Eine Auswahl an Publikationen

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Auswahl an Publikationen durch Mitarbeiter des SPZ 

2015

Grainger JD, Locatelli F, Chotsampancharoen T, Donyush E, Pongtanakul B, Komvilaisak P, Sosothikul D, Drelichman G, Sirachainan N, Holzhauer S, Lebedev V, Lemons R, Pospisilova D, Ramenghi U, Bussel JB, Bakshi KK, Iyengar M, Chan GW, Chagin KD, Theodore D, Marcello LM, Bailey CK. Eltrombopag for children with chronic immune thrombocytopenia (PETIT2): a randomised, multicentre, placebo-controlled trial. Lancet 2015;pii: S0140-6736(15)61107-2.

Chen YC, Auer-Grumbach M, Matsukawa S, Zitzelsberger M, Themistocleous AC, Strom TM, Samara C, Moore AW, Cho LT, Young GT, Weiss C, Schabhüttl M, Stucka R, Schmid AB, Parman Y, Graul-Neumann L, Heinritz W, Passarge E, Watson RM, Hertz JM, Moog U, Baumgartner M, Valente EM, Pereira D, Restrepo CM, Katona I, Dusl M, Stendel C, Wieland T, Stafford F, Reimann F, von Au K, Finke C, Willems PJ, Nahorski MS, Shaikh SS, Carvalho OP, Nicholas AK, Karbani G, McAleer MA, Cilio MR, McHugh JC, Murphy SM, Irvine AD, Jensen UB, Windhager R, Weis J, Bergmann C, Rautenstrauss B, Baets J, De Jonghe P, Reilly MM, Kropatsch R, Kurth I, Chrast R, Michiue T, Bennett DL, Woods CG, Senderek J. Transcriptional regulator PRDM12 is essential for human pain perception. Nat Genet 2015. Im Druck.

Onengut-Gumuscu S, Chen WM, Burren O, Cooper NJ, Quinlan AR, Mychaleckyj JC, Farber E, Bonnie JK, Szpak M, Schofield E, Achuthan P, Guo H, Fortune MD, Stevens H, Walker NM, Ward LD, Kundaje A, Kellis M, Daly MJ, Barrett JC, Cooper JD, Deloukas P; Type 1 Diabetes Genetics Consortium (inkl. Raile K), Todd JA, Wallace C, Concannon P, Rich SS. Fine mapping of type 1 diabetes susceptibility loci and evidence for colocalization of causal variants with lymphoid gene enhancers. Nat Genet 2015;47(4):381-6.

Baxter PS, Bell KF, Hasel P, Kaindl AM, Fricker M, Thomson D, Cregan SP, Gillingwater TH, Hardingham GE. Synaptic NMDA receptor activity is coupled to the transcriptional control of the glutathione system in the developing brain. Nat Commun 2015;6:6761.

Klotsche J, Niewerth M, Haas JP, Huppertz HI, Zink A, Horneff G, Minden K. Long-term safety of etanercept and adalimumab compared to methotrexate in patients with juvenile idiopathic arthritis (JIA). Ann Rheum Dis 2015. Im Druck.

Federici S, Sormani MP, Ozen S, Lachmann HJ, Amaryan G, Woo P, Koné-Paut I, Dewarrat N, Cantarini L, Insalaco A, Uziel Y, Rigante D, Quartier P, Demirkaya E, Herlin T, Meini A, Fabio G, Kallinich T, Martino S, Butbul AY, Olivieri A, Kuemmerle-Deschner J, Neven B, Simon A, Ozdogan H, Touitou I, Frenkel J, Hofer M, Martini A, Ruperto N, Gattorno M; Paediatric Rheumatology International Trials Organisation (PRINTO) and Eurofever Project. Evidence-based provisional clinical classification criteria for autoinflammatory periodic fevers. Ann Rheum Dis 2015;74(5):799-805.

