Search Results - "Albanese, Assunta"

A Mutation in the Thyroid Hormone Receptor Alpha Gene by Bochukova, Elena, Schoenmakers, Nadia, Schoenmakers, Erik, Agostini, Maura, Rajanayagam, Odelia, Keogh, Julia M, Henning, Elana, Reinemund, Jana, Gevers, Evelien, Sarri, Margarita, Downes, Kate, Offiah, Amaka, Albanese, Assunta, Halsall, David, Schwabe, John W.R, Bain, Murray, Lindley, Keith, Muntoni, Francesco, Khadem, Faraneh Vargha, Dattani, Mehul, Farooqi, I. Sadaf, Gurnell, Mark, Chatterjee, Krishna

“…On whole-exome sequencing, a child with clinical hypothyroidism but borderline-abnormal thyroid hormone levels was found to have a heterozygous nonsense…”
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EANO, SNO and Euracan consensus review on the current management and future development of intracranial germ cell tumors in adolescents and young adults by Frappaz, Didier, Dhall, Girish, Murray, Matthew J, Goldman, Stuart, Faure Conter, Cecile, Allen, Jeffrey, Kortmann, Rolf Dieter, Haas-Kogen, Daphne, Morana, Giovanni, Finlay, Jonathan, Nicholson, James C, Bartels, Ute, Souweidane, Mark, Schönberger, Stefan, Vasiljevic, Alexandre, Robertson, Patricia, Albanese, Assunta, Alapetite, Claire, Czech, Thomas, Lau, Chin C, Wen, Patrick, Schiff, David, Shaw, Dennis, Calaminus, Gabriele, Bouffet, Eric

“…Abstract The incidence of intracranial germ cell tumors (iGCT) is much lower in European and North American (E&NA) than in Asian population. However, E&NA…”
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Endocrine manifestations of paediatric intracranial germ cell tumours: from diagnosis to long-term follow-up by Partenope, Cristina, Pozzobon, Gabriella, Weber, Giovanna, Arya, Ved Bhushan, Carceller, Fernando, Albanese, Assunta

“…Purpose We examined endocrine manifestations in a cohort of paediatric patients with IC-GCTs at diagnosis and during follow-up, integrating clinical,…”
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Case report: Fluctuating tumor markers in a boy with gonadotropin-releasing hormone-independent precocious puberty induced by a pineal germ cell tumor by Cattoni, Alessandro, Albanese, Assunta

“…GnRH-independent precocious puberty (GIPP) can be the presenting clinical picture experienced by patients with secreting germ cell tumor (GCT). Indeed, as…”
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Sex steroid priming in short stature children unresponsive to GH stimulation tests: Why, who, when and how by Partenope, Cristina, Galazzi, Elena, Albanese, Assunta, Bellone, Simonetta, Rabbone, Ivana, Persani, Luca

“…Despite decades of experience, the diagnosis of growth hormone deficiency (GHD) remains challenging, especially in peripubertal children. Failure to respond to…”
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Novel therapeutic approaches for pediatric diencephalic tumors: improving functional outcomes by Cockle, Julia V, Corley, Elizabeth A, Zebian, Bassel, Hettige, Samantha, Vaidya, Sucheta J, Angelini, Paola, Stone, Joanna, Leitch, R Jane, Albanese, Assunta, Mandeville, Henry C, Carceller, Fernando, Marshall, Lynley V

“…Pediatric diencephalic tumors represent a histopathologically and molecularly diverse group of neoplasms arising in the central part of the brain and involving…”
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Organ-specific management and supportive care in chronic graft-versus-host disease by Dignan, Fiona L., Scarisbrick, Julia J., Cornish, Jacqueline, Clark, Andrew, Amrolia, Persis, Jackson, Graham, Mahendra, Prem, Taylor, Peter C., Shah, Pallav, Lightman, Sue, Fortune, Farida, Kibbler, Christopher, Andreyev, Jervoise, Albanese, Assunta, Hadzic, Nedim, Potter, Michael N., Shaw, Bronwen E.

“…Summary A joint working group established by the Haemato‐oncology subgroup of the British Committee for Standards in Haematology and the British Society for…”
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Endocrine Disorders in Childhood Cancer Survivors Treated with Haemopoietic Stem Cell Transplantation by Wei, Christina, Albanese, Assunta

“…The increasing number of haemopoietic stem cell transplantations (HSCT) taking place worldwide has offered a cure to many high risk childhood malignancies with…”
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Endocrine Long-Term Follow-Up of Children with Neurofibromatosis Type 1 and Optic Pathway Glioma by Sani, Ilaria, Albanese, Assunta

“…Children with optic pathway glioma (OPG) face sequelae related to tumour location and treatment modalities. We aimed to assess the prevalence of…”
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Management of electrolyte and fluid disorders after brain surgery for pituitary/suprasellar tumours by Edate, Sujata, Albanese, Assunta

“…Disturbances in salt and water balances are relatively common in children after brain surgeries for suprasellar and pituitary tumours, presenting diagnostic…”
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Implications of deferred diagnosis of paediatric intracranial germ cell tumours by Partenope, Cristina, Pozzobon, Gabriella, Weber, Giovanna, Carceller, Fernando, Albanese, Assunta

“…Aims This study analysed the clinical features of a cohort of children with intracranial germ cell tumours (IC‐GCTs). We retrospectively reviewed timelag…”
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LG-11ENDOCRINE LONG TERM FOLLOW-UP OF CHILDREN WITH NEUROFIBROMATOSIS TYPE 1(NF1) AND PPTIC PATHWAY GLIOMA (OPG) by Sani, Ilaria, Albanese, Assunta

