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Items: 1 to 50 of 161

1.

The impact of consanguinity on the frequency of inborn errors of metabolism.

Afzal RM, Lund AM, Skovby F.

Dan Med J. 2018 Oct;65(10). pii: A5508.

PMID:
30269750
2.

The impact of consanguinity on the frequency of inborn errors of metabolism.

Afzal RM, Lund AM, Skovby F.

Mol Genet Metab Rep. 2018 Jan 11;15:6-10. doi: 10.1016/j.ymgmr.2017.11.004. eCollection 2018 Jun.

3.

Efficacy of Rosuvastatin in Children With Homozygous Familial Hypercholesterolemia and Association With Underlying Genetic Mutations.

Stein EA, Dann EJ, Wiegman A, Skovby F, Gaudet D, Sokal E, Charng MJ, Mohamed M, Luirink I, Raichlen JS, Sundén M, Carlsson SC, Raal FJ, Kastelein JJP.

J Am Coll Cardiol. 2017 Aug 29;70(9):1162-1170. doi: 10.1016/j.jacc.2017.06.058.

4.

[Exome sequencing for syndrome diagnostics].

Østergaard E, Risom L, Ek J, Grønborg S, Dunø M, Skovby F.

Ugeskr Laeger. 2017 Apr 24;179(17). pii: V10160762. Review. Danish.

PMID:
28473029
5.

Mutations in THAP11 cause an inborn error of cobalamin metabolism and developmental abnormalities.

Quintana AM, Yu HC, Brebner A, Pupavac M, Geiger EA, Watson A, Castro VL, Cheung W, Chen SH, Watkins D, Pastinen T, Skovby F, Appel B, Rosenblatt DS, Shaikh TH.

Hum Mol Genet. 2017 Aug 1;26(15):2838-2849. doi: 10.1093/hmg/ddx157.

6.

The Danish 22q11 research initiative.

Schmock H, Vangkilde A, Larsen KM, Fischer E, Birknow MR, Jepsen JR, Olesen C, Skovby F, Plessen KJ, Mørup M, Hulme O, Baaré WF, Didriksen M, Siebner HR, Werge T, Olsen L.

BMC Psychiatry. 2015 Sep 17;15:220. doi: 10.1186/s12888-015-0594-7.

7.

Clinical presentations of 23 half-siblings from a mosaic neurofibromatosis type 1 sperm donor.

Ejerskov C, Farholt S, Skovby F, Vestergaard EM, Haagerup A.

Clin Genet. 2016 Mar;89(3):346-50. doi: 10.1111/cge.12600. Epub 2015 May 15.

PMID:
25872886
8.

DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome.

White J, Mazzeu JF, Hoischen A, Jhangiani SN, Gambin T, Alcino MC, Penney S, Saraiva JM, Hove H, Skovby F, Kayserili H, Estrella E, Vulto-van Silfhout AT, Steehouwer M, Muzny DM, Sutton VR, Gibbs RA; Baylor-Hopkins Center for Mendelian Genomics, Lupski JR, Brunner HG, van Bon BW, Carvalho CM.

Am J Hum Genet. 2015 Apr 2;96(4):612-22. doi: 10.1016/j.ajhg.2015.02.015. Epub 2015 Mar 26.

9.

[The genome and cardiology].

Bundgaard H, Diness BR, Tfelt-Hansen J, Henriksen FL, Eschen O, Skovby F, Havndrup O, Jensen HK, Tybjærg-Hansen A.

Ugeskr Laeger. 2014 Nov 10;176(46). pii: V06140376. Review. Danish.

PMID:
25394933
10.

Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia.

Baumgartner MR, Hörster F, Dionisi-Vici C, Haliloglu G, Karall D, Chapman KA, Huemer M, Hochuli M, Assoun M, Ballhausen D, Burlina A, Fowler B, Grünert SC, Grünewald S, Honzik T, Merinero B, Pérez-Cerdá C, Scholl-Bürgi S, Skovby F, Wijburg F, MacDonald A, Martinelli D, Sass JO, Valayannopoulos V, Chakrapani A.

Orphanet J Rare Dis. 2014 Sep 2;9:130. doi: 10.1186/s13023-014-0130-8. Review.

11.

Copper deficiency in patients with cystinosis with cysteamine toxicity.

