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5Jeannette Gootjes
![]() Summary for 2004 [at-glance overview of Jeannette Gootjes work for the selected year as suggested by data mining algorithms]This is an Authoratory overview of author Jeannette Gootjes. According to available data, in 2004 Jeannette Gootjes published at least 5 articles. This work was completed in collaboration with several authors including Wanders, Ronald J A and Waterham, Hans R. Many other authors have collaborated with Jeannette Gootjes as well. There is no information about the funding or the grants awarded to support this work.
Jeannette Gootjes is a key opinion leader in the specific area of Peroxisomal Disorders. This author's rank is 3 when compared to all other authors using the same keyword. Analysis of the article abstracts and the titles suggests that Jeannette Gootjes professional interests are focused around "peroxisome biogenesis disorders", "patients peroxisome biogenesis" and "peroxisome biogenesis disorder". These might also be referred to as "peroxisome biogenesis", "zinc-binding domain" or "biogenesis disorders". Statistical analysis shows that Jeannette Gootjes's writing is likely to contains terms "patients", "peroxisome", "biogenesis", "mutations", "protein" and "disorders".
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Alternative names (0) [other authors with names similar to Jeannette Gootjes]Year 2004 Charts [Jeannette Gootjes frequent coauthors and the most common unique vocabulary terms for the selected year]Historical Performance Charts [graphical overview of Jeannette Gootjes publication and funding history for the range of years]Emails (1) [email addresses extracted from Jeannette Gootjes affiliations]hidden to prevent spam, click here to reveal Jeannette Gootjes Coauthors (16) [all coauthors with the number of joint publications] Other [context-specific ads]Affiliations (4) [condensed summary of the Jeannette Gootjes affiliations, the leading number and the color conveys importance]- 2Department of Clinical Chemistry, Academic Medical Center, University of Amsterdam, The Netherlands.
1Institute of Child Health, Athens, Greece. 1Department of Pediatrics, Emma Children's Hospital, Amsterdam, The Netherlands. 1Lab. Genetic Metabolic Diseases (F0-224), Department of Clinical Chemistry and Peadiatrics, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
Key Opinion Leader In [Jeannette Gootjes is considered a key opinion leader in any keyword where the rank of 5 is achieved, the leading number before the keyword shows the author's rank as compared to all other authors]- 3Peroxisomal Disorders | 13Genetic Complementation Test | 130Membrane Proteins
Keywords (32) [keywords assigned to Jeannette Gootjes articles by PubMed, the leading number and the color conveys importance]- 5Humans | 5Membrane Proteins | 4Peroxisomal Disorders | 3Genetic Complementation Test | 3Mutation | 2Base Sequence | 2DNA Primers | 2Child, Preschool | 2Female | 2Phenotype | 1Consanguinity | 1Skin | 1Adolescent | 1Developmental Disabilities | 1Follow-Up Studies | 1Survival Rate | 1DNA Mutational Analysis | 1Reverse Transcriptase Polymerase Chain Reaction | 1Cells, Cultured | 1Magnetic Resonance Imaging | 1Chromosomes, Human, Pair 17 | 1Time Factors | 1Seizures | 1Cold Temperature | 1Face | 1Fluorescent Antibody Technique | 1Eye Diseases | 1Cohort Studies | 1Cell Fusion | 1Infant | 1Cell Culture Techniques | 1Adult
Jeannette Gootjes Unique Vocabulary (96) [single words, word pairs and phrases obtained by analysis of abstracts and titles, the leading number and the color conveys importance; Jeannette Gootjes might be a good expert witness on these terms]- 21patients | 12peroxisome | 12biogenesis | 12mutations | 10protein | 10disorders | 8domain | 8group | 8pex12 | 7zinc-binding | 7gene | 7patient | 6genes | 6disease | 6phenotype | 6peroxisomal | 6pex2 | 6novel | 6g843d | 5disorder | 5mutation | 4pbds | 4complementation | 4belonging | 4pbd | 4due | 4peroxin | 3different | 3report | 3ird | 3lacking | 3milder
