Prati
Bart Janssen
Bart Janssen
GenomeScan B.V.
Potvrđena adresa e-pošte na genomescan.nl - Početna stranica
Naslov
Citirano
Citirano
Godina
Identification of the Tuberous Sclerosis Gene TSC1 on Chromosome 9q34
M Slegtenhorst, R Hoogt, C Hermans, M Nellist, B Janssen, S Verhoef, ...
Science 277 (5327), 805-808, 1997
18951997
Identification and characterization of the tuberous sclerosis gene on chromosome 16
European Chromosome 16 Tuberous Sclerosis Consortium
Cell 75 (7), 1305-1315, 1993
15251993
The polycystic kidney disease 1 gene encodes a 14 kb transcript and lies within a duplicated region on chromosome 16
European Polycystic Kidney Disease Consortium
Cell 77 (6), 881-894, 1994
7751994
Mutations of the TGF‐β type II receptor BMPR2 in pulmonary arterial hypertension
RD Machado, MA Aldred, V James, RE Harrison, B Patel, EC Schwalbe, ...
Human mutation 27 (2), 121-132, 2006
5252006
Leading prognostic relevance of the BCR-ABL translocation in adult acute B-lineage lymphoblastic leukemia: a prospective study of the German Multicenter Trial Group and …
B GLEIßNER, N Gökbuget, CR Bartram, B Janssen, H Rieder, ...
Blood, The Journal of the American Society of Hematology 99 (5), 1536-1543, 2002
4282002
Carnosine as a Protective Factor in Diabetic Nephropathy: Association With a Leucine Repeat of the Carnosinase Gene CNDP1
B Janssen, D Hohenadel, P Brinkkoetter, V Peters, N Rind, C Fischer, ...
Diabetes 54 (8), 2320-2327, 2005
3762005
Genetic basis of pulmonary arterial hypertension: current understanding and future directions
JH Newman, RC Trembath, JA Morse, E Grunig, JE Loyd, S Adnot, ...
Journal of the American College of Cardiology 43 (12S), S33-S39, 2004
3392004
Abnormal pulmonary artery pressure response in asymptomatic carriers of primary pulmonary hypertension gene
E Grünig, B Janssen, D Mereles, U Barth, MM Borst, IR Vogt, C Fischer, ...
Circulation 102 (10), 1145-1150, 2000
3092000
Genome-wide association study identifies three new melanoma susceptibility loci
JH Barrett, MM Iles, M Harland, JC Taylor, JF Aitken, PA Andresen, ...
Nature genetics 43 (11), 1108-1113, 2011
2932011
Stress Doppler echocardiography in relatives of patients with idiopathic and familial pulmonary arterial hypertension: results of a multicenter European analysis of pulmonary …
E Grünig, S Weissmann, N Ehlken, A Fijalkowska, C Fischer, T Fourme, ...
Circulation 119 (13), 1747-1757, 2009
2522009
Gene for susceptibility to diabetic nephropathy in type 2 diabetes maps to 18q22. 3-23
I Vardarli, LJ Baier, RL Hanson, I Akkoyun, C Fischer, P Rohmeiss, ...
Kidney international 62 (6), 2176-2183, 2002
2212002
Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: implications for imprint-switch models, genetic counseling, and prenatal diagnosis
K Buiting, B Dittrich, S Groß, C Lich, C Färber, T Buchholz, E Smith, A Reis, ...
The American Journal of Human Genetics 63 (1), 170-180, 1998
1831998
Prevention of epilepsy in infants with tuberous sclerosis complex in the EPISTOP trial
K Kotulska, DJ Kwiatkowski, P Curatolo, B Weschke, K Riney, F Jansen, ...
Annals of neurology 89 (2), 304-314, 2021
1782021
A leucine repeat in the carnosinase gene CNDP1 is associated with diabetic end-stage renal disease in European Americans
BI Freedman, PJ Hicks, MM Sale, ED Pierson, CD Langefeld, SS Rich, ...
Nephrology Dialysis Transplantation 22 (4), 1131-1135, 2007
1502007
Multicentric validation of proteomic biomarkers in urine specific for diabetic nephropathy
A Alkhalaf, P Zürbig, SJL Bakker, HJG Bilo, M Cerna, C Fischer, S Fuchs, ...
PloS one 5 (10), e13421, 2010
1472010
Postural and motor asymmetries in newlyborns.
B Hopkins, W Lems, B Janssen, G Butterworth
Human Neurobiology 6 (3), 153-156, 1987
1221987
Translocation of BCR to chromosome 9: A new cytogenetic variant detected by FISH in two Ph‐negative, BCR‐positive patients with chronic myeloid leukemia
A Hagemeijer, A Buijs, E Smit, B Janssen, GJ Creemers, DVD Plas, ...
Genes, Chromosomes and Cancer 8 (4), 237-245, 1993
1131993
Linkage of hereditary haemorrhagic telangiectasia to chromosome 9q34 and evidence for locus heterogeneity.
P Heutink, T Haitjema, GJ Breedveld, B Janssen, LA Sandkuijl, ...
Journal of medical genetics 31 (12), 933-936, 1994
1111994
Genetic association of the serotonin transporter in pulmonary arterial hypertension
RD Machado, R Koehler, E Glissmeyer, C Veal, J Suntharalingam, M Kim, ...
American journal of respiratory and critical care medicine 173 (7), 793-797, 2006
1012006
Low frequency of BMPR2 mutations in a German cohort of patients with sporadic idiopathic pulmonary arterial hypertension
R Koehler, E Grünig, MW Pauciulo, MM Hoeper, H Olschewski, H Wilkens, ...
Journal of medical genetics 41 (12), e127-e127, 2004
932004
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