Giancane G, Ter Haar NM, Wulffraat N, Vastert SJ, Barron K, Hentgen V, Kallinich T, Ozdogan H, Anton J, Brogan P, Cantarini L, Frenkel J, Galeotti C, Gattorno M, Grateau G, Hofer M, Kone-Paut I, Kuemmerle-Deschner J, Lachmann HJ, Simon A, Demirkaya E, Feldman B, Uziel Y, Ozen S. Evidence-based recommendations for genetic diagnosis of familial Mediterranean fever. Ann Rheum Dis 2015;74(4):635-41.

ter Haar N, Oswald M, Jeyaratnam J, Anton A, Barron KS, Brogan PA, Cantarini L, Galeotti C, Grateau G, Hentgen V, Hofer M, Kallinich T, Kone-Paut I, Lachmann HJ, Ozdogan H, Ozen S, Russo R, Simon A, Uziel Y, Wouters C, Feldman BM, Vastert SJ, Wulffraat NM, Benseler SM, Frenkel J, Gattorno M, Kuemmerle-Deschner JB. Recommendations for the management of autoinflammatory diseases. Ann Rheum Dis 2015;74(9):1636-44.

Galler A., Bollow E., Meusers M., Bartus B., Näke A., Haberland H., Schober E., Holl R.W. for the German Federal Ministry for Education and Research (BMBF) Competence Network of Diabetes Mellitus. Comparison of glycemic and metabolic control in youth with type 1 diabetes with and without antipsychotic medication: analysis from the nationwide German/Austrian diabetes survey (DPV). Diabetes Care 2015; 38: 1051-1057.

Horneff G, Foeldvari I, Minden K, Trauzeddel R, Kümmerle-Deschner JB, Tenbrock K, Ganser G, Huppertz HI. Efficacy and safety of etanercept in enthesitis-related arthritis juvenile idiopathic arthritis: Results from a phase 3 randomized double-blind study. Arthritis Rheumatol 2015. Im Druck.

Reinehr T, Karges B, Meissner T, Wiegand S, Fritsch M, Holl RW, Woelfle J. Fibroblast growth factor 21 and fetuin-A in obese adolescents with and without type 2 diabetes. J Clin Endocrinol Metab 2015. Im Druck.

Petroff D, Kromeyer-Hauschild K, Wiegand S, l'Allemand-Jander D, Binder G, Schwab KO, Stachow R, Kiess W, Hammer E, Sturm S, Holl RW, Blüher S. Introducing excess body weight in childhood and adolescence and comparison with body mass index and waist-to-height ratio. Int J Obes (Lond) 2015;39(1):52-60.

Martin L, Oepen J, Reinehr T, Wabitsch M, Claussnitzer G, Waldeck E, Ingrisch S, Stachow R, Oelert M, Wiegand S, Holl R. Ethnicity and cardiovascular risk factors: evaluation of 40 921 normal-weight, overweight or obese children and adolescents living in Central Europe. Int J Obes (Lond) 2015;39(1):45-51.

Kraemer N, Ravindran E, Zaqout S, Neubert G, Schindler D, Ninnemann O, Graef R, Seiler AEM, Kaindl AM. Loss of CDK5RAP2 affects neural differentiation but not non-neural mESC differentiation in to cardiomyocytes. Cell Cycle 2015;14(13):2044-57.

Adegbola A, Musante L, Callewaert B, Maciel P, Hu H, Isidor B, Minh-Picker S, Le Caignec C, Delle Chiaie B, Vanakker O, Menten B, D'Heedene A, Bockaert N, Roelens F, Decaestecker K, Silva J, Soares G, Lopes F, Najmabadi H, Kahrizi K, Cox GF, Angus SP, Fischer U, Suckow V, Bartsch O, Chess A, Ropers HH, Wienker TF, Hübner Ch, Kaindl AM, Kalscheuer VM. Redefining the MED13L syndrome. EJHG 2015. Im Druck.

Rudnik-Schöneborn S, Tölle D, Senderek J, Eggermann K, Elbracht M, Kornak U, von der Hagen M, Kirschner J, Leube B, Müller-Felber W, Schara U, von Au K, Wieczorek D, Bußmann C, Zerres K. Diagnostic algorithms in Charcot-Marie-Tooth neuropathies: experiences from a German genetic laboratory on the basis of 1206 index patients. Clin Genet 2015. Im Druck.

 

2014

Rasic VM, Baets J, Bartsakoulia M, Ploski R, Teterycz P, Nikolic M, Quinlivan R, Laura M, Sweeney MG, Taroni F, Lunn MP, Moroni I, Gonzalez M, Hanna MG, Bettencourt C, Chabrol E, Franke A, von Au K, Schilhabel M, Kabzińska D, Hausmanowa-Petrusewicz I, Brandner S, Lim SC, Song H, Choi BO, Horvath R, Chung KW, Zuchner S, Pareyson D, Harms M, Reilly MM, Houlden H. Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2. Am J Hum Genet 2014;95(5):590-601.