- 12peroxisome biogenesis | 7zinc-binding domain | 6biogenesis disorders | 5patients peroxisome | 5biogenesis disorder | 4pbd patients | 4patients belonging | 4pex12 gene | 4novel mutations | 4group disorders | 3complementation group | 3mutations pex12 | 3peroxin protein | 3pex2 gene | 3mutations pex2 | 3domains zinc-binding | 3protein import | 3transmembrane domains | 2gene patients | 2peroxisomal protein | 2clinically heterogeneous | 2phenotype patients | 2codes protein | 2neonatal adrenoleukodystrophy | 2protein deficiency | 2disorders due | 2delay retinopathy | 2prototype group | 2perceptive deafness | 2severe phenotypes | 2disorder peroxisome | 2ird milder
- 6peroxisome biogenesis disorders | 5patients peroxisome biogenesis | 5peroxisome biogenesis disorder | 4pbd patients belonging | 3mutations pex12 gene | 3transmembrane domains zinc-binding | 3mutations pex2 gene | 3domains zinc-binding domain | 2proteins peroxisomal protein | 2due defects distinct | 2identification pbd patients | 2form genetically clinically | 2pbds form genetically | 2interaction proteins peroxisomal | 2different mutations reported | 2novel mutations pex2 | 2defects distinct genes | 2neonatal adrenoleukodystrophy nald | 2report identification pbd | 2heterogeneous group disorders | 2unrelated patients peroxisome | 2disorders due defects | 2patients belonging complementation | 2infantile refsum disease | 2syndrome zs neonatal | 2zellweger syndrome zs | 2genes revealed different | 2ird milder variants | 2zs neonatal adrenoleukodystrophy | 2pex12 gene patients | 2zinc-binding domain considered | 2revealed different mutations
Reader's Comments (0) [comments posted by readers of Jeannette Gootjes profile]Funding (0) [selected NIH grants to Jeannette Gootjes and the award amounts for recent years]- award information is not available
Jeannette Gootjes Articles (5) [selected PubMed articles for the year 2004 with the links to a full text at PubMed]Identification of the molecular defect in patients with peroxisomal mosaicism using a novel method involving culturing of cells at 40 degrees C: implications for other inborn errors of metabolism. (2004) >> Department of Clinical Chemistry, Academic Medical Center, University of Amsterdam, The Netherlands. 1Von Schütz, M, 28Wanders, Ronald J A, 5Gootjes, Jeannette, 1Huemer, Martina, 1Smeitink, Jan A, 1Dekker, Conny, 5Mandel, Hanna, 11Topçu, Meral, 1Mooijer, Petra A W, 2Schmohl, Frank, 11Waterham, Hans R, 7Marquardt, Thorsten.PEX1 deficiency presenting as Leber congenital amaurosis. (2004) >> Institute of Child Health, Athens, Greece. 28Wanders, Ronald J A, 5Gootjes, Jeannette, 1Moraitou, Marina S, 8Zafeiriou, Dimitrios I, 1Michelakakis, Helen M.Peroxisome biogenesis disorders with prolonged survival: phenotypic expression in a cohort of 31 patients. (2004) >> Department of Pediatrics, Emma Children's Hospital, Amsterdam, The Netherlands. 1de Klerk, Johannis B C, 9Duran, Marinus, 28Wanders, Ronald J A, 1Wenniger-Prick, Liesbeth J Maillette de Buy, 5Gootjes, Jeannette, 5Barth, Peter G, 1Admiraal, Ronald J C, 4Poll-The, Bwee Tien, 11Waterham, Hans R.Novel mutations in the PEX2 gene of four unrelated patients with a peroxisome biogenesis disorder. (2004) >> Lab. Genetic Metabolic Diseases (F0-224), Department of Clinical Chemistry and Peadiatrics, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands. 1Shimozawa, Noboyuki, 28Wanders, Ronald J A, 1Mitanchez, Delphine, 28Suzuki, Yasuyuki, 5Gootjes, Jeannette, 1Eyskens, François, 3Elpeleg, Orly, 5Mandel, Hanna, 11Waterham, Hans R.Novel mutations in the PEX12 gene of patients with a peroxisome biogenesis disorder. (2004) >> Department of Clinical Chemistry, Academic Medical Center, University of Amsterdam, The Netherlands. 28Wanders, Ronald J A, 5Gootjes, Jeannette, 2Schmohl, Frank, 11Waterham, Hans R.
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