14 research outputs found
Plasma lipid profiles discriminate bacterial from viral infection in febrile children
- Author
- Abdulla A. (Amina)
- Abelake E. (Eugenia)
- Adeel A.O.A. (A. O.A.)
- Aebi C. (Christoph)
- Aebi C. (Christoph)
- Agapow P. (Paul)
- Agbeko R. (Rachel)
- Agyeman P. (Philipp)
- Anderson S. (Suzanne)
- Antonio M. (Martin)
- Baer W. (Walter)
- Barham H. (Heather)
- Barral-Arca R. (Ruth)
- Barrios X.G. (Xavier Gabaldó)
- Bartlett M. (Maeve)
- Baumgart H. (Hinrich)
- Baumgartner M. (Markus)
- Behrends U. (Uta)
- Beiroa A.G. (Andrea Grela)
- Bellos E. (Evangelos)
- Berger C. (Christoph)
- Berger C. (Christoph)
- Bernhard-Stirnemann S. (Sara)
- Biebl A. (Ariane)
- Binder A. (Alexander)
- Birnbacher R. (Robert)
- Blanke J.-G. (Jan-Gerd)
- Boeddha N.P. (Navin)
- Boelke C. (Carsten)
- Bojang K. (Kalifa)
- Bokhandi S. (S.)
- Breukels M.A. (M. A.)
- Breuling K. (Kai)
- Brinkman D.M.C.
- Brunner J. (Jürgen)
- Buller M. (Maria)
- Camuzeaux S. (Stephane)
- Carreras E. (Eduardo)
- Carrol E.D. (Enitan)
- Carter S. (Stephanie)
- Cebey-López M. (Miriam)
- Coin L.M.J. (Lachlan M. J.)
- Cole F. (Fatoumata)
- Contreras J.R. (J. Ruiz)
- Cooke E.F. (Elizabeth Fernández)
- Crate L. (Lindsey)
- Curras-Tuala M.J. (María José)
- Dahlem P. (Peter)
- Davies P. (P.)
- de Korte C.C.M.M. (C. C.M.M.)
- de Vries E. (E.)
- Deep A. (Akash)
- Dekkers R. (R.)
- Deuren M. (Marcel) van
- Dietrich B. (Beate)
- Dings-Lammertink A. (A.)
- Doedens R.A. (R. A.)
- Donker A.E. (A.)
- Dousma M. (M.)
- Driessen G.J.A. (Gertjan)
- Eber E. (Ernst)
- Eleftherohorinou H. (Hariklia)
- Elias J. (Johannes)
- Ellacuriagal A.S. (Antonio Salas)
- Emhofer J. (Josef)
- Emonts M. (Marieke)
- Emonts M. (Marieke)
- Ende A. (A.) van der
- Etschmaier R. (Rosa)
- Faber T.E. (T. E.)
- Farr S. (Sebastian)
- Faust D. (Dominik)
- Fernández R. (Reyes)
- Fernández S.S. (Sonia Serén)
- Fink C. (Colin)
- Flier M. (Michiel) van der
- Forte M.S. (Miguel Sánchez)
- Fortune P.M. (P. M.)
- Frederick H. (Hannah)
- Galassini R. (Rachel)
- García N. (Natalia)
- Gerrit G.P.J.M. (Gerardus)
- Gerver J.A.M. (J. A.M.)
- Giannoni P.
- Girtler Y. (Ylenia)
- González F.Á. (Fernando Álvez)
- Gormley S. (Stuart)
- Grande A.J. (Antonio Justicia)
- Gribbin A. (Andrew)
- Grigorow I. (Irina)
- Groot R. (Ronald) de
- Guillén S. (Sara)
- Gutiérrez B.M. (Beatriz Morillo)
- Gómez-Carballa A. (Alberto)
- Hamilton S. (Shea)
- Hardy K. (Katie)
- Hasters P. (Paul)
- Hazelzet J.A. (Jan)
- Heidema J. (Jojanneke)
- Heimann K. (Konrad)
- Heininger U. (Ulrich)
- Herberg J.A. (Jethro A.)
- Hoggart C. (Clive)
- Hourmat B. (Bernardo)
- Hudnott P. (Phil)
- Ibarrondo C.E. (Cristina Epalza)
- Iglesias P.L. (Pilar Leboráns)
- Ihm U. (Ulrike)
- Inwald D. (David)
- Jackson H. (Heather)
- Jacobs M.A.M. (M. A.M.)
- Jansen N.J.G. (N. J.G.)
- Jaros Z. (Zdenek)
- Jennings R. (Rebecca)
- Johnston J. (Joanne)
- Kaforou M. (Myrsini)
- Kahlert C. (Christian)
- Kalhoff H. (Hermann)
- Kaulfersch W. (Wilhelm)
- Kawczynski P. (P.)
- Kebbeh N. (Ngange)
- Kemen C. (Christoph)
- Kenwright R. (Rhian)
- khan S. (Saidy)
- Klobassa D.S. (Daniela S.)
- Klocker N. (Nina)
- Klucovska K. (K.)
- Kneyber M.C.J. (M. C.J.)