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Surgery results in significant improvement in growth in children with Crohn's disease refractory to medical therapy by Singh Ranger, Gurpreet, Lamparelli, Michael J, Aldridge, Andrew, Chong, Sonny K, Mitton, Sally G, Albanese, Assunta, Kumar, Devinder

“…Inflammatory bowel disease (IBD) in children can cause significant impairment in linear growth, and delay in pubertal onset. The aim of this study was to…”
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Recommendations for Premature Ovarian Insufficiency Surveillance for Female Survivors of Childhood, Adolescent, and Young Adult Cancer: A Report From the International Late Effects of Childhood Cancer Guideline Harmonization Group in Collaboration With the PanCareSurFup Consortium by van Dorp, Wendy, Mulder, Renée L, Kremer, Leontien C M, Hudson, Melissa M, van den Heuvel-Eibrink, Marry M, van den Berg, Marleen H, Levine, Jennifer M, van Dulmen-den Broeder, Eline, di Iorgi, Natascia, Albanese, Assunta, Armenian, Saro H, Bhatia, Smita, Constine, Louis S, Corrias, Andreas, Deans, Rebecca, Dirksen, Uta, Gracia, Clarisa R, Hjorth, Lars, Kroon, Leah, Lambalk, Cornelis B, Landier, Wendy, Levitt, Gill, Leiper, Alison, Meacham, Lillian, Mussa, Alesandro, Neggers, Sebastian J, Oeffinger, Kevin C, Revelli, Alberto, van Santen, Hanneke M, Skinner, Roderick, Toogood, Andrew, Wallace, William H, Haupt, Riccardo

“…Female survivors of childhood, adolescent, and young adult (CAYA) cancer who were treated with alkylating agents and/or radiation, with potential exposure of…”
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Reversible Growth Hormone Excess in Two Girls with Neurofibromatosis Type 1 and Optic Pathway Glioma by Bruzzi, Patrizia, Sani, Ilaria, Albanese, Assunta

“…A total of 12 children with neurofibromatosis type 1 (NF-1) with optic pathway glioma (OPG) and growth hormone (GH) excess are reported to date, but no data…”
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Unusual association of Mayer–Rokitansky–Küster–Hauser and Sotos syndromes: a case report by Cattoni, Alessandro, Albanese, Assunta, Tatton-Brown, Katrina

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Response to GH Treatment After Radiation Therapy Depends on Location of Irradiation by Rose, Susan R, Carlsson, Martin, Grimberg, Adda, Aydin, Ferah, Albanese, Assunta, Hokken-Koelega, Anita C S, Camacho-Hubner, Cecilia

“…Abstract Objectives Cancer survivors with GH deficiency (GHD) receive GH therapy (GHT) after 1+ year observation to ensure stable tumor status/resolution…”
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Comprehensive Screening of Eight Known Causative Genes in Congenital Hypothyroidism With Gland-in-Situ by Nicholas, Adeline K, Serra, Eva G, Cangul, Hakan, Alyaarubi, Saif, Ullah, Irfan, Schoenmakers, Erik, Deeb, Asma, Habeb, Abdelhadi M, Almaghamsi, Mohammad, Peters, Catherine, Nathwani, Nisha, Aycan, Zehra, Saglam, Halil, Bober, Ece, Dattani, Mehul, Shenoy, Savitha, Murray, Philip G, Babiker, Amir, Willemsen, Ruben, Thankamony, Ajay, Lyons, Greta, Irwin, Rachael, Padidela, Raja, Tharian, Kavitha, Davies, Justin H, Puthi, Vijith, Park, Soo-Mi, Massoud, Ahmed F, Gregory, John W, Albanese, Assunta, Pease-Gevers, Evelien, Martin, Howard, Brugger, Kim, Maher, Eamonn R, Chatterjee, V. Krishna K, Anderson, Carl A, Schoenmakers, Nadia

“…Context: Lower TSH screening cutoffs have doubled the ascertainment of congenital hypothyroidism (CH), particularly cases with a eutopically located…”
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National UK guidelines for the management of paediatric craniopharyngioma by Gan, Hoong-Wei, Morillon, Paul, Albanese, Assunta, Aquilina, Kristian, Chandler, Chris, Chang, Yen-Ching, Drimtzias, Evangelos, Farndon, Sarah, Jacques, Thomas S, Korbonits, Márta, Kuczynski, Adam, Limond, Jennifer, Robinson, Louise, Simmons, Ian, Thomas, Nick, Thomas, Sophie, Thorp, Nicola, Vargha-Khadem, Faraneh, Warren, Daniel, Zebian, Bassel, Mallucci, Conor, Spoudeas, Helen Alexandra

“…Although rare, craniopharyngiomas constitute up to 80% of tumours in the hypothalamic–pituitary region in childhood. Despite being benign, the close proximity…”
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Expanding the Phenotype of TRNT1-Related Immunodeficiency to Include Childhood Cataract and Inner Retinal Dysfunction by Hull, Sarah, Malik, Aeesha N J, Arno, Gavin, Mackay, Donna S, Plagnol, Vincent, Michaelides, Michel, Mansour, Sahar, Albanese, Assunta, Brown, Katrina Tatton, Holder, Graham E, Webster, Andrew R, Heath, Paul T, Moore, Anthony T

“…A multiorgan syndromic disorder characterized by sideroblastic anemia, immunodeficiency, periodic fever, and developmental delay with an uncharacterized…”
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