Klaus brusgaard - publications

Two novel mutations in RNU4ATAC in two siblings with an atypical mild phenotype of microcephalic osteodysplasticprimordial dwarfism type 1. Krøigård AB, Jackson AP, Bicknell LS, Baple E, Brusgaard K, Hansen LK,Ousager LB. Clinical Dysmorphology 2015 Dec 4.

 

JP-HHT phenotype in Danish patients withSMAD4 mutations. Jelsig AM, Tørring PM, Kjeldsen AD, Qvist N, Bojesen A, Jensen UB,Andersen MK, Gerdes AM, Brusgaard K, Ousager LB. Clinical Genetics. 2015 Nov17.

Noonansyndrome can be diagnosed clinically and through molecular genetic analyses.Henningsen MK, Jelsig AM, Andersen H, Brusgaard K, Ousager LB,Hertz JM. Ugeskrift for Laeger. 2015 Aug 3;177(32):V12140755. Danish.

Apatient diagnosed herself with erythropoietic protoporphyria after googlingphotosensitivity. Christiansen AL, Brusgaard K,Hertz JM, Bygum A. Ugeskrift for Laeger. 2015 Jul 20;177(30). pii: V01150015. Danish. 

NeonatalHigh Bone Mass With First Mutation of the NF-κB Complex: Heterozygous De Novo Missense(p.Asp512Ser) RELA (Rela/p65). Frederiksen AL, Larsen MJ, Brusgaard K, Novack DV, Knudsen PJ, SchrøderHD, Qiu W, Eckhardt C, McAlister WH, Kassem M, Mumm S, Frost M, Whyte MP. Journal of Bone and Mineral Research 2015 Jul 14.

Globalgene expression profiling of telangiectasial tissue from patients withhereditary hemorrhagic telangiectasia. Tørring PM, Larsen MJ, Kjeldsen AD,Ousager LB, Tan Q, Brusgaard K. Microvascular Research 2015 May;99:118-26.

Researchparticipants in NGS studies want to know about incidental findings. Jelsig AM, Qvist N, Brusgaard K, Ousager LB.European Journal of Human Genetics. 2015 Oct;23(10):1423-6.

Testosteronetreatment increases androgen receptor and aromatase gene expression in myotubesfrom patients with PCOS and controls, but does not induce insulin resistance.Eriksen MB, Glintborg D, Nielsen MF, Jakobsen MA, Brusgaard K, Tan Q, Gaster M. Biochemicaland Biophysical Research Communications. 2014 Sep 5;451(4):622-6.

Hamartomatouspolyposis syndromes: a review. Jelsig AM, Qvist N, Brusgaard K, Nielsen CB,Hansen TP, Ousager LB. Orphanet Journal of Rare Diseases. 2014 Jul 15;9:101.doi: 10.1186/1750-1172-9-101.

Longnon-coding RNA expression profiles in hereditary haemorrhagic telangiectasia.Tørring PM, Larsen MJ, Kjeldsen AD, Ousager LB, Tan Q, Brusgaard K. PLoS One.2014 Mar 6;9(3):e90272.

Discoveryof molecular pathways mediating 1,25-dihydroxyvitamin D3 protection againstcytokine-induced inflammation and damage of human and male mouse islets ofLangerhans. Wolden-Kirk H, Rondas D, Bugliani M, Korf H, Van Lommel L,Brusgaard K, Christesen HT, Schuit F, Proost P, Masini M, Marchetti P, EizirikDL, Overbergh L, Mathieu C. Endocrinology. 2014 Mar;155(3):736-47.

Geneticalterations within the DENND1A gene in patients with polycystic ovary syndrome(PCOS). Eriksen MB, Nielsen MF, Brusgaard K, Tan Q, Andersen MS, Glintborg D,Gaster M. PLoS One. 2013 Sep27;8(9):e77186.

Nationalmutation study among Danish patients with hereditary haemorrhagictelangiectasia. Tørring PM, Brusgaard K, OusagerLB, Andersen PE, Kjeldsen AD. Clinical Genet. 2014 Aug;86(2):123-33.

 

The role of SLC2A1 in early onset and childhood absence epilepsies. Muhle, H, Helbig, I, Guldberg Frøsle, T, Suls, A, von Spiczak, S, Line Klitten, L, Atli Dahl, H,  Brusgaard, K, Neubauer, B, De Jonghe, P, Tommerup, N, Stephani,   U, Hjalgrim, H, Steensbjerre Møller, R. 7 jan 2013: Epilepsy Research.

