Search Results - "Shaw, Nick J"

Phenotypic Spectrum in Osteogenesis Imperfecta Due to Mutations in TMEM38B: Unraveling a Complex Cellular Defect by Webb, Emma A., Balasubramanian, Meena, Fratzl-Zelman, Nadja, Cabral, Wayne A., Titheradge, Hannah, Alsaedi, Atif, Saraff, Vrinda, Vogt, Julie, Cole, Trevor, Stewart, Susan, Crabtree, Nicola J., Sargent, Brandi M., Gamsjaeger, Sonja, Paschalis, Eleftherios P., Roschger, Paul, Klaushofer, Klaus, Shaw, Nick J., Marini, Joan C., Högler, Wolfgang

“…Abstract Context: Recessive mutations in TMEM38B cause type XIV osteogenesis imperfecta (OI) by dysregulating intracellular calcium flux. Objectives: Clinical…”
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Healthcare resource utilization in the management of hypophosphatasia in three patients displaying a spectrum of manifestations by Daniel, Anjali B, Saraff, Vrinda, Shaw, Nick J, Yates, Robert, Mughal, M Zulf, Padidela, Raja

“…Hypophosphatasia (HPP) is a rare, heterogeneous disease caused by low tissue-nonspecific alkaline phosphatase activity and associated with a range of signs and…”
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Loss of Functional Osteoprotegerin: More Than a Skeletal Problem by Grasemannn, Corinna, Unger, Nicole, Hövel, Matthias, Arweiler-Harbeck, Diana, Herrmann, Ralf, Schündeln, Michael M, Müller, Oliver, Schweiger, Bernd, Lausch, Ekkehart, Meissner, Thomas, Kiewert, Cordula, Hauffa, Berthold P, Shaw, Nick J

“…Introduction: Juvenile Pagets disease (JPD), an ultra-rare, debilitating bone disease stemming from unopposed RANKL action due to loss of functional…”
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Genital anomalies in Klinefelter's syndrome by Lee, Yung Seng, Cheng, Anna Wai Fun, Ahmed, Syed Faisal, Shaw, Nick J, Hughes, Ieuan A

“…Klinefelter's syndrome is characterized by progressive testicular failure causing aspermatogenesis and androgen deficiency. Klinefelter patients classically…”
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Prevalence and Mortality of Individuals With X-Linked Hypophosphatemia: A United Kingdom Real-World Data Analysis by Hawley, Samuel, Shaw, Nick J, Delmestri, Antonella, Prieto-Alhambra, Daniel, Cooper, Cyrus, Pinedo-Villanueva, Rafael, Javaid, M Kassim

“…Abstract Background X-linked hypophosphatemia (XLH) is a rare multisystemic disease with a prominent musculoskeletal phenotype. We aim here to improve…”
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Vitamin D in childhood and adolescence: an expert position statement by Saggese, Giuseppe, Vierucci, Francesco, Boot, Annemieke M., Czech-Kowalska, Justyna, Weber, Giovanna, Camargo, Carlos A., Mallet, Eric, Fanos, Margherita, Shaw, Nick J., Holick, Michael F.

“…Vitamin D is a key hormone in the regulation of calcium and phosphorus metabolism and plays a pivotal role in bone health, particularly during pediatric age…”
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Higher prevalence of non-skeletal comorbidity related to X-linked hypophosphataemia: a UK parallel cohort study using CPRD by Hawley, Samuel, Shaw, Nick J, Delmestri, Antonella, Prieto-Alhambra, Daniel, Cooper, Cyrus, Pinedo-Villanueva, Rafael, Javaid, M Kassim

“…Abstract Objectives X-Linked hypophosphataemic rickets (XLH) is a rare multi-systemic disease of mineral homeostasis that has a prominent skeletal phenotype…”
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TSHR is the main causative locus in autosomal recessively inherited thyroid dysgenesis by Cangul, Hakan, Aycan, Zehra, Saglam, Halil, Forman, Julia R, Cetinkaya, Semra, Tarim, Omer, Bober, Ece, Cesur, Yasar, Kurtoglu, Selim, Darendeliler, Feyza, Bas, Veysel, Eren, Erdal, Demir, Korcan, Kiraz, Aslihan, Aydin, Banu K, Karthikeyan, Ambika, Kendall, Michaela, Boelaert, Kristien, Shaw, Nick J, Kirk, Jeremy, Högler, Wolfgang, Barrett, Timothy G, Maher, Eamonn R

“…Congenital hypothyroidism (CH) is the most common neonatal endocrine disorder and results in mental retardation if untreated. Eighty-five percent of CH cases…”
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Rickets by Carpenter, Thomas O., Shaw, Nick J., Portale, Anthony A., Ward, Leanne M., Abrams, Steven A., Pettifor, John M.

