Zobrazeno 1 - 10 of 17 pro vyhledávání: '"Gerhard, Hammersen"'
1
Activating mutations in the calcium-sensing receptor: genetic and clinical spectrum in 25 patients with autosomal dominant hypocalcaemia - a German survey
Autor: Peter H. Heidemann, Martin Wabitsch, Dirk Schnabel, Christof Schöfl, Christine Haag, Egbert Schulze, Reinhard Santen, Friedhelm Raue, Josef Pichl, Karin Frank-Raue, Helmuth-G. Dörr, C. Jaursch-Hancke, Gerhard Hammersen
Publikováno v: Clinical Endocrinology. 75:760-765
Summary Objective Autosomal dominant hypocalcaemia or hypoparathyroidism is caused by activating mutations of the calcium-sensing receptor (CaSR). Treatment with calcium and vitamin D often worsens hypercalciuria and nephrocalcinosis, and renal impai
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::063b9da299ec6017b7846ebeeb0bc379
https://doi.org/10.1111/j.1365-2265.2011.04142.x
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2
Lethal cutis laxa with contractural arachnodactyly, overgrowth and soft tissue bleeding due to a novel homozygousfibulin-4gene mutation
Autor: Cornelia Kraus, Geppert Jp, Anita Rauch, Juliane Hoyer, Gerhard Hammersen
Publikováno v: Clinical Genetics. 76:276-281
Cutis laxa is characterised by redundant, inelastic skin with deep wrinkling and additional variable systemic involvement. Mutations in fibulin-4 (EFEMP2) and fibulin-5 (FBLN5) were described to be causative for autosomal recessive cutis laxa type 1
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7bc77cd6376ae30409bb5fe58f543b46
https://doi.org/10.1111/j.1399-0004.2009.01204.x
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3
Mutations in STRA6 Cause a Broad Spectrum of Malformations Including Anophthalmia, Congenital Heart Defects, Diaphragmatic Hernia, Alveolar Capillary Dysplasia, Lung Hypoplasia, and Mental Retardation
Autor: Gunnar Houge, Axel von der Wense, Christian Becker, Pierre Bitoun, Francesca Pasutto, Gudrun Nürnberg, David Chitayat, John Tolmie, Peter Meinecke, David R. FitzPatrick, André Reis, Anne Slavotinek, Geert Mortier, Gerhard Hammersen, Sarah Keating, Raoul C.M. Hennekam, Heinrich Sticht, Peter Nürnberg, Heidemarie Schirmer-Zimmermann, Lorena Fernández-Martínez, Gabriele Gillessen-Kaesbach, Frank Brasch, Anita Rauch
Publikováno v: American journal of human genetics, 80(3), 550-560. Cell Press
Pasutto, F, Sticht, H, Hammersen, G, Gillessen-Kaesbach, G, Fitzpatrick, D R, Nürnberg, G, Brasch, F, Schirmer-Zimmermann, H, Tolmie, J L, Chitayat, D, Houge, G, Fernández-Martínez, L, Keating, S, Mortier, G, Hennekam, R C M, von der Wense, A, Slavotinek, A, Meinecke, P, Bitoun, P, Becker, C, Nürnberg, P, Reis, A & Rauch, A 2007, ' Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation ', American Journal of Human Genetics, vol. 80, no. 3, pp. 550-60 . https://doi.org/10.1086/512203
We observed two unrelated consanguineous families with malformation syndromes sharing anophthalmia and distinct eyebrows as common signs, but differing for alveolar capillary dysplasia or complex congenital heart defect in one and diaphragmatic herni
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f10b189ca45bb1063918f5ed1932b6bf
https://doi.org/10.1086/512203
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5
Activating mutations in the calcium-sensing receptor: genetic and clinical spectrum in 25 patients with autosomal dominant hypocalcaemia - a German survey
Autor: Friedhelm, Raue, Josef, Pichl, Helmuth-G, Dörr, Dirk, Schnabel, Peter, Heidemann, Gerhard, Hammersen, Cornelia, Jaursch-Hancke, Reinhard, Santen, Christof, Schöfl, Martin, Wabitsch, Christine, Haag, Egbert, Schulze, Karin, Frank-Raue
Publikováno v: Clinical endocrinology. 75(6)
Autosomal dominant hypocalcaemia or hypoparathyroidism is caused by activating mutations of the calcium-sensing receptor (CaSR). Treatment with calcium and vitamin D often worsens hypercalciuria and nephrocalcinosis, and renal impairment can result.
