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Items: 1 to 20 of 59

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1.

Effect of induced chronic atrial fibrillation on exercise performance in Standardbred trotters.

Buhl R, Carstensen H, Hesselkilde EZ, Klein BZ, Hougaard KM, Ravn KB, Loft-Andersen AV, Fenner MF, Pipper C, Jespersen T.

J Vet Intern Med. 2018 May 10. doi: 10.1111/jvim.15137. [Epub ahead of print]

2.

The D313Y variant in the GLA gene - no evidence of a pathogenic role in Fabry disease.

Hasholt L, Ballegaard M, Bundgaard H, Christiansen M, Law I, Lund AM, Norremolle A, Krogh Rasmussen A, Ravn K, Tumer Z, Wibrand F, Feldt-Rasmussen U.

Scand J Clin Lab Invest. 2017 Dec;77(8):617-621. doi: 10.1080/00365513.2017.1390782. Epub 2017 Oct 16.

PMID:
29037082
3.

On the road to replacing invasive testing with cell-based NIPT: Five clinical cases with aneuploidies, microduplication, unbalanced structural rearrangement, or mosaicism.

Vestergaard EM, Singh R, Schelde P, Hatt L, Ravn K, Christensen R, Lildballe DL, Petersen OB, Uldbjerg N, Vogel I.

Prenat Diagn. 2017 Nov;37(11):1120-1124. doi: 10.1002/pd.5150. Epub 2017 Oct 10.

PMID:
28881392
4.

Fetal cells in maternal blood for prenatal diagnosis: a love story rekindled.

Singh R, Hatt L, Ravn K, Vogel I, Petersen OB, Uldbjerg N, Schelde P.

Biomark Med. 2017 Jun 15. doi: 10.2217/bmm-2017-0055. [Epub ahead of print] No abstract available.

5.

Leukoencephalopathy due to Complex II Deficiency and Bi-Allelic SDHB Mutations: Further Cases and Implications for Genetic Counselling.

Grønborg S, Darin N, Miranda MJ, Damgaard B, Cayuela JA, Oldfors A, Kollberg G, Hansen TVO, Ravn K, Wibrand F, Østergaard E.

JIMD Rep. 2017;33:69-77. doi: 10.1007/8904_2016_582. Epub 2016 Sep 8.

6.

The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease.

Ng YS, Alston CL, Diodato D, Morris AA, Ulrick N, Kmoch S, Houštěk J, Martinelli D, Haghighi A, Atiq M, Gamero MA, Garcia-Martinez E, Kratochvílová H, Santra S, Brown RM, Brown GK, Ragge N, Monavari A, Pysden K, Ravn K, Casey JP, Khan A, Chakrapani A, Vassallo G, Simons C, McKeever K, O'Sullivan S, Childs AM, Østergaard E, Vanderver A, Goldstein A, Vogt J, Taylor RW, McFarland R.

J Med Genet. 2016 Nov;53(11):768-775. doi: 10.1136/jmedgenet-2016-103910. Epub 2016 Jul 13.

7.

Neonatal mitochondrial hepatoencephalopathy caused by novel GFM1 mutations.

Ravn K, Schönewolf-Greulich B, Hansen RM, Bohr AH, Duno M, Wibrand F, Ostergaard E.

Mol Genet Metab Rep. 2015 Feb 20;3:5-10. doi: 10.1016/j.ymgmr.2015.01.004. eCollection 2015 Jun.

8.

The MECP2 variant c.925C>T (p.Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome.

Schönewolf-Greulich B, Tejada MI, Stephens K, Hadzsiev K, Gauthier J, Brøndum-Nielsen K, Pfundt R, Ravn K, Maortua H, Gener B, Martínez-Bouzas C, Piton A, Rouleau G, Clayton-Smith J, Kleefstra T, Bisgaard AM, Tümer Z.

Clin Genet. 2016 Jun;89(6):733-8. doi: 10.1111/cge.12769. Epub 2016 Apr 8.

PMID:
26936630
9.

MECP2 Duplication Syndrome: Evidence of Enhanced Oxidative Stress. A Comparison with Rett Syndrome.

Signorini C, De Felice C, Leoncini S, Møller RS, Zollo G, Buoni S, Cortelazzo A, Guerranti R, Durand T, Ciccoli L, D'Esposito M, Ravn K, Hayek J.

