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

Year Number of Results
1963 1
1964 1
1966 1
1967 2
1969 4
1970 1
1972 1
1973 2
1974 3
1975 6
1976 5
1977 3
1978 6
1979 1
1980 7
1981 2
1982 1
1984 1
1985 3
1986 3
1987 2
1988 2
1989 1
1990 4
1991 5
1992 6
1994 1
1995 1
1996 3
1997 2
1998 1
1999 1
2000 4
2001 5
2003 3
2004 3
2005 2
2006 2
2007 5
2008 4
2009 5
2010 5
2011 6
2012 8
2013 9
2014 7
2015 1
2016 4
2017 5
2018 4
2021 1
2022 2
2023 3
2024 2
2025 0

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163 results

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Page 1
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.
Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature.
Rice GI, Kasher PR, Forte GM, Mannion NM, Greenwood SM, Szynkiewicz M, Dickerson JE, Bhaskar SS, Zampini M, Briggs TA, Jenkinson EM, Bacino CA, Battini R, Bertini E, Brogan PA, Brueton LA, Carpanelli M, De Laet C, de Lonlay P, del Toro M, Desguerre I, Fazzi E, Garcia-Cazorla A, Heiberg A, Kawaguchi M, Kumar R, Lin JP, Lourenco CM, Male AM, Marques W Jr, Mignot C, Olivieri I, Orcesi S, Prabhakar P, Rasmussen M, Robinson RA, Rozenberg F, Schmidt JL, Steindl K, Tan TY, van der Merwe WG, Vanderver A, Vassallo G, Wakeling EL, Wassmer E, Whittaker E, Livingston JH, Lebon P, Suzuki T, McLaughlin PJ, Keegan LP, O'Connell MA, Lovell SC, Crow YJ. Rice GI, et al. Among authors: heiberg a. Nat Genet. 2012 Nov;44(11):1243-8. doi: 10.1038/ng.2414. Epub 2012 Sep 23. Nat Genet. 2012. PMID: 23001123 Free PMC article.
Myotonic dystrophy type 1 - a multiorgan disorder.
Ørstavik K, Solbakken G, Rasmussen M, Sanaker PS, Fossmo HL, Bryne E, Knutsen-Øy T, Elgsås T, Heiberg A. Ørstavik K, et al. Among authors: heiberg a. Tidsskr Nor Laegeforen. 2024 Apr 16;144(5). doi: 10.4045/tidsskr.23.0687. Print 2024 Apr 23. Tidsskr Nor Laegeforen. 2024. PMID: 38651711 Free article. Review. English, Norwegian.
Clinical and molecular phenotype of Aicardi-Goutieres syndrome.
Rice G, Patrick T, Parmar R, Taylor CF, Aeby A, Aicardi J, Artuch R, Montalto SA, Bacino CA, Barroso B, Baxter P, Benko WS, Bergmann C, Bertini E, Biancheri R, Blair EM, Blau N, Bonthron DT, Briggs T, Brueton LA, Brunner HG, Burke CJ, Carr IM, Carvalho DR, Chandler KE, Christen HJ, Corry PC, Cowan FM, Cox H, D'Arrigo S, Dean J, De Laet C, De Praeter C, Dery C, Ferrie CD, Flintoff K, Frints SG, Garcia-Cazorla A, Gener B, Goizet C, Goutieres F, Green AJ, Guet A, Hamel BC, Hayward BE, Heiberg A, Hennekam RC, Husson M, Jackson AP, Jayatunga R, Jiang YH, Kant SG, Kao A, King MD, Kingston HM, Klepper J, van der Knaap MS, Kornberg AJ, Kotzot D, Kratzer W, Lacombe D, Lagae L, Landrieu PG, Lanzi G, Leitch A, Lim MJ, Livingston JH, Lourenco CM, Lyall EG, Lynch SA, Lyons MJ, Marom D, McClure JP, McWilliam R, Melancon SB, Mewasingh