“…Rickets is a bone disease associated with abnormal serum calcium and phosphate levels. The clinical presentation is heterogeneous and depends on the age of…”
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Zoledronic Acid vs Placebo in Pediatric Glucocorticoid-induced Osteoporosis: A Randomized, Double-blind, Phase 3 Trial by Ward, Leanne M, Choudhury, Anup, Alos, Nathalie, Cabral, David A, Rodd, Celia, Sbrocchi, Anne Marie, Taback, Shayne, Padidela, Raja, Shaw, Nick J, Hosszu, Eva, Kostik, Mikhail, Alexeeva, Ekaterina, Thandrayen, Kebashni, Shenouda, Nazih, Jaremko, Jacob L, Sunkara, Gangadhar, Sayyed, Sarfaraz, Aftring, R Paul, Munns, Craig F

“…Glucocorticoids (GCs) prescribed for chronic pediatric illnesses are associated with osteoporotic fractures. This study aims to determine the efficacy and…”
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PPIB Mutations Cause Severe Osteogenesis Imperfecta by van Dijk, Fleur S., Nesbitt, Isabel M., Zwikstra, Eline H., Nikkels, Peter G.J., Piersma, Sander R., Fratantoni, Silvina A., Jimenez, Connie R., Huizer, Margriet, Morsman, Alice C., Cobben, Jan M., van Roij, Mirjam H.H., Elting, Mariet W., Verbeke, Jonathan I.M.L., Wijnaendts, Liliane C.D., Shaw, Nick J., Högler, Wolfgang, McKeown, Carole, Sistermans, Erik A., Dalton, Ann, Meijers-Heijboer, Hanne, Pals, Gerard

“…Deficiency of cartilage-associated protein (CRTAP) or prolyl 3-hydroxylase 1(P3H1) has been reported in autosomal-recessive lethal or severe osteogenesis…”
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Nutritional rickets in immigrant and refugee children by Thacher, Tom D, Pludowski, Pawel, Shaw, Nick J, Mughal, M Zulf, Munns, Craig F, Högler, Wolfgang

“…Immigrant and refugee populations bring public health challenges to host nations. In the current global refugee crisis, children are the most vulnerable…”
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Vitamin D and child health: part 2 (extraskeletal and other aspects) by Shaw, Nick J, Mughal, M Zulf

“…The first part of this review focused on the skeletal aspects of vitamin D. This second part reviews some of the available evidence that vitamin D may have a…”
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Vitamin D and child health Part 1 (skeletal aspects) by Shaw, Nick J, Mughal, M Zulf

“…Currently, there is considerable clinical and academic interest in vitamin D as a consequence of a number of developments over the past decade. This was…”
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Phenotypic variability in patients with osteogenesis imperfecta caused by BMP1 mutations by Pollitt, Rebecca C., Saraff, Vrinda, Dalton, Ann, Webb, Emma A., Shaw, Nick J., Sobey, Glenda J., Mughal, M. Zulf, Hobson, Emma, Ali, Farhan, Bishop, Nicholas J., Arundel, Paul, Högler, Wolfgang, Balasubramanian, Meena

“…Osteogenesis Imperfecta (OI) is an inherited bone fragility disorder most commonly associated with autosomal dominant mutations in the type I collagen genes…”
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The reliability of the Low Back Outcome Score for Back pain by HOLT, Anne E, SHAW, Nick J, SHETTY, Ajit, GREENOUGH, Charles G

“…A prospective test-retest study was conducted to investigate both new and follow-up patients with low back pain presenting to an orthopedic surgeon…”
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Mutations that Cause Osteoglophonic Dysplasia Define Novel Roles for FGFR1 in Bone Elongation by White, Kenneth E., Cabral, Jose M., Davis, Siobhan I., Fishburn, Tonya, Evans, Wayne E., Ichikawa, Shoji, Fields, Joanna, Yu, Xijie, Shaw, Nick J., McLellan, Neil J., McKeown, Carole, FitzPatrick, David, Yu, Kai, Ornitz, David M., Econs, Michael J.

“…Activating mutations in the genes for fibroblast growth factor receptors 1–3 ( FGFR1–3) are responsible for a diverse group of skeletal disorders. In general,…”
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A Practical Approach to Hypocalcaemia in Children by Shaw, Nick J

“…Hypocalcaemia is one of the commonest disorders of mineral metabolism seen in children and may be a consequence of several different aetiologies. These include…”
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A Practical Approach to Vitamin D Deficiency and Rickets by Allgrove, Jeremy, Shaw, Nick J

“…Rickets is a condition in which there is failure of the normal mineralisation (osteomalacia) of growing bone. Whilst osteomalacia may be present in adults,…”
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Wolcott-rallison syndrome: Clinical, genetic, and functional study of EIF2AK3 mutations and suggestion of genetic heterogeneity by SENEE, Valérie, VATTEM, Krishna M, MICHAUD, Jacques L, BIN-ABBAS, Bassan, TAHA, Doris, ZABEL, Bernard, FRANCESCHINI, Piergiorgio, TOPALOGLU, A. Kemal, LATHROP, G. Mark, BARRETT, Timothy G, NICOLINO, Marc, WEK, Ronald C, DELEPINE, Marc, JULIER, Cécile, RAINBOW, Lynn A, HATON, Céline, LECOQ, Annick, SHAW, Nick J, ROBERT, Jean-Jacques, ROOMAN, Raoul, DIATLOFF-ZITO, Catherine

“…Wolcott-Rallison syndrome (WRS) is a rare autosomal-recessive disorder characterized by the association of permanent neonatal or early-infancy…”
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