Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 161

1.

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.

2.

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.

PMID:
28838366
3.

[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. Danish.

PMID:
28473029
4.

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.

5.

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.

6.

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
7.

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.

8.

[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
9.

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.

10.

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
11.

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].

12.

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
13.

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.

14.

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
15.

[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
16.

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
17.

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
18.

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
19.

[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
20.

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
21.

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.

22.

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
23.

Paediatric primary care in Europe: variation between countries.

van Esso D, del Torso S, Hadjipanayis A, Biver A, Jaeger-Roman E, Wettergren B, Nicholson A; Primary-Secondary Working Group (PSWG) of European Academy of Paediatrics (EAP).

Arch Dis Child. 2010 Oct;95(10):791-5. doi: 10.1136/adc.2009.178459. Epub 2010 Apr 19.

PMID:
20403821
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
51.

[Diagnosis and acute treatment of inborn metabolic diseases in infants].

Lund AM, Christensen E, Skovby F.

Ugeskr Laeger. 2002 Nov 25;164(48):5613-9. Review. Danish.

PMID:
12523004
52.

Causality of myelodysplasia and acute myeloid leukemia and their genetic abnormalities.

Pedersen-Bjergaard J, Christiansen DH, Andersen MK, Skovby F.

Leukemia. 2002 Nov;16(11):2177-84. Review.

53.

Prepubertal growth in congenital disorder of glycosylation type Ia (CDG-Ia).

Kjaergaard S, Müller J, Skovby F.

Arch Dis Child. 2002 Oct;87(4):324-7.

54.

TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies.

Katzke S, Booms P, Tiecke F, Palz M, Pletschacher A, Türkmen S, Neumann LM, Pregla R, Leitner C, Schramm C, Lorenz P, Hagemeier C, Fuchs J, Skovby F, Rosenberg T, Robinson PN.

Hum Mutat. 2002 Sep;20(3):197-208.

PMID:
12203992
55.

3-Methylglutaconic aciduria type III in a non-Iraqi-Jewish kindred: clinical and molecular findings.

Kleta R, Skovby F, Christensen E, Rosenberg T, Gahl WA, Anikster Y.

Mol Genet Metab. 2002 Jul;76(3):201-6.

PMID:
12126933
56.

High homocysteine and thrombosis without connective tissue disorders are associated with a novel class of cystathionine beta-synthase (CBS) mutations.

Maclean KN, Gaustadnes M, Oliveriusová J, Janosík M, Kraus E, Kozich V, Kery V, Skovby F, Rüdiger N, Ingerslev J, Stabler SP, Allen RH, Kraus JP.

Hum Mutat. 2002 Jun;19(6):641-55.

PMID:
12007221
57.

[Children, fat and cardiovascular diseases].

Michaelsen KF, Dyerberg J, Falk E, Hansen HS, Marckmann P, Overvad OK, Schack-Nielsen L, Skovby F, Sørensen KE.

Ugeskr Laeger. 2002 Mar 4;164(10):1334-8. Review. Danish.

PMID:
11894424
58.

The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome.

Santer R, Groth S, Kinner M, Dombrowski A, Berry GT, Brodehl J, Leonard JV, Moses S, Norgren S, Skovby F, Schneppenheim R, Steinmann B, Schaub J.

Hum Genet. 2002 Jan;110(1):21-9. Epub 2001 Nov 17.

PMID:
11810292
59.

[Dysmorphic children].

Skovby F.

Ugeskr Laeger. 2001 Oct 8;163(41):5639. Danish. No abstract available.

PMID:
11665462
60.
61.

Neonatal screening for galactosemia by quantitative analysis of hexose monophosphates using tandem mass spectrometry: a retrospective study.

Jensen UG, Brandt NJ, Christensen E, Skovby F, Nørgaard-Pedersen B, Simonsen H.

Clin Chem. 2001 Aug;47(8):1364-72.

62.

Design of a pilot study to evaluate tandem mass spectrometry for neonatal screening.

Simonsen H, Jensen UG, Brandt NJ, Christensen E, Skovby F, Nørgaard-Pedersen B.

