Search Results - "Jakobsen, L. P."

Genetic studies in congenital anterior midline cervical cleft by Jakobsen, L.P., Pfeiffer, P., Andersen, M., Eiberg, H., Hansen, L., Mang, Y., Bak, M., Møller, R.S., Klitten, L.L., Tommerup, N.

“…Congenital anterior midline cervical cleft (CAMCC) is a rare anomaly, with less than 100 cases reported. The cause of CAMCC is unknown, but genetic factors…”
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Prenatal detection of orofacial clefts in Denmark from 2009 to 2018 by Sander, F. H., Jørgensen, D. S., Jakobsen, L. P., Jensen, A. N., Lousen, T., Sandager, P., Sperling, L., Vogel, I., Petersen, O. B., Vedel, C., Andreasen, Rie, Fabricius, Mette Hvilshøj, Farlie, Richard, Ibsen, Mette Holm, Juul, Susanne, Mogensen, Helle, Nørgaard, Pernille, Roslev, Anne Cathrine, Rugaard, Marie Bender, Schroeter, Wiebke, Zingenberg, Helle, Vang Østergård, Marianne Louise

“…ABSTRACT Objective To investigate the overall and type‐specific prenatal detection rates (DRs) of orofacial clefts in a national cohort in Denmark. Methods…”
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Pierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2 by Jakobsen, Linda P, Ullmann, Reinhard, Christensen, Steen B, Jensen, Karl Erik, Mølsted, Kirsten, Henriksen, Karen F, Hansen, Claus, Knudsen, Mary A, Larsen, Lars A, Tommerup, Niels, Tümer, Zeynep

“…Background: The Pierre Robin sequence (PRS), consisting of cleft palate, micrognathia and glossoptosis, can be seen as part of the phenotype in other Mendelian…”
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The Genetic Basis of the Pierre Robin Sequence by Jakobsen, Linda P., Knudsen, Mary A., Lespinasse, James, García Ayuso, Carmen, Ramos, Carmen, Fryns, Jean-Pierre, Bugge, Merete, Tommerup, Niels

“…Objective The Pierre Robin Sequence (PRS) is subgroup of the cleft palate population. As with the etiology of cleft lip or palate, the etiology of PRS is…”
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Surgical treatment of hypernasality in Denmark by Jakobsen, L P, Andersen, M, Bau, A, Jønsson, B

“…A palatopharyngoplasty is a widely used operation performed to diminish hypernasality. The purpose of this study was to assess the results of the…”
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Spontaneous infrapatellar tendon rupture in a patient with systemic lupus erythematosus by Jakobsen, L P, Knudsen, T B, Bloch, T

“…A case is described of a 33-year old woman with systemic lupus erythematosus (SLE) in longterm treatment with corticosteroids who experienced spontaneous…”
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Blood-brain barrier permeability of glucose and ketone bodies during short-term starvation in humans by Hasselbalch, S G, Knudsen, G M, Jakobsen, J, Hageman, L P, Holm, S, Paulson, O B

“…The blood-brain barrier (BBB) permeability for glucose and beta-hydroxybutyrate (beta-OHB) was studied by the intravenous double-indicator method in nine…”
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Occurrence of cleft lip and palate in the Faroe Islands and Greenland from 1950 to 1999 by JAKOBSEN, Linda P, MØLSTED, Kirsten, CHRISTENSEN, Kaare

“…To describe the occurrence of cleft lip with or without cleft palate (CL/P) and isolated cleft palate (CP) in the Faroe Islands and Greenland over a 50-year…”
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