Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies

Authors: Jil D. Stegmann, Jeshurun C. Kalanithy, Gabriel C. Dworschak, Nina Ishorst, Enrico Mingardo, Filipa M. Lopes, Yee Mang Ho, Phillip Grote, Tobias T. Lindenberg, Öznur Yilmaz, Khadija Channab, Steve Seltzsam, Shirlee Shril, Friedhelm Hildebrandt, Felix Boschann, André Heinen, Angad Jolly, Katherine Myers, Kim McBride, Mir Reza Bekheirnia, Nasim Bekheirnia, Marcello Scala, Manuela Morleo, Vincenzo Nigro, Annalaura Torella, TUDP consortium, Michele Pinelli, Valeria Capra, Andrea Accogli, Silvia Maitz, Alice Spano, Rory J. Olson, Eric W. Klee, Brendan C. Lanpher, Se Song Jang, Jong-Hee Chae, Philipp Steinbauer, Dietmar Rieder, Andreas R. Janecke, Julia Vodopiutz, Ida Vogel, Jenny Blechingberg, Jennifer L. Cohen, Kacie Riley, Victoria Klee, Laurence E. Walsh, Matthias Begemann, Miriam Elbracht, Thomas Eggermann, Arzu Stoppe, Kyra Stuurman, Marjon van Slegtenhorst, Tahsin Stefan Barakat, Maureen S. Mulhern, Tristan T. Sands, Cheryl Cytrynbaum, Rosanna Weksberg, Federica Isidori, Tommaso Pippucci, Giulia Severi, Francesca Montanari, Michael C. Kruer, Somayeh Bakhtiari, Hossein Darvish, Heiko Reutter, Gregor Hagelueken, Matthias Geyer, Adrian S. Woolf, Jennifer E. Posey, James R. Lupski, Benjamin Odermatt, Alina C. Hilger

Source: npj Genomic Medicine, Vol 9, Iss 1, Pp 1-12 (2024)

Subject Terms: Medicine, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/2056-7944

Access URL: https://doaj.org/article/70ae196c8ca74a8b9e9771ee7476f1a8

Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes

Authors: Robert Schöpflin, Uirá Souto Melo, Hossein Moeinzadeh, David Heller, Verena Laupert, Jakob Hertzberg, Manuel Holtgrewe, Nico Alavi, Marius-Konstantin Klever, Julius Jungnitsch, Emel Comak, Seval Türkmen, Denise Horn, Yannis Duffourd, Laurence Faivre, Patrick Callier, Damien Sanlaville, Orsetta Zuffardi, Romano Tenconi, Nehir Edibe Kurtas, Sabrina Giglio, Bettina Prager, Anna Latos-Bielenska, Ida Vogel, Merete Bugge, Niels Tommerup, Malte Spielmann, Antonio Vitobello, Vera M. Kalscheuer, Martin Vingron, Stefan Mundlos

Source: Nature Communications, Vol 13, Iss 1, Pp 1-15 (2022)

Subject Terms: Science

File Description: electronic resource

Relation: https://doaj.org/toc/2041-1723

Access URL: https://doaj.org/article/dc4bcc3fd9a94543a5c2f94cf91155fd

Clinical interpretation of cell-based non-invasive prenatal testing for monogenic disorders including repeat expansion disorders: potentials and pitfalls

Authors: Line Dahl Jeppesen, Lotte Hatt, Ripudaman Singh, Palle Schelde, Katarina Ravn, Christian Liebst Toft, Maria Bach Laursen, Jakob Hedegaard, Inga Baasch Christensen, Bolette Hestbek Nicolaisen, Lotte Andreasen, Lars Henning Pedersen, Ida Vogel, Dorte Launholt Lildballe

Source: Frontiers in Genetics, Vol 14 (2023)

Subject Terms: noninvasive prenatal testing, fetal cells, extravillous trophoblasts, monogenic disorders, repeat expansion disorders, clinical interpretation, Genetics, QH426-470

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2023.1188472/full; https://doaj.org/toc/1664-8021

Access URL: https://doaj.org/article/1de434c9e29148f39b2d71fd2aed3f72

Experiences and attitudes of Danish men who were sperm donors more than 10 years ago; a qualitative interview study