 

Heterogeneity   in   Phenotype   of   Usher-­‐Congenital   Hyperinsulinism   Syndrome:   Hearing   Loss,    Retinitis   Pigmentosa,   and   Hyperinsulinemic   Hypoglycemia   Ranging   from   Severe   to   Mild   with    Conversion   to   Diabetes.    Al   Mutair   AN,   Brusgaard   K,   Bin-­‐Abbas   B,   Hussain   K,   Felimban   N,   Al   Shaikh   A,   Christesen   HT.    Diabetes   Care.   2012      

 

Allelic Dropout in the ENG Gene, Affecting the Results of Genetic Testing in Hereditary Hemorrhagic Telangiectasia.  Mathiesen Tørring, P, Kjeldsen, A. D, Ousager, L. B, Brasch Andersen, C, Brusgaard, K. 2012: Genetic Testing and Molecular Biomarkers.16, 12, s. 1419-­‐23.5

 

Association   of   polycystic   ovary   syndrome   susceptibility   single   nucleotide   polymorphism    rs2479106 and   PCOS   in   Caucasian   patients   with   PCOS   or   hirsutism   as   referral   diagnosis.    Eriksen,   M.   B,   Brusgaard, K,   Andersen,   M,   Tan,   Q,   Altinok,   M.   L,   Gaster,   M,   Glintborg,   D.2012:    European   Journal   of   Obstetrics,   Gynecology   and   Reproductive   Biology.163,   1,   s.   39-­‐42.      

 

Genotype-­‐phenotype   associations   in   children   with   congenital   hyperinsulinism.    Malikyan,   M,   Brusgaard,   K, Petraykina,   E,   Volkov,   I,   Averyanova,   Y,   Kareva,   M,   Peterkova,   V,    Gurevich,   L,   Christesen,   H.   T.2012:   Hormone   Research   in   Paediatrics.76,   2,   s.   225.1   s.     

 

Heterogeneity   in   Phenotype   of   Usher-­‐Congenital   Hyperinsulinism   Syndrome:   Hearing   Loss,    Retinitis Pigmentosa,   and   Hyperinsulinemic   Hypoglycemia   Ranging   from   Severe   to   Mild   with    Conversion   to   Diabetes.    Al   Mutair,   A.   N,   Brusgaard,   K,   Bin-­‐Abbas,   B,   Hussain,   K,   Felimban,   N,   Al   Shaikh,   A,   Christesen,   H.    T.2012:   Diabetes   Care.      

 

Is   the   SPINK1   variant   p.N34S   overrepresented   in   patients   with   acute   pancreatitis?    Jørgensen,   M.   T,   Brusgaard,   K,   Novovic,   S,   Andersen,   A.   M,   Hansen,   M.   B,   Gerdes,   A-­‐M,    Schaffalitzky   de   Muckadell,   O.   B.2012:   European   journal   of   gastroenterology,   hepatology.24,   3,   s.    309-­‐15.7   s.      

 

Mutational   analysis   of   PHEX,   FGF23,   DMP1,   SLC34A3   and   CLCN5   in   patients   with   hypophosphatemic rickets.    Beck-­‐Nielsen,   S.s   hypoglycaemia   causes   loss   of   neurogenic   and   neuroglycopaenic   signs   in   infants    with   congenital   hyperinsulinism    Christesen,   H.   T,   Brusgaard,   K,   Hussain,   K.   2012:   Clinical   Endocrinology.76,   4,   s.   548-­‐54.7   s.      

 

Santa   II   Ongenital   hyperinsulinism.   The   results   of   molecular   genetic   studies   in   the   Russian    population. Melikyan,   M,   Karev,   M.   A,   Petryaykina,   E,   Volkov,   I.   E,   Averyanova,   Y,   Kolomina,   J.   G,   Gurevich, L,    Peterkova,   V.   A,   Brusgaard,   K,   Christesen,   H.   T.2012:   J   Endocrinol.2012;2,   s.   3-­‐7.      

