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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 criter...
Author / Creator:Vega, H ; Trainer, A H ; Gordillo, M ; Crosier, M ; Kayserili, H ; Skovby, F ; Uzielli, M L Giovannucci ; Schnur, R E ; Manouvrier, S ; Blair, E ; Hurst, J A ; Forzano, F ; Meins, M ; Simola, K O J ; Raas-Rothschild, A ; Hennekam, R C M ; Jabs, E Wang
Publisher:England: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2010-01, Vol.47 (1), p.30-37
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FGFR3 Mutations and the Skin: Report of a Patient with a FGFR3 Gene Mutation, Acanthosis Nigricans, Hypochondroplasia and Hyperinsulinemia and Review of the Literature
Author / Creator:Blomberg, M. ; Jeppesen, E.M. ; Skovby, F. ; Benfeldt, E.
Publisher:Basel, Switzerland: Karger
Journal title:Dermatology (Basel), 2010-01, Vol.220 (4), p.297-305
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Carnitine transporter and holocarboxylase synthetase deficiencies in The Faroe Islands
Author / Creator:Lund, A. M ; Joensen, F ; Hougaard, D. M ; Jensen, L. K ; Christensen, E ; Christensen, M ; Nørgaard-Petersen, B ; Schwartz, M ; Skovby, F
Publisher:Dordrecht: Dordrecht : Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2007-06, Vol.30 (3), p.341-349
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Xanthurenic aciduria due to a mutation in KYNU encoding kynureninase
Author / Creator:Christensen, M. ; Duno, M. ; Lund, A. M. ; Skovby, F. ; Christensen, E.
Publisher:Dordrecht: Kluwer Academic Publishers
Journal title:Journal of inherited metabolic disease, 2007-04, Vol.30 (2), p.248-255
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Anthropometry of patients with osteogenesis imperfecta
Author / Creator:Lund, Allan M ; Müller, Jørn ; Skovby, Flemming
Publisher:London: BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health
Journal title:Archives of disease in childhood, 1999-06, Vol.80 (6), p.524-528
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Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency
Author / Creator:Olsen, Rikke K.J. ; Andresen, Brage S. ; Christensen, Ernst ; Bross, Peter ; Skovby, Flemming ; Gregersen, Niels
Publisher:Hoboken: Wiley Subscription Services, Inc., A Wiley Company
Journal title:Human mutation, 2003-07, Vol.22 (1), p.12-23
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Congenital disorder of glycosylation type Ia (CDG-Ia): phenotypic spectrum of the R141H/F119L genotype
Author / Creator:Kjaergaard, S ; Schwartz, M ; Skovby, F
Publisher:London: BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health
Journal title:Archives of disease in childhood, 2001-09, Vol.85 (3), p.236-239
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Screening for familial hypercholesterolaemia by measurement of apolipoproteins in capillary blood
Author / Creator:Skovby, F ; Micic, S ; Jepsen, B ; Larsen, S O ; Hansen, B ; Tegllund, L ; Pedersen, B N
Publisher:London: BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health
Journal title:Archives of disease in childhood, 1991-07, Vol.66 (7), p.844-847
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Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome
Author / Creator:van Bokhoven, Hans ; Celli, Jacopo ; Kayserili, Hülya ; van Beusekom, Ellen ; Balci, Sevim ; Brussel, Wim ; Skovby, Flemming ; Kerr, Bronwyn ; Percin, E. Ferda ; Akarsu, Nurten ; Brunner, Han G.
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2000-08, Vol.25 (4), p.423-426
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Newborn Screening for Lysosomal Storage Disorders: Clinical Evaluation of a Two-Tier Strategy
Author / Creator:Meikle, Peter J ; Ranieri, Enzo ; Simonsen, Henrik ; Rozaklis, Tina ; Ramsay, Steve L ; Whitfield, Phillip D ; Fuller, Maria ; Christensen, Ernst ; Skovby, Flemming ; Hopwood, John J
Publisher:Elk Grove Village, IL: Am Acad Pediatrics
Journal title:Pediatrics (Evanston), 2004-10, Vol.114 (4), p.909-916
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Prepubertal growth in congenital disorder of glycosylation type la
Author / Creator:Kjaergaard, S ; Muller, J ; Skovby, F
Publisher:BMJ Publishing Group Ltd
Journal title:Archives of disease in childhood, 2002-10, Vol.87 (4), p.324
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The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome
Author / Creator:SANTER, René ; GROTH, Sebastian ; SCHNEPPENHEIM, Reinhard ; STEINMANN, Beat ; SCHAUB, Jürgen ; KINNER, Martina ; DOMBROWSKI, Anja ; BERRY, Gerard T ; BRODEHL, Johannes ; LEONARD, James V ; MOSES, Shimon ; NORGREN, Svante ; SKOVBY, Flemming
Publisher:Heidelberg: Springer
Journal title:Human genetics, 2002, Vol.110 (1), p.21-29
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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
Author / Creator:Rendtorff, Nanna D. ; Bjerregaard, Bolette ; Frödin, Morten ; Kjaergaard, Susanne ; Hove, Hanne ; Skovby, Flemming ; Brøndum-Nielsen, Karen ; Schwartz, Marianne
Publisher:Hoboken: Wiley Subscription Services, Inc., A Wiley Company
Journal title:Human mutation, 2005-10, Vol.26 (4), p.374-383
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Causality of myelodysplasia and acute myeloid leukemia and their genetic abnormalities
Author / Creator:PEDERSEN-BJERGAARD, J ; CHRISTIANSEN, D. H ; ANDERSEN, M. K ; SKOVBY, F
