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Flemming Skovby

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Tua Vinther-Jensen; Flemming Skovby; Morten Duno; Jakob Ek; Lena Elisabeth Hjermind; Jørgen E Nielsen; Troels Tolstrup Nielsen
Germ-line CAG repeat instability causes extreme CAG repeat expansion with infantile-onset spinocerebellar ataxia type 2.
Morten K Jensen; Lars Køber; Flemming Skovby; Paal S Andersen; Anna Axelsson; Michael Christiansen; Birgitte Diness; Ole Havndrup; Henning Bundgaard
Penetrance of hypertrophic cardiomyopathy in children and adolescents: a 12-year follow-up study of clinical screening and predictive genetic testing.
Allan Meldgaard Lund; Rikke K J Olsen; Peter Saugmann-Jensen; Henrik Simonsen; Kristin Skogstrand; Flemming Skovby; Brage Storstein Andresen; NJ Brandt; Ernst Christensen; Mette Christensen; Arieh Cohen; Morten Duno; Niels Gregersen; David Michael Hougaard; Ulrich Glümer Jensen; Nanna Larsen; Bent Nørgaard-Pedersen
Biochemical screening of 504,049 newborns in Denmark, the Faroe Islands and Greenland--experience and development of a routine program for expanded newborn screening.

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2013: Tua Vinther-Jensen; Flemming Skovby; Morten Duno; Jakob Ek; Lena Elisabeth Hjermind; Jørgen E Nielsen; Troels Tolstrup Nielsen
Germ-line CAG repeat instability causes extreme CAG repeat expansion with infantile-onset spinocerebellar ataxia type 2.
European journal of human genetics : EJHG 2013;21(6):626-9.
2013: Morten K Jensen; Lars Køber; Flemming Skovby; Paal S Andersen; Anna Axelsson; Michael Christiansen; Birgitte Diness; Ole Havndrup; Henning Bundgaard
Penetrance of hypertrophic cardiomyopathy in children and adolescents: a 12-year follow-up study of clinical screening and predictive genetic testing.
Circulation 2013;127(1):48-54.
2012: Allan Meldgaard Lund; Rikke K J Olsen; Peter Saugmann-Jensen; Henrik Simonsen; Kristin Skogstrand; Flemming Skovby; Brage Storstein Andresen; NJ Brandt; Ernst Christensen; Mette Christensen; Arieh Cohen; Morten Duno; Niels Gregersen; David Michael Hougaard; Ulrich Glümer Jensen; Nanna Larsen; Bent Nørgaard-Pedersen
Biochemical screening of 504,049 newborns in Denmark, the Faroe Islands and Greenland--experience and development of a routine program for expanded newborn screening.
Molecular genetics and metabolism 2012;107(3):281-93.
2012: Brage S Andresen; Niels Jacob Brandt; Peter Bross; Ernst Christensen; Mette Christensen; Birthe Gahrn; David Michael Hougaard; Allan Meldgaard Lund; Bent Nørgaard-Pedersen; Simon E Olpin; Henrik Simonsen; Kristin Skogstrand; Flemming Skovby; Anne Vested; Niels Gregersen
MCAD deficiency in Denmark.
Molecular genetics and metabolism 2012;106(2):175-88.
2012: Sissal Djurhuus Poulsen; Ernst Christensen; Allan Meldgaard Lund; Flemming Skovby
[Carnitine transporter deficiency is a hereditary disease with a high incidence in the Faroe Islands].
Ugeskrift for laeger 2012;174(18):1217-9.
2012: Philip B Daniel; Albert David; Koen Devriendt; Laurence Faivre; Shiro Ikegawa; Sebastien Jacquemont; Milos Jesic; Deborah Krakow; Daniela Liebrecht; Silvia Maitz; Sandrine Marlin; Tim Morgan; Gilles Morin; Toshiya Nishikubo; Gen Nishimura; Trine Prescott; Yasemin Alanay; Emilia Bijlsma; Tae-Joon Cho; Trevor Cole; Felicity Collins; Gioacchino Scarano; Yousef Shafeghati; Flemming Skovby; Seiji Tsutsumi; Margo Whiteford; Martin Zenker; Stephen P Robertson
Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity.
