Modified multiple marker aneuploidy screening as a primary screening test for preeclampsia

Autor: Tianhua Huang, H. Melanie Bedford, Shamim Rashid, Evasha Rasasakaram, Megan Priston, Ellen Mak-Tam, Clare Gibbons, Wendy S. Meschino, Howard Cuckle, Elad Mei-Dan

Publikováno v: BMC Pregnancy and Childbirth, Vol 22, Iss 1, Pp 1-14 (2022)

Abstract Background Abnormal levels of maternal biochemical markers used in multiple marker aneuploidy screening have been associated with adverse pregnancy outcomes. This study aims to assess if a combination of maternal characteristics and biochemi

Externí odkaz: https://doaj.org/article/6296fe0375c74458a6a421fe71e136cc

Human Germline Heterozygous Gain-of-Function STAT6 Variants Cause Severe Allergic Disease

Autor: Mehul Sharma, Henry Y. Lu, Maryam Vaseghi-Shanjani, Kate L. Del Bel, Oriol Fornes, Robin van der Lee, Phillip A. Richmond, Susan Lin, Joshua Dalmann, Jessica J. Lee, Allison Matthews, Géraldine Blanchard-Rohner, Clara D M van Karnebeek, H. Melanie Bedford, Wyeth W. Wasserman, Michael Seear, Margaret L. McKinnon, Hanan Ahmed, Stuart E. Turvey

STAT6 (Signal transducer and activator of transcription 6) is a transcription factor that plays a central role in the pathophysiology of allergic inflammation. STAT6 mediates the biological effects of IL-4, a cytokine necessary for type 2 differentia

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::b5a633688fe61c4c27108b3765a721d9
https://doi.org/10.1101/2022.04.25.22274265

Prenatal screening for trisomy 21: a comparative performance and cost analysis of different screening strategies

Autor: Wendy S. Meschino, H. Melanie Bedford, Shamim Rashid, Tianhua Huang, Clare Gibbons, Ellen Mak-Tam, Megan K. Priston

Publikováno v: BMC Pregnancy and Childbirth

Background Prenatal screening for chromosome aneuploidies have constantly been evolving, especially with the introduction of cell-free fetal DNA (cfDNA) screening in the most recent years. This study compares the performance, costs and timing of test

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae7c21a62b42d587ffa62cdb7fe8b62a
https://doi.org/10.1186/s12884-020-03394-w

Prenatal diagnosis of Jeune-like syndromes with two-dimensional and three-dimensional sonography

Autor: Rose Rahmani, Cara L. Sterling, H. Melanie Bedford

Publikováno v: Journal of Clinical Ultrasound. 40:222-226

The purpose of this article is to describe the use of three-dimensional sonography as an adjuvant to two-dimensional sonography facilitating an earlier and more definitive diagnosis of Jeune and Jeune-like syndromes in the second trimester. We report

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::73d74ba206ea5087cfb1e4b93e04e69f
https://doi.org/10.1002/jcu.20902

Disruption of the ASTN2 / TRIM32 locus at 9q33.1 is a risk factor in males for Autism Spectrum Disorders, ADHD and other neurodevelopmental phenotypes