Southeast Asian J Trop Med Public Health. 1999;30 Suppl 2:166-9.

PMID:
11400760
63.

Molecular genetic basis and prevalence of glycogen storage disease type IIIA in the Faroe Islands.

Santer R, Kinner M, Steuerwald U, Kjaergaard S, Skovby F, Simonsen H, Shaiu WL, Chen YT, Schneppenheim R, Schaub J.

Eur J Hum Genet. 2001 May;9(5):388-91.

64.

Genetic and metabolic analysis of the first adult with congenital disorder of glycosylation type Ib: long-term outcome and effects of mannose supplementation.

Westphal V, Kjaergaard S, Davis JA, Peterson SM, Skovby F, Freeze HH.

Mol Genet Metab. 2001 May;73(1):77-85.

PMID:
11350186
65.

[Homocysteine and cardiovascular disease].

Skovby F, Dyerberg J, Nexø E, Osler M, Rasmussen K, Stender S.

Ugeskr Laeger. 2001 Mar 26;163(13):1830-3. Review. Danish.

PMID:
11293310
66.

Classic, atypically severe and neonatal Marfan syndrome: twelve mutations and genotype-phenotype correlations in FBN1 exons 24-40.

Tiecke F, Katzke S, Booms P, Robinson PN, Neumann L, Godfrey M, Mathews KR, Scheuner M, Hinkel GK, Brenner RE, Hövels-Gürich HH, Hagemeier C, Fuchs J, Skovby F, Rosenberg T.

Eur J Hum Genet. 2001 Jan;9(1):13-21.

67.

Isolated 2-methylbutyrylglycinuria caused by short/branched-chain acyl-CoA dehydrogenase deficiency: identification of a new enzyme defect, resolution of its molecular basis, and evidence for distinct acyl-CoA dehydrogenases in isoleucine and valine metabolism.

Andresen BS, Christensen E, Corydon TJ, Bross P, Pilgaard B, Wanders RJ, Ruiter JP, Simonsen H, Winter V, Knudsen I, Schroeder LD, Gregersen N, Skovby F.

Am J Hum Genet. 2000 Nov;67(5):1095-103. Epub 2000 Sep 29.

68.

Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome.

van Bokhoven H, Celli J, Kayserili H, van Beusekom E, Balci S, Brussel W, Skovby F, Kerr B, Percin EF, Akarsu N, Brunner HG.

Nat Genet. 2000 Aug;25(4):423-6.

PMID:
10932187
69.

[Child abuse and osteogenesis imperfecta. How do we distinguish?].

Lund AM, Skovby F, Knudsen FU.

Ugeskr Laeger. 2000 Mar 13;162(11):1528-33. Review. Danish.

PMID:
10868105
70.

High incidence of propionic acidemia in greenland is due to a prevalent mutation, 1540insCCC, in the gene for the beta-subunit of propionyl CoA carboxylase.

Ravn K, Chloupkova M, Christensen E, Brandt NJ, Simonsen H, Kraus JP, Nielsen IM, Skovby F, Schwartz M.

Am J Hum Genet. 2000 Jul;67(1):203-6. Epub 2000 May 16. Erratum in: Am J Hum Genet 2000 Jul;67(1):270.

71.

Clustering of mutations associated with mild Marfan-like phenotypes in the 3' region of FBN1 suggests a potential genotype-phenotype correlation.

Palz M, Tiecke F, Booms P, Göldner B, Rosenberg T, Fuchs J, Skovby F, Schumacher H, Kaufmann UC, von Kodolitsch Y, Nienaber CA, Leitner C, Katzke S, Vetter B, Hagemeier C, Robinson PN.

Am J Med Genet. 2000 Mar 20;91(3):212-21.

PMID:
10756346
72.

[Rett syndrome: congenital defect of a transcription inhibitory protein].

Nielsen JB, Skovby F.

Ugeskr Laeger. 2000 Jan 31;162(5):672. Danish. No abstract available.

PMID:
10707603
73.

Abnormal timing in the prenatal ossification of vertebral column and hand in Crouzon syndrome.

Kjaer I, Hansen BF, Kjaer KW, Skovby F.

