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Page 1
Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.
Koczkowska M, Callens T, Gomes A, Sharp A, Chen Y, Hicks AD, Aylsworth AS, Azizi AA, Basel DG, Bellus G, Bird LM, Blazo MA, Burke LW, Cannon A, Collins F, DeFilippo C, Denayer E, Digilio MC, Dills SK, Dosa L, Greenwood RS, Griffis C, Gupta P, Hachen RK, Hernández-Chico C, Janssens S, Jones KJ, Jordan JT, Kannu P, Korf BR, Lewis AM, Listernick RH, Lonardo F, Mahoney MJ, Ojeda MM, McDonald MT, McDougall C, Mendelsohn N, Miller DT, Mori M, Oostenbrink R, Perreault S, Pierpont ME, Piscopo C, Pond DA, Randolph LM, Rauen KA, Rednam S, Rutledge SL, Saletti V, Schaefer GB, Schorry EK, Scott DA, Shugar A, Siqveland E, Starr LJ, Syed A, Trapane PL, Ullrich NJ, Wakefield EG, Walsh LE, Wangler MF, Zackai E, Claes KBM, Wimmer K, van Minkelen R, De Luca A, Martin Y, Legius E, Messiaen LM. Koczkowska M, et al. Among authors: oostenbrink r. Genet Med. 2019 Apr;21(4):867-876. doi: 10.1038/s41436-018-0269-0. Epub 2018 Sep 7. Genet Med. 2019. PMID: 30190611 Free PMC article.
Optimizing expert and patient input in pediatric trial design: Lessons learned and recommendations from a collaboration between conect4children and European Patient-CEntric ClinicAl TRial PLatforms.
Dhaenens BAE, Mahler F, Batchelor H, Dicks P, Gaillard S, Nafria B, Kopp-Schneider A, Ribeiro MA, Schwab M, Sparber-Sauer M, Leubner J, de Wildt SN, Oostenbrink R. Dhaenens BAE, et al. Among authors: oostenbrink r. Clin Transl Sci. 2023 Aug;16(8):1458-1468. doi: 10.1111/cts.13547. Epub 2023 Jun 30. Clin Transl Sci. 2023. PMID: 37391924 Free PMC article.
Respective roles of non-pharmaceutical interventions in bronchiolitis outbreaks: an interrupted time-series analysis based on a multinational surveillance system.
Lenglart L, Ouldali N, Honeyford K, Bognar Z, Bressan S, Buonsenso D, Da Dalt L, De T, Farrugia R, Maconochie IK, Moll HA, Oostenbrink R, Parri N, Roland D, Rose K, Akyüz Özkan E, Angoulvant F, Aupiais C, Barber C, Barrett M, Basmaci R, Castanhinha S, Chiaretti A, Durnin S, Fitzpatrick P, Fodor L, Gomez B, Greber-Platzer S, Guedj R, Hey F, Jankauskaite L, Kohlfuerst D, Mascarenhas I, Musolino AM, Pučuka Z, Reis S, Rybak A, Salamon P, Schaffert M, Shahar-Nissan K, Supino MC, Teksam O, Turan C, Velasco R, Nijman RG, Titomanlio L; EPISODES Study Group. Lenglart L, et al. Among authors: oostenbrink r. Eur Respir J. 2023 Feb 16;61(2):2201172. doi: 10.1183/13993003.01172-2022. Print 2023 Feb. Eur Respir J. 2023. PMID: 36356971 Free article.
Availability and use of rapid diagnostic tests for the management of acute childhood infections in Europe: A cross-sectional survey of paediatricians.
Dewez JE, Pembrey L, Nijman RG, Del Torso S, Grossman Z, Hadjipanayis A, Van Esso D, Lim E, Emonts M, Burns J, Gras-LeGuen C, Kohlfuerst D, Dornbusch HJ, Brengel-Pesce K, Mallet F, von Both U, Tsolia M, Eleftheriou I, Zavadska D, de Groot R, van der Flier M, Moll H, Hagedoorn N, Borensztajn D, Oostenbrink R, Kuijpers T, Pokorn M, Vincek K, Martinón-Torres F, Rivero I, Agyeman P, Carrol ED, Paulus S, Cunnington A, Herberg J, Levin M, Mujkić A, Geitmann K, Da Dalt L, Valiulis A, Lapatto R, Syridou G, Altorjai P, Torpiano P, Størdal K, Illy K, Mazur A, Spreitzer MV, Rios J, Wyder C, Romankevych I, Basmaci R, Ibanez-Mico S, Yeung S. Dewez JE, et al. Among authors: oostenbrink r. PLoS One. 2022 Dec 20;17(12):e0275336. doi: 10.1371/journal.pone.0275336. eCollection 2022. PLoS One. 2022. PMID: 36538525 Free PMC article.
Severe Pediatric COVID-19 and Multisystem Inflammatory Syndrome in Children From Wild-type to Population Immunity: A Prospective Multicenter Cohort Study With Real-time Reporting.
