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Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations

Publikováno v: American Journal of Medical Genetics. Part A, 132, 1-7
American Journal of Medical Genetics. Part A, 132A(1), 1-7. Wiley
American Journal of Medical Genetics. Part A, 132, 1, pp. 1-7
American Journal of Medical Genetics Part A, 132A(1), 1-7. Wiley-Liss Inc.
American Journal of Medical Genetics, 132 A(1), 1-7. Wiley-Liss Inc.

Contains fulltext : 48815.pdf (Publisher’s version ) (Closed access) Opitz syndrome (OS; MIM 145410 and MIM 300000) is a congenital midline malformation syndrome characterized by hypertelorism, hypospadias, cleft lip/palate, laryngotracheoesophagea

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::371376c390b4946617e678f7d04d7e26
https://research.rug.nl/en/publications/93243ea0-7cee-4c9c-a12b-6e48435635e0

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Variation in microdeletions of the cyclic AMP-responsive element-binding protein gene at chromosome band 16p13.3 in the Rubinstein-Taybi syndrome

Autor: Johannes G. Dauwerse, Lester Weiss, Howard M. Saal, Fred Petrij, Ruthann I. Blough, Jack H. Rubinstein, Athena Milatovich-Cherry

Publikováno v: American Journal of Medical Genetics. 90:29-34

Most reported microdeletions of the CREB-binding protein (CBP) gene in the Rubinstein-Taybi syndrome (RTS) were detected by fluorescence in situ hybridization (FISH) with a single cosmid probe specific to the 3' region of the gene. In order to test t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::c17c13220069a973165a247ed8b619fe
https://doi.org/10.1002/(sici)1096-8628(20000103)90:1<29::aid-ajmg6>3.0.co

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Rubinstein-Taybi syndrome caused by a De Novo reciprocal translocation t(2;16)(q36.3;p13.3)

Autor: Ton Peeters, Hans G. Dauwerse, Dorien J.M. Peters, Josephine C. Dorsman, Rachel H. Giles, Martijn H. Breuning, Fred Petrij, Raoul C.M. Hennekam

Publikováno v: American journal of medical genetics, 92(1), 47-52. Wiley-Liss Inc.
American Journal of Medical Genetics, 92, 47-52. Wiley-Liss Inc.

Rubinstein-Taybi syndrome (RTS) is a multiple congenital anomalies and mental retardation syndrome characterized by facial abnormalities, broad thumbs, and broad big toes. We have shown previously that disruption of the human CREB-binding protein (CB

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21e041f883fc0501e2e02dc0ed0b645c
https://doi.org/10.1002/(sici)1096-8628(20000501)92:1<47::aid-ajmg8>3.0.co

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Detection of CBP rearrangements in acute myelogenous leukemia with t(8;16)

Autor: B. A. Van Der Reijden, Hartmut Döhner, J. H. F. Falkenburg, G.J.B. van Ommen, Fred Petrij, M Jotterand-Bellomo, J. G. Dauwerse, C. Higgins, Geoffrey C. Beverstock, Martijn H. Breuning, Rachel H. Giles, J. W. Wessels, Rosalyn Slater, A. Hagemeijer

Publikováno v: Leukemia. 11:2087-2096

The CREB-binding protein (CBP) is a large nuclear protein that regulates many signal transduction pathways and is involved in chromatin-mediated transcription. The translocation t(8;16)(p11;p13.3) consistently disrupts two genes: the CBP gene on chro

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cab6b2194ae6556699208abb4d47e43c
https://doi.org/10.1038/sj.leu.2400882

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Construction of a 1.2-Mb Contig Surrounding, and Molecular Analysis of, the Human CREB-Binding Protein (CBP/CREBBP) Gene on Chromosome 16p13.3

Autor: Larry L. Deaven, Richard H. Goodman, Rachel H. Giles, Hans G. Dauwerse, Dorien J.M. Peters, Gert-Jan B. van Ommen, Norman A. Doggett, Martijn H. Breuning, Anneke I. Den Hollander, Fred Petrij, Tamara Lushnikova