Am J Med Genet. 2000 Feb 28;90(5):386-9.

PMID:
10706360
74.
75.

Oral manifestations of Schimmelpenning syndrome: case report and review of literature.

Murakami A, Skovby F, Andreasen JO, Cohen MM Jr, Jensen BL, Kreiborg S.

Ann Acad Med Singapore. 1999 Sep;28(5):744-8. Review.

PMID:
10597363
76.

Bone mineral content and collagen defects in osteogenesis imperfecta.

Lund AM, Mølgaard C, Müller J, Skovby F.

Acta Paediatr. 1999 Oct;88(10):1083-8.

PMID:
10565454
77.

Osteogenesis imperfecta: mosaicism and refinement of the genotype-phenotype map in OI type III. Mutations in brief no. 242. Online.

Lund AM, Aström E, Söderhäll S, Schwartz M, Skovby F.

Hum Mutat. 1999;13(6):503.

PMID:
10408781
78.

Anthropometry of patients with osteogenesis imperfecta.

Lund AM, Müller J, Skovby F.

Arch Dis Child. 1999 Jun;80(6):524-8.

79.

[Information to health personnel on increased examination of inborn metabolic errors in newborn infants].

Simonsen H, Nørgaard-Pedersen B, Skovby F.

Ugeskr Laeger. 1999 Mar 1;161(9):1281. Danish. No abstract available.

PMID:
10083830
80.

Recurrent fetal polycystic kidneys associated with glutaric aciduria type II.

Kjaergaard S, Graem N, Larsen T, Skovby F.

APMIS. 1998 Dec;106(12):1188-93.

PMID:
10052728
81.

[Treatment of hereditary and malignant diseases by regulating genetic transcription?].

Skovby F.

Ugeskr Laeger. 1998 Dec 14;160(51):7447. Danish. No abstract available.

PMID:
9889663
82.

Collagen-derived markers of bone metabolism in osteogenesis imperfecta.

Lund AM, Hansen M, Kollerup G, Juul A, Teisner B, Skovby F.

Acta Paediatr. 1998 Nov;87(11):1131-7.

PMID:
9846914
83.

[Neonatal screening for hereditary diseases].

Skovby F.

Ugeskr Laeger. 1998 Sep 28;160(40):5765. Danish. No abstract available.

PMID:
9782752
84.
85.

Failure of short-term mannose therapy of patients with carbohydrate-deficient glycoprotein syndrome type 1A.

Kjaergaard S, Kristiansson B, Stibler H, Freeze HH, Schwartz M, Martinsson T, Skovby F.

Acta Paediatr. 1998 Aug;87(8):884-8.

PMID:
9736238
86.

Dental manifestations of osteogenesis imperfecta and abnormalities of collagen I metabolism.

Lund AM, Jensen BL, Nielsen LA, Skovby F.

J Craniofac Genet Dev Biol. 1998 Jan-Mar;18(1):30-7.

PMID:
9594376
87.

Folate and neural tube defects. Recommendations from a Danish working group.

Rasmussen LB, Andersen NL, Andersson G, Lange AP, Rasmussen K, Skak-Iversen L, Skovby F, Ovesen L.

Dan Med Bull. 1998 Apr;45(2):213-7. Review.

PMID:
9587705
88.

Anophthalmia-microphthalmia-oblique clefting syndrome: confirmation of the Fryns anophthalmia syndrome.

Warburg M, Jensen H, Prause JU, Bolund S, Skovby F, Miranda MJ.

Am J Med Genet. 1997 Nov 28;73(1):36-40.

PMID:
9375920
89.

Abnormal metabolism of mannose in families with carbohydrate-deficient glycoprotein syndrome type 1.

Panneerselvam K, Etchison JR, Skovby F, Freeze HH.

Biochem Mol Med. 1997 Aug;61(2):161-7.

PMID:
9259981
91.
92.

Fine mapping of the gene for carbohydrate-deficient glycoprotein syndrome, type I (CDG1): linkage disequilibrium and founder effect in Scandinavian families.