LD, Moutard ML, Nischal KK, Ostergaard JR, Prendiville J, Rasmussen M, Rogers RC, Roland D, Rosser EM, Rostasy K, Roubertie A, Sanchis A, Schiffmann R, Scholl-Burgi S, Seal S, Shalev SA, Corcoles CS, Sinha GP, Soler D, Spiegel R, Stephenson JB, Tacke U, Tan TY, Till M, Tolmie JL, Tomlin P, Vagnarelli F, Valente EM, Van Coster RN, Van der Aa N, Vanderver A, V… See abstract for full author list ➔ Rice G, et al. Among authors: heiberg a. Am J Hum Genet. 2007 Oct;81(4):713-25. doi: 10.1086/521373. Epub 2007 Sep 4. Am J Hum Genet. 2007. PMID: 17846997 Free PMC article.
Søskenbarn bør kunne gifte seg.
Chaudhry FA, Sajjad TA, Heiberg A. Chaudhry FA, et al. Among authors: heiberg a. Tidsskr Nor Laegeforen. 2023 Nov 16;143(18). doi: 10.4045/tidsskr.23.0733. Print 2023 Dec 12. Tidsskr Nor Laegeforen. 2023. PMID: 38088291 Free article. Norwegian. No abstract available.
Rettelse: Dystrofia myotonika type 1 – en multiorgansykdom.
Ørstavik K, Solbakken G, Rasmussen M, Sanaker PS, Fossmo HL, Bryne E, Knutsen-Øy T, Elgsås T, Heiberg A. Ørstavik K, et al. Among authors: heiberg a. Tidsskr Nor Laegeforen. 2024 Apr 25;144. doi: 10.4045/tidsskr.24.0236. Print 2024 Apr 26. Tidsskr Nor Laegeforen. 2024. PMID: 38738573 Free article. Norwegian. No abstract available.
Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders.
Novarino G, Fenstermaker AG, Zaki MS, Hofree M, Silhavy JL, Heiberg AD, Abdellateef M, Rosti B, Scott E, Mansour L, Masri A, Kayserili H, Al-Aama JY, Abdel-Salam GMH, Karminejad A, Kara M, Kara B, Bozorgmehri B, Ben-Omran T, Mojahedi F, El Din Mahmoud IG, Bouslam N, Bouhouche A, Benomar A, Hanein S, Raymond L, Forlani S, Mascaro M, Selim L, Shehata N, Al-Allawi N, Bindu PS, Azam M, Gunel M, Caglayan A, Bilguvar K, Tolun A, Issa MY, Schroth J, Spencer EG, Rosti RO, Akizu N, Vaux KK, Johansen A, Koh AA, Megahed H, Durr A, Brice A, Stevanin G, Gabriel SB, Ideker T, Gleeson JG. Novarino G, et al. Among authors: heiberg ad. Science. 2014 Jan 31;343(6170):506-511. doi: 10.1126/science.1247363. Science. 2014. PMID: 24482476 Free PMC article.
Recommendations for the predictive genetic test in Huntington's disease.
MacLeod R, Tibben A, Frontali M, Evers-Kiebooms G, Jones A, Martinez-Descales A, Roos RA; Editorial Committee and Working Group ‘Genetic Testing Counselling’ of the European Huntington Disease Network. MacLeod R, et al. Clin Genet. 2013 Mar;83(3):221-31. doi: 10.1111/j.1399-0004.2012.01900.x. Epub 2012 Jul 30. Clin Genet. 2013. PMID: 22642570 No abstract available.
[A. Heiberg and colleagues reply].
Heiberg A, Frich J, Røttingen JA. Heiberg A, et al. Tidsskr Nor Laegeforen. 2014 Apr 29;134(8):809-10. doi: 10.4045/tidsskr.14.0451. eCollection 2014 Apr 29. Tidsskr Nor Laegeforen. 2014. PMID: 24780961 Free article. Norwegian. No abstract available.
163 results