Zobrazeno 1 - 10 of 1 217 pro vyhledávání: '"Genomic disorders and inherited multi-system disorders [IGMD 3]"'
1
Mutations in the Mevalonate Kinase (MVK) Gene Cause Nonsyndromic Retinitis Pigmentosa
Autor: Lies H. Hoefsloot, P. Martin van Hagen, L. Ingeborgh van den Born, Carel B. Hoyng, Kornelia Neveling, Frans P.M. Cremers, Mieke Kipping-Geertsema, Anna M. Siemiatkowska, Anneke I. den Hollander, Rob W.J. Collin, Monique Stoffels, Anna Simon, Arjen Henkes
Publikováno v: Ophthalmology, 120, 2697-705
Ophthalmology, 120(12), 2697-2705. Elsevier Inc.
Ophthalmology, 120, 12, pp. 2697-705
Contains fulltext : 125691.pdf (Publisher’s version ) (Closed access) OBJECTIVE: Retinitis pigmentosa (RP) is a clinically and genetically heterogeneous disorder characterized by night blindness and peripheral vision loss, and in many cases leads t
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b23a34004ac4b791b1b83b121055c17
https://doi.org/10.1016/j.ophtha.2013.07.052
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3
Buccal cell FISH and blood PCR-Y detect high rates of X chromosomal mosaicism and Y chromosomal derivatives in patients with Turner syndrome
Autor: Ad R. M. M. Hermus, K. Freriks, Hanneke Mieloo, Maaike A.F. Traas, Henri J L M Timmers, Dominique Smeets, Romana T. Netea-Maier, Janiëlle A E M van Alfen-van der Velden, Barto J. Otten, Catharina C. M. Beerendonk, Guillaume van de Zande, Lies H. Hoefsloot
Publikováno v: European Journal of Medical Genetics, 56, 9, pp. 497-501
European Journal of Medical Genetics, 56, 497-501
Item does not contain fulltext Turner syndrome (TS) is the result of (partial) X chromosome monosomy. In general, the diagnosis is based on karyotyping of 30 blood lymphocytes. This technique, however, does not rule out tissue mosaicism or low grade
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::116177bcd37fd78bae5eb92f1fd873ef
https://doi.org/10.1016/j.ejmg.2013.07.008
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4
Reliable laboratory urinalysis results using a new standardised urine collection device
Autor: Michiel F. Schreuder, Myriam A.M.A. Roelofs-Thijssen, Antonius E. van Herwaarden, Marije Hogeveen
Publikováno v: Clinical Biochemistry, 46, 13-14, pp. 1252-6
Clinical Biochemistry, 46, 1252-6
Item does not contain fulltext OBJECTIVES: While urine sampling is necessary in the diagnosis of urinary tract infection and electrolyte disturbances, the collection of urine in neonates and non-toilet-trained children is often difficult. A universal
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff7e3d058d5b11bfcc5634f94855d7bf
https://doi.org/10.1016/j.clinbiochem.2013.04.014
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5
Intellectual disability and bleeding diathesis due to deficient CMP-sialic acid transport
Autor: Arjan P.M. de Brouwer, Angel Ashikov, Rita Gerardy-Schahn, Samuel Schmidt, Joris H. Robben, Miski Mohamed, Maïlys Guillard, Ron A. Wevers, B. van den Heuvel, Peter M.T. Deen, Eva Morava, Dirk Lefeber
Publikováno v: Neurology, 81, 7, pp. 681-7
Neurology, 81, 681-7
Contains fulltext : 119120.pdf (Publisher’s version ) (Closed access) OBJECTIVE: To identify the underlying genetic defect in a patient with intellectual disability, seizures, ataxia, macrothrombocytopenia, renal and cardiac involvement, and abnorm
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4bd2210be2243f322d3a0fb594dd4238
https://doi.org/10.1212/wnl.0b013e3182a08f53
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6
Genotype-Specific Abnormalities in Mitochondrial Function Associate with Distinct Profiles of Energy Metabolism and Catecholamine Content in Pheochromocytoma and Paraganglioma
Autor: Arjen R. Mensenkamp, Ron A. Wevers, Jyotsna U. Rao, Angelina G. Goudswaard, Henricus P.M. Kunst, Udo F. H. Engelke, Karel Pacak, Graeme Eisenhofer, Nan Qin, Ad Hermus, Jacques W. M. Lenders, Richard J. Rodenburg, Henri J. L. M. Timmers, Benno Kusters, Fred C.G.J. Sweep
Publikováno v: Clinical Cancer Research; Vol 19
Clinical Cancer Research, 19, 3787-95
Clinical Cancer Research, 19, 14, pp. 3787-95
Purpose: Pheochromocytomas and paragangliomas (PGL) are neuroendocrine tumors of sympathetic and parasympathetic paraganglia. This study investigated the relationships between genotype-specific differences in mitochondrial function and catecholamine
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a8b55612d5f34a85347800592c9f568