Bjursell C, Stibler H, Wahlström J, Kristiansson B, Skovby F, Strömme P, Blennow G, Martinsson T.

Genomics. 1997 Feb 1;39(3):247-53.

PMID:
9119361
94.
95.

Investigation of deletions at 7q11.23 in 44 patients referred for Williams-Beuren syndrome, using FISH and four DNA polymorphisms.

Brøndum-Nielsen K, Beck B, Gyftodimou J, Hørlyk H, Liljenberg U, Petersen MB, Pedersen W, Petersen MB, Sand A, Skovby F, Stafanger G, Zetterqvist P, Tommerup N.

Hum Genet. 1997 Jan;99(1):56-61.

PMID:
9003495
96.

Quantification, by solid-phase minisequencing, of the telomeric and centromeric copies of the survival motor neuron gene in families with spinal muscular atrophy.

Schwartz M, Sørensen N, Hansen FJ, Hertz JM, Nørby S, Tranebjaerg L, Skovby F.

Hum Mol Genet. 1997 Jan;6(1):99-104.

PMID:
9002676
97.
98.

Genetic counselling and prenatal diagnosis of osteogenesis imperfecta caused by paternal mosaicism.

Lund AM, Schwartz M, Skovby F.

Prenat Diagn. 1996 Nov;16(11):1032-8.

PMID:
8953637
99.

[A follow-up study of carriers of cystic fibrosis].

Brandt NJ, Schwartz M, Skovby F, Clausen H.

Ugeskr Laeger. 1996 Aug 12;158(33):4623-7. Danish.

PMID:
8760517
100.

[Fibroblast growth factors, their receptors and congenital diseases].

Skovby F, Hertz H.

Ugeskr Laeger. 1996 May 13;158(20):2865. Danish. No abstract available.

PMID:
8686024
101.

Psychological and social impact of carrier screening for cystic fibrosis among pregnant woman--a pilot study.

Clausen H, Brandt NJ, Schwartz M, Skovby F.

Clin Genet. 1996 Apr;49(4):200-5.

PMID:
8828986
102.

Mutation spectrum in patients with Wiskott-Aldrich syndrome and X-linked thrombocytopenia: identification of twelve different mutations in the WASP gene.

Schwartz M, Békássy A, Donnér M, Hertel T, Hreidarson S, Kerndrup G, Stormorken H, Stokland T, Tranebjaerg L, Orstavik KH, Skovby F.

Thromb Haemost. 1996 Apr;75(4):546-50.

PMID:
8743175
103.
104.

[Prenatal screening for abnormalities and chromosomal disorders].

Brandt NJ, Skovby F.

Ugeskr Laeger. 1996 Feb 26;158(9):1197. Danish. No abstract available.

PMID:
8644422
105.

First-trimester prenatal diagnosis of Crouzon syndrome.

Schwartz M, Kreiborg S, Skovby F.

Prenat Diagn. 1996 Feb;16(2):155-8.

PMID:
8650126
106.

Gly802Asp substitution in the pro alpha 2(I) collagen chain in a family with recurrent osteogenesis imperfecta due to paternal mosaicism.

Lund AM, Schwartz M, Raghunath M, Steinmann B, Skovby F.

Eur J Hum Genet. 1996;4(1):39-45.

PMID:
8800927
107.

Psychological impact of carrier screening for cystic fibrosis among pregnant women.

Clausen H, Brandt NJ, Schwartz M, Skovby F.

Eur J Hum Genet. 1996;4(2):120-3.

PMID:
8744031
108.

Abnormal synthesis of dolichol-linked oligosaccharides in carbohydrate-deficient glycoprotein syndrome.

Krasnewich DM, Holt GD, Brantly M, Skovby F, Redwine J, Gahl WA.

Glycobiology. 1995 Jul;5(5):503-10.

PMID:
8563136
109.

A novel variant of lysosomal acid lipase (Leu336-->Pro) associated with acid lipase deficiency and cholesterol ester storage disease.

Seedorf U, Wiebusch H, Muntoni S, Christensen NC, Skovby F, Nickel V, Roskos M, Funke H, Ose L, Assmann G.