- Kohlmaier B. (Benno)
- Komini E. (Eleni)
- Koopman-Keemink Y. (Yvonne)
- Kramer L. (Lydia)
- Kuijpers T.T. (Taco T.)
- Köster B. (Bernhard)
- Langenhorst V.J. (V. J.)
- Leusink J. (J.)
- Levin M. (Michael)
- Lewis M.R. (Matthew R.)
- León M.C.L. (María Cruz León)
- Loza B.F. (Bettina F.)
- Lozano M.J. (María José)
- MacOnochie I.K. (Ian)
- Martinon-Torres F. (Federico)
- Martinón-Torres F. (Federico)
- MartinónTorres N. (Nazareth)
- Mashbat M. (Meg)
- McClure M. (Myra)
- McCorkell J. (Jenni)
- McCready S. (Sharon)
- Menikou S. (Stefanie)
- Merth I.T. (I. T.)
- Miedema C.J. (C. J.)
- Mingorance Á.N. (Álvaro Navarro)
- Momodou ()
- Moreno D. (David)
- Mustafa S. (Sobia)
- Nadel S. (Simon)
- Navarra H. (Helen)
- Navarro M. (Marisa)
- Neeleman C. (C.)
- Neth O. (Olaf)
- Neubert A. (Antje)
- Niederer-Loher A. (Anita)
- Nijman R.G. (Ruud)
- Noordzij J.G. (Jeroen)
- Nsirim E. (Eniola)
- Obihara C.C. (Charlie C.)
- Ortner D. (Daniel)
- O’Neill L. (Lauren)
- Pacheco P.O. (Pablo Obando)
- Padilla M.C.M. (Ma del Carmen Martínez)
- Pajkrt D. (D.)
- Palacios A. (Alba)
- Pardo-Seco J. (Jacobo)
- Patel R. (Rekha)
- Patel S.Y. (Smita Y.)
- Pathan D.N. (Dr N)
- Paulus S.C. (Stephane C.)
- Pescollderungg L. (Lydia)
- Peters M. (Mark)
- Pfurtscheller K. (Klaus)
- Philipsen H.L.A. (H. L.A.)
- Pinnock E. (Elli)
- Pischedda S. (Sara)
- Pollard A.J. (Andrew J.)
- Poortman G.H. (G. H.)
- Posfay-Barbe K.M. (Klara M.)
- Potgieter S.T. (S. T.)
- Potjewijd J. (J.)
- Power S. (Sue)
- Pérez B.M. (Belén Mosquera)
- Rahman R. (Rahmeen)
- Ramaiah R. (R.)
- Redondo-Collazo L. (Lorenzo)
- Reiter K. (Karl)
- Relly C. (Christa)
- Reyes S.B. (Susana Beatriz)
- Rial J.G. (Jose Gómez)
- Ridout J. (Jenna)
- Ristic G. (Goran)
- RiveroCalle I. (Irene)
- Rodríguez-Tenreiro C. (Carmen)
- Rojo P. (Pablo)
- Rosias P.P.R. (Philippe)
- Royad C. (C.)
- Rödl S. (Siegfried)
- Sagmeister M. (Manfred)
- Salas A. (Antonio)
- Sanagustín S.B. (Sonia Brió)
- Sancho-Shimizu V. (Vanessa)
- Sanders E.A.M. (E. A.M.)
- Sands C. (Caroline)
- Santos A.E.M. (Alba Elena Martínez)
- Sarr I. (Isatou)
- Schlapbach L.J. (Luregn)
- Schweintzger N.A. (Nina A.)
- Secka F. (Fatou)
- Sellner A. (Andrea)
- Sey G. (Gibbi)
- Silva M.S.P. (María del Sol Porto)
- Silveira L.F. (Laura Fernández)
- Sonnleitner A. (Astrid)
- Sperl M. (Matthias)
- Sprong T. (Tom)
- Standing F. (Fran)
- Stelzl W. (Wolfgang)
- Stocker M. (Martin)
- Sánchez F.G. (Francisco Giménez)
- Sánchez J.M.M. (José María Martinón)
- Tato L.M.P. (Luis Manuel Prieto)
- ten Tussher G.W. (G. W.)
- Thakker C. (Clare)
- Thio B.J. (B. J.)
- Thomas G. (Gilleh)
- Thurston S. (Sarah)
- Till H. (Holger)
- Torre A.C. (Andrés Concha)
- Tramper-Stranders G.A. (Gerdien)
- Trillo L.V. (Lucía Vilanova)
- Trobisch A. (Andreas)
- Tuffrey C. (Catherine)
- van de Beek D. (D.)
- van der Meer H. (H.)
- van Furth A.M.T. (A. M. Tutu)
- van Kuppevelt A.J.M. (A. J.M.)
- van Overbeek – van Gils A.L.T. (A. L.T.)
- van Wermeskerken A.M. (A. M.)
- Veen J.H.-V. (J. Homan-van der)
- Vega A. (Ana)
- Vergara E.O. (Eider Oñate)
- Verwijs W.A. (W. A.)