Human mutation 2012;33(4):665-73.
2011: Martine T P Besouw; Richard Bowker; Jean-Paul Dutertre; Francesco Emma; William A Gahl; Marcella Greco; Marc R Lilien; John McKiernan; François Nobili; Jerry A Schneider; Flemming Skovby; Lambertus P van den Heuvel; William G Van't Hoff; Elena N Levtchenko
Cysteamine toxicity in patients with cystinosis.
The Journal of pediatrics 2011;159(6):1004-11.
2011: Anna Ewa Oczachowska-Kulik; Allan Meldgaard Lund; Flemming Skovby; Erling Bjerregaard Pedersen
[Improved prognosis of cystinosis achieved by treatment with cysteamine and by kidney transplantation].
Ugeskrift for laeger 2011;173(33):1958-62.
2011: Jane A Hurst; Dagan Jenkins; David Johnson; Maria Kirchhoff; Peter M Kroisel; Claudine Rieubland; Olaf Rittinger; Flemming Skovby; Pradeep C Vasudevan; Leslie G Biesecker; Sabina Gallati; Andrew O M Wilkie
Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3.
European journal of human genetics : EJHG 2011;19(7):757-62.
2010: Allan Meldgaard Lund; Flemming Skovby; Helle Vestergaard; Mette Christensen; Ernst Christensen
Clinical and biochemical monitoring of patients with fatty acid oxidation disorders.
Journal of inherited metabolic disease 2010;33(5):495-500.
2010: Marjan Huizing; Heidi Dorward; Lien Ly; Enriko Klootwijk; Robert Kleta; Flemming Skovby; Wuhong Pei; Benjamin Feldman; William A Gahl; Yair Anikster
OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondria.
Molecular genetics and metabolism 2010;100(2):149-54.
2010: Flemming Skovby; Mette Gaustadnes; S Harvey Mudd
A revisit to the natural history of homocystinuria due to cystathionine beta-synthase deficiency.
Molecular genetics and metabolism 2010;99(1):1-3.
2009: Casper Roed; Flemming Skovby; Allan Meldgaard Lund
[Severe vitamin B12 deficiency in infants breastfed by vegans].
Ugeskrift for laeger 2009;171(43):3099-101.
2009: Maria Kirchhoff; Anne-Marie Bisgaard; Radka Stoeva; Boyan Dimitrov; Gabriele Gillessen-Kaesbach; Jean-Pierre Fryns; Hanne Rose; Liliana Grozdanova; Ivan Ivanov; Kathelijn Keymolen; Christina Fagerberg; Lisbeth Tranebjaerg; Flemming Skovby; Margarita Stefanova
Phenotype and 244k array-CGH characterization of chromosome 13q deletions: an update of the phenotypic map of 13q21.1-qter.
American journal of medical genetics. Part A 2009;149A(5):894-905.
2009: Jacob Tfelt-Hansen; T Jespersen; J Hofman-Bang; H Borger Rasmussen; P Cedergreen; Flemming Skovby; H Abriel; Jesper Hastrup Svendsen; Søren-Peter Olesen; Michael Christiansen; Stig Haunso
Ventricular tachycardia in a Brugada syndrome patient caused by a novel deletion in SCN5A.
The Canadian journal of cardiology 2009;25(3):156-60.
2009: Simone M R Camargo; Dustin Singer; Victoria Makrides; Katja Huggel; Klaas M Pos; Carsten A Wagner; Keiji Kuba; Ursula Danilczyk; Flemming Skovby; Robert Kleta; Josef M Penninger; François Verrey
Tissue-specific amino acid transporter partners ACE2 and collectrin differentially interact with hartnup mutations.
Gastroenterology 2009;136(3):872-82.
2008: Miriam Gordillo; Hugo Vega; Alison H Trainer; Fajian Hou; Norio Sakai; Ricardo Luque; Hülya Kayserili; Seher Basaran; Flemming Skovby; Raoul Hennekam; Maria L Giovannucci Uzielli; Rhonda E Schnur; Sylvie Manouvrier; Susan Chang; Edward Blair; Jane A Hurst; Francesca Forzano; Moritz Meins; Kalle O J Simola; Annick Raas-Rothschild; Roger A Schultz; Lisa D McDaniel; Keiichi Ozono; Koji Inui; Hui Zou; Ethylin Jabs
The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity.