Arterioscler Thromb Vasc Biol. 1995 Jun;15(6):773-8.

PMID:
7773732
110.

Cerebellar hypoplasia in children with the carbohydrate-deficient glycoprotein syndrome.

Jensen PR, Hansen FJ, Skovby F.

Neuroradiology. 1995 May;37(4):328-30.

PMID:
7666974
111.

Severe insulin-resistant diabetes mellitus in patients with congenital muscle fiber type disproportion myopathy.

Vestergaard H, Klein HH, Hansen T, Müller J, Skovby F, Bjørbaek C, Røder ME, Pedersen O.

J Clin Invest. 1995 Apr;95(4):1925-32.

112.

Linkage of a locus for carbohydrate-deficient glycoprotein syndrome type I (CDG1) to chromosome 16p, and linkage disequilibrium to microsatellite marker D16S406.

Martinsson T, Bjursell C, Stibler H, Kristiansson B, Skovby F, Jaeken J, Blennow G, Strömme P, Hanefeld F, Wahlström J.

Hum Mol Genet. 1994 Nov;3(11):2037-42.

PMID:
7874123
113.

Failure to diagnose carbohydrate-deficient glycoprotein syndrome prenatally.

Stibler H, Skovby F.

Pediatr Neurol. 1994 Jul;11(1):71. No abstract available.

PMID:
7527215
114.

[Screening for carriers of cystic fibrosis. Result of a pilot study among pregnant women].

Brandt NJ, Schwartz M, Skovby F.

Ugeskr Laeger. 1994 Jun 20;156(25):3751-4, 3757. Danish.

PMID:
8059452
115.

[Neurofibromatosis type 1 in children].

Lund AM, Skovby F.

Ugeskr Laeger. 1994 May 23;156(21):3180-2. Danish.

PMID:
8066837
116.

[Screening of school children for familial hypercholesterolemia].

Jepsen BS, Micic S, Hansen B, Larsen SO, Pedersen BN, Skovby F.

Ugeskr Laeger. 1994 Mar 28;156(13):1962-4. Danish.

PMID:
8009690
117.

Cholesterol-lowering diets may increase the food costs for Danish children. A cross-sectional study of food costs for Danish children with and without familial hypercholesterolaemia.

Stender S, Skovby F, Haraldsdóttir J, Andresen GR, Michaelsen KF, Nielsen BS, Ygil KH.

Eur J Clin Nutr. 1993 Nov;47(11):776-86.

PMID:
8287847
118.

Compromise of the spinal canal in Proteus syndrome.

Skovby F, Graham JM Jr, Sonne-Holm S, Cohen MM Jr.

Am J Med Genet. 1993 Oct 1;47(5):656-9.

PMID:
8266993
119.

Comparative three-dimensional analysis of CT-scans of the calvaria and cranial base in Apert and Crouzon syndromes.

Kreiborg S, Marsh JL, Cohen MM Jr, Liversage M, Pedersen H, Skovby F, Børgesen SE, Vannier MW.

J Craniomaxillofac Surg. 1993 Jul;21(5):181-8.

PMID:
8360349
120.

[Hyperlipidemia in children].

Skovby F, Dyerberg J, Faergeman O, Haghfelt T, Jensen TJ, Leth A, Sigurd B, Stender S, Vittrup MA.

Ugeskr Laeger. 1993 Mar 15;155(11):810-4. Danish. No abstract available.

PMID:
8460436
121.

[Liver transplantation in Denmark. First-year experiences].

Kirkegaard P, Hjortrup A, Keiding S, Skovby F, Hage E, Secher NH, Heslet L.

Ugeskr Laeger. 1993 Mar 8;155(10):684-7. Danish.

PMID:
8456506
122.

Postmortem findings and prenatal diagnosis of Zellweger syndrome. Case report.

Lindhard A, Graem N, Skovby F, Jeppesen D.

APMIS. 1993 Mar;101(3):226-8.

PMID:
8507459
123.

Diagnosis of Zellweger syndrome by analysis of very long-chain fatty acids in stored blood spots collected at neonatal screening.