 

Unraveling   the   effects   of   1,25(OH)(2)D(3)   on   global   gene   expression   in   pancreatic   islets.   Wolden-­‐Kirk,   H,   Overbergh,   L,   Gysemans,   C,   Brusgaard,   K,   Naamane,   N,   Van   Lommel,   L,   Schuit,   F,    Eizirik,   D.   L,   Christesen,   H,   Mathieu,   C.   2012:   The   Journal   of   steroid   biochemistry   and   molecular    biology.     

 

Investigation   of   archived   formalin-­‐fixed   paraffin-­‐embedded   pancreatic   tissue   with   whole-­‐ genome   gene   expression   microarray    Michelsen,   N.   V,   Brusgaard,   K,   Tan,   Q,   Thomassen,   M,   Hussain,   K,   Christensen,   H.   T.dec   2011:    Pathology.2011,   275102,   12   s.      

 

The   etiology   of   Multiple   Sclerosis:   Genetic   evidence   for   the   involvement   of   the   human    endogenous   retrovirus   HERV-­‐Fc1.    Nexø   BA,   Christensen   T,   Frederiksen   J,   Larsen   AM,   Oturai   AB,   Villesen   P,   Hansen   B,   Nissen   KK,    Laska   MJ,   Petersen   TS,   Bonnesen   S,   Hedemand   A,   Wu   T,   Wang   Z,   Zhang   X,   Brudek   T,   Maric   R,    Søndergaard   HB,   Sellebjerg   F,   Brusgaard   K,.   Kjeldbjerg   AL,   Rasmussen   HB,   Nielsen   AL,   Nyegaard   M,    Petersen   T,   Børglum   AD,   Pedersen   FS.   PLoS   One.   2011 Feb   2;6(2):e16652.      

 

Intragenic   Duplication   A   Novel   Mutational   Mechanism   in   Hereditary   Pancreatitis    Joergensen,   M.   T, Geisz,   A,   Brusgaard,   K,   de   Muckadell,   O.   B.   S,   Peter,   H,   Gerdes,   A.   M,   Sahin-­‐Toth,    M.   2011:   Pancreas.40,   4,   s.   540-­‐546.7   s.     

 

Kongenit   hyperinsulinisme   -­‐   diagnostik   og   behandling    Christesen,   H.   T,   Fuglsang   Bruun,   M,   Hedegaard Christoffersen,   S,   Rasmussen,   L,   Petersen,   H,    Detlefsen,   S,   Hovendal,   C,   Hansen,   T.   G,   Hansen,   T. P,   Brusgaard,   K. 2011:   Ugeskrift   for   Læger.173,    47,   s.   3020-­‐3025.6   s.      

 

Kongenit   hyperinsulinisme   -­‐   nye   årsager   og   kliniske   variationer    Fuglsang   Bruun,   M,   Hedegaard   Christoffersen,   S,   Brusgaard,   K,   Detlefsen,   S,   Christesen,   H.   T.2011:    Ugeskrift   for   Læger.173,   47,   s.   3026-­‐3031.7   s.      

 

Kongenit   hyperinsulinisme-­‐-­‐diagnostik   og   behandling    Christesen,   H.   T,   Bruun,   M.   F,   Christoffersen,   S.   H,   Rasmussen,   L,   Petersen,   H,   Detlefsen,   S,    Hovendal,   C.   P,   Hansen,   T.   G,   Hansen,   T.   P,   Brusgaard,   K.2011:   Ugeskrift   for   Laeger.173,   47,   s.    3020-­‐5.6   s.      

 

Kongenit   hyperinsulinisme-­‐-­‐nye   årsager   og   kliniske   variationer    Bruun,   M.   F,   Christoffersen,   S.   H,   Brusgaard,   K,   Detlefsen,   S,   Christesen,   H.   T.2011:   Ugeskrift   for    Laeger.173,   47,   s.   3026-­‐31.6   s.     

 

New   mutations   in   APOB100   involved   in   familial   hypobetalipoproteinemia    Brusgaard,   K,   Kjaersgaard,   L,   Hansen,   A-­‐B.   B,   Husby,   S.2011:   Journal   of   Clinical   Lipidology.4,   3,   s.    181-­‐4.4   s.      

 

Recurrent   Spontaneous   Hypoglycaemia   Causes   Loss   of   Neurogenic   and   Neuroglycopaenic   Signs    in   Infants   with   Congenital   Hyperinsulinism.    Christesen,   H.   T,   Brusgaard,   K,   Hussain,   K.   2011:   Clinical   Endocrinology.      