Bechtold S, Blaschek A, Raile K, Dost A, Freiberg C, Askenas M, Fröhlich-Reiterer E, Molz E, Holl RW. Higher relative risk for multiple sclerosis in a pediatric and adolescent diabetic population: analysis from DPV database. Diabetes Care 2014;37(1):96-101.

Simaite D, Kofent J, Gong M, Rüschendorf F, Jia S, Arn P, Bentler K, Ellaway C, Kühnen P, Hoffmann GF, Blau N, Spagnoli FM, Hübner N, Raile K. Recessive mutations in PCBD1 cause a new type of early-onset diabetes. Diabetes 2014;63(10):3557-64.

Schmeling H, Minden K, Foeldvari I, Ganser G, Hospach T, Horneff G. Efficacy and safety of adalimumab as the first and second biologic agent in juvenile idiopathic arthritis: the German Biologics JIA Registry. Arthritis Rheumatol 2014;66(9):2580-9.

Szczawinska D, Schnabel D, Letz S, Schöfl C. A Homozygous CaSR Mutation Causing a FHH Phenotype Completely Masked by Vitamin D Deficiency Presenting as Rickets. J Clin Endocrinol Metab 2014;99(6):E1146-53.

Becker M., Galler A., Raile K. Meglitinide analogues in adolescent patients with HNF1A-MODY (MODY 3). Pediatrics 2014;133:775-779.

Human procaspase-1 variants with decreased enzymatic activity are associated with febrile episodes and may contribute to inflammation via RIP2 and NF.kB signaling. Heymann MC, Winkler S, Luksch H, Flecks S, Franke M, Ruß S, Ozen S, Yilmaz E, Klein C, Kallinich T, Lindemann D, Brenner S, Ganser G, Roesler J, Rösen-Wolff A, Hofmann SR. J Immunol 2014,192(9):4379-85.

Hu H, Musante L, Roggenkamp V, Kraemer N, Ropers HH, Hubner Ch, Wienker Th, Kaindl AM. Previously reported new type of autosomal recessive primary microcephaly is caused by compound heterozygous ASPM gene mutations. Cell Cycle 2014;13(10):1650-1.

Bachmann F, Stieler K, Garcia Bartels N, Philipp S, Minden K, Blume-Peytavi U. Skin manifestations associated with chronic recurrent multifocal osteomyelitis in a 9-year-old girl. J Am Acad Dermatol 2014;71(5):e218-9.

Rafayelyan S, Meyer P, Radlanski RJ, Minden K, Jost-Brinkmann PG, Präger TM. Effect of methotrexate upon antigen-induced arthritis of the rabbit temporomandibular joint. J Oral Pathol Med 2014. Im Druck.

Klotsche J, Minden K, Thon A, Ganser G, Urban A, Horneff G. Improvement in health-related quality of life for children with juvenile idiopathic arthritis after start of treatment with etanercept. Arthritis Care Res (Hoboken) 2014;66(2):253-62.

Picker-Minh S, Busche A, Hartmann B, Spors B, Klopocki E, Hübner Ch, Horn D, Kaindl AM. Large homozygous RAB3GAP1 gene microdeletion causes Warburg micro syndrome 1. Orphanet J Rare Dis 2014;9:113.

Von Bernuth H, Ravindran E, Du H, Froehler S, Strehl K, Kraemer N, Issa-Jahns L, Amulic B, Ninnemann O, Xiao MS, Eirich K, Koelsch U, Hauptmann K, John R, Schindler D, Wahn V, Chen W, Kaindl AM. Combined immunodeficiency develops with age in immunodeficiency-centromeric instability-facial anomalies syndrome 2 (ICF2). Orphanet J Rare Dis 2014;9(1):116.

Hu H,* Matter ML,* Issa.Jahns L,* Jijiwa M, Kraemer N, Musante L, de la Vega M, Ninnemann O, Schindler D, Damatova N, Eirich K, Sifringer M, Schrötter S, Eickholt BJ, van den Heuvel B, Casamina C, Stoltenburg-Didinger G, Ropers HH, Wienker TF, Hübner Ch, Kaindl AM. PTRH2 mutations cause novel infantile multisystem disease with intellectual disability. Ann Clin Transl Neurol 2014;1(12):1024-35.