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::ca54de4b2b4a1b4e15aa92ebff3bcc90
https://pubmed.ncbi.nlm.nih.gov/21645025
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6
tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia
Autor: Raoul C.M. Hennekam, Marian A. J. Weterman, Gudrun Nürnberg, Eleonora Aronica, Francesco Muntoni, Yasmin Namavar, Bwee Tien Poll-The, Frank Baas, Peter G. Barth, Birgit Budde, Mohammad R. Toliat, Ingeborg Krägeloh-Mann, Bernd Wollnik, Mårten Kyllerman, Yanick J. Crow, Wolfgang Höhne, Fred van Ruissen, Knut Brockmann, Thomas Voit, Erik T. Te Beek, Linda S. de Vries, Michèl A.A.P. Willemsen, Peter Nürnberg, Maja Steinlin, Roberta Battini, Kees Fluiter, Lina Basel-Vanagaite, Eugen Boltshauser, Wim Brussel, Eugenio Grillo, Filip Roelens, Gerhard Hammersen, Frits A. Beemer, Christian Becker, Marjo S. van der Knaap, Loes M E Stoets, László Sztriha, Colin D. Ferrie
Publikováno v: Nature genetics, 40(9), 1113-1118. Nature Publishing Group
Nature Genetics, 40(9), 1113-1118. Nature Publishing Group
Budde, B S, Namavar, Y, Barth, P G, Poll-The, B, Nurnberg, G, Becker, C, van Ruissen, F, Weterman, M A J, Fluiter, K, Beek, E T T, Aronica, E, van der Knaap, M S, Hohne, W, Toliat, M R, Crow, Y J, Steinlin, M, Voit, T, Roelens, F, Brussel, W, Brockmann, K, Kyllerman, M, Boltshauser, E, Hammersen, G, Willemsen, M, Basel-Vanagaite, L, Krageloh-Mann, I, de Vries, L S, Sztriha, L, Muntoni, F, Ferrie, C D, Battini, R, Hennekam, R C M, Grillo, E, Beemer, F A, Stoets, L M E, Wollnik, B, Nurnberg, P & Baas, F 2008, ' tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia ', Nature Genetics, vol. 40, no. 9, pp. 1113-1118 . https://doi.org/10.1038/ng.204
Nature Genetics, 40, 1113-8
Nature Genetics, 40, 9, pp. 1113-8
Contains fulltext : 69211.pdf (Publisher’s version ) (Closed access) Pontocerebellar hypoplasias (PCH) represent a group of neurodegenerative autosomal recessive disorders with prenatal onset, atrophy or hypoplasia of the cerebellum, hypoplasia of
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a425a2c2a82fb0e3458021b8b1adaf9
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7
Varicella-related deaths in children and adolescents--Germany 2003-2004
Autor: Veit Grote, Johannes G. Liese, Gerhard Hammersen, Wolfgang Springer, Hans Wolfgang Kreth, Rüdiger von Kries
Publikováno v: Acta paediatrica (Oslo, Norway : 1992). 97(2)
Aim: Although varicella is acknowledged as a rare cause of death in children, there are few comprehensive data with respect to the clinical course leading to death. Methods: A nationwide, active surveillance was carried out in Germany for children up
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bac9a58c89c7a7a5ae281cb09e300cdb
https://pubmed.ncbi.nlm.nih.gov/18076716
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8
A Defect in Dolichol Phosphate Biosynthesis Causes a New Inherited Disorder with Death in Early Infancy
Autor: Gerhard Hammersen, V. Debus, Jonas Denecke, Christian Kranz, Erik Harms, Christoph Jungeblut, Anna Reith, Ulrich Schwarzer, Thorsten Marquardt, Christina Sohlbach, Hans Gerd Kehl, Helfried Gröbe, Anne Erlekotte, Sonja Reichel
Publikováno v: ResearcherID
The following study describes the discovery of a new inherited metabolic disorder, dolichol kinase (DK1) deficiency. DK1 is responsible for the final step of the de novo biosynthesis of dolichol phosphate. Dolichol phosphate is involved in several gl
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dab04499ac570f995279373a9a3a3ebc
https://europepmc.org/articles/PMC1821118/
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9
The clinical phenotype of succinic semialdehyde dehydrogenase deficiency (4-Hydroxybutyric Aciduria): case reports of 23 new patients
Autor: Cornelis Jakobs, Daniel L. Bluestone, Ernst Christensen, Allie Moosa, Cesar Santos, Joyce A. Kobori, Daniel Rabier, F Aksu, Dietrich Matern, Klaus Raab, Pierre Beauvais, Brigitte Vollmer, Todd F. Barron, Willy Lehnert, Janice E. Finkelstein, Hans Peter Weber, Gerhard Hammersen, K. Michael Gibson, Brian Fowler, Richard Umansky, Jan A.J.M. Bakkeren, Eva Rossier, Michael Clarke, A. Kimberly Iafolla, Oebele F. Brouwer, Fons J. M. Gabreëls
Publikováno v: Pediatrics (Evanston), 99, 567-574
Pediatrics (Evanston), 99, pp. 567-574
Karolinska Institutet
Pediatrics (Evanston), 99, 4, pp. 567-574
Objectives. To further define the clinical spectrum of the disease for pediatric and metabolic specialists, and to suggest that the general pediatrician and pediatric neurologist consider succinic semialdehyde dehydrogenase (SSADH) deficiency in the
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f8cf8205fcec461aac75b58b762ec3f7
http://hdl.handle.net/2066/25009
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10
Starch gel electrophoresis for galactose-1-phosphate uridylyl-transferase applied to dried filter paper blood specimens
Autor: Harvey L. Levy, Gerhard Hammersen
Publikováno v: Clinica Chimica Acta. 77:295-299
Starch gel electrophoresis of galactose-1-phosphate uridylyl transferase has been adapted for use on dried filter paper blood specimens submitted for the purposes of routine newborn screening for galactosemia and other inborn errors of metabolism. Se
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e79bc9e1c3d74f8c119516c76a4ec7f
https://doi.org/10.1016/0009-8981(77)90232-7
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