Besouw MT, Schneider J, Janssen MC, Greco M, Emma F, Cornelissen EA, Desmet K, Skovby F, Nobili F, Lilien MR, De Paepe A, Malfait F, Symoens S, van den Heuvel LP, Levtchenko EN.

J Pediatr. 2013 Sep;163(3):754-60. doi: 10.1016/j.jpeds.2013.03.078. Epub 2013 May 4.

PMID:
23651769
12.

Enhanced maternal origin of the 22q11.2 deletion in velocardiofacial and DiGeorge syndromes.

Delio M, Guo T, McDonald-McGinn DM, Zackai E, Herman S, Kaminetzky M, Higgins AM, Coleman K, Chow C, Jalbrzikowski M, Bearden CE, Bailey A, Vangkilde A, Olsen L, Olesen C, Skovby F, Werge TM, Templin L, Busa T, Philip N, Swillen A, Vermeesch JR, Devriendt K, Schneider M, Dahoun S, Eliez S, Schoch K, Hooper SR, Shashi V, Samanich J, Marion R, van Amelsvoort T, Boot E, Klaassen P, Duijff SN, Vorstman J, Yuen T, Silversides C, Chow E, Bassett A, Frisch A, Weizman A, Gothelf D, Niarchou M, van den Bree M, Owen MJ, Suñer DH, Andreo JR, Armando M, Vicari S, Digilio MC, Auton A, Kates WR, Wang T, Shprintzen RJ, Emanuel BS, Morrow BE.

Am J Hum Genet. 2013 Mar 7;92(3):439-47. doi: 10.1016/j.ajhg.2013.01.018. Epub 2013 Feb 28. Erratum in: Am J Hum Genet. 2013 Apr 4;92(4):637. Jarlbrzkowski, Maria [corrected to Jalbrzikowski, Maria].

13.

Penetrance of hypertrophic cardiomyopathy in children and adolescents: a 12-year follow-up study of clinical screening and predictive genetic testing.

Jensen MK, Havndrup O, Christiansen M, Andersen PS, Diness B, Axelsson A, Skovby F, Køber L, Bundgaard H.

Circulation. 2013 Jan 1;127(1):48-54. doi: 10.1161/CIRCULATIONAHA.111.090514. Epub 2012 Nov 28.

PMID:
23197161
14.

Germ-line CAG repeat instability causes extreme CAG repeat expansion with infantile-onset spinocerebellar ataxia type 2.

Vinther-Jensen T, Ek J, Duno M, Skovby F, Hjermind LE, Nielsen JE, Nielsen TT.

Eur J Hum Genet. 2013 Jun;21(6):626-9. doi: 10.1038/ejhg.2012.231. Epub 2012 Oct 10.

15.

Biochemical screening of 504,049 newborns in Denmark, the Faroe Islands and Greenland--experience and development of a routine program for expanded newborn screening.

Lund AM, Hougaard DM, Simonsen H, Andresen BS, Christensen M, Dunø M, Skogstrand K, Olsen RK, Jensen UG, Cohen A, Larsen N, Saugmann-Jensen P, Gregersen N, Brandt NJ, Christensen E, Skovby F, Nørgaard-Pedersen B.

Mol Genet Metab. 2012 Nov;107(3):281-93. doi: 10.1016/j.ymgme.2012.06.006. Epub 2012 Jun 21.

PMID:
22795865
16.

[Carnitine transporter deficiency is a hereditary disease with a high incidence in the Faroe Islands].

Poulsen SD, Lund AM, Christensen E, Skovby F.

Ugeskr Laeger. 2012 Apr 30;174(18):1217-9. Danish.

PMID:
22546157
17.

MCAD deficiency in Denmark.

Andresen BS, Lund AM, Hougaard DM, Christensen E, Gahrn B, Christensen M, Bross P, Vested A, Simonsen H, Skogstrand K, Olpin S, Brandt NJ, Skovby F, Nørgaard-Pedersen B, Gregersen N.

Mol Genet Metab. 2012 Jun;106(2):175-88. doi: 10.1016/j.ymgme.2012.03.018. Epub 2012 Apr 4.

PMID:
22542437
18.

Gonosomal mosaicism for an NF1 deletion in a sperm donor: evidence of the need for coordinated, long-term communication of health information among relevant parties.