 

2013

Degos V, Peineau S, Nijboer C, Kaindl AM, Sigaut S, Favrais G, Plaisant F, Tessier N, Gouadon E, Lombet A, Saliba E, Collingridge GL, Maze M, Nicoletti F, Heijnen C, Mantz J, Kavelaars A, Gressens P. A novel mechanism underlying inflammation-induced excitotoxic neurodegenration. Ann Neurol 2013;73(5):667-78.

Hirata H, Nanda I, van Riesen A, McMichael G, Hu H, Hambrock M, Papon MA, Fischer U, Marouillat S, Ding C, Alirol S, Bienek M, Preisler-Adams S, Grimme A, Seelow D, Webster R, Haan E, MacLennan A, Stenzel W, Yap TY, Gardner A, Nguyen LS, Shaw M, Lebrun N, Haas SA, Kress W, Haaf T, Schellenberger E, Chelly J, Viot G, Shaffer LG, Rosenfeld JA, Kramer N, Falk R, El-Khechen D, Escobar LF, Hennekam R, Wieacker P, Hübner C, Ropers HH, Gecz J, Schuelke M, Laumonnier F, Kalscheuer VM. ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity. Am J Hum Genet 2013;92(5):681-95.

Holterhus PM, Bokelmann J, Riepe F, Heidtmann B, Wagner V, Rami-Merhar B, Kapellen T, Raile K, Quester W, Holl RW; German/Austrian DPV-Initiative and the German Pediatric CSII Working Group. Predicting the optimal basal insulin infusion pattern in children and adolescents on insulin pumps. Diabetes Care 2013;36(6):1507-11.

Issa L, Kraemer N, Rickert CH, Sifringer M, Ninnemann O, Stoltenburg-Didinger G, Kaindl AM. CDK5RAP2 expression during murine and human brain development correlates with pathology in primary autosomal recessive microcephaly. Cerebr Cortex 2013;23(9):2245-60.

Chung SK, Bode A, Cushion TD, Thomas RH, Hunt C, Wood SE, Pickrell WO, Drew CJ, Yamashita S, Shiang R, Leiz S, Longardt AC, Raile V, Weschke B, Puri RD, Verma IC, Harvey RJ, Ratnasinghe DD, Parker M, Rittey C, Masri A, Lingappa L, Howell OW, Vanbellinghen JF, Mullins JG, Lynch JW, Rees MI. GLRB is the third major gene of effect in hyperekplexia. Hum Mol Genet 2013;22(5):927-40.

Reinehr T, Wiegand S, Siegfried W, Keller KM, Widhalm K, l'Allemand D, Zwiauer K, Holl RW. Comorbidities in overweight children and adolescents: do we treat them effectively? Int J Obes (Lond) 2013;37(4):493-9.

Körner A, Wiegand S, Hungele A, Tuschy S, Otto KP, L'allemand-Jander D, Widhalm K, Kiess W, Holl RW. Longitudinal multicenter analysis on the course of glucose metabolism in obese children. Int J Obes (Lond).2013 ;37(7):931-6.

Luksch H, Romanowski MJ, Chara O, Tüngler V, Caffarena ER, Heymann MC, Lohse P, Aksentijevich I, Remmers EF, Flecks S, Quoos N, Gramatté J, Petzold C, Hofmann SR, Winkler S, Pessler F, Kallinich T, Ganser G, Nimtz-Talaska A, Baumann U, Runde V, Grimbacher B, Birmelin J, Gahr M, Roesler J, Rösen-Wolff A. Naturally occurring genetic variants of human caspase-1 differ considerably in structure and the abiity to activate IL-1b. Hum Mutat 2013;34(1):122-31.

Issa L, Mueller K, Seufert K, Kraemer N, Rosenkotter H, Ninnemann O, Buob M, Kaindl AM* Morris-Rosendahl D.* Clinical and cellular features in patients with primary autosomal recessive microcephaly and a novel CDK5RAP2 mutation. Orphanet J Rare Dis 2013;8:59.