Tulling AJ, Lugthart G, Mooij MG, Brackel CLH, Terheggen-Lagro SWJ, Oostenbrink R, Buysse CMP, Hashimoto S, Armbrust W, Bannier MAGE, Bekhof J, van Gameren-Oosterom HB, Hendriks H, van Houten MA, van der Linden JW, Lebon A, van Onzenoort-Bokken L, Tramper-Stranders GA, van Veen M, von Asmuth EGJ, Buddingh EP; COPP-study group. Tulling AJ, et al. Among authors: oostenbrink r. Pediatr Infect Dis J. 2023 Dec 1;42(12):1077-1085. doi: 10.1097/INF.0000000000004098. Epub 2023 Oct 12. Pediatr Infect Dis J. 2023. PMID: 37823702 Free PMC article.
Legius syndrome in fourteen families.
Denayer E, Chmara M, Brems H, Kievit AM, van Bever Y, Van den Ouweland AM, Van Minkelen R, de Goede-Bolder A, Oostenbrink R, Lakeman P, Beert E, Ishizaki T, Mori T, Keymolen K, Van den Ende J, Mangold E, Peltonen S, Brice G, Rankin J, Van Spaendonck-Zwarts KY, Yoshimura A, Legius E. Denayer E, et al. Among authors: oostenbrink r. Hum Mutat. 2011 Jan;32(1):E1985-98. doi: 10.1002/humu.21404. Hum Mutat. 2011. PMID: 21089071 Free PMC article.
Emotional and behavioral problems in children and adolescents with neurofibromatosis type 1.
Rietman AB, van der Vaart T, Plasschaert E, Nicholson BA, Oostenbrink R, Krab LC, Descheemaeker MJ, Wit MY, Moll HA, Legius E, Nijs PFA. Rietman AB, et al. Among authors: oostenbrink r. Am J Med Genet B Neuropsychiatr Genet. 2018 Apr;177(3):319-328. doi: 10.1002/ajmg.b.32612. Epub 2017 Dec 15. Am J Med Genet B Neuropsychiatr Genet. 2018. PMID: 29243874
Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.
Koczkowska M, Callens T, Gomes A, Sharp A, Chen Y, Hicks AD, Aylsworth AS, Azizi AA, Basel DG, Bellus G, Bird LM, Blazo MA, Burke LW, Cannon A, Collins F, DeFilippo C, Denayer E, Digilio MC, Dills SK, Dosa L, Greenwood RS, Griffis C, Gupta P, Hachen RK, Hernández-Chico C, Janssens S, Jones KJ, Jordan JT, Kannu P, Korf BR, Lewis AM, Listernick RH, Lonardo F, Mahoney MJ, Ojeda MM, McDonald MT, McDougall C, Mendelsohn N, Miller DT, Mori M, Oostenbrink R, Perreault S, Pierpont ME, Piscopo C, Pond DA, Randolph LM, Rauen KA, Rednam S, Rutledge SL, Saletti V, Schaefer GB, Schorry EK, Scott DA, Shugar A, Siqveland E, Starr LJ, Syed A, Trapane PL, Ullrich NJ, Wakefield EG, Walsh LE, Wangler MF, Zackai E, Claes KBM, Wimmer K, van Minkelen R, De Luca A, Martin Y, Legius E, Messiaen LM. Koczkowska M, et al. Among authors: oostenbrink r. Genet Med. 2019 Mar;21(3):764-765. doi: 10.1038/s41436-018-0326-8. Genet Med. 2019. PMID: 30275510 Free PMC article.
Examination of the genetic factors underlying the cognitive variability associated with neurofibromatosis type 1.
Ottenhoff MJ, Rietman AB, Mous SE, Plasschaert E, Gawehns D, Brems H, Oostenbrink R; ENCORE-NF1 Team; van Minkelen R, Nellist M, Schorry E, Legius E, Moll HA, Elgersma Y. Ottenhoff MJ, et al. Among authors: oostenbrink r. Genet Med. 2020 May;22(5):889-897. doi: 10.1038/s41436-020-0752-2. Epub 2020 Feb 4. Genet Med. 2020. PMID: 32015538 Free PMC article.
Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation.
Legius E, Messiaen L, Wolkenstein P, Pancza P, Avery RA, Berman Y, Blakeley J, Babovic-Vuksanovic D, Cunha KS, Ferner R, Fisher MJ, Friedman JM, Gutmann DH, Kehrer-Sawatzki H, Korf BR, Mautner VF, Peltonen S, Rauen KA, Riccardi V, Schorry E, Stemmer-Rachamimov A, Stevenson DA, Tadini G, Ullrich NJ, Viskochil D, Wimmer K, Yohay K; International Consensus Group on Neurofibromatosis Diagnostic Criteria (I-NF-DC); Huson SM, Evans DG, Plotkin SR. Legius E, et al. Genet Med. 2021 Aug;23(8):1506-1513. doi: 10.1038/s41436-021-01170-5. Epub 2021 May 19. Genet Med. 2021. PMID: 34012067 Free PMC article.
146 results