Autor: Patricia I. Bader, Christina Chrysler, Pietro Cavalli, Mohammed Uddin, Carlo Poggiani, Noam Soreni, Andrew D. Paterson, Roberto Ciccone, Diana Postorivo, Sebastiano A. Musumeci, Lonnie Zwaigenbaum, Eli Hatchwell, Michael E. Talkowski, Sarah M. Nikkel, Paul D. Arnold, H. Melanie Bedford, Vincenzo Antona, Sylvia Lamoureux, Caroline Mackie Ogilvie, Timothy Wilks, John Wei, Eva M Tomiak, Ugo Cavallari, Marc Woodbury-Smith, Orsetta Zuffardi, Susan Walker, Bob Argiropoulos, Judy Chernos, Charu Deshpande, Jeffrey R. MacDonald, Bai-Lin Wu, Thomas Nalpathamkalam, Lone W. Laulund, Anna Maria Nardone, Gioacchino Scarano, Bridget A. Fernandez, Christian R. Marshall, John Trounce, Susan Leather, Peter Szatmari, Anath C. Lionel, Jennelle C. Hodge, Ann C White, Dimitri J. Stavropoulos, Matteo Della Monica, David S Cobb, Cassandra K. Runke, Zhuozhi Wang, Corrado Romano, Michael T. Geraghty, Leopoldo Zelante, Joo Wook Ahn, Matthew J. Gazzellone, Leonardo Zoccante, Marsha Speevak, Bhooma Thiruvahindrapuram, Russell Schachar, Jennifer L. Howe, Jill Clayton-Smith, Christina Fagerberg, R. Brian Lowry, Francesca Novara, Marco Fichera, Jill A. Rosenfeld, Charlotte Brasch-Andersen, Stephen W. Scherer, Giovanna Pellecchia, Divya Mandyam, Vamsee Pillalamarri, Yu An, Wendy Roberts, Abdul Noor, Daniel Tolson, Melissa T. Carter, Peggy S. Eis, Joyce So, Jennifer Crosbie, Massimo Carella, Ryan K. C. Yuen, Andrea K. Vaags, Mark J Sorensen, Daniele Merico, Kristiina Tammimies, Yiping Shen

Publikováno v: Lionel, A C, Tammimies, K, Vaags, A K, Rosenfeld, J A, Ahn, J W, Merico, D, Noor, A, Runke, C K, Pillalamarri, V K, Carter, M T, Gazzellone, M J, Thiruvahindrapuram, B, Fagerberg, C R, Laulund, L W, Pellecchia, G, Lamoureux, S, Deshpande, C, Clayton-Smith, J, White, A C, Leather, S, Trounce, J, Bedford, H M, Hatchwell, E, Eis, P S, Yuen, R K C, Walker, S, Uddin, M, Geraghty, M T, Nikkel, S M, Tomiak, E M, Fernandez, B A, Soreni, N, Crosbie, J, Arnold, P D, Schachar, R J, Roberts, W, Paterson, A D, So, J, Szatmari, P, Chrysler, C, Woodbury-Smith, M, Lowry, R B, Zwaigenbaum, L, Mandyam, D, Wei, J, Macdonald, J R, Howe, J L, Nalpathamkalam, T, Wang, Z, Tolson, D, Cobb, D S, Wilks, T M, Sorensen, M J, Bader, P I, An, Y, Wu, B-L, Musumeci, S A, Romano, C, Postorivo, D, Nardone, A M, Della Monica, M, Scarano, G, Zoccante, L, Novara, F, Zuffardi, O, Ciccone, R, Antona, V, Carella, M, Zelante, L, Cavalli, P, Poggiani, C, Cavallari, U, Argiropoulos, B, Chernos, J, Brasch-Andersen, C, Speevak, M, Fichera, M, Ogilvie, C M, Shen, Y, Hodge, J C, Talkowski, M E, Stavropoulos, D J, Marshall, C R & Scherer, S W 2014, ' Disruption of the ASTN2 / TRIM32 locus at 9q33.1 is a risk factor in males for Autism Spectrum Disorders, ADHD and other neurodevelopmental phenotypes ', Human Molecular Genetics, vol. 23, no. 10, ddt669, pp. 2752-2768 . https://doi.org/10.1093/hmg/ddt669
Human molecular genetics, vol 23, iss 10

Rare copy number variants (CNVs) disrupting ASTN2 or both ASTN2 and TRIM32 have been reported at 9q33.1 by genome-wide studies in a few individuals with neurodevelopmental disorders (NDDs). The vertebrate-specific astrotactins, ASTN2 and its paralog

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8bfeae936d3d7f9ee8d7af79c0056ff4
https://portal.findresearcher.sdu.dk/da/publications/d617e944-95e3-4e20-8656-8ea74a5c3ed2