 

The   Etiology   of   Multiple   Sclerosis:   Genetic   Evidence   for   the   Involvement   of   the   Human    Endogenous   Retrovirus   HERV-­‐Fc1.    Brusgaard,   K.2011:   PloS   one.6,   2,   s.   e16652.5   s.      

 

Vitamin   D   and   diabetes:   its   importance   for   beta   cell   and   immune   function.    Wolden-­‐Kirk,   H,   Overbergh,   L,   Christesen,   H.   T,   Brusgaard,   K,   Mathieu,   C.   2011:   Molecular   and    Cellular   Endocrinology.347,   1-­‐2,   s.   106-­‐20.15   s.      

 

Genetic,   epidemiological,   and   clinical   aspects   of   hereditary   pancreatitis:   a   population-­‐based    cohort   study in   Denmark.    Brusgaard,   K.aug   2010:   American   Journal   of   Gastroenterology.105,   8,   s.   1876-­‐1883.7   s.   

 

Phenotype   presentation   of   hypophospathemic   rickets   in   adults.    Beck-­‐Nielsen,   S,   Brusgaard,   K,   Rasmussen,   L.   M,   Brixen,   K,   Brock-­‐Jacobsen,   B,   Poulsen,   M,    Vestergaard,   P,   Ralston,   S.   H,   Albagha,   O.   M,   Poulsen,   S,   Haubek,   D,   Gjørup,   H,   Hintze,   H,    Andersen,   M.   G,   Heickendorff,   L,   von   Bornemann   Hjelmborg,   J,   Gram,   J.   aug   2010:   Calcified   Tissue    International.87,   2,   s.   108-­‐19.     

 

Incidence,   Prevalence,   Etiology,   and   Prognosis   of   First-­‐Time   Chronic   Pancreatitis   in   Young    Patients:   A   Nationwide   Cohort   Study    Joergensen,   M,   Brusgaard,   K,   Crüger,   D.   G,   Gerdes,   A-­‐M,   de   Muckadell,   O.   B.   S.28   jan   2010:    Digestive   Diseases   and   Sciences.55,   10,   s.   2988-­‐2998.      

 

Incidence,   etiology   and   prognosis   of   first-­‐time   acute   pancreatitis   in   young   patients:   a    population-­‐based cohort   study.    Joergensen,   M,   Brusgaard,   K,   Crüger,   D.   G,   Gerdes,   A-­‐M,   Schaffalitzky   de   Muckadell, O.   B.1   jan    2010:   Pancreatology.10,   4,   s.   453-­‐61.9   s.      

 

Clinical,   biochemical   and   molecular-­‐genetic   characteristics   of   27   Russian   patients   with    congenital hyperinsulinism.    Melikyan   ,   M,   Kolomina,   I,   Petryajkina,   E,   Volkov,   O,   Brusgaard,   K,   Christesen,   H.   2010I   :   Hormone    Research   in   Paediatrics.74,   3,   s.   240.1   s.      

 

Phenotype   Presentation   of   Hypophosphatemic   Rickets   in   Adults.    Beck-­‐Nielsen,   S.   S,   Brusgaard,   K, Rasmussen,   L.   M,   Brixen,   K,   Brock-­‐Jacobsen,   B,   Poulsen,   M.   R,    Vestergaard,   P,   Ralston,   S.   H,   Albagha,   O.   M.   E,   Poulsen,   S,   Haubek,   D,   Gjørup,   H,   Hintze,   H,    Andersen,   M.   G,   Heickendorff,   L, Hjelmborg,   J,   Gram,   J.   2010:   Calcified   Tissue   International.87,   2,   s.    108-­‐119.      

 

Severe   arterial   thrombosis   in   a   family   with   type   III   protein   S   deficiency   caused   by   a   frameshift   mutation   in   the   PROS1   gene.    Larsen,   T.   B,   Brusgaard,   K,   Nybo,   M.2010:   Thrombosis   Research.126,   2,   s.   e159-­‐61.3   s.      

 

The   spectrum   of   ABCC8   mutations   in   Norwegian   patients   with   congenital   hyperinsulinism   of   infancy.   Sandal,   T,   Laborie,   L.   B,   Brusgaard,   K,   Eide,   S.   A,   Christesen,   H.   B.   T,   Søvik,   O,   Njølstad,   P.   R,   Molven,    A.   1   maj   2009:   Clinical   Genetics.75,   5,   s.   440-­‐8.8   s.        