Authors: Stina Lou, Stina Bollerup, Morten Deleuran Terkildsen, Stine Willum Adrian, Allan Pacey, Guido Pennings, Ida Vogel, Anne-Bine Skytte

Source: PLoS ONE, Vol 18, Iss 2 (2023)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9931114/?tool=EBI; https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/d1701b55bf114286a71d73826d93a4c7

Incidental finding of maternal malignancy in an unusual non‐invasive prenatal test and a review of similar cases

Authors: Maria Hammer Moellgaard, Ida Charlotte Bay Lund, Naja Becher, Anne‐Bine Skytte, Lotte Andreasen, Malgorzata Ilona Srebniak, Ida Vogel

Source: Clinical Case Reports, Vol 10, Iss 10, Pp n/a-n/a (2022)

Subject Terms: cell‐free DNA, fetal diagnostics, genetics, malignancy, NIPT, prenatal diagnostics, Medicine, Medicine (General), R5-920

File Description: electronic resource

Relation: https://doaj.org/toc/2050-0904

Access URL: https://doaj.org/article/e1a2f75429bd40d78b10fdd624c2cbda

A novel homozygous variant in C1QBP causes severe IUGR, edema, and cardiomyopathy in two fetuses

Authors: Morten Alstrup, Ida Vogel, Puk Sandager, Jenny Blechingberg, Naja Becher, Elsebet Østergaard

Source: JIMD Reports, Vol 59, Iss 1, Pp 20-25 (2021)

Subject Terms: C1QBP, cardiomyopathy, IUGR, mitochondrial, prenatal phenotype, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/2192-8312

Access URL: https://doaj.org/article/3a27870e6e52468cb9e9eb302ca6ca16

Cell‐based noninvasive prenatal testing (cbNIPT) detects pathogenic copy number variations

Authors: Lotte Hatt, Ripudaman Singh, Rikke Christensen, Katarina Ravn, Inga B Christensen, Line Dahl Jeppesen, Bolette Hestbek Nicolaisen, Mathias Kølvraa, Palle Schelde, Lotte Andreassen, Richard Farlie, Niels Uldbjerg, Ida Vogel

Source: Clinical Case Reports, Vol 8, Iss 12, Pp 2561-2567 (2020)

Subject Terms: 3p deletion, 3p26 deletion, cell‐based noninvasive prenatal testing, copy number variation, Noninvasive prenatal testing, Prader‐Willi syndrome, Medicine, Medicine (General), R5-920

File Description: electronic resource

Relation: https://doaj.org/toc/2050-0904

Access URL: https://doaj.org/article/49ba351be5324a298550ce58e81a9ef7

Cell-Based NIPT Detects 47,XXY Genotype in a Twin Pregnancy

Authors: Line Dahl Jeppesen, Tina Duelund Hjortshøj, Johnny Hindkjær, Lotte Hatt, Olav Bjørn Petersen, Ripudaman Singh, Palle Schelde, Lotte Andreasen, Rikke Christensen, Dorte L. Lildballe, Ida Vogel

Source: Frontiers in Genetics, Vol 13 (2022)

Subject Terms: cell-based NIPT, circulating fetal cells, extravillous trophoblasts, cell-free NIPT, sex chromosome anomaly, twin pregnancy, Genetics, QH426-470

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2022.842092/full; https://doaj.org/toc/1664-8021

Access URL: https://doaj.org/article/6d8ecfc0f11141ca99712dbd0659adde

Assessing women's preferences towards tests that may reveal uncertain results from prenatal genomic testing: Development of attributes for a discrete choice experiment, using a mixed-methods design.

Authors: Jennifer Hammond, Jasmijn E Klapwijk, Sam Riedijk, Stina Lou, Kelly E Ormond, Ida Vogel, Lisa Hui, Emma-Jane Sziepe, James Buchanan, Charlotta Ingvoldstad-Malmgren, Maria Johansson Soller, Eleanor Harding, Melissa Hill, Celine Lewis

Source: PLoS ONE, Vol 17, Iss 1, p e0261898 (2022)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/9d1157129095401b99b936452baba713

A novel nonsense variant in MED12 associated with malformations in a female fetus

Authors: Soren Lejsted Faergeman, Naja Becher, Lotte Andreasen, Marianne Christiansen, Lise Frost, Ida Vogel

Source: Clinical Case Reports, Vol 9, Iss 12, Pp n/a-n/a (2021)