Farag HG, Froehler S, Oexle K, Ravindran E, Schindler D, Staab T, Huebner A, Kraemer N, Chen W, Kaindl AM. Abnormal centrosome and spindle morphology in a patient with autosomal recessive primary microcephaly type 2 due to heterozygous WDR62 gene mutations. Orphanet J Rare Dis 2013;8:178.

 

2012

Ludvigsson J, Krisky D, Casas R, Battelino T, Castaño L, Greening J, Kordonouri O, Otonkoski T, Pozzilli P, Robert JJ, Veeze HJ, Palmer J, Samuelsson U, Elding Larsson H, Åman J, Kärdell G, Neiderud Helsingborg J, Lundström G, Albinsson E, Carlsson A, Nordvall M, Fors H, Arvidsson CG, Edvardson S, Hanås R, Larsson K, Rathsman B, Forsgren H, Desaix H, Forsander G, Nilsson NÖ, Åkesson CG, Keskinen P, Veijola R, Talvitie T, Raile K, Kapellen T, Burger W, Neu A, Engelsberger I, Heidtmann B, Bechtold S, Leslie D, Chiarelli F, Cicognani A, Chiumello G, Cerutti F, Zuccotti GV, Gomez Gila A, Rica I, Barrio R, Clemente M, López Garcia MJ, Rodriguez M, Gonzalez I, Lopez JP, Oyarzabal M, Reeser HM, Nuboer R, Stouthart P, Bratina N, Bratanic N, de Kerdanet M, Weill J, Ser N, Barat P, Bertrand AM, Carel JC, Reynaud R, Coutant R, Baron S. GAD65 antigen therapy in recently diagnosed type 1 diabetes mellitus. N Engl J Med 2012;366(5):433-42.

Kaindl AM, Degos V, Peineau S, Gouadon E, Loron G, Collingridge GL, Lombet A, Kavelaars A, Verney C, Mantz J, Gressens P. NMDA receptors are expressed in microglia, regulate the inflammatory response and mediate neuronal injury. Ann Neurol 2012;72(4):536-49.

Gerss J, Roth J, Holzinger D, Ruperto N, Wittkowski H, Frosch M, Wulffraat N, Wedderburn L, Stanevicha V, Mihaylova D, Harjacek M, Len C, Toppino C, Masi M, Minden K, Saurenmann T, Uziel Y, Vesely R, Apaz MT, Kuester RM, Elorduy MJ, Burgos-Vargas R, Ioseliani M, Magni-Manzoni S, Unsal E, Anton J, Balogh Z, Hagelberg S, Mazur-Zielinska H, Tauber T, Martini A, Foell D; Paediatric Rheumatology International Trials Organization (PRINTO). Phagocyte-specific S100 proteins and high-sensitivity C reactive protein as biomarkers for a risk-adapted treatment to maintain remission in juvenile idiopathic arthritis: a comparative study. Ann Rheum Dis 2012;71(12):1991-7.

Kuehnen P, Mischke M, Wiegand S, Sers C, Horsthemke B, Lau S, Keil T, Lee YA, Grueters A, Krude H. An Alu element-associated hypermethylation variant of the POMC gene is associated with childhood obesity. PLoS Genet. 2012;8(3):e1002543.

Minden K, Niewerth M, Zink A, Seipelt E, Foeldvari I, Girschick H, Ganser G, Horneff G. Long-term outcome of patients with JIA treated with etanercept, results of the biologic register JuMBO. Rheumatology (Oxford) 2012;51(8):1407-15.

Horneff G, Fitter S, Foeldvari I, Minden K, Kuemmerle-Deschner J, Tzaribacev N, Thon A, Borte M, Ganser G, Trauzeddel R, Huppertz HI. Double-blind, placebo-controlled randomized trial with adalimumab for treatment of juvenile onset ankylosing spondylitis (JoAS): significant short term improvement. Arthritis Res Ther 2012;14(5):R230.

Brumm H, Mühlhaus J, Bolze F, Scherag S, Hinney A, Hebebrand J, Wiegand S, Klingenspor M, Grüters A, Krude H, Biebermann H. Rescue of melanocortin 4 receptor (MC4R) nonsense mutations by aminoglycoside-mediated read-through. Obesity (Silver Spring) 2012;20(5):1074-81.