Jakobs C, van den Heuvel CM, Stellaard F, Largillière C, Skovby F, Christensen E.

J Inherit Metab Dis. 1993;16(1):63-6. No abstract available.

PMID:
8487504
124.

Early manifestations of the carbohydrate-deficient glycoprotein syndrome.

Petersen MB, Brostrøm K, Stibler H, Skovby F.

J Pediatr. 1993 Jan;122(1):66-70.

PMID:
8419616
125.

Screening for carriers of cystic fibrosis among pregnant women: a pilot study.

Schwartz M, Brandt NJ, Skovby F.

Eur J Hum Genet. 1993;1(3):239-44.

PMID:
8044649
126.

Growth during treatment of familial hypercholesterolemia.

Hansen D, Michaelsen KF, Skovby F.

Acta Paediatr. 1992 Dec;81(12):1023-5.

PMID:
1290846
127.

Primary hyperoxaluria type 1: clinical manifestations in infancy and prenatal diagnosis.

Illum N, Lavard L, Danpure CJ, Horn T, AErenlund Jensen H, Skovby F.

Child Nephrol Urol. 1992;12(4):225-7.

PMID:
1473096
128.

Optic gliomas in children with neurofibromatosis type 1.

Lund AM, Skovby F.

Eur J Pediatr. 1991 Oct;150(12):835-8.

PMID:
1743214
129.

Screening for familial hypercholesterolaemia by measurement of apolipoproteins in capillary blood.

Skovby F, Micic S, Jepsen B, Larsen SO, Hansen B, Tegllund L, Pedersen BN.

Arch Dis Child. 1991 Jul;66(7):844-7.

130.

[Orientation on genetic screening for cystic fibrosis].

Brandt NJ, Schwartz M, Skovby F.

Ugeskr Laeger. 1991 May 6;153(19):1365-8. Danish. No abstract available.

PMID:
2042248
131.

Craniofacial characteristics of Proteus syndrome: two modes of abnormal growth.

Kreiborg S, Cohen MM Jr, Skovby F.

Proc Finn Dent Soc. 1991;87(1):183-8.

PMID:
2057486
132.

[Recommendations for clinical-chemical departments: lipid-lipoprotein analysis].

Dyerberg J, Stender S, Andersen GE, Faergeman O, Haghfelt T, Hviid T, Jensen TJ, Leth A, Sigurd B, Skovby F.

Ugeskr Laeger. 1990 May 14;152(20):1434-7. Danish.

PMID:
2343500
133.

[Liver transplantation undertaken on Danes abroad].

Keiding S, Freund L, Hobolth N, Holsteen V, Mac Intyre BH, Kirkegaard P, Nielsen MM, Rokkjaer M, Schaffalitzky de Muckadell OB, Skovby F, et al.

Ugeskr Laeger. 1989 Feb 6;151(6):360-2. Danish.

PMID:
2645735
134.
135.

Lethal autosomal recessive arthrogryposis multiplex congenita with whistling face and calcifications of the nervous system.

Illum N, Reske-Nielsen E, Skovby F, Askjaer SA, Bernsen A.

Neuropediatrics. 1988 Nov;19(4):186-92.

PMID:
3205375
136.

[Prenatal diagnosis of ornithine transcarbamylase deficiency using a DNA marker analysis].

Schwartz M, Skovby F, Christensen E, Christensen NC.

Ugeskr Laeger. 1988 Oct 31;150(44):2641-3. Danish. No abstract available.

PMID:
3201597
137.

[Hyperammonemia in children].

Skovby F.

Ugeskr Laeger. 1988 Oct 31;150(44):2638-41. Danish. No abstract available.

PMID:
3201596
138.

[Familial hypercholesterolemia].

Jensen LT, Skovby F, Andersen GE.

Ugeskr Laeger. 1988 Jun 27;150(26):1586-8. Review. Danish. No abstract available.

PMID:
3291343
139.

Hypophosphatemic rickets in linear sebaceous nevus sequence.

Skovby F, Svejgaard E, Møller J.

J Pediatr. 1987 Dec;111(6 Pt 1):855-7. No abstract available.

PMID:
3681552
140.