 

Transcriptional   profiling   of   myotubes   from   patients   with   type   2   diabetes:   no   evidence   for   a    primary   defect   in   oxidative   phosphorylation   genes.    Frederiksen,   C.   M,   Højlund,   K,   Hansen,   L,   Oakeley,   E.   J,   Hemmings,   B,   Abdallah,   B.   M,   Brusgaard,   K,    Beck-­‐Nielsen,   H,   Gaster,   M.1   nov   2008:   Diabetologia.51,   11,   s.   2068-­‐77.9   s.     

 

Activating   glucokinase   (GCK)   mutations   as   a   cause   of   medically   responsive   congenital   hyperinsulinism: prevalence   in   children   and   characterisation   of   a   novel   GCK   mutation.    Christesen, H.   B.   T,   Tribble,   N.   D,   Molven,   A,   Siddiqui,   J,   Sandal,   T,   Brusgaard,   K,   Ellard,   S,   Njølstad,    P.   R,   Alm,   J,   Brock   Jacobsen,   B,   Hussain,   K,   Gloyn,   A.   L.   1   jul   2008:   European   Journal   of    Endocrinology.159,   1,   s.   27-­‐34.7   s.      

 

Non-­‐insulinoma   persistent   hyperinsulinaemic   hypoglycaemia   caused   by   an   activating    glucokinase   mutation:   Hypoglycaemia   unawareness   and   attacks.    Christesen,   H.   T,   Brusgaard,   K,   Beck-­‐Nielsen,   H,   Brock-­‐Jacobsen,   B.2008:   Clinical   Endocrinology.68,    5,   s.   747-­‐755.      

 

Transciptional   profiling   of   myotubes   from   patients   with   type   2   diabetes:   No   evidence   for   a    primary   defect   in   oxidative   phosophorylation   genes.    Frederiksen,   C.   M,   Højlund,   K,   Hansen,   L,   Oakeley,   E.   J, Hemmings,   B,   Abdallah,   B,   Brusgaard,   K,    Beck-­‐Nielsen,   H,   Gaster,   M.2008:   Diabetologia.51,   11,   s.   2068-­‐77.      

 

No   certain   predictors   for   mutation   status   in   a   Danish   cohort   with   familial   hypercholesterolemia:    a   descriptive   study.    Nybo,   M,   Brusgaard,   K,   Hansen,   A.   B.1   dec   2007:   Clinical   Biochemistry.40,   18,   s. 1347-­‐52.6   s.      

 

Reduced   expression   of   nuclear-­‐encoded   genes   involved   in   mitochondrial   oxidative   metabolism    in skeletal   muscle   of   insulin-­‐resistant   women   with   polycystic   ovary   syndrome.    Skov,   V,   Glintborg,   D,   Knudsen,   S,   Kruse,   T.   A,   Jensen,   T,   Tan,   Q,   Brusgaard,   K,   Beck-­‐Nielsen,   H,    Højlund,   K.1   sep   2007:   Diabetes.56,   9,   s.   2349-­‐2355.6   s.      

 

Complex   ABCC8   DNA   variations   in   congenital   hyperinsulinism:   lessons   from   functional   studies.   Muzyamba,   M,   Farzaneh,   T,   Behe,   P,   Thomas,   A,   Christesen,   H.   T,   Brusgaard,   K,   Hussain,   K,   Tinker,    A.   1   jul   2007:   Clinical   Endocrinology.67,   1,   s.   115-­‐124.9   s.      

 

Arrayed   primer   extension   in   the   "array   of   arrays"   format:   a   rational   approach   for   microarray-­‐ based   SNP   genotyping.    Klitø,   N.   G.   F,   Tan,   Q,   Nyegaard,   M,   Brusgaard,   K,   Thomassen,   M,   Skouboe,   C,   Dahlgaard,   J,   Kruse,    T.   A.1   jan   2007:   Genetic   Testing.11,   2,   s.   160-­‐6.6   s.      

 

Rapid   genetic   analysis   in   congenital   hyperinsulinism.    Christesen,   H.   B.   T,   Brusgaard,   K,   Alm,   J,   Sjöblad,   S,   Hussain,   K,   Fenger,   C,   Rasmussen,   L,   Hovendal,    C,   Otonkoski,   T,   Jacobsen,   B.   B.1   jan   2007:   Hormone   Research.67,   4,   s.   184-­‐188.4   s.        