Callum P, Messiaen LM, Bower PV, Skovby F, Iger J, Timshel S, Sims CA, Falk RE.

Hum Reprod. 2012 Apr;27(4):1223-6. doi: 10.1093/humrep/des014. Epub 2012 Feb 10.

PMID:
22328556
19.

Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity.

Daniel PB, Morgan T, Alanay Y, Bijlsma E, Cho TJ, Cole T, Collins F, David A, Devriendt K, Faivre L, Ikegawa S, Jacquemont S, Jesic M, Krakow D, Liebrecht D, Maitz S, Marlin S, Morin G, Nishikubo T, Nishimura G, Prescott T, Scarano G, Shafeghati Y, Skovby F, Tsutsumi S, Whiteford M, Zenker M, Robertson SP.

Hum Mutat. 2012 Apr;33(4):665-73. doi: 10.1002/humu.22012. Epub 2012 Jan 23.

PMID:
22190451
20.

[Improved prognosis of cystinosis achieved by treatment with cysteamine and by kidney transplantation].

Oczachowska-Kulik AE, Lund AM, Skovby F, Pedersen EB.

Ugeskr Laeger. 2011 Aug 15;173(33):1958-62. Review. Danish.

PMID:
21849135
21.

Cysteamine toxicity in patients with cystinosis.

Besouw MT, Bowker R, Dutertre JP, Emma F, Gahl WA, Greco M, Lilien MR, McKiernan J, Nobili F, Schneider JA, Skovby F, van den Heuvel LP, Van't Hoff WG, Levtchenko EN.

J Pediatr. 2011 Dec;159(6):1004-11. doi: 10.1016/j.jpeds.2011.05.057. Epub 2011 Jul 23.

PMID:
21784456
22.

Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3.

Hurst JA, Jenkins D, Vasudevan PC, Kirchhoff M, Skovby F, Rieubland C, Gallati S, Rittinger O, Kroisel PM, Johnson D, Biesecker LG, Wilkie AO.

Eur J Hum Genet. 2011 Jul;19(7):757-62. doi: 10.1038/ejhg.2011.13. Epub 2011 Feb 16.

23.

FGFR3 mutations and the skin: report of a patient with a FGFR3 gene mutation, acanthosis nigricans, hypochondroplasia and hyperinsulinemia and review of the literature.

Blomberg M, Jeppesen EM, Skovby F, Benfeldt E.

Dermatology. 2010;220(4):297-305. doi: 10.1159/000297575. Epub 2010 May 4. Review.

PMID:
20453470
24.

OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondria.

Huizing M, Dorward H, Ly L, Klootwijk E, Kleta R, Skovby F, Pei W, Feldman B, Gahl WA, Anikster Y.

Mol Genet Metab. 2010 Jun;100(2):149-54. doi: 10.1016/j.ymgme.2010.03.005. Epub 2010 Mar 16.

25.

[22q11 deletion syndrome].

Olesen C, Agergaard P, Boers M, Farholt S, Heilman CJ, Hvidkjaer L, Kristensen K, Lauritsen MB, Lunding J, Nielsen BW, Skovby F, Thrane N, Vogel I, Østergaard JR.

Ugeskr Laeger. 2010 Mar 29;172(13):1038-46. Review. Danish.

PMID:
20350479
26.

Clinical and biochemical monitoring of patients with fatty acid oxidation disorders.

Lund AM, Skovby F, Vestergaard H, Christensen M, Christensen E.

J Inherit Metab Dis. 2010 Oct;33(5):495-500. doi: 10.1007/s10545-009-9000-2. Epub 2010 Jan 12. Review.

PMID:
20066495
27.

[Severe vitamin B12 deficiency in infants breastfed by vegans].

Roed C, Skovby F, Lund AM.

Ugeskr Laeger. 2009 Oct 19;171(43):3099-101. Danish.

PMID:
19852900
28.

A revisit to the natural history of homocystinuria due to cystathionine beta-synthase deficiency.

Skovby F, Gaustadnes M, Mudd SH.

Mol Genet Metab. 2010 Jan;99(1):1-3. doi: 10.1016/j.ymgme.2009.09.009. Review.

29.

Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome.