Human molecular genetics 2008;17(14):2172-80.
2007: Morten Duno; Flemming Skovby; Marianne Schwartz
Leukocyte cDNA analysis of NSD1 derived from confirmed Sotos syndrome patients.
Annals of human genetics 2007;71(Pt 6):713-8.
2007: Anne-Marie Bisgaard; Maria Kirchhoff; Jens Erik Nielsen; Carsten Brandt; Hanne Hove; Birgit Jepsen; Tim Jensen; Reinhard Ullmann; Flemming Skovby
Transmitted cytogenetic abnormalities in patients with mental retardation: pathogenic or normal variants?
European journal of medical genetics 2007;50(4):243-55.
2007: Allan Meldgaard Lund; F Joensen; David M Hougaard; L K Jensen; Ernst Christensen; M Christensen; B Nørgaard-Petersen; Marianne Schwartz; Flemming Skovby
Carnitine transporter and holocarboxylase synthetase deficiencies in The Faroe Islands.
Journal of inherited metabolic disease 2007;30(3):341-9.
2007: M Christensen; Morten Duno; Allan Meldgaard Lund; Flemming Skovby; Ernst Christensen
Xanthurenic aciduria due to a mutation in KYNU encoding kynureninase.
Journal of inherited metabolic disease 2007;30(2):248-55.
2007: Petr Vyletal; Jitka Sokolová; David N Cooper; Jan P Kraus; Michael Krawczak; Guglielmina Pepe; Olga Rickards; Hans Georg Koch; Michael Linnebank; Leo A J Kluijtmans; Henk J Blom; Godfried H J Boers; Mette Gaustadnes; Flemming Skovby; Bridget Wilcken; David E L Wilcken; Generoso Andria; Gianfranco Sebastio; Eileen Naughten; Sufin Yap; Toshihiro Ohura; Ewa Pronicka; Aranka Laszlo; Viktor Kozich
Diversity of cystathionine beta-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversion.
Human mutation 2007;28(3):255-64.
2007: Anne-Marie Bisgaard Pedersen; Flemming Skovby
[Molecular diagnosis of CHARGE syndrom].
Ugeskrift for laeger 2007;169(5):402-6.
2006: Anne-Marie Bisgaard; Maria Kirchhoff; Zeynep Tümer; Birgit Jepsen; Karen Brøndum-Nielsen; Monika Cohen; Bente Hamborg-Petersen; Thue Bryndorf; Niels Tommerup; Flemming Skovby
Additional chromosomal abnormalities in patients with a previously detected abnormal karyotype, mental retardation, and dysmorphic features.
American journal of medical genetics. Part A 2006;140(20):2180-7.
2006: Allan Meldgaard Lund; Flemming Skovby
[Optimising treatment for people with rare diseases].
Ugeskrift for laeger 2006;168(15):1547-50.
2005: Nanna Dahl Rendtorff; Bolette Bjerregaard; Morten Frödin; Susanne Kjaergaard; Hanne Hove; Flemming Skovby; Karen Brøndum-Nielsen; Marianne Schwartz
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.
Human mutation 2005;26(4):374-83.
2005: Robert Kleta; Frederick J Kaskel; Ranjan Dohil; Paul Goodyer; Lisa M Guay-Woodford; Erik Harms; Julie R Ingelfinger; Vera H Koch; Craig B Langman; Mary B Leonard; Roslyn B Mannon; Minnie M Sarwal; Jerry A Schneider; Flemming Skovby; Barbara C Sonies; Jess G Thoene; Doris A Trauner; William A Gahl
First NIH/Office of Rare Diseases Conference on Cystinosis: past, present, and future.
Pediatric nephrology (Berlin, Germany) 2005;20(4):452-4.
2005: Rikke K J Olsen; Brage S Andresen; Ernst Christensen; Hanna Mandel; Flemming Skovby; Jens Peter Nielsen; Inga Knudsen; Christine Vianey-Saban; Henrik Simonsen; Niels Gregersen
DNA-based prenatal diagnosis for severe and variant forms of multiple acyl-CoA dehydrogenation deficiency.