Publikováno v: Genomics. 42:96-114

In the interest of cloning and analyzing the genes responsible for two very different diseases, the Rubinstein-Taybi syndrome (RTS) and acute myeloid leukemia (AML) associated with the somatic translocation t(8;16)(p11;p13.3), we constructed a high-r

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d8d66b8c5839032f3992e00aadc261a9
https://doi.org/10.1006/geno.1997.4699

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Response to desmopressin is strongly dependent on F8 gene mutation type in mild and moderate haemophilia A

Autor: Frank W.G. Leebeek, Sara C. M. Stoof, Moniek P.M. de Maat, Marieke J. H. A. Kruip, Fred Petrij, Marjon H. Cnossen, Y V Sanders

Publikováno v: Thrombosis and Haemostasis, 109(3), 440-449. Georg Thieme Verlag

SummaryDesmopressin causes two- to six-fold increase of factor VIII (FVIII) in mild or moderate haemophilia A patients. However, responses are variable and little is known whether this is associated with F8 gene mutation. The study objective was to a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8717f8736b1c8ea8ede3416953efb5d4
https://pure.eur.nl/en/publications/da5e7513-a34b-414c-85bd-b56d14d926eb

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Value-Based Health Care (VBHC) in Sickle Cell Disease: A Dutch Initiative

Autor: Francis van Veelen, Amando J. Heesterman, Thea J. van Zon, Marieke Joosten, Marjon H. Cnossen, Jan A. Hazelzet, Alice M.A. Goncalves Silva, Fred Petrij, Cora J.D. Onna Van Walraven, Fia ten Brink, Sonja A.M.C. Teuben, Anita W. Rijneveld, Marie-José J.A.G. Claessen, Renée du Mortier

Publikováno v: Blood. 126:5572-5572

Background: Value-based health care (VBHC) according to Porter et al. is a novel approach that aims to improve health care by identifying and systematically measuring both medical and patient-centered health care outcome. Thus, including the well-bei

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::da94b9d481f3b064f1944c9a0522bac0
https://doi.org/10.1182/blood.v126.23.5572.5572

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Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations

Autor: G-J B van Ommen, A. van Haeringen, C.D. van Karnebeek, M.H. Breuning, Hans G. Dauwerse, J.H. Rubinstein, R.I. Blough, Rachel H. Giles, J.J. van der Smagt, Fred Petrij, Howard M. Saal, Dorien J.M. Peters, P.D. Maaswinkel-Mooy, Raoul C.M. Hennekam, R. Wallerstein

Publikováno v: Journal of medical genetics, 37(3), 168-176. BMJ Publishing Group
Journal of Medical Genetics, 37, 168-176. BMJ Publishing Group
Scopus-Elsevier

Rubinstein-Taybi syndrome (RTS) is a malformation syndrome characterised by facial abnormalities, broad thumbs, broad big toes, and mental retardation. In a subset of RTS patients, microdeletions, translocations, and inversions involving chromosome b

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5b2ef4e005114754393fb15f38cc5597
https://pure.amc.nl/en/publications/diagnostic-analysis-of-the-rubinsteintaybi-syndrome-five-cosmids-should-be-used-for-microdeletion-detection-and-low-number-of-protein-truncating-mutations(1e001bd4-76b8-4e43-9c8e-93d53dd3bb4a).html

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Submicroscopic deletion of chromosome 16p13.3 in patients with Rubinstein-Taybi syndrome

Autor: Cyril Goizet, Didier Lacombe, Benoit Arveiler, Laurence Taine, Martijn H. Breuning, Robert Saura, Ségolène Aymé, Fred Petrij, Zong Qi Wen

Publikováno v: American journal of medical genetics. 78(3)

The Rubinstein-Taybi syndrome (RTS) is a well-defined entity characterized by growth and mental retardation, broad thumbs and halluces, and typical face. The RTS locus was assigned to 16p13.3, and interstitial submicroscopic deletions of this region

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9529f1c8c0d99c9476ee64a04785f0b8
https://pubmed.ncbi.nlm.nih.gov/9677064

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