Výsledky vyhledávání - "Barbara D'Haene"

Akademický článek

Microhomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domain.

Autor: Hannah Verdin, Barbara D'haene, Diane Beysen, Yana Novikova, Björn Menten, Tom Sante, Pablo Lapunzina, Julian Nevado, Claudia M B Carvalho, James R Lupski, Elfride De Baere

Publikováno v: PLoS Genetics, Vol 9, Iss 3, p e1003358 (2013)

Genomic disorders are often caused by recurrent copy number variations (CNVs), with nonallelic homologous recombination (NAHR) as the underlying mechanism. Recently, several microhomology-mediated repair mechanisms--such as microhomology-mediated end

Externí odkaz: https://doaj.org/article/384d74b0cd724daa8eb069535180af67

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Akademický článek

Functional exploration of the adult ovarian granulosa cell tumor-associated somatic FOXL2 mutation p.Cys134Trp (c.402C>G).

Autor: Bérénice A Benayoun, Sandrine Caburet, Aurélie Dipietromaria, Adrien Georges, Barbara D'Haene, P J Eswari Pandaranayaka, David L'Hôte, Anne-Laure Todeschini, Sankaran Krishnaswamy, Marc Fellous, Elfride De Baere, Reiner A Veitia

Publikováno v: PLoS ONE, Vol 5, Iss 1, p e8789 (2010)

BackgroundThe somatic mutation in the FOXL2 gene c.402C>G (p.Cys134Trp) has recently been identified in the vast majority of adult ovarian granulosa cell tumors (OGCTs) studied. In addition, this mutation seems to be specific to adult OGCTs and is li

Externí odkaz: https://doaj.org/article/a9ad7ce6b18146d99665cfccbcd63a62

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Akademický článek

Disease-causing 7.4 kb cis-regulatory deletion disrupting conserved non-coding sequences and their interaction with the FOXL2 promotor: implications for mutation screening.

Publikováno v: PLoS Genetics, Vol 5, Iss 6, p e1000522 (2009)

To date, the contribution of disrupted potentially cis-regulatory conserved non-coding sequences (CNCs) to human disease is most likely underestimated, as no systematic screens for putative deleterious variations in CNCs have been conducted. As a mod

Externí odkaz: https://doaj.org/article/ae6f29c6be8c46bf9b53ff13a30398fb

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Expanding the Spectrum of FOXC1 and PITX2 Mutations and Copy Number Changes in Patients with Anterior Segment Malformations

Publikováno v: Investigative ophthalmology & visual science, 52(1), 324-333. ASSOC RESEARCH VISION OPHTHALMOLOGY INC
Investigative Ophthalmology & Visual Science, 52(1), 324-333. Association for Research in Vision and Ophthalmology
Investigative ophthalmology & visual science, 52(1), 324-333. Association for Research in Vision and Ophthalmology Inc.
Investigative ophthalmology and visual science
Investigative Ophthalmology & Visual Science, 52, 324-333. Association for Research in Vision and Ophthalmology Inc.

PURPOSE. Anterior segment dysgenesis (ASD) comprises a heterogeneous group of developmental abnormalities that affect several structures of the anterior segment of the eye. The main purpose of this study was to assess the proportion of FOXC1 and PITX

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::453899017c5ed7349dbbd89d8324c222
https://research.rug.nl/en/publications/1e5c9307-b6df-43a0-8857-7356405a3bce

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Identification of copy number variants associated with BPES-like phenotypes

Autor: Raoul C.M. Hennekam, Claudia A. L. Ruivenkamp, Joerg Seidel, Yvonne Hilhorst-Hofstee, Egbert Bakker, Ton van Essen, Elfride De Baere, Beate Albrecht, Melissa K. Maisenbacher, Martijn H. Breuning, Antoinet C.J. Gijsbers, Barbara D'haene, Marcel M.A.M. Mannens, Bart Loeys, David R. Witt

Publikováno v: HUMAN GENETICS, 124(5), 489-498. SPRINGER
Human genetics, 124(5), 489-498. Springer Verlag