Vega H, Trainer AH, Gordillo M, Crosier M, Kayserili H, Skovby F, Uzielli ML, Schnur RE, Manouvrier S, Blair E, Hurst JA, Forzano F, Meins M, Simola KO, Raas-Rothschild A, Hennekam RC, Jabs EW.

J Med Genet. 2010 Jan;47(1):30-7. doi: 10.1136/jmg.2009.068395. Epub 2009 Jul 1.

PMID:
19574259
30.

Phenotype and 244k array-CGH characterization of chromosome 13q deletions: an update of the phenotypic map of 13q21.1-qter.

Kirchhoff M, Bisgaard AM, Stoeva R, Dimitrov B, Gillessen-Kaesbach G, Fryns JP, Rose H, Grozdanova L, Ivanov I, Keymolen K, Fagerberg C, Tranebjaerg L, Skovby F, Stefanova M.

Am J Med Genet A. 2009 May;149A(5):894-905. doi: 10.1002/ajmg.a.32814.

PMID:
19363806
31.

Ventricular tachycardia in a Brugada syndrome patient caused by a novel deletion in SCN5A.

Tfelt-Hansen J, Jespersen T, Hofman-Bang J, Rasmussen HB, Cedergreen P, Skovby F, Abriel H, Svendsen JH, Olesen SP, Christiansen M, Haunso S.

Can J Cardiol. 2009 Mar;25(3):156-60.

32.

Tissue-specific amino acid transporter partners ACE2 and collectrin differentially interact with hartnup mutations.

Camargo SM, Singer D, Makrides V, Huggel K, Pos KM, Wagner CA, Kuba K, Danilczyk U, Skovby F, Kleta R, Penninger JM, Verrey F.

Gastroenterology. 2009 Mar;136(3):872-82. doi: 10.1053/j.gastro.2008.10.055. Epub 2008 Oct 29.

PMID:
19185582
33.

The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity.

Gordillo M, Vega H, Trainer AH, Hou F, Sakai N, Luque R, Kayserili H, Basaran S, Skovby F, Hennekam RC, Uzielli ML, Schnur RE, Manouvrier S, Chang S, Blair E, Hurst JA, Forzano F, Meins M, Simola KO, Raas-Rothschild A, Schultz RA, McDaniel LD, Ozono K, Inui K, Zou H, Jabs EW.

Hum Mol Genet. 2008 Jul 15;17(14):2172-80. doi: 10.1093/hmg/ddn116. Epub 2008 Apr 14.

PMID:
18411254
34.

A novel arginine-to-cysteine substitution in the triple helical region of the alpha1(I) collagen chain in a family with an osteogenesis imperfecta/Ehlers-Danlos phenotype.

Lund A, Joensen F, Christensen E, Dunø M, Skovby F, Schwartz M.

Clin Genet. 2008 Jan;73(1):97-101. Epub 2007 Nov 17. No abstract available.

PMID:
18028452
35.

Leukocyte cDNA analysis of NSD1 derived from confirmed Sotos syndrome patients.

Duno M, Skovby F, Schwartz M.

Ann Hum Genet. 2007 Nov;71(Pt 6):713-8. Epub 2007 Jun 11.

36.

Transmitted cytogenetic abnormalities in patients with mental retardation: pathogenic or normal variants?

Bisgaard AM, Kirchhoff M, Nielsen JE, Brandt C, Hove H, Jepsen B, Jensen T, Ullmann R, Skovby F.

Eur J Med Genet. 2007 Jul-Aug;50(4):243-55. Epub 2007 Apr 14.

PMID:
17531565
37.

Carnitine transporter and holocarboxylase synthetase deficiencies in The Faroe Islands.

Lund AM, Joensen F, Hougaard DM, Jensen LK, Christensen E, Christensen M, Nørgaard-Petersen B, Schwartz M, Skovby F.

J Inherit Metab Dis. 2007 Jun;30(3):341-9. Epub 2007 Apr 6.

PMID:
17417720
38.

Xanthurenic aciduria due to a mutation in KYNU encoding kynureninase.

Christensen M, Duno M, Lund AM, Skovby F, Christensen E.

J Inherit Metab Dis. 2007 Apr;30(2):248-55. Epub 2007 Mar 1.

PMID:
17334708
39.

[Molecular diagnosis of CHARGE syndrom].

Pedersen AM, Skovby F.