https://doi.org/10.1158/1078-0432.ccr-12-3922
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7
New TRPC6 gain-of-function mutation in a non-consanguineous Dutch family with late-onset focal segmental glomerulosclerosis
Autor: Willie H.M. van Kuijk, Jo H. M. Berden, Jack F.M. Wetzels, Lies H. Hoefsloot, Sergio Lainez, René J. M. Bindels, Johan van der Vlag, Marijke P. Baltissen, Jeroen Schoots, Tom Nijenhuis, Julia M. Hofstra, Nine V A M Knoers, Joost G. J. Hoenderop
Publikováno v: Nephrology, Dialysis, Transplantation, 28, 7, pp. 1830-8
Nephrology, Dialysis, Transplantation, 28, 1830-8
Nephrology, Dialysis, Transplantation, 28(7), 1830-1838. Oxford University Press
Contains fulltext : 118864.pdf (Publisher’s version ) (Closed access) BackgroundFocal segmental glomerulosclerosis (FSGS) is a leading cause of steroid-resistant nephrotic syndrome. Hereditary FSGS is frequently caused by mutations in important str
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https://doi.org/10.1093/ndt/gfs572
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8
The Cardiac Phenotype in Patients With a CHD7 Mutation
Autor: Nicole Corsten-Janssen, Maria E. Baardman, Jorieke E. H. Bergman, Gideon J. du Marchie Sarvaas, Ketil Heimdal, Wilhelmina S. Kerstjens-Frederikse, Raoul C.M. Hennekam, Lies H. Hoefsloot, Livia Kapusta, Hanne Hove, Conny M. A. van Ravenswaaij-Arts, Robert M.W. Hofstra, Marian K. Bakker, Cecilie F. Rustad
Publikováno v: Circulation. Cardiovascular Genetics, 6, 248-54
Circulation. Cardiovascular Genetics, 6, 3, pp. 248-54
Circulation. Cardiovascular genetics, 6(3), 248-254. Lippincott Williams and Wilkins
Circulation-Cardiovascular Genetics, 6(3), 248-254. LIPPINCOTT WILLIAMS & WILKINS
Circulation-cardiovascular genetics, 6(3), 248-254. Lippincott Williams & Wilkins
Background— Loss-of-function mutations in CHD7 cause Coloboma, Heart Disease, Atresia of Choanae, Retardation of Growth and/or Development, Genital Hypoplasia, and Ear Abnormalities With or Without Deafness (CHARGE) syndrome, a variable combination
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7231be9b5a12e20133c334cf9dadd640
https://doi.org/10.1161/circgenetics.113.000054
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9
Phospholipase A2 Receptor (PLA2R1) Sequence Variants in Idiopathic Membranous Nephropathy
Autor: S. H. Powis, Robert Kleta, Marieke J H Coenen, Anne Boland-Augé, Peter W. Mathieson, Paul Brenchley, Hanna Debiec, Jack F.M. Wetzels, Johanne M. Groothuismink, Bénédicte Stengel, Horia Stanescu, Alan Medlar, Julia M. Hofstra, Pierre Ronco, Detlef Bockenhauer
Publikováno v: Journal of the American Society of Nephrology
Journal of the American Society of Nephrology, 2013, 24 (4), pp.677-683. ⟨10.1681/ASN.2012070730⟩
Journal of the American Society of Nephrology, American Society of Nephrology, 2013, 24 (4), pp.677-83. ⟨10.1681/ASN.2012070730⟩
Journal of the American Society of Nephrology, 2013, 24 (4), pp.677-83. ⟨10.1681/ASN.2012070730⟩
Journal of the American Society of Nephrology, American Society of Nephrology, 2013, 24 (4), pp.677-683. ⟨10.1681/ASN.2012070730⟩
Journal of the American Society of Nephrology, 24, 4, pp. 677-83
Journal of the American Society of Nephrology; Vol 24
Journal of the American Society of Nephrology, 24, 677-83
International audience; The M-type receptor for phospholipase A2 (PLA2R1) is the major target antigen in idiopathic membranous nephropathy (iMN). Our recent genome-wide association study showed that genetic variants in an HLA-DQA1 and phospholipase A
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b192b20a06677d3bf650e3bd66ad35f
https://doi.org/10.1681/asn.2012070730
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10
Leigh syndrome associated with mitochondrial complex I deficiency due to novel mutations In NDUFV1 and NDUFS2
Autor: Brian H. Robinson, Ronit Mesterman, Mark A. Tarnopolsky, Jan A.M. Smeitink, Samantha E. Marin, Richard J. Rodenburg
Publikováno v: Gene, 516, 162-7
Gene, 516, 1, pp. 162-7
Item does not contain fulltext Leigh syndrome (LS) is a progressive neurodegenerative disease caused by either mitochondrial or nuclear DNA mutations resulting in dysfunctional mitochondrial energy metabolism. Mutations in genes encoding for subunits
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ba9ef7afa44a1b6883d94315e3215e9
https://doi.org/10.1016/j.gene.2012.12.024
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