 

Molecular   genetic   analysis   of   1053   Danish   individuals   with   clinical   signs   of   familial   

hypercholesterolemia.    Bruusgaard,   K,   Jordan,   P,   Hansen,   H,   Hansen,   A.   B,   Hørder,   M.2006:   Clinical   Genetics.69,   s.   277-­‐ 283.     

 

Hyperinsulinemic   hypoglycemia   in   Beckwith-­‐Wiedemann   syndrome   due   to   defects   in   the    function   of   pancreatic   beta-­‐cell   adenosine   triphosphate-­‐sensitive   potassium   channels.    Hussain,   K,   Cosgrove,   K.   E,   Shepherd,   R.   M,   Luharia,   A,   Smith,   V,   Kassem,   S,   Gregory,   J.   W,    Sivaprasadarao,   A,   Christesen,   H.   T,   Jacobsen,   B.   B,   Brusgaard,   K,   Glaser,   B,   Maher,   E.   A,   Lindley,   K.    J,   Hindmarsh,   P,   Dattani,   M,   Dunne,   M.   J.   1   jun   2005:   Journal   of   Clinical   Endocrinology   and    Metabolism.90,   7,   s.   4376-­‐82.7   s.      

 

Clinical   symptoms   according   to   genotype   amongst   patients   with   hereditary   haemorrhagic    telangiectasia.   Kassem,   M,   Moller,   T.   R,   Brusgaard,   K,   Vase,   P,   Andersen,   P.   E.   2005:   Journal   of   Internal   Medicine.258,   s.   349-­‐355.      

 

Clinical   symptoms   according   to   genotype   HHT1   or   HHT2   in   patients   with   Hereditary    Haemorrhagic   Telangiectasia   (HHT).    Kjeldsen,   A.   D,   Møller,   T.   R,   Brusgaard,   K,   Vase,   P,   Andersen,   P.   E.   2005:   Journal   of   Internal    Medicine.258,   4,   s.   349-­‐55.      

 

Hyperinsulinemic   hypoglycemia   in   Beckwith-­‐Wiedemann   syndrome   due   to   defects   in   the    function   of   pancreatic   beta-­‐cell   adenosine   triphosphatesensitive   potassium   channels.    Hussain,   K,   Cosgrove,   K.   E,   Shepherd,   R.   M,   Luharia,   A,   Smith,   V.   V,   Kassem,   S,   Gregory,   J.   W,    Sivaprasadarao,   A,   Christesen,   H.   T,   Jacobsen,   B.   B,   Brusgaard,   K,   Glaser,   B,   Maher,   E.   A,   Lindley,   K.    J,   Hindmarsh,   P,   Dattani,   M,   Dunne,   M.   J.   2005:   Journal   of   Clinical   Endocrinology   and    Metabolism.90,   s.   4376-­‐82.      

 

Serum   glucagon   counter-­‐regulatory   hormonal   response   to   hypoglycaemia   is   blunted   in    persistent   hyperinsulinism   of   infancy.    Hussain,   K,   Bryan,   J,   Christesen,   H.   T,   Brusgaard,   K,   Aguilar-­‐Bryan,   L.   2005:   Diabetes.54,   s.   2946-­‐ 2951.      

 

Serum   glucagon   counterregulatory   hormonal   response   to   hypoglycemia   is   blunted   in   congenital   hyperinsulinism.    Hussain,   K,   Bryan,   J,   Christesen,   H.   T,   Brusgaard,   K,   Aguilar-­‐Bryan,   L.   2005:   Diabetes.54,   s.   2946-­‐ 2951.      

 

Significantly   higher   ACTH   stimulated   cortisol   and   17-­‐   hydroxyprogesterone   levels   in   337   consecutive,   premenopausal,   Caucasian,   hirsute   patients   compared   to   healthy   controls.   A    genetic, biochemical   and   clinical   study.    Glintborg,   D,   Hermann,   A.   P,   Brusgaard,   K,   Hangaard,   J,   Hagen,   C,   Andersen,   M.   2005:   Journal   of    Clinical   Endocrinology   and   Metabolism.90,   s.   1347-­‐1353.      

