Zobrazeno 1 - 10
of 38
pro vyhledávání: '"Patrick Hanna"'
Autor:
Monica Reyes, Damla Firat, Patrick Hanna, Mohd Khan, Michael Bruce, Maria Shvedova, Tatsuya Kobayashi, Ernestina Schipani, Thomas J. Gardella, Harald Jüppner
Publikováno v:
JBMR Plus, Vol 7, Iss 10, Pp n/a-n/a (2023)
Abstract Activating parathyroid hormone (PTH)/PTH‐related Peptide (PTHrP) receptor (PTH1R) mutations causes Jansen's metaphyseal chondrodysplasia (JMC), a rare disease characterized by growth plate abnormalities, short stature, and PTH‐independen
Externí odkaz:
https://doaj.org/article/9644361ce3b2494ab05f44e05b127542
Autor:
Danny E Miller, Patrick Hanna, Miranda Galey, Monica Reyes, Agnès Linglart, Evan E Eichler, Harald Jüppner
Publikováno v:
Journal of Bone and Mineral Research. 37:1711-1719
Autor:
Patrick Hanna, Ashok Khatri, Shawn Choi, Severine Brabant, Matti L. Gild, Marie L. Piketty, Bruno Francou, Dominique Prié, John T. Potts, Roderick J. Clifton-Bligh, Agnès Linglart, Thomas J. Gardella, Harald Jüppner
Publikováno v:
Proceedings of the National Academy of Sciences. 120
Like other secreted peptides, nascent parathyroid hormone (PTH) is synthesized with a pre- and a pro-sequence (25 and 6 amino acids, respectively). These precursor segments are sequentially removed in parathyroid cells before packaging into secretory
Autor:
Zentaro Kiuchi, Harald Jüppner, Patrick Hanna, Robert C. Olney, Peter J. Tebben, Terry DeClue, Monica Reyes, Anu Sharma
Publikováno v:
J Clin Endocrinol Metab
Context Maternally inherited STX16 deletions that cause loss of methylation at GNAS exon A/B and thereby reduce Gsα expression are the most frequent cause of autosomal dominant pseudohypoparathyroidism type Ib (AD-PHP1B). Early identification of the
Autor:
Mark Patrick Hanna
Publikováno v:
Northern Ireland Legal Quarterly. 72:115-124
Case commentary on Foster v Jessen [2021] NIQB 56.
Autor:
Luisa De Sanctis, Francesca Elli, Guiomar Perez de Nanclares, Agnès Linglart, Susanne Thiele, Patrick Hanna, Giovanna Mantovani, Arrate Pereda, Bruno Francou, Diana-Alexandra Ertl, Anya Rothenbuhler
Publikováno v:
European Journal of Endocrinology. 184:311-320
Objective Pseudohypoparathyroidism and related disorders belong to a group of heterogeneous rare diseases that share an impaired signaling downstream of Gsα-protein-coupled receptors. Affected patients may present with various combination of symptom
Autor:
Serap Turan, Eileen M. Shore, Murat Bastepe, Olaf Hiort, Agnès Linglart, Francesca Elli, Roberto Bufo, Guiomar Perez de Nanclares, Michael A. Levine, Beatriz Lecumberri, M. Carola Zillikens, Rebeca Rodado, Vrinda Saraff, Ashley H. Shoemaker, Luisa De Sanctis, Guillemette Devernois, Gianpaolo De Filippo, Aurora Garcia Ramirez, Philip Murray, Susanne Thiele, Outi Mäkitie, Lars Rejnmark, Regina Matsunaga Martin, Manasori Minagawa, Timothee Choplin, Emily L. Germain-Lee, Giovanna Mantovani, Peter Kamenický, Harald Jüppner, Lionel Groussin, Nina Knight, Elvire Le Norcy, Anya Rothenbuhler, Neveen A. T. Hamdy, Robert J. Pignolo, David Monk, Thomas Eggermann, Caroline Silve, Arrate Pereda, Gabriel Á. Martos-Moreno, S Faisal Ahmed, Philip Woods, Patrick Hanna
Publikováno v:
Hormone Research in Paediatrics, 93(3), 182-196. Karger
Horm Res Paediatr