Prenatal diagnosis 2005;25(1):60-4.
2004: Peter J Meikle; Enzo Ranieri; Henrik Simonsen; Tina Rozaklis; Steven L Ramsay; Phillip D Whitfield; Maria Fuller; Ernst Christensen; Flemming Skovby; John J Hopwood
Newborn screening for lysosomal storage disorders: clinical evaluation of a two-tier strategy.
Pediatrics 2004;114(4):909-16.
2003: René Santer; Martina Kinner; Christoph L Lassen; Reinhard Schneppenheim; Paul Eggert; Martin Bald; Johannes Brodehl; Markus Daschner; Jochen H H Ehrich; Markus Kemper; Salvatore Li Volti; Thomas Neuhaus; Flemming Skovby; P G F Swift; Jürgen Schaub; Dan Klaerke
Molecular analysis of the SGLT2 gene in patients with renal glucosuria.
Journal of the American Society of Nephrology : JASN 2003;14(11):2873-82.
2003: Rikke K J Olsen; Brage S Andresen; Ernst Christensen; Peter Bross; Flemming Skovby; Niels Gregersen
Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency.
Human mutation 2003;22(1):12-23.
2002: Allan Meldgaard Lund; Flemming Skovby
[Treatment of inborn metabolic disorders].
Ugeskrift for laeger 2002;164(48):5619-23.
2002: Allan Meldgaard Lund; Ernst Christensen; Flemming Skovby
[Diagnosis and acute treatment of inborn metabolic diseases in infants].
Ugeskrift for laeger 2002;164(48):5613-9.
2002: Susanne Kjaergaard; Jørn Müller; Flemming Skovby
Prepubertal growth in congenital disorder of glycosylation type Ia (CDG-Ia).
Archives of disease in childhood 2002;87(4):324-7.
2002: Stefanie Katzke; Patrick Booms; Frank Tiecke; Monika Palz; Angelika Pletschacher; Seval Türkmen; Luitgard M Neumann; Reinhard Pregla; Christa Leitner; Cornelia Schramm; Peter Lorenz; Christian Hagemeier; Josefine Fuchs; Flemming Skovby; Thomas Rosenberg; Peter Robinson
TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies.
Human mutation 2002;20(3):197-208.
2002: Robert Kleta; Flemming Skovby; Ernst Christensen; Thomas Rosenberg; William A Gahl; Yair Anikster
3-Methylglutaconic aciduria type III in a non-Iraqi-Jewish kindred: clinical and molecular findings.
Molecular genetics and metabolism 2002;76(3):201-6.
2002: Kenneth N Maclean; Mette Gaustadnes; Jana Oliveriusová; Miroslav Janosík; Eva Kraus; Viktor Kozich; Vladimir Kery; Flemming Skovby; Niels Rüdiger; Jørgen Ingerslev; Sally P Stabler; Robert H Allen; Jan P Kraus
High homocysteine and thrombosis without connective tissue disorders are associated with a novel class of cystathionine beta-synthase (CBS) mutations.
Human mutation 2002;19(6):641-55.
2002: Kim Fleischer Michaelsen; Jørn Dyerberg; Erling Falk; Harald Hansen; Peter Marckmann; Ole Kim Overvad; Lene Schack-Nielsen; Flemming Skovby; Keld E Sørensen
[Children, fat and cardiovascular diseases].
Ugeskrift for laeger 2002;164(10):1334-8.
2002: René Santer; Sebastian Groth; Martina Kinner; Anja Dombrowski; Gerard T Berry; Johannes Brodehl; James V Leonard; Shimon Moses; Svante Norgren; Flemming Skovby; Reinhard Schneppenheim; Beat Steinmann; Jürgen Schaub
The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome.
Human genetics 2002;110(1):21-9.
2001: Susanne Kjaergaard; Marianne Schwartz; Flemming Skovby
Congenital disorder of glycosylation type Ia (CDG-Ia): phenotypic spectrum of the R141H/F119L genotype.
Archives of disease in childhood 2001;85(3):236-9.
2001: UG Jensen; NJ Brandt; Ernst Christensen; Flemming Skovby; Bent Nørgaard-Pedersen; Henrik Simonsen
Neonatal screening for galactosemia by quantitative analysis of hexose monophosphates using tandem mass spectrometry: a retrospective study.