Detection and exclusion of carriers of ornithine transcarbamylase deficiency by RFLP analysis.

Schwartz M, Christensen E, Christensen NC, Skovby F, Davies KE, Old JM.

Clin Genet. 1986 May;29(5):449-52.

PMID:
3017613
141.

[Genetic diagnosis and counseling in perinatal death].

Skovby F.

Ugeskr Laeger. 1986 Mar 17;148(12):699-700. Danish. No abstract available.

PMID:
3961964
142.

The natural history of homocystinuria due to cystathionine beta-synthase deficiency.

Mudd SH, Skovby F, Levy HL, Pettigrew KD, Wilcken B, Pyeritz RE, Andria G, Boers GH, Bromberg IL, Cerone R, et al.

Am J Hum Genet. 1985 Jan;37(1):1-31.

143.

Homocystinuria. Clinical, biochemical and genetic aspects of cystathionine beta-synthase and its deficiency in man.

Skovby F.

Acta Paediatr Scand Suppl. 1985;321:1-21. No abstract available.

PMID:
3869875
145.

Biosynthesis and proteolytic activation of cystathionine beta-synthase in rat liver.

Skovby F, Kraus JP, Rosenberg LE.

J Biol Chem. 1984 Jan 10;259(1):588-93.

146.

Biosynthesis of human cystathionine beta-synthase in cultured fibroblasts.

Skovby F, Kraus JP, Rosenberg LE.

J Biol Chem. 1984 Jan 10;259(1):583-7.

147.
148.

Pemphigus foliaceus and proteinuria induced by alpha-mercaptopropionylglycine.

Lucky PA, Skovby F, Thier SO.

J Am Acad Dermatol. 1983 May;8(5):667-72.

PMID:
6863624
149.

Herpes zoster and varicella in children with Hodgkin's disease.

Skovby F, Sullivan MP.

Acta Paediatr Scand. 1982 Mar;71(2):269-73.

PMID:
7136635
150.
151.

No effect of L-glutamine on cystinuria.

Skovby F, Rosenberg LE, Thier SO.

N Engl J Med. 1980 Jan 24;302(4):236-7. No abstract available.

PMID:
7350472
152.

The phenotypic variability of diastrophic dysplasia.

Horton WA, Rimoin DL, Lachman RS, Skovby F, Hollister DW, Spranger J, Scott CI, Hall JG.

J Pediatr. 1978 Oct;93(4):609-13.

PMID:
702237
153.

Cytogenetic studies in seven individuals with an i(Xq) karyotype.

Niebuhr E, Skovby F.

Hereditas. 1977;86(1):121-8. No abstract available.

154.

[Vitamin D-resistant hypophosphatemic rickets].

Skovby F.

Ugeskr Laeger. 1977 Jan;139(3):147-8. Danish. No abstract available.

PMID:
831342
155.

Estrogen treatment of tall stature in girls with the Marfan syndrome.

Skovby F, McKusick VA.

Birth Defects Orig Artic Ser. 1977;13(3C):155-61. No abstract available.

PMID:
196698
156.

[Cerebral gigantism Sotos' syndrome].

Skovby F.

Ugeskr Laeger. 1976 Nov 8;138(46):2877. Danish. No abstract available.

PMID:
982642
157.

Nomenclature: additional chromosome bands.

Skovby F.

Clin Genet. 1975 Jan;7(1):21-8. No abstract available.

PMID:
1090400
158.
159.

[Trisomy 9p Rethoré's syndrome].

Skovby F.

Ugeskr Laeger. 1974 Jul 1;136(27):1509. Danish. No abstract available.

PMID:
4454086
160.

[Chromosome identification and chromosome disease].

Skovby F.

Ugeskr Laeger. 1973 Aug 27;135(35):1892. Danish. No abstract available.

PMID:
4129851
161.

[Identification of human chromosomes. A review of a new staining methods and their field of application].

Skovby F, Eiberg H, Mohr J.

Ugeskr Laeger. 1973 Aug 6;135(32):1671-4. Danish. No abstract available.

PMID:
4129774

Supplemental Content

Loading ...
Support Center