 

Significantly   higher   adrenocorticotropin-­‐stimulated   cortisol   and   17-­‐hydroxyprogesterone   levels    in   337   consecutive,   premenopausal   Caucasian,   hirsute   patients   compared   with   healthy   controls.  Glintborg,   D,   Hermann,   A.   P,   Brusgaard,   K,   Hangaard,   J,   Hagen,   C,   Andersen,   M.2005:   Journal   of   Clinical   Endocrinology   and   Metabolism.90,   s.   1347-­‐1353.     

 

Mutations   in   endoglin   and   in   activin   receptor-­‐like   kinase   1   among   Danish   patients   with    hereditary   haemorrhagic   telangiectasia.    Brusgaard,   K,   Kjeldsen,   A.   D,   Poulsen,   L,   Moss,   H,   Vase,   P,   Rasmussen,   K,   Kruse,   T.   A,   Hørder,   M.jan    2004:   Clinical   Genetics.66,   6,   s.   556-­‐61.6   s.     

 

Correspondance   analysis   of   microarray   time-­‐course   data   in   case   control   design.    Tan,   Q,   Brusgaard,   K,   Kruse,   T,   Oakley,   E,   Hemmings,   B,   Beck-­‐Nielsen,   H,   Hansen,   L,   Gaster,    M.2004I   :   Journal   of   Biomedical   Informatics.37,   s.   358-­‐365.      

 

Expression   profiling   of   insulin   action   in   human   myotubes:   induction   of   inflammatory   and   proangiogenic   pathways   in   relationship   with   glycogen   synthesis   and   type   2   diabetes.    Hansen,   L, Gaster,   M,   Oakeley,   E.   J,   Brusgaard,   K,   Nielsen,   E.   M.   D,   Beck-­‐Nielsen,   H.2004:    Biochemical   and   Biophysical   Research   Communications.323,   s.   685-­‐695.      

 

Expression   profiling   of   insulin   action   in   human   myotubes:   induction   of   inflammatory   and   pro-­‐ angiogenic pathways   in   relationship   with   glycogen   synthesis   and   type   2   diabetes.    Hansen,   L,   Gaster,   M,   Oakeley,   E.   J,   Brusgaard,   K,   Nielsen,   E.   M.   D,   Beck-­‐Nielsen,   H,   Pedersen,   O,   Hemmings,   B.   A.   2004   :   Biochemical   and   Biophysical   Research   Communications.323,   s.   685-­‐695.      

 

Laparoscopic   diagnosis   and   cure   in   2   cases   of   neonatal   focal   hyperinsulinism.    de   Vroede,   M,   Bax,   N.   M.   A,   Brusgaard,   K,   Dunne,   M,   Groenendaal,   F.   2004   :   Audio-­‐Digest    Pediatrics.114,   s.   520-­‐522. 

 

The   primary   defect   in   glycogen   synthase   activity   is   not   based   on   glycogen   synthase   kinase-­‐3   a   activity   in   diabetic   myotubes.    Gaster,   M,   Brusgaard,   K,   Handberg,   A,   Højlund,   K,   Wojtaszewski,   J.   F.   P,   Beck-­‐Nielsen,   H.2004   :    Biochemical   and   Biophysical   Research   Communications.319,   s.   1235-­‐1240.      

 

The   primary   defect   in   glycogen   synthase   activity   is   not   based   on   glycogen   synthase   kinase-­‐3   an   activity   in   diabetic   myotubes    Gaster,   M,   Brusgaard,   K,   Handberg,   A,   Højlund,   K,   Wojtaszewsk,   J.   F. P,   Beck-­‐Nielsen,   H.2004:    Biochemical   and   Biophysical   Research   Communications.319,   s.   1235-­‐1240.     

 

Functional   and   immunohistochemical   evaluation   of   porcine   neonatal   islet-­‐like   cell   clusters.    Nielsen,   T.   B,   Yderstraede,   K.   B,   Schrøder,   H.   D,   Holst,   J.   J,   Brusgaard,   K,   Beck-­‐Nielsen,   H.1   jan   2003:    Cell Transplantation.12,   1,   s.   13-­‐25.12   s.      