Clinical chemistry 2001;47(8):1364-72.
2001: René Santer; Martina Kinner; U Steuerwald; Susanne Kjaergaard; Flemming Skovby; Henrik Simonsen; W L Shaiu; Y T Chen; Reinhard Schneppenheim; Jürgen Schaub
Molecular genetic basis and prevalence of glycogen storage disease type IIIA in the Faroe Islands.
European journal of human genetics : EJHG 2001;9(5):388-91.
2001: Vibeke Westphal; Susanne Kjaergaard; Joseph A Davis; S M Peterson; Flemming Skovby; Hudson H Freeze
Genetic and metabolic analysis of the first adult with congenital disorder of glycosylation type Ib: long-term outcome and effects of mannose supplementation.
Molecular genetics and metabolism 2001;73(1):77-85.
2001: Flemming Skovby; Jørn Dyerberg; E Nexø; M Osler; Klaus Rasmussen; Steen Stender
[Homocysteine and cardiovascular disease].
Ugeskrift for laeger 2001;163(13):1830-3.
2001: Frank Tiecke; Stefanie Katzke; Patrick Booms; Peter Robinson; Luitgard Neumann; M Godfrey; K R Mathews; M Scheuner; Georg Klaus Hinkel; R E Brenner; H H Hövels-Gürich; Christian Hagemeier; Josefine Fuchs; Flemming Skovby; Thomas Rosenberg
Classic, atypically severe and neonatal Marfan syndrome: twelve mutations and genotype-phenotype correlations in FBN1 exons 24-40.
European journal of human genetics : EJHG 2001;9(1):13-21.
2000: Brage S Andresen; Ernst Christensen; Thomas J Corydon; Peter Bross; B Pilgaard; Ronald J A Wanders; Jos P N Ruiter; Henrik Simonsen; Vibeke Winter; Inga Knudsen; Lisbeth Dahl Schroeder; Niels Gregersen; Flemming Skovby
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.
American journal of human genetics 2000;67(5):1095-103.
2000: Kirstine Ravn; Maria Chloupkova; Ernst Christensen; NJ Brandt; Henrik Simonsen; Jan P Kraus; I M Nielsen; Flemming Skovby; Marianne Schwartz
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.
American journal of human genetics 2000;67(1):203-6.
2000: Monika Palz; Frank Tiecke; Patrick Booms; B Göldner; Thomas Rosenberg; Josefine Fuchs; Flemming Skovby; Hardy - Schumacher; UC Kaufmann; Yskert von Kodolitsch; C A Nienaber; C Leitner; Stefanie Katzke; B Vetter; Christian Hagemeier; Peter Robinson
Clustering of mutations associated with mild Marfan-like phenotypes in the 3' region of FBN1 suggests a potential genotype-phenotype correlation.
American journal of medical genetics 2000;91(3):212-21.
2000: Allan Meldgaard Lund; Flemming Skovby; F U Knudsen
[Child abuse and osteogenesis imperfecta. How do we distinguish?].
Ugeskrift for laeger 2000;162(11):1528-33.
2000: Jytte Bieber Nielsen; Flemming Skovby
[Rett syndrome: congenital defect of a transcription inhibitory protein].
Ugeskrift for laeger 2000;162(5):672.
1999: Susanne Kjaergaard; Flemming Skovby; Marianne Schwartz
Carbohydrate-deficient glycoprotein syndrome type 1A: expression and characterisation of wild type and mutant PMM2 in E. coli.
European journal of human genetics : EJHG 1999;7(8):884-8.
1999: Allan Meldgaard Lund; C Mølgaard; Jørn Müller; Flemming Skovby
Bone mineral content and collagen defects in osteogenesis imperfecta.
Acta paediatrica (Oslo, Norway : 1992) 1999;88(10):1083-8.
1999: Allan Meldgaard Lund; Jørn Müller; Flemming Skovby
Anthropometry of patients with osteogenesis imperfecta.
Archives of disease in childhood 1999;80(6):524-8.
1999: Henrik Simonsen; Bent Nørgaard-Pedersen; Flemming Skovby
[Information to health personnel on increased examination of inborn metabolic errors in newborn infants].