Publisher:London: Nature Publishing
Journal title:Leukemia, 2002-11, Vol.16 (11), p.2177-2184
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Prepubertal growth in congenital disorder of glycosylation type Ia (CDG-Ia)
Author / Creator:Kjaergaard, S ; Müller, J ; Skovby, F
Publisher:London: BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health
Journal title:Archives of disease in childhood, 2002-10, Vol.87 (4), p.324-327
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Classic, atypically severe and neonatal Marfan syndrome: twelve mutations and genotype-phenotype correlations in FBN1 exons 24-40
Author / Creator:Tiecke, F ; Katzke, S ; Booms, P ; Robinson, P N ; Neumann, L ; Godfrey, M ; Mathews, K R ; Scheuner, M ; Hinkel, G K ; Brenner, R E ; Hövels-Gürich, H H ; Hagemeier, C ; Fuchs, J ; Skovby, F ; Rosenberg, T
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2001-01, Vol.9 (1), p.13-21
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TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies
Author / Creator:Katzke, Stefanie ; Booms, Patrick ; Tiecke, Frank ; Palz, Monika ; Pletschacher, Angelika ; Türkmen, Seval ; Neumann, Luitgard M. ; Pregla, Reinhard ; Leitner, Christa ; Schramm, Cornelia ; Lorenz, Peter ; Hagemeier, Christian ; Fuchs, Josefine ; Skovby, Flemming ; Rosenberg, Thomas ; Robinson, Peter N.
Publisher:New York: Wiley Subscription Services, Inc., A Wiley Company
Journal title:Human mutation, 2002-09, Vol.20 (3), p.197-208
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High homocysteine and thrombosis without connective tissue disorders are associated with a novel class of cystathionine β-synthase (CBS) mutations
Author / Creator:Maclean, Kenneth N. ; Gaustadnes, Mette ; Oliveriusová, Jana ; Janošík, Miroslav ; Kraus, Eva ; Kožich, Viktor ; Kery, Vladimír ; Skovby, Flemming ; Rüdiger, Niels ; Ingerslev, Jørgen ; Stabler, Sally P. ; Allen, Robert H. ; Kraus, Jan P.
Publisher:New York: Wiley Subscription Services, Inc., A Wiley Company
Journal title:Human mutation, 2002-06, Vol.19 (6), p.641-655
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Phenotypic variability in 49 cases of ESC02 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criter...
Author / Creator:VEGA, H ; TRAINER, A. H ; HURST, J. A ; FORZANO, F ; MEINS, M ; SIMOLA, K. O. J ; RAAS-ROTHSCHILD, A ; HENNEKAM, R. C. M ; JABS, E. Wang ; GORDILLO, M ; CROSIER, M ; KAYSERILI, H ; SKOVBY, F ; GIOVANNUCCI UZIELLI, M. L ; SCHNUR, R. E ; MANOUVRIER, S ; BLAIR, E
Publisher:London: BMJ Publishing Group
Journal title:Journal of medical genetics, 2010, Vol.47 (1), p.30-37
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Molecular genetic basis and prevalence of glycogen storage disease type IIIA in the Faroe Islands
Author / Creator:Santer, René ; Kinner, Martina ; Steuerwald, Ulrike ; Kjærgaard, Susanne ; Skovby, Flemming ; Simonsen, Henrik ; Shaiu, Wen-Ling ; Chen, Yuan-Tsong ; Schneppenheim, Reinhard ; Schaub, Jürgen
Publisher:Cham: Springer International Publishing
Journal title:European journal of human genetics : EJHG, 2001-05, Vol.9 (5), p.388-391
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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 criter...

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FGFR3 Mutations and the Skin: Report of a Patient with a FGFR3 Gene Mutation, Acanthosis Nigricans, Hypochondroplasia and Hyperinsulinemia and Review of the Literature

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Carnitine transporter and holocarboxylase synthetase deficiencies in The Faroe Islands

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Xanthurenic aciduria due to a mutation in KYNU encoding kynureninase

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Anthropometry of patients with osteogenesis imperfecta

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

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Congenital disorder of glycosylation type Ia (CDG-Ia): phenotypic spectrum of the R141H/F119L genotype

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Screening for familial hypercholesterolaemia by measurement of apolipoproteins in capillary blood

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

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Newborn Screening for Lysosomal Storage Disorders: Clinical Evaluation of a Two-Tier Strategy

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Prepubertal growth in congenital disorder of glycosylation type la

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

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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

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Causality of myelodysplasia and acute myeloid leukemia and their genetic abnormalities

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

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

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

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

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Phenotypic variability in 49 cases of ESC02 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criter...

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

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