 

2011

Heijstek MW, Ott de Bruin LM, Bijl M, Borrow R, van der Klis F, Koné-Paut I, Fasth A, Minden K, Ravelli A, Abinun M, Pileggi GS, Borte M, Wulffraat NM; EULAR. EULAR recommendations for vaccination in paediatric patients with rheumatic diseases. Ann Rheum Dis 2011;70(10):1704-12.

Galler A, Lindau M, Ernert A, Thalemann R, Raile K. Associations between media consumption habits, physical activity, socioeconomic status, and glycemic control in children, adolescents, and young adults with type 1 diabetes. Diabetes Care 2011; 34: 2356-2359.

Hammes HP, Kerner W, Hofer S, Kordonouri O, Raile K, Holl RW; DPV-Wiss Study Group. Diabetic retinopathy in type 1 diabetes-a contemporary analysis of 8,784 patients. Diabetologia 2011;54(8):1977-84.

Živičnjak M*, Schnabel D*, Staude H, Even G, Marx M, Beetz R, Holder M, Billing H, Fischer DC, Rabl W, Schumacher M, Hiort O, Haffner D; Hypophosphatemic Rickets Study Group of the Arbeitsgemeinschaft für Pädiatrische Endokrinologie and Gesellschaft für Pädiatrische Nephrologie. Three-year growth hormone treatment in short children with X-linked hypophosphatemic rickets: effects on linear growth and body disproportion. J Clin Endocrinol Metab 2011;96(12):E2097-105.

Alatzoglou KS, Kelberman D, Cowell CT, Palmer R, Arnhold IJ, Melo ME, Schnabel D, Grueters A, Dattani MT. Increased transactivation associated with SOX3 polyalanine tract deletion in a patient with hypopituitarism. J Clin Endocrinol Metab 2011;96(4):E685-90.

Titomanlio L, Bouslama M, Le Verche V, Dalous J, Kaindl AM, Tsenkina Y, Lacaud A, Peineau S, El Ghouzzi V, Lelièvre V, Gressens P. Implanted neurosphere-derived precursors promote recovery after neonatal excitotoxic brain injury. Stem Cells Dev 2011;20(5):865-79.

Kuehnen P, Laubner K, Raile K, Schöfl C, Jakob F, Pilz I, Päth G, Seufert J. Protein phosphatase 1 (PP-1)-dependent inhibition of insulin secretion by leptin in INS-1 pancreatic β-cells and human pancreatic islets. Endocrinology 2011;152(5):1800-8.

Awa WL, Thon A, Raile K, Grulich-Henn J, Meissner T, Schober E, Holl RW; DPV-Wiss. Study Group. Genetic and clinical characteristics of patients with HNF1A gene variations from the German-Austrian DPV database. Eur J Endocrinol 2011;164(4):513-20.

Horneff G, Foeldvari I, Minden K, Moebius D, Hospach T. Report on malignancies in the German juvenile idiopathic arthritis registry. Rheumatology (Oxford) 2011;50(1):230-6.

Garten L, Daehmlow S, Reindl T, Wendt A, Münch A, Bührer C. End-of-life opioid administration on neonatal and pediatric intensive care units: nurses`attitudes and practice. Eur J Pain 2011;15(9):958-65.

 

2010

Speliotes EK, Willer CJ, Berndt SI, Monda KL, Thorleifsson G, Jackson AU, Allen HL, Lindgren CM, Luan J, Mägi R, Randall JC, Vedantam S, Winkler TW, Qi L, Workalemahu T, Heid IM, Steinthorsdottir V, Stringham HM, Weedon MN, Wheeler E, Wood AR, Ferreira T, Weyant RJ, Segrè AV, Estrada K, Liang L, Nemesh J, Park JH, Gustafsson S, Kilpeläinen TO, Yang J, Bouatia-Naji N, Esko T, Feitosa MF, Kutalik Z, Mangino M,…Wiegand S…Kaplan RC, Mohlke KL, O'Connell JR, Peltonen L, Schlessinger D, Strachan DP, van Duijn CM, Wichmann HE, Frayling TM, Thorsteinsdottir U, Abecasis GR, Barroso I, Boehnke M, Stefansson K, North KE, McCarthy MI, Hirschhorn JN, Ingelsson E, Loos RJ. Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. Nat Genet 2010;42(11):937-48.

Lorenz-Depiereux B, Schnabel D, Tiosano D, Häusler G, Strom TM. Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets. Am J Hum Genet 2010;86(2):267-72.