Mantovani, G, Bastepe, M, Monk, D, De Sanctis, L, Thiele, S, Ahmed, S F, Bufo, R, Choplin, T, De Filippo, G, Devernois, G, Eggermann, T, Elli, F M, Garcia Ramirez, A, Germain-Lee, E L, Groussin, L, Hamdy, N A T, Hanna, P, Hiort, O, Jüppner, H, Kamenický, P, Knight, N, Le Norcy, E, Lecumberri, B, Levine, M A, Mäkitie, O, Martin, R, Martos-Moreno, G Á, Minagawa, M, Murray, P, Pereda, A, Pignolo, R, Rejnmark, L, Rodado, R, Rothenbuhler, A, Saraff, V, Shoemaker, A H, Shore, E M, Silve, C, Turan, S, Woods, P, Zillikens, M C, Perez De Nanclares, G & Linglart, A 2020, ' Recommendations for Diagnosis and Treatment of Pseudohypoparathyroidism and Related Disorders : An Updated Practical Tool for Physicians and Patients ', Hormone Research in Paediatrics, vol. 93, no. 3, pp. 182-196 . https://doi.org/10.1159/000508985
Hormone Research in Paediatrics, 93(3), 182-196. KARGER
Horm Res Paediatr
Mantovani, G, Bastepe, M, Monk, D, De Sanctis, L, Thiele, S, Ahmed, S F, Bufo, R, Choplin, T, De Filippo, G, Devernois, G, Eggermann, T, Elli, F M, Garcia Ramirez, A, Germain-Lee, E L, Groussin, L, Hamdy, N A T, Hanna, P, Hiort, O, Jüppner, H, Kamenický, P, Knight, N, Le Norcy, E, Lecumberri, B, Levine, M A, Mäkitie, O, Martin, R, Martos-Moreno, G Á, Minagawa, M, Murray, P, Pereda, A, Pignolo, R, Rejnmark, L, Rodado, R, Rothenbuhler, A, Saraff, V, Shoemaker, A H, Shore, E M, Silve, C, Turan, S, Woods, P, Zillikens, M C, Perez De Nanclares, G & Linglart, A 2020, ' Recommendations for Diagnosis and Treatment of Pseudohypoparathyroidism and Related Disorders : An Updated Practical Tool for Physicians and Patients ', Hormone Research in Paediatrics, vol. 93, no. 3, pp. 182-196 . https://doi.org/10.1159/000508985
Hormone Research in Paediatrics, 93(3), 182-196. KARGER
Patients affected by pseudohypoparathyroidism (PHP) or related disorders are characterized by physical findings that may include brachydactyly, a short stature, a stocky build, early-onset obesity, ectopic ossifications, and neurodevelopmental defici
Autor:
Mark Patrick Hanna
Publikováno v:
Hanna, M P 2021, ' The ‘chilling effect’ of defamation law in Northern Ireland? A comparison with England and Wales in relation to the presumption of jury trial, the threshold of seriousness and the public interest defence ', Northern Ireland Legal Quarterly, vol. 72, no. AD3 . https://doi.org/10.53386/nilq.v72iAD3.951
This article compares defamation law in England and Wales with that of Northern Ireland and analyses whether the current law in Northern Ireland is having a ‘chilling effect’ on free speech. At the time of writing, the Northern Ireland Assembly i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa7ebc6c032bc01dec0c34deac4bb537
https://pure.qub.ac.uk/en/publications/05495c15-10dc-4600-8e46-b18594ee4c91
https://pure.qub.ac.uk/en/publications/05495c15-10dc-4600-8e46-b18594ee4c91
Autor:
Myrto Frangos, Chhavi Agarwal, Angelo Milioto, Peter J. Tebben, Patrick Hanna, Giovanna Mantovani, Monica Reyes, Giedre Grigelioniene, Verónica Mericq, Daniel Zeve, Zentaro Kiuchi, Serap Turan, Isidro B. Salusky, Any Chen, Harald Jüppner, Svetlana Ten
Publikováno v:
J Clin Endocrinol Metab
Context Pseudohypoparathyroidism type Ib (PHP1B) is characterized by hypocalcemia and hyperphosphatemia due to parathyroid hormone resistance in the proximal renal tubules. Maternal pathogenic STX16/GNAS variants leading to maternal epigenetic GNAS c
Autor:
Kuljeet Bhamra, Adnan D’Cunha Kamath, Patrick Hanna, Hannah Irvine, Lucy M Carter, Naim Rahimi, Ankita Sahni
Publikováno v:
Rheumatology (Oxford, England)
Background/Aims Individuals on immunosuppressive therapies were among those identified by the UK Department of Health and Chief Medical Officer as clinically extremely vulnerable to COVID-19. Advice on shielding from infection was disseminated by NHS