 

A   heterozygous   Kir6.2   mutation   cause   transient   congenital   hyperinsulinism.    Christesen,   H.   T,   Brock-­‐Jacobsen,   B,   Brusgaard,   K,   Sivaprasadarao,   R.   A,   Mankouri,   J,   Smith,   A.    2003:   Hormone   Research.60   (S2),   s.   13.      Functional   and   immunohistochemical   evaluation   of   porcine   neonatal   islet-­‐like cell   clusters    Nielsen,   T.   B,   Yderstraede,   K.   B,   Schrøder,   H.   D,   Holst,   J.   J,   Brusgaard,   K,   Beck-­‐Nielsen,   H.2003I   :   Cell    Transplantation.12(1),   s.   13-­‐25.     

 

Hyperinsulinaemic   hypoglycaemia   in   Beckwith-­‐Weidemann   Syndrome   (BWS)   due   to   defects   in    pancreatic beta-­‐cell   ATP-­‐sensitive   K+   channels.    Hussain,   K,   Cosgrove,   K.   E,   Smith,   V,   Gregory,   J.   W,   Christesen,   H.   B.   T,   Jacobsen,   B.   B,   Brusgaard,   K,    Dattani,   M,   Hindmarsh,   P,   Lindley,   K.   J,   Dunne,   M.   J.   2003:   Hormone   Research.60(S2),   s.   20.      

 

New   mutations   in   the   lipoprotein   lipase   gene   in   a   young   boy   with   chylomicronaemia   syndrome and   in   his   family.    Brites,   F,   Henriksen,   F,   Fernandez,   K,   Brusgaard,   K,   Castro,   G,   Wikinski,   R.   2003:   Acta    Paediatrica.92(5),   s.   621-­‐624.      

 

Screening   of   families   with   Familial   Hypercholesterolemia   for   LPL   mutations    Nybo,   M,   Brusgaard,   K,   Hørder,   M.2003:   Clinical   Chemistry   and   Laboratory   Medicine.      

 

A   novel   activating   glucokinase   mutation   in   a   family   with   hypoglycaemia    Christesen,   H.   T,   Brock-­‐Jacobsen,   B,   Cuesta-­‐Munoz,   A,   Massa,   O,   Hansen,   T,   Brusgaard,   K,    Matschinsky,   F.   M,   Rusca,   G,   Babetti,   F.   2002:   Diabetes.51,   4,   s.   1240-­‐1246.      

 

Effect   of   insulin   on   protein   phosphatase   2A   expression   in   muscle   in   type   2   diabetes    Højlund,   K,   Poulsen,   M,   Bisgaard   Stæhr,   P,   Brusgaard,   K,   Beck-­‐Nielsen,   H.2002:   European   Journal   of    Clinical Investigation.32,   12,   s.   918-­‐923.      

 

The   second   activating   glucokinase   mutation   (A456V):   Implications   for   glucose   homeostasis   and   diabetes therapy    Christesen,   H.   T,   Jacobsen,   B.   B,   Odill,   S,   Buettger,   C,   Cuesta-­‐Munoz,   A,   Hansen, T,   Brusgaard,   K,    Massa,   O,   Magnuson,   M.   A,   Shiota,   C,   Matschinsky,   F.   M,   Barbetti,   F.   2002:   Diabetes.51,   s.   1240-­‐6.      

 

Brock:   Kongenit   hyperinsulinisme    Christesen,   H.   T,   Brusgaard,   K,   Jacobsen,   B.   2001:   Ugeskrift   for   læger.163,   s.   2354-­‐2358.      

 

Kongenit   hyperinsulinisme    Christesen,   H.   B,   Brusgaard,   K,   Jacobsen,   B.   B.2001:   Ugeskrift   for   Laeger.163,   17,   s.   2354-­‐8.5   s.      

 

Mutations   in   the   ALK-­‐1   gene   and   the   phenotype   of   hereditary   hemorrhagic   telangiectasia   in   two large Danish   families    Kjeldsen,   A.   D,   Brusgaard,   K,   Poulsen,   L,   Kruse,   T,   Rasmussen,   K,   Green,   A,   Vase,   P.   2001:   American    Journal   of   Medical   Genetics.   Part   B:   Neuropsychiatric   Genetics.98,   4,   s.   298-­‐302.5   s.      

 

CYP2D6   genotype   determination   in   the   Danish   population.    Brøsen,   K,   Nielsen,   P.   N,   Brusgaard,   K,   Gram,   L.   F,   Skjødt,   K.1   jan   1994:   European   Journal   of   Clinical    Pharmacology.47,   3,   s.   221-­‐5.4   s.