Ugeskr Laeger. 2007 Jan 29;169(5):402-6. Review. Danish.

PMID:
17280632
40.

Diversity of cystathionine beta-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversion.

Vyletal P, Sokolová J, Cooper DN, Kraus JP, Krawczak M, Pepe G, Rickards O, Koch HG, Linnebank M, Kluijtmans LA, Blom HJ, Boers GH, Gaustadnes M, Skovby F, Wilcken B, Wilcken DE, Andria G, Sebastio G, Naughten ER, Yap S, Ohura T, Pronicka E, Laszlo A, Kozich V.

Hum Mutat. 2007 Mar;28(3):255-64.

41.

Additional chromosomal abnormalities in patients with a previously detected abnormal karyotype, mental retardation, and dysmorphic features.

Bisgaard AM, Kirchhoff M, Tümer Z, Jepsen B, Brøndum-Nielsen K, Cohen M, Hamborg-Petersen B, Bryndorf T, Tommerup N, Skovby F.

Am J Med Genet A. 2006 Oct 15;140(20):2180-7.

PMID:
16955412
42.

[Optimising treatment for people with rare diseases].

Lund AM, Skovby F.

Ugeskr Laeger. 2006 Apr 10;168(15):1547-50. Danish.

PMID:
16640978
43.

Analysis of 65 tuberous sclerosis complex (TSC) patients by TSC2 DGGE, TSC1/TSC2 MLPA, and TSC1 long-range PCR sequencing, and report of 28 novel mutations.

Rendtorff ND, Bjerregaard B, Frödin M, Kjaergaard S, Hove H, Skovby F, Brøndum-Nielsen K, Schwartz M; Danish Tuberous Sclerosis Group.

Hum Mutat. 2005 Oct;26(4):374-83.

PMID:
16114042
44.

First NIH/Office of Rare Diseases Conference on Cystinosis: past, present, and future.

Kleta R, Kaskel F, Dohil R, Goodyer P, Guay-Woodford LM, Harms E, Ingelfinger JR, Koch VH, Langman CB, Leonard MB, Mannon RB, Sarwal M, Schneider JA, Skovby F, Sonies BC, Thoene JG, Trauner DA, Gahl WA; NIH Office of Rare Diseases.

Pediatr Nephrol. 2005 Apr;20(4):452-4. Epub 2005 Jan 27. Review. No abstract available.

PMID:
15747161
45.

DNA-based prenatal diagnosis for severe and variant forms of multiple acyl-CoA dehydrogenation deficiency.

Olsen RK, Andresen BS, Christensen E, Mandel H, Skovby F, Nielsen JP, Knudsen I, Vianey-Saban C, Simonsen H, Gregersen N.

Prenat Diagn. 2005 Jan;25(1):60-4.

PMID:
15662686
46.

Newborn screening for lysosomal storage disorders: clinical evaluation of a two-tier strategy.

Meikle PJ, Ranieri E, Simonsen H, Rozaklis T, Ramsay SL, Whitfield PD, Fuller M, Christensen E, Skovby F, Hopwood JJ.

Pediatrics. 2004 Oct;114(4):909-16.

PMID:
15466084
47.

Reinvestigation of trihydroxycholestanoic acidemia reveals a peroxisome biogenesis disorder.

Gootjes J, Skovby F, Christensen E, Wanders RJ, Ferdinandusse S.

Neurology. 2004 Jun 8;62(11):2077-81.

PMID:
15184617
48.

Molecular analysis of the SGLT2 gene in patients with renal glucosuria.

Santer R, Kinner M, Lassen CL, Schneppenheim R, Eggert P, Bald M, Brodehl J, Daschner M, Ehrich JH, Kemper M, Li Volti S, Neuhaus T, Skovby F, Swift PG, Schaub J, Klaerke D.

J Am Soc Nephrol. 2003 Nov;14(11):2873-82.

49.

Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency.

Olsen RK, Andresen BS, Christensen E, Bross P, Skovby F, Gregersen N.

Hum Mutat. 2003 Jul;22(1):12-23.

PMID:
12815589
50.

[Treatment of inborn metabolic disorders].

Lund AM, Skovby F.

Ugeskr Laeger. 2002 Nov 25;164(48):5619-23. Review. Danish.

PMID:
12523005

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