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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1986 2
1988 1
1989 1
1990 3
1991 1
1992 2
1993 2
1994 6
1995 8
1996 4
1997 2
1998 3
1999 1
2000 2
2001 5
2002 3
2003 1
2004 3
2005 2
2006 1
2007 4
2008 6
2009 5
2010 8
2011 9
2012 9
2013 6
2014 6
2015 11
2016 9
2017 6
2018 3
2019 2
2020 1
2021 1
2022 3
2023 2
2024 0

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124 results

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Page 1
The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature.
Meuwissen ME, Halley DJ, Smit LS, Lequin MH, Cobben JM, de Coo R, van Harssel J, Sallevelt S, Woldringh G, van der Knaap MS, de Vries LS, Mancini GM. Meuwissen ME, et al. Among authors: cobben jm. Genet Med. 2015 Nov;17(11):843-53. doi: 10.1038/gim.2014.210. Epub 2015 Feb 26. Genet Med. 2015. PMID: 25719457 Free article. Review.
Pectus excavatum and carinatum.
Cobben JM, Oostra RJ, van Dijk FS. Cobben JM, et al. Eur J Med Genet. 2014 Aug;57(8):414-7. doi: 10.1016/j.ejmg.2014.04.017. Epub 2014 May 10. Eur J Med Genet. 2014. PMID: 24821303 Review.
SHORT syndrome with microcephaly and developmental delay.
Patel V, Cui W, Cobben JM. Patel V, et al. Among authors: cobben jm. Am J Med Genet A. 2023 Mar;191(3):850-854. doi: 10.1002/ajmg.a.63078. Epub 2022 Dec 14. Am J Med Genet A. 2023. PMID: 36515361 Review.
Classification of Osteogenesis Imperfecta revisited.
Van Dijk FS, Pals G, Van Rijn RR, Nikkels PG, Cobben JM. Van Dijk FS, et al. Among authors: cobben jm. Eur J Med Genet. 2010 Jan-Feb;53(1):1-5. doi: 10.1016/j.ejmg.2009.10.007. Epub 2009 Oct 28. Eur J Med Genet. 2010. PMID: 19878741 Review.
Compound-heterozygous Marfan syndrome.
Van Dijk FS, Hamel BC, Hilhorst-Hofstee Y, Mulder BJ, Timmermans J, Pals G, Cobben JM. Van Dijk FS, et al. Among authors: cobben jm. Eur J Med Genet. 2009 Jan-Feb;52(1):1-5. doi: 10.1016/j.ejmg.2008.11.004. Epub 2008 Nov 27. Eur J Med Genet. 2009. PMID: 19059503
The EEC syndrome: a literature study.
Roelfsema NM, Cobben JM. Roelfsema NM, et al. Among authors: cobben jm. Clin Dysmorphol. 1996 Apr;5(2):115-27. doi: 10.1097/00019605-199604000-00003. Clin Dysmorphol. 1996. PMID: 8723561 Review.
[Osteogenesis imperfecta: clinical and genetic heterogeneity].
van Dijk FS, Cobben JM, Maugeri A, Nikkels PG, van Rijn RR, Pals G. van Dijk FS, et al. Among authors: cobben jm. Ned Tijdschr Geneeskd. 2012;156(21):A4585. Ned Tijdschr Geneeskd. 2012. PMID: 22617071 Review. Dutch.
PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature.
Reijnders MRF, Janowski R, Alvi M, Self JE, van Essen TJ, Vreeburg M, Rouhl RPW, Stevens SJC, Stegmann APA, Schieving J, Pfundt R, van Dijk K, Smeets E, Stumpel CTRM, Bok LA, Cobben JM, Engelen M, Mansour S, Whiteford M, Chandler KE, Douzgou S, Cooper NS, Tan EC, Foo R, Lai AHM, Rankin J, Green A, Lönnqvist T, Isohanni P, Williams S, Ruhoy I, Carvalho KS, Dowling JJ, Lev DL, Sterbova K, Lassuthova P, Neupauerová J, Waugh JL, Keros S, Clayton-Smith J, Smithson SF, Brunner HG, van Hoeckel C, Anderson M, Clowes VE, Siu VM, Ddd Study T, Selber P, Leventer RJ, Nellaker C, Niessing D, Hunt D, Baralle D. Reijnders MRF, et al. Among authors: cobben jm. J Med Genet. 2018 Feb;55(2):104-113. doi: 10.1136/jmedgenet-2017-104946. Epub 2017 Nov 2. J Med Genet. 2018. PMID: 29097605 Free PMC article. Review.
Mutations in the human UBR1 gene and the associated phenotypic spectrum.
Sukalo M, Fiedler A, Guzmán C, Spranger S, Addor MC, McHeik JN, Oltra Benavent M, Cobben JM, Gillis LA, Shealy AG, Deshpande C, Bozorgmehr B, Everman DB, Stattin EL, Liebelt J, Keller KM, Bertola DR, van Karnebeek CD, Bergmann C, Liu Z, Düker G, Rezaei N, Alkuraya FS, Oğur G, Alrajoudi A, Venegas-Vega CA, Verbeek NE, Richmond EJ, Kirbiyik O, Ranganath P, Singh A, Godbole K, Ali FA, Alves C, Mayerle J, Lerch MM, Witt H, Zenker M. Sukalo M, et al. Among authors: cobben jm. Hum Mutat. 2014 May;35(5):521-31. doi: 10.1002/humu.22538. Epub 2014 Apr 9. Hum Mutat. 2014. PMID: 24599544 Review.
Genotype-phenotype correlation at codon 1740 of SETD2.
Rabin R, Radmanesh A, Glass IA, Dobyns WB, Aldinger KA, Shieh JT, Romoser S, Bombei H, Dowsett L, Trapane P, Bernat JA, Baker J, Mendelsohn NJ, Popp B, Siekmeyer M, Sorge I, Sansbury FH, Watts P, Foulds NC, Burton J, Hoganson G, Hurst JA, Menzies L, Osio D, Kerecuk L, Cobben JM, Jizi K, Jacquemont S, Bélanger SA, Löhner K, Veenstra-Knol HE, Lemmink HH, Keller-Ramey J, Wentzensen IM, Punj S, McWalter K, Lenberg J, Ellsworth KA, Radtke K, Akbarian S, Pappas J. Rabin R, et al. Among authors: cobben jm. Am J Med Genet A. 2020 Sep;182(9):2037-2048. doi: 10.1002/ajmg.a.61724. Epub 2020 Jul 24. Am J Med Genet A. 2020. PMID: 32710489
124 results