Ugeskrift for laeger 1999;161(9):1281.
1999: Henrik Simonsen; UG Jensen; NJ Brandt; Ernst Christensen; Flemming Skovby; Bent Nørgaard-Pedersen
Design of a pilot study to evaluate tandem mass spectrometry for neonatal screening.
The Southeast Asian journal of tropical medicine and public health 1999;30 Suppl 2():166-9.
1999: Allan Meldgaard Lund; Eva Aström; Stefan Söderhäll; Marianne Schwartz; Flemming Skovby
Osteogenesis imperfecta: mosaicism and refinement of the genotype-phenotype map in OI type III. Mutations in brief no. 242. Online.
Human mutation 1999;13(6):503.
1998: Flemming Skovby
[Treatment of hereditary and malignant diseases by regulating genetic transcription?].
Ugeskrift for laeger 1998;160(51):7447.
1998: Susanne Kjaergaard; Niels Graem; T Larsen; Flemming Skovby
Recurrent fetal polycystic kidneys associated with glutaric aciduria type II.
APMIS : acta pathologica, microbiologica, et immunologica Scandinavica 1998;106(12):1188-93.
1998: Allan Meldgaard Lund; M Hansen; G Kollerup; Anders Juul; B Teisner; Flemming Skovby
Collagen-derived markers of bone metabolism in osteogenesis imperfecta.
Acta paediatrica (Oslo, Norway : 1992) 1998;87(11):1131-7.
1998: Susanne Kjaergaard; Bengt Kristiansson; Helena Stibler; Hudson H Freeze; Marianne Schwartz; Tommy Martinsson; Flemming Skovby
Failure of short-term mannose therapy of patients with carbohydrate-deficient glycoprotein syndrome type 1A.
Acta paediatrica (Oslo, Norway : 1992) 1998;87(8):884-8.
1998: Susanne Kjaergaard; Flemming Skovby; Marianne Schwartz
Absence of homozygosity for predominant mutations in PMM2 in Danish patients with carbohydrate-deficient glycoprotein syndrome type 1.
European journal of human genetics : EJHG 1998;6(4):331-6.
1998: Allan Meldgaard Lund; B L Jensen; L A Nielsen; Flemming Skovby
Dental manifestations of osteogenesis imperfecta and abnormalities of collagen I metabolism.
Journal of craniofacial genetics and developmental biology 1998;18(1):30-7.
1997: K Panneerselvam; JR Etchison; Flemming Skovby; Hudson H Freeze
Abnormal metabolism of mannose in families with carbohydrate-deficient glycoprotein syndrome type 1.
Biochemical and molecular medicine 1997;61(2):161-7.
1997: Allan Meldgaard Lund; A C Nicholls; Marianne Schwartz; Flemming Skovby
Parental mosaicism and autosomal dominant mutations causing structural abnormalities of collagen I are frequent in families with osteogenesis imperfecta type III/IV.
Acta paediatrica (Oslo, Norway : 1992) 1997;86(7):711-8.
1997: Gordon Alton; Susanne Kjaergaard; JR Etchison; Flemming Skovby; Hudson H Freeze
Oral ingestion of mannose elevates blood mannose levels: a first step toward a potential therapy for carbohydrate-deficient glycoprotein syndrome type I.
Biochemical and molecular medicine 1997;60(2):127-33.
1997: Cecilia Bjursell; Helena Stibler; Jan Wahlström; Bengt Kristiansson; Flemming Skovby; P Strömme; G Blennow; Tommy Martinsson
Fine mapping of the gene for carbohydrate-deficient glycoprotein syndrome, type I (CDG1): linkage disequilibrium and founder effect in Scandinavian families.
Genomics 1997;39(3):247-53.
1997: Allan Meldgaard Lund; Flemming Skovby; M Schwartz
(G586V) substitutions in the alpha 1 and alpha 2 chains of collagen I: effect of alpha-chain stoichiometry on the phenotype of osteogenesis imperfecta?
Human mutation 1997;9(5):431-6.
1997: Allan Meldgaard Lund; Flemming Skovby; Marianne Schwartz
Serine for glycine substitutions in the C-terminal third of the alpha 1(I) chain of collagen I in five patients with nonlethal osteogenesis imperfecta.