Kallinich T, Wittkowski H, Keitzer R, Roth J, Foell D. Neutrophil-derived S100A12 as novel biomarker of inflammation in familial Mediterranean fever. Ann Rheum Dis 2010;69:677-82.

Garin I, Edghill EL, Akerman I, Rubio-Cabezas O, Rica I, Locke JM, Maestro MA, Alshaikh A, Bundak R, del Castillo G, Deeb A, Deiss D, Fernandez JM, Godbole K, Hussain K, O'Connell M, Klupa T, Kolouskova S, Mohsin F, Perlman K, Sumnik Z, Rial JM, Ugarte E, Vasanthi T; Neonatal Diabetes International Group, JohnstoneK, Flanagan SE, Martínez R, Castaño C, Patch AM, Fernández-Rebollo E, Raile K, Morgan N, Harries LW, Castaño L, Ellard S, Ferrer J, Perez de Nanclares G, Hattersley AT. Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis. Proc Natl Acad Sci U S A 2010;107(7):3105-10.

Ruperto N, Lovell DJ, Quartier P, Paz E, Rubio-Pérez N, Silva CA, Abud-Mendoza C, Burgos-Vargas R, Gerloni V, Melo-Gomes JA, Saad-Magalhães C, Chavez-Corrales J, Huemer C, Kivitz A, Blanco FJ, Foeldvari I, Hofer M, Horneff G, Huppertz HI, Job-Deslandre C, Loy A, Minden K, Punaro M, Nunez AF, Sigal LH, Block AJ, Nys M, Martini A, Giannini EH; Paediatric Rheumatology International Trials Organization and the Pediatric Rheumatology Collaborative Study Group. Long-term safety and efficacy of abatacept in children with juvenile idiopathic arthritis. Arthritis Rheum 2010;62(6):1792-802.

Saad-Magalhães C, Pistorio A, Ravelli A, Filocamo G, Viola S, Brik R, Mihaylova D, Ten Cate R, Andersson Gare B, Ferriani VP, Minden K, Hashkes PJ, Rygg M, Sauvain MJ, Venning H, Martini A, Ruperto N. Does removal of AIDS/devices and help make a difference in the Childhood Health Assessment Questionnaire Disability Index? Ann Rheum Dis 2010;69:82-7.

Rohrer TR, Hennes P, Thon A, Dost A, Grabert M, Rami B, Wiegand S, Holl RW; DPV Initiative. Down's syndrome in diabetic patients aged <20 years: an analysis of metabolic status, glycaemic control and autoimmunity in comparison with type 1 diabetes. Diabetologia 2010;53(6):1070-5.

Letz S, Rus R, Haag C, Dörr HG, Schnabel D, Möhlig M, Schulze E, Frank-Raue K, Raue F, Mayr B, Schöfl C. Novel Activating Mutations of the Calcium-Sensing Receptor: The Calcilytic NPS-2143 Mitigates Excessive Signal Transduction of Mutant Receptors. J Clin Endocrinol Metab 2010; 95 (10): e229-233.

Dean JM, Wang X, Kaindl AM, Gressens P, Fleiss B, Hagberg H, Mallard C. Microglial MyD88 signaling regulates acute neuronal toxicity of LPS-stimulated microglia. Brain Behav Immun 2010;24(5):776-83.

Wiegand S., Keller K.M., Röbl M., L'Allemand D., Reinehr T., Widhalm K., Holl R.W.; APV-Study Group and the German Competence Network Adipositas. Obese boys at increased risk for nonalcoholic liver disease: evaluation of 16,390 overweight or obese children and adolescents. Int J Obes (Lond). 2010;34:1468-74.

Friedrich K, Lee L, Leistritz DF, Nürnberg G, Saha B, Hisama FM, Eyman DK, Lessel D, Nürnberg P, Li C, Garcia-F-Villalta MJ, Kets CM, Schmidtke J, Cruz VT, Van den Akker PC, Boak J, Peter D, Compoginis G, Cefle K, Ozturk S, López N, Wessel T, Poot M, Ippel PF, Groff-Kellermann B, Hoehn H, Martin GM, Kubisch C, Oshima J. WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations. Hum Genet 2010;128(1):103-11.

Bührer C, Kaindl AM. Common molecular causes for congenital heart defects and microcephaly. Am J Obstet Gynecol 2010;202(2):7-8.

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