Genomic and Functional Overlap between Somatic and Germline Chromosomal Rearrangements

Autor: Sebastiaan van Heesch, Marieke Simonis, Markus J. van Roosmalen, Vamsee Pillalamarri, Harrison Brand, Ewart W. Kuijk, Kim L. de Luca, Nico Lansu, A. Koen Braat, Androniki Menelaou, Wensi Hao, Jeroen Korving, Simone Snijder, Lars T. van der Veken, Ron Hochstenbach, Alida C. Knegt, Karen Duran, Ivo Renkens, Najla Alekozai, Myrthe Jager, Sarah Vergult, Björn Menten, Ewart de Bruijn, Sander Boymans, Elly Ippel, Ellen van Binsbergen, Michael E. Talkowski, Klaske Lichtenbelt, Edwin Cuppen, Wigard P. Kloosterman

Publikováno v: Cell Reports, Vol 9, Iss 6, Pp 2001-2010 (2014)

Genomic rearrangements are a common cause of human congenital abnormalities. However, their origin and consequences are poorly understood. We performed molecular analysis of two patients with congenital disease who carried de novo genomic rearrangeme

Externí odkaz: https://doaj.org/article/3fde279ae3264a15b1b84b25ba00f8e2

Absence epilepsy and the CHD2 gene: an adolescent male with moderate intellectual disability, short-lasting psychoses, and an interstitial deletion in 15q26.1–q26.2

Autor: Willem M.A. Verhoeven, José Zuydam, Jos I. M. Egger, Alida C. Knegt, Tjitske Kleefstra

Publikováno v: Neuropsychiatric Disease and Treatment
Neuropsychiatric Disease and Treatment, 12, 1135-1139. Dove Medical Press Ltd.
Neuropsychiatric Disease and Treatment, 12, pp. 1135-1139
Neuropsychiatric Disease and Treatment, 12, 1135-1139

Contains fulltext : 167606.pdf (Publisher’s version ) (Open Access) Deletions of the 15q26 region encompassing the chromodomain helicase DNA binding domain 2 (CHD2) gene have been associated with intellectual disability, behavioral problems, and se

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e633dd946b96224d60cad8a35b9c5de5
http://europepmc.org/articles/PMC4869798

Mosaic maternal 10qter deletions are associated with FRA10B expansions and may cause false-positive noninvasive prenatal screening results

Autor: Karin Huijsdens-van Amsterdam, Dominique Smeets, Erik A. Sistermans, Diane Van Opstal, Alida C. Knegt, Merel C. van Maarle, Roy Straver, Frank Sleutels

Publikováno v: Genetics in Medicine, 20(11), 1472-1476. Lippincott Williams & Wilkins
Genetics in Medicine, 20(11), 1472-1476. Lippincott Williams and Wilkins
Genetics in Medicine, 20, 1472-1476
Genetics in medicine, 20(11), 1472-1476. Lippincott Williams and Wilkins
Huijsdens–van Amsterdam, K, Straver, R, van Maarle, M C, Knegt, A C, Van Opstal, D, Sleutels, F, Smeets, D & Sistermans, E A 2018, ' Mosaic maternal 10qter deletions are associated with FRA10B expansions and may cause false-positive noninvasive prenatal screening results ', Genetics in Medicine, vol. 20, no. 11, pp. 1472-1476 . https://doi.org/10.1038/gim.2018.32
Genetics in Medicine, 20, 11, pp. 1472-1476
Genetics in Medicine, 20(11), 1472. Lippincott Williams and Wilkins

Purpose: Using genome-wide noninvasive prenatal screening (NIPS), we detected a 20-megabase specific deletion starting at 10q25 in eight pregnancies. The deletion could not be confirmed by invasive testing. Since all 10(q25→qter) deletions started

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39748fda702e81b201a1fc48f8fd1bde
https://pure.eur.nl/en/publications/35396cef-db1f-4219-9d3b-91422c78bb4b

De novo mutations of the gene encoding the histone acetyltransferase KAT6B in two patients with Say-Barber/Biesecker/Young-Simpson syndrome

Autor: Alida C. Knegt, Naseebullah Kakar, Éva Oláh, Katalin Szakszon, Guntram Borck, Carmelo Salpietro, Bruno Dallapiccola

Publikováno v: American journal of medical genetics. Part A, 161A(4), 884-888. Wiley-Liss Inc.

The Say-Barber/Biesecker/Young-Simpson (SBBYS) type of the blepharophimosis-mental retardation syndrome group (Ohdo-like syndromes) is a multiple congenital malformation syndrome characterized by vertical narrowing and shortening of the palpebral fis

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::93fcdf7414485257629ac6dad7bc7860
https://doi.org/10.1002/ajmg.a.35848

Aiming at multidisciplinary consensus: what should be detected in prenatal diagnosis?

Autor: Alida C. Knegt, Erwin Birnie, Jan M. M. van Lith, E. M. A. Boormans, G. Heleen Schuring-Blom, Gouke J. Bonsel

Publikováno v: Prenatal Diagnosis, 30, 1049-1056. John Wiley & Sons Ltd.
Prenatal diagnosis, 30(11), 1049-1056. John Wiley and Sons Ltd
Prenatal Diagnosis, 30(11), 1049-1056

Objective To determine expert consensus on which chromosomal abnormalities should and should not be detected in prenatal diagnosis, and for which abnormalities disagreement remains after structured discussion. Methods An expert panel of 24 prenatal e

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a17869449787bd2ac3ede3de7db68678
https://doi.org/10.1002/pd.2609