Blepharophimosis-Ptosis-Epicanthus inversus syndrome (BPES) is a well-characterized rare syndrome that includes an eyelid malformation associated with (type I) or without premature ovarian failure (type II). Patients with typical BPES have four major

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43704125a72ccfb680b1fc9ef2c86bab
https://doi.org/10.1007/s00439-008-0574-9

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Renal microRNA- and RNA-profiles in progressive chronic kidney disease

Autor: Bernd Mayer, Paul Perco, Johannes Leierer, Michael A. Rudnicki, Jo Vandesompele, Irmgard Mühlberger, Pieter Mestdagh, Andreas Kronbichler, Gert Mayer, Judith Sunzenauer, Ninella Schweibert, Andreas Heinzel, Barbara D′haene, Heinz Regele

Publikováno v: European journal of clinical investigation. 46(3)

Background MicroRNAs (miRNAs) contribute to chronic kidney disease (CKD) progression via regulating mRNAs involved in renal homeostasis. However, their association with clinical outcome remains poorly understood. Materials and methods We performed mi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::339c8992b48e67f757680021e1ec65a9
https://pubmed.ncbi.nlm.nih.gov/26707063

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Structural and numerical changes of chromosome X in patients with esophageal atresia

Autor: Bert H.J. Eussen, Elisabeth M. de Jong, Robert-Jan H. Galjaard, Erwin Brosens, Pino J. Poddighe, Tahsin Stefan Barakat, Alice S. Brooks, Annelies de Klein, Elfride De Baere, Joost Gribnau, Dick Tibboel, Hannah Verdin, Barbara D'haene

Publikováno v: European Journal of Human Genetics, 22(9), 1077-1084. Nature Publishing Group
Brosens, E, De Jong, E M, Barakat, T S, Eussen, B H, D'Haene, B, De Baere, E, Verdin, H, Poddighe, P J, Galjaard, R J, Gribnau, J, Brooks, A S, Tibboel, D & De Klein, A 2014, ' Structural and numerical changes of chromosome X in patients with esophageal atresia ', European Journal of Human Genetics, vol. 22, no. 9, pp. 1077-1084 . https://doi.org/10.1038/ejhg.2013.295

Esophageal atresia with or without tracheoesophageal fistula (EA/TEF) is a relatively common birth defect often associated with additional congenital anomalies such as vertebral, anal, cardiovascular, renal and limb defects, the so-called VACTERL ass

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::165a846a06444166db5bb85b78e5f62b
https://pure.eur.nl/en/publications/84200b20-4ff8-4de0-bae4-7ccf00f25885

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Microhomology-Mediated Mechanisms Underlie Non-Recurrent Disease-Causing Microdeletions of the FOXL2 Gene or Its Regulatory Domain

Autor: Björn Menten, Julián Nevado, Hannah Verdin, Barbara D'haene, Tom Sante, James R. Lupski, Yana Novikova, Pablo Lapunzina, Claudia M.B. Carvalho, Diane Beysen, Elfride De Baere

Publikováno v: PLoS Genetics
PLOS GENETICS
PLoS Genetics, Vol 9, Iss 3, p e1003358 (2013)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::00d3bf3465141b6133e85e80eca70923
http://europepmc.org/articles/PMC3597517

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miRNA Expression Profiling: From Reference Genes to Global Mean Normalization

Autor: Jo Vandesompele, Pieter Mestdagh, Barbara D'haene, Jan Hellemans

Publikováno v: Methods in Molecular Biology
Next-Generation MicroRNA Expression Profiling Technology
Methods in Molecular Biology ISBN: 9781617794261

MicroRNAs (miRNAs) are an important class of gene regulators, acting on several aspects of cellular function such as differentiation, cell cycle control, and stemness. These master regulators constitute an invaluable source of biomarkers, and several

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d5b1d2af525bdc21c67394f0ab34933

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miRNA expression profiling: from reference genes to global mean normalization

Autor: Barbara, D'haene, Pieter, Mestdagh, Jan, Hellemans, Jo, Vandesompele

Publikováno v: Methods in molecular biology (Clifton, N.J.). 822

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::f0febeae75ac12413044f462d15e331b
https://pubmed.ncbi.nlm.nih.gov/22144205

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