary hypoparathyroidism and systemic lupus erythematosus.

Borysewicz-Sanczyk, Hanna; Sawicka, Beata; Michalak, Justyna; Wójtowicz, Jerzy; Dobrenko, Elzbieta; Konstantynowicz, Jerzy; Kemp, E Helen; Thakker, Rajesh V; Allgrove, Jeremy; Hannan, Fadil M; Bossowski, Artur.

J Pediatr Endocrinol Metab ; 33(9): 1231-1235, 2020 Sep 25.

Artigo em Inglês | MEDLINE | ID: mdl-32866121

15.

ISPAD Clinical Practice Consensus Guidelines 2014. Diabetic ketoacidosis and hyperglycemic hyperosmolar state.

Wolfsdorf, Joseph I; Allgrove, Jeremy; Craig, Maria E; Edge, Julie; Glaser, Nicole; Jain, Vandana; Lee, Warren W R; Mungai, Lucy N W; Rosenbloom, Arlan L; Sperling, Mark A; Hanas, Ragnar.

Pediatr Diabetes ; 15 Suppl 20: 154-79, 2014 Sep.

Artigo em Inglês | MEDLINE | ID: mdl-25041509

16.

A New Multisystem Disorder Caused by the Gαs Mutation p.F376V.

Biebermann, Heike; Kleinau, Gunnar; Schnabel, Dirk; Bockenhauer, Detlef; Wilson, Louise C; Tully, Ian; Kiff, Sarah; Scheerer, Patrick; Reyes, Monica; Paisdzior, Sarah; Gregory, John W; Allgrove, Jeremy; Krude, Heiko; Mannstadt, Michael; Gardella, Thomas J; Dattani, Mehul; Jüppner, Harald; Grüters, Annette.

J Clin Endocrinol Metab ; 104(4): 1079-1089, 2019 04 01.

Artigo em Inglês | MEDLINE | ID: mdl-30312418

17.

Voyages of Discovery.

Allgrove, Jeremy.

Endocr Dev ; 28: 1-6, 2015.

Artigo em Inglês | MEDLINE | ID: mdl-26138832

18.

Physiology of Calcium, Phosphate, Magnesium and Vitamin D.

Allgrove, Jeremy.

Endocr Dev ; 28: 7-32, 2015.

Artigo em Inglês | MEDLINE | ID: mdl-26138833

19.

Classification of Disorders of Bone and Calcium Metabolism.

Allgrove, Jeremy.

Endocr Dev ; 28: 291-318, 2015.

Artigo em Inglês | MEDLINE | ID: mdl-26138849

20.

A Practical Approach to Vitamin D Deficiency and Rickets.

Allgrove, Jeremy; Shaw, Nick J.

Endocr Dev ; 28: 119-133, 2015.

Artigo em Inglês | MEDLINE | ID: mdl-26138839

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COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay.

PTH Infusion for Seizures in Autosomal Dominant Hypocalcemia Type 1.

Use of insulin pump therapy in children and adolescents with type 1 diabetes and its impact on metabolic control: comparison of results from three large, transatlantic paediatric registries.

Towards a safety net for management of 22q11.2 deletion syndrome: guidelines for our times.

GNAQ/GNA11 Mosaicism Is Associated with Abnormal Serum Calcium Indices and Microvascular Neurocalcification.

Burosumab in management of X-linked hypophosphataemia: a retrospective cohort study of growth and serum phosphate levels.

Identification and characterization of novel parathyroid-specific transcription factor Glial Cells Missing Homolog B (GCMB) mutations in eight families with autosomal recessive hypoparathyroidism.

Good practice recommendations on paediatric training programmes for health care professionals in the EU.

Non-collagen pathogenic variants resulting in the osteogenesis imperfecta phenotype in children: a single-country observational cohort study.

Endocrine Diseases of Newborn: Epidemiology, Pathogenesis, Therapeutic Options, and Outcome "Current Insights Into Disorders of Calcium and Phosphate in the Newborn".

Genetic Analysis of Pediatric Primary Adrenal Insufficiency of Unknown Etiology: 25 Years' Experience in the UK.

Adolescents on basal-bolus insulin can fast during Ramadan.

Juvenile Paget's disease with compound heterozygous mutations in TNFRSF11B presenting with recurrent clavicular fractures and a mild skeletal phenotype.

Case report: a 10-year-old girl with primary hypoparathyroidism and systemic lupus erythematosus.

ISPAD Clinical Practice Consensus Guidelines 2014. Diabetic ketoacidosis and hyperglycemic hyperosmolar state.

A New Multisystem Disorder Caused by the Gαs Mutation p.F376V.

Voyages of Discovery.

Physiology of Calcium, Phosphate, Magnesium and Vitamin D.

Classification of Disorders of Bone and Calcium Metabolism.

A Practical Approach to Vitamin D Deficiency and Rickets.