PLoS One. 2016 Mar 1;11(3):e0150101. doi: 10.1371/journal.pone.0150101. eCollection 2016.

10.

Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients.

Carrozzo R, Verrigni D, Rasmussen M, de Coo R, Amartino H, Bianchi M, Buhas D, Mesli S, Naess K, Born AP, Woldseth B, Prontera P, Batbayli M, Ravn K, Joensen F, Cordelli DM, Santorelli FM, Tulinius M, Darin N, Duno M, Jouvencel P, Burlina A, Stangoni G, Bertini E, Redonnet-Vernhet I, Wibrand F, Dionisi-Vici C, Uusimaa J, Vieira P, Osorio AN, McFarland R, Taylor RW, Holme E, Ostergaard E.

J Inherit Metab Dis. 2016 Mar;39(2):243-52. doi: 10.1007/s10545-015-9894-9. Epub 2015 Oct 16.

PMID:
26475597
11.

Hearing impairment and renal failure associated with RMND1 mutations.

Ravn K, Neland M, Wibrand F, Duno M, Ostergaard E.

Am J Med Genet A. 2016 Jan;170A(1):142-7. doi: 10.1002/ajmg.a.37399. Epub 2015 Sep 23.

PMID:
26395190
12.

[Clinical molecular genetics diagnostics of Rett syndrome in Denmark].

Schönewolf-Greulich B, Dunø M, Ravn K, Brøndum-Nielsen K, Bisgaard AM.

Ugeskr Laeger. 2015 Jun 29;177(27). pii: V12140731. Review. Danish.

PMID:
26239739
13.

Is it possible to diagnose Rett syndrome before classical symptoms become obvious? Review of 24 Danish cases born between 2003 and 2012.

Bisgaard AM, Schönewolf-Greulich B, Ravn K, Rønde G.

Eur J Paediatr Neurol. 2015 Nov;19(6):679-87. doi: 10.1016/j.ejpn.2015.07.004. Epub 2015 Jul 21.

PMID:
26228846
14.

Deletion of 11q12.3-11q13.1 in a patient with intellectual disability and childhood facial features resembling Cornelia de Lange syndrome.

Boyle MI, Jespersgaard C, Nazaryan L, Ravn K, Brøndum-Nielsen K, Bisgaard AM, Tümer Z.

Gene. 2015 Nov 1;572(1):130-134. doi: 10.1016/j.gene.2015.07.016. Epub 2015 Jul 8.

PMID:
26164757
15.

Exercise Intolerance and Myoglobinuria Associated with a Novel Maternally Inherited MT-ND1 Mutation.

Rafiq J, Duno M, Østergaard E, Ravn K, Vissing CR, Wibrand F, Vissing J.

JIMD Rep. 2016;25:65-70. Epub 2015 Jun 25.

16.

Brain derived neurotrophic factor (BDNF) and autism spectrum disorders (ASD) in childhood.

Bryn V, Halvorsen B, Ueland T, Isaksen J, Kolkova K, Ravn K, Skjeldal OH.

Eur J Paediatr Neurol. 2015 Jul;19(4):411-4. doi: 10.1016/j.ejpn.2015.03.005. Epub 2015 Mar 18.

PMID:
25847750
17.

Mutations in COA3 cause isolated complex IV deficiency associated with neuropathy, exercise intolerance, obesity, and short stature.

Ostergaard E, Weraarpachai W, Ravn K, Born AP, Jønson L, Duno M, Wibrand F, Shoubridge EA, Vissing J.

J Med Genet. 2015 Mar;52(3):203-7. doi: 10.1136/jmedgenet-2014-102914. Epub 2015 Jan 20.

PMID:
25604084
18.

CLPB variants associated with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic aciduria.

Saunders C, Smith L, Wibrand F, Ravn K, Bross P, Thiffault I, Christensen M, Atherton A, Farrow E, Miller N, Kingsmore SF, Ostergaard E.

Am J Hum Genet. 2015 Feb 5;96(2):258-65. doi: 10.1016/j.ajhg.2014.12.020. Epub 2015 Jan 15.

19.

Agriculture: The next frontier.

Ravn K.

Nature. 2014 Oct 30;514(7524):S64-5. No abstract available.

PMID:
25368892
20.

Career changes: Open for business.

Ravn K.

Nature. 2014 Oct 23;514(7523):523-5. No abstract available.

PMID:
25346972

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