- Vicente L.G. (Luisa García)
- Vierzig A. (Anne)
- Vivanco A. (Ana)
- Vogel U. (Ulrich)
- Waal W.J. (Wouter) de
- Wang X. (Xinzhu)
- Weingarten C. (Christina)
- Welke S. (Stefanie)
- White D. (Deborah)
- White S. (Sonia)
- Willis L. (Louise)
- Wimmer A. (Andreas)
- Wintergerst U. (Uwe)
- Wolfs T.F.W. (T. F.W.)
- Wright V.J. (Victoria)
- Wüller D. (Daniel)
- Young Z. (Zoe)
- Zaunschirm A. (Andrew)
- Zenz W. (Werner)
- Ziuraite I. (Ieva)
- Álvarez C.Á. (Cristina Álvarez)
- Žukovskaja V. (Veslava)
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/12/2019
- Field of study
Fever is the most common reason that children present to Emergency Departments. Clinical signs and symptoms suggestive of bacterial infection ar
The molecular genetics of the multiple endocrine neoplasia syndromes
- Author
- Anderson D.E.
- Bale A.E.
- Bale S.J.
- Bear J.C.
- Bigner S.H.
- Friedman E.
- Friedman E.
- Friend S.H.
- Jackson C.E.
- Knudson A.G.
- Kurzrock R.
- Larsson C.
- Litt M.
- Morton N.E.
- Nakamura Y.
- Ott J.
- Pang J.T.
- Ponder B.A.J.
- Ruddle F.H.
- Shepherd J.J.
- Sheps S.G.
- Skogseid B.
- Thakker R.V.
- Thakker R.V.
- Thakker R.V.
- Thakker R.V.
- Thakker R.V.
- Thakker R.V.
- Thakker R.V.
- Thakker R.V.
- Vistele R.
- Weber J.L.
- Publication venue
- 'Wiley'
- Publication date
- Field of study
Parafibromin mutations in hereditary hyperparathyroidism syndromes and parathyroid tumours
- Author
- Publication venue
- 'Wiley'
- Publication date
- Field of study
DNMT3A mutations occur early or late in patients with myeloproliferative neoplasms and mutation order influences phenotype
- Author
- Publication venue
- 'Ferrata Storti Foundation (Haematologica)'
- Publication date
- 06/08/2015
- Field of study
Simultaneous detection of erythromycin-resistant methylase genes ermA and ermC fromStaphylococcus spp. by multiplex-PCR
- Author
- Publication venue
- 'Elsevier BV'
- Publication date
- Field of study
HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome.
- Author
- A Villablanca
- A. Höög
- A. Villablanca
- A.A. Pannett
- A.M. Kennedy
- B. Harding
- B. Robinson
- B.M. Cavaco
- B.T. Teh
- BM Cavaco
- BT Teh
- BT Teh
- C Bystrom
- C Williamson
- C. Haven
- C. Larsson
- C.E. Jackson
- C.M. Robbins
- CE Jackson
- CE Jackson
- CJ Haven
- D. Cameron
- D. Petillo
- DK Pokholok
- E Friedman
- E.M. Gillanders
- G.M. Besser
- H. Heath
- H. Morreau
- I.B. Rosen
- J Szabo
- J. Bailey-Wilson
- J.D. Carpten
- J.D. Chen
- J.M. Trent
- JS Dinnen
- K Kerkmann
- L Kruglyak
- L. Forsberg
- L.-O. Farnebo
- L.A. James-Newton
- LR Eversole
- M.P. Jones
- M.R. Hobbs
- MR Hobbs
- MR Hobbs
- N.D. Perrier
- P.D. Leotlela
- P.D. Turnpenny
- R Sood
- R. Sood
- R.J. Zarbo
- R.V. Thakker
- RV Thakker
- S Kennett
- S. Presciuttini
- S.J. Marx
- S.K. Agarwal
- SJ Marx
- T.Y. Moses
- U. Kristoffersson
- W. Wassif
- W.F. Simonds
- WF Simonds
- WS Wassif
- X Shi
- Publication venue
- Publication date
- 01/01/2002
- Field of study
We report here the identification of a gene associated with the hyperparathyroidism-jaw tumor (HPT-JT) syndrome. A single locus associated with HPT-JT (HRPT2) was previously mapped to chromosomal region 1q25-q32. We refined this region to a critical interval of 12 cM by genotyping in 26 affected kindreds. Using a positional candidate approach, we identified thirteen different heterozygous, germline, inactivating mutations in a single gene in fourteen families with HPT-JT. The proposed role of HRPT2 as a tumor suppressor was supported by mutation screening in 48 parathyroid adenomas with cystic features, which identified three somatic inactivating mutations, all located in exon 1. None of these mutations were detected in normal controls, and all were predicted to cause deficient or impaired protein function. HRPT2 is a ubiquitously expressed, evolutionarily conserved gene encoding a predicted protein of 531 amino acids, for which we propose the name parafibromin. Our findings suggest that HRPT2 is a tumor-suppressor gene, the inactivation of which is directly involved in predisposition to HPT-JT and in development of some sporadic parathyroid tumors
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- Publication venue
- 'Informa UK Limited'
- Publication date
- Field of study