Subject Terms: exome sequencing, malformation, MED12 deficiency, prenatal diagnosis, X‐linked, Medicine, Medicine (General), R5-920

File Description: electronic resource

Relation: https://doaj.org/toc/2050-0904

Access URL: https://doaj.org/article/c237c63c9dd44d39b4253d4391edc328

Trends in Non-invasive Prenatal Screening and Invasive Testing in Denmark (2000–2019) and Israel (2011–2019)

Authors: Lena Sagi-Dain, Amihood Singer, Olav B. Petersen, Stina Lou, Ida Vogel

Source: Frontiers in Medicine, Vol 8 (2021)

Subject Terms: chromosomal microarray analysis, chromosome aberration, prenatal testing, non-invasive prenatal screening, invasive testing, Medicine (General), R5-920

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fmed.2021.768997/full; https://doaj.org/toc/2296-858X

Access URL: https://doaj.org/article/837d6e54c04e4c5eab9a6e01afad5d31

Screening for Fetal Aneuploidy and Sex Chromosomal Anomalies in a Pregnant Woman With Mosaicism for Turner Syndrome—Applications and Advantages of Cell-Based NIPT

Authors: Line Dahl Jeppesen, Lotte Hatt, Ripudaman Singh, Palle Schelde, Lotte Andreasen, Sara Markholt, Dorte L. Lildballe, Ida Vogel

Source: Frontiers in Genetics, Vol 12 (2021)

Subject Terms: cell-based noninvasive prenatal testing, sex chromosomal aneuploidies, turner mosaic, non-invasive prenatal testing, extravillous trophoblast, Genetics, QH426-470

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2021.741752/full; https://doaj.org/toc/1664-8021

Access URL: https://doaj.org/article/7bdc4b9dc2404e16a69b3606a25e3759

Encounters with Public and Professional Understandings of Down Syndrome: A Qualitative Study of Parents' Experiences

Authors: Ellen H. Steffensen (ORCID 0000-0003-0216-9646), Stephanie L. Santoro (ORCID 0000-0002-4172-0288), Lars H. Pedersen, Ida Vogel, Stina Lou

Source: Journal of Applied Research in Intellectual Disabilities. 2024 37(3).

Peer Reviewed: Y

Page Count: 9

Descriptors: Down Syndrome, Parents, Professional Personnel, Knowledge Level, Attitudes toward Disabilities, Labeling (of Persons), Negative Attitudes, Foreign Countries, Public Opinion

Geographic Terms: Denmark

Danish Sonographers’ Experiences of the Introduction of 'Moderate Risk' in Prenatal Screening for Down Syndrome

Authors: Anne Møller, Ida Vogel, Olav Bjørn Petersen, Stina Lou

Source: Journal of Pregnancy, Vol 2018 (2018)

Subject Terms: Gynecology and obstetrics, RG1-991

File Description: electronic resource

Relation: https://doaj.org/toc/2090-2727; https://doaj.org/toc/2090-2735

Access URL: https://doaj.org/article/a190c10dac1b4237b09cb4f79fb805c4

PSCC: sensitive and reliable population-scale copy number variation detection method based on low coverage sequencing.

Authors: Xuchao Li, Shengpei Chen, Weiwei Xie, Ida Vogel, Kwong Wai Choy, Fang Chen, Rikke Christensen, Chunlei Zhang, Huijuan Ge, Haojun Jiang, Chang Yu, Fang Huang, Wei Wang, Hui Jiang, Xiuqing Zhang

Source: PLoS ONE, Vol 9, Iss 1, p e85096 (2014)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/24465483/?tool=EBI; https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/a735b02f41bf491b950a9345b85c6c80

Goblet Cell Carcinoid in a Patient with Neurofibromatosis Type 1: A Rare Combination

Authors: Tine Gregersen, Nanna Holt, Henning Gronbaek, Ida Vogel, Lars J. Jørgensen, Klaus Krogh

Source: Case Reports in Gastrointestinal Medicine, Vol 2012 (2012)

Subject Terms: Diseases of the digestive system. Gastroenterology, RC799-869

File Description: electronic resource

Relation: https://doaj.org/toc/2090-6528; https://doaj.org/toc/2090-6536

Access URL: https://doaj.org/article/3d60523391e545538248e047ac56d53e

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