Human mutation 1997;9(4):378-82.
1996: Allan Meldgaard Lund; Marianne Schwartz; Flemming Skovby
Variable clinical expression in a family with OI type IV due to deletion of three base pairs in COL1A1.
Clinical genetics 1996;50(5):304-9.
1996: Allan Meldgaard Lund; Marianne Schwartz; Flemming Skovby
Genetic counselling and prenatal diagnosis of osteogenesis imperfecta caused by paternal mosaicism.
Prenatal diagnosis 1996;16(11):1032-8.
1996: Flemming Skovby; Henrik Hertz
[Fibroblast growth factors, their receptors and congenital diseases].
Ugeskrift for laeger 1996;158(20):2865.
1996: Allan Meldgaard Lund; Flemming Skovby; Marianne Schwartz
Deletion of a Gly-Pro-Pro repeat in the pro alpha2(I) chain of procollagen I in a family with dominant osteogenesis imperfecta type IV.
Human genetics 1996;97(3):287-90.
1996: Marianne Schwartz; S Kreiborg; Flemming Skovby
First-trimester prenatal diagnosis of Crouzon syndrome.
Prenatal diagnosis 1996;16(2):155-8.
1996: Allan Meldgaard Lund; Marianne Schwartz; Michael Raghunath; Beat Steinmann; Flemming Skovby
Gly802Asp substitution in the pro alpha 2(I) collagen chain in a family with recurrent osteogenesis imperfecta due to paternal mosaicism.
European journal of human genetics : EJHG 1996;4(1):39-45.
1994: NJ Brandt; Marianne Schwartz; Flemming Skovby
[Screening for carriers of cystic fibrosis. Result of a pilot study among pregnant women].
Ugeskrift for laeger 1994;156(25):3751-4, 3757.
1994: Allan Meldgaard Lund; Flemming Skovby
[Neurofibromatosis type 1 in children].
Ugeskrift for laeger 1994;156(21):3180-2.
1994: B S Jepsen; S Micic; B Hansen; S O Larsen; B N Pedersen; Flemming Skovby
[Screening of school children for familial hypercholesterolemia].
Ugeskrift for laeger 1994;156(13):1962-4.
1993: Flemming Skovby; J Dyerberg; O Faergeman; Torben Haghfelt; T J Jensen; A Leth; BM Sigurd; S Stender; M A Vittrup
[Hyperlipidemia in children].
Ugeskrift for laeger 1993;155(11):810-4.
1993: Preben Kirkegaard; A Hjortrup; S Keiding; Flemming Skovby; E Hage; Niels H Secher; Lars Heslet
[Liver transplantation in Denmark. First-year experiences].
Ugeskrift for laeger 1993;155(10):684-7.
1993: Marianne Schwartz; N J Brandt; Flemming Skovby
Screening for carriers of cystic fibrosis among pregnant women: a pilot study.
European journal of human genetics : EJHG 1993;1(3):239-44.
1992: D Hansen; Kim Fleischer Michaelsen; Flemming Skovby
Growth during treatment of familial hypercholesterolemia.
Acta paediatrica (Oslo, Norway : 1992) 1992;81(12):1023-5.
1991: Allan Meldgaard Lund; Flemming Skovby
Optic gliomas in children with neurofibromatosis type 1.
European journal of pediatrics 1991;150(12):835-8.
1991: Flemming Skovby; S Micic; B Jepsen; S O Larsen; B Hansen; L Tegllund; B N Pedersen
Screening for familial hypercholesterolaemia by measurement of apolipoproteins in capillary blood.
Archives of disease in childhood 1991;66(7):844-7.
1991: NJ Brandt; Marianne Schwartz; Flemming Skovby
[Orientation on genetic screening for cystic fibrosis].
Ugeskrift for laeger 1991;153(19):1365-8.
1990: J Dyerberg; S Stender; G E Andersen; O Faergeman; Torben Haghfelt; T Hviid; T J Jensen; A Leth; BM Sigurd; Flemming Skovby
[Recommendations for clinical-chemical departments: lipid-lipoprotein analysis].
Ugeskrift for laeger 1990;152(20):1434-7.