Zobrazeno 1 - 10
of 101
pro vyhledávání: '"Flemming, Skovby"'
Autor:
Lisa Travis, MD, Janie Ou Yang, BE, Rune Kjærsgaard Andersen, MD, PhD, Flemming Skovby, DMSc, MD, Gregor B.E. Jemec, MD, PhD, Ditte M. Saunte, MD, PhD
Publikováno v:
JAAD Case Reports, Vol 38, Iss , Pp 158-162 (2023)
Externí odkaz:
https://doaj.org/article/a9cff418451548179000e4cb4f5afc56
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 15, Iss , Pp 6-10 (2018)
Inborn errors of metabolism (IEM) are a heterogeneous group of genetic disorders present in all ethnic groups. We investigated the frequency of consanguinity among parents of newborns with IEM diagnosed by neonatal screening.Data were obtained from 1
Externí odkaz:
https://doaj.org/article/f171be3b1a3046459428075c8e108ff5
Autor:
Flemming Skovby, Nille Behrendt, Ditte Marie Saunte, Thanusha Srikantharajah, Gregor B.E. Jemec
Publikováno v:
Acta dermatovenerologica Alpina, Pannonica, et Adriatica. 29(3)
Brooke-Spiegler syndrome (BSS) is a rare inherited autosomal dominant disease characterized by the development of multiple adnexal cutaneous neoplasms. BSS has been linked to mutations in CYLD gene, which is a tumor suppressor gene located on chromos
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23115de9869450e0af09c51bb205ef71
https://pubmed.ncbi.nlm.nih.gov/32975300
https://pubmed.ncbi.nlm.nih.gov/32975300
Autor:
Allan, Lund, Flemming, Wibrand, Kristin, Skogstrand, Arieh, Cohen, Mette, Christensen, Rie Bak, Jäpelt, Morten, Dunø, Flemming, Skovby, Bent, Nørgaard-Pedersen, Niels, Gregersen, Brage Storstein, Andresen, Rikke Katrine Jentoft, Olsen, David, Hougaard
Publikováno v:
Danish medical journal. 67(1)
Newborn screening is a public health programme for early diagnosis of treatable diseases.The subjects included were newborns born 2002-2019. Expanded newborn screening (eNBS) for metabolic diseases was introduced as a pilot project from 2002 to 2009,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::5d83c42543f9534b44100d910ae1b281
https://pubmed.ncbi.nlm.nih.gov/31908255
https://pubmed.ncbi.nlm.nih.gov/31908255
Autor:
Min-Ji Charng, Evan A. Stein, Flemming Skovby, Daniel Gaudet, Mafauzy Mohamed, Etienne Sokal, Mattias Sundén, Joel S. Raichlen, Frederick J. Raal, Stefan Carlsson, John J.P. Kastelein, Albert Wiegman, Ilse K. Luirink, Eldad J. Dann
Publikováno v:
Journal of the American College of Cardiology, 70(9), 1162-1170. Elsevier USA
BACKGROUND Homozygous familial hypercholesterolemia (HoFH), a rare genetic disorder, is characterized by extremely elevated levels of low-density lipoprotein cholesterol (LDL-C) and accelerated atherosclerotic cardiovascular disease. Statin treatment
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::789bef86c080e55d4355ab5fff583b10
https://doi.org/10.1016/j.jacc.2017.06.058
https://doi.org/10.1016/j.jacc.2017.06.058
Autor:
David Watkins, Abigail Watson, Hung-Chun Yu, Tomi Pastinen, Anita M. Quintana, Warren A. Cheung, Shu-Huang Chen, Mihaela Pupavac, Victoria L. Castro, Flemming Skovby, Elizabeth A. Geiger, Alison Brebner, Tamim H. Shaikh, Bruce Appel, David S. Rosenblatt
Publikováno v:
Human Molecular Genetics. 26:2838-2849
CblX (MIM309541) is an X-linked recessive disorder characterized by defects in cobalamin (vitamin B12) metabolism and other developmental defects. Mutations in HCFC1, a transcriptional co-regulator which interacts with multiple transcription factors,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8b8aeeea8544c59285fc7d2cffa4f6b
https://doi.org/10.1093/hmg/ddx157
https://doi.org/10.1093/hmg/ddx157
Publikováno v:
Clinical Genetics. 89:346-350
The Danish sperm donor number 7042 has fathered several offspring with neurofibromatosis type 1 (NF1) worldwide. NF1 is caused by loss-of-function mutations in the NF1 gene and more than 1000 NF1 mutations are identified. Analysis of the donor sperm
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::134c1ff168308843df22a9a14f10b6dc
https://doi.org/10.1111/cge.12600
https://doi.org/10.1111/cge.12600
Autor:
Elsebet, Østergaard, Lotte, Risom, Jakob, Ek, Sabine, Grønborg, Morten, Dunø, Flemming, Skovby
Publikováno v:
Ugeskrift for laeger. 179(17)
The majority of rare congenital disorders and syndromes have a genetic cause, but the diagnostic rate using standard workup is only around 50%. Whole exome and whole genome sequencing methods have improved the genetic diagnosis of syndromes during th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::5948eb8926a7a0e2fcce39aa012194ff
https://pubmed.ncbi.nlm.nih.gov/28473029
https://pubmed.ncbi.nlm.nih.gov/28473029
Autor:
Sofie Symoens, Marcella Greco, Francesco Emma, François Nobili, Koen Desmet, Elisabeth A.M. Cornelissen, Lambertus van den Heuvel, Elena Levtchenko, Fransiska Malfait, Marc R. Lilien, Jerry A. Schneider, Anne De Paepe, Mirian C. H. Janssen, Flemming Skovby, Martine T.P. Besouw
Publikováno v:
Journal of Pediatrics, 163, 3, pp. 754-60
Journal of Pediatrics, 163, 754-60
Journal of Pediatrics, 163(3), 754-760. MOSBY-ELSEVIER
Journal of Pediatrics, 163, 754-60
Journal of Pediatrics, 163(3), 754-760. MOSBY-ELSEVIER
Item does not contain fulltext OBJECTIVES: To assess whether copper deficiency plays a role in the recently described cysteamine toxicity in patients with cystinosis, and to examine whether polymorphisms in copper transporters, lysyl oxidase, and/or
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e2f3195e7aa10589c5bb81c66fd265be
https://doi.org/10.1016/j.jpeds.2013.03.078
https://doi.org/10.1016/j.jpeds.2013.03.078
Autor:
Lars Køber, Birgitte Rode Diness, Ole Havndrup, Michael Christiansen, Anna Axelsson, Morten Kvistholm Jensen, Henning Bundgaard, Paal Skytt Andersen, Flemming Skovby
Publikováno v:
Circulation. 127:48-54
Background— The penetrance of hypertrophic cardiomyopathy (HCM) during childhood and adolescence has been only sparsely described. We studied the penetrance of HCM and the short- and long-term outcomes of clinical screening and predictive genetic t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::effd953ba5963c99648d0eadf12c501e
https://doi.org/10.1161/circulationaha.111.090514
https://doi.org/10.1161/circulationaha.111.090514