Výsledky vyhledávání - "Ingrid, Bader"

Akademický článek

A recurrent single-amino acid deletion (p.Glu500del) in the head domain of ß-cardiac myosin in two unrelated boys presenting with polyhydramnios, congenital axial stiffness and skeletal myopathy

Autor: Ingrid Bader, M. Freilinger, F. Landauer, S. Waldmüller, W. Mueller-Felber, C. Rauscher, W. Sperl, R. E. Bittner, W. M. Schmidt, J. A. Mayr

Publikováno v: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-10 (2022)

Abstract Background Alterations in the MYH7 gene can cause cardiac and skeletal myopathies. MYH7-related skeletal myopathies are extremely rare, and the vast majority of causal variants in the MYH7 gene are predicted to alter the rod domain of the of

Externí odkaz: https://doaj.org/article/3788b27f1fac4656b0974f853cbcc19d

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Akademický článek

Severe syndromic ID and skewed X-inactivation in a girl with NAA10 dysfunction and a novel heterozygous de novo NAA10 p.(His16Pro) variant - a case report

Autor: Ingrid Bader, Nina McTiernan, Christine Darbakk, Eugen Boltshauser, Rasmus Ree, Sabine Ebner, Johannes A. Mayr, Thomas Arnesen

Publikováno v: BMC Medical Genetics, Vol 21, Iss 1, Pp 1-9 (2020)

Abstract Background NAA10 is the catalytic subunit of the major N-terminal acetyltransferase complex NatA which acetylates almost half the human proteome. Over the past decade, many NAA10 missense variants have been reported as causative of genetic d

Externí odkaz: https://doaj.org/article/27b4b3c30e91454e8be7e2d1f8050d7b

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Akademický článek

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Autor: Lot Snijders Blok, Justine Rousseau, Joanna Twist, Sophie Ehresmann, Motoki Takaku, Hanka Venselaar, Lance H. Rodan, Catherine B. Nowak, Jessica Douglas, Kathryn J. Swoboda, Marcie A. Steeves, Inderneel Sahai, Connie T. R. M. Stumpel, Alexander P. A. Stegmann, Patricia Wheeler, Marcia Willing, Elise Fiala, Aaina Kochhar, William T. Gibson, Ana S. A. Cohen, Ruky Agbahovbe, A. Micheil Innes, P. Y. Billie Au, Julia Rankin, Ilse J. Anderson, Steven A. Skinner, Raymond J. Louie, Hannah E. Warren, Alexandra Afenjar, Boris Keren, Caroline Nava, Julien Buratti, Arnaud Isapof, Diana Rodriguez, Raymond Lewandowski, Jennifer Propst, Ton van Essen, Murim Choi, Sangmoon Lee, Jong H. Chae, Susan Price, Rhonda E. Schnur, Ganka Douglas, Ingrid M. Wentzensen, Christiane Zweier, André Reis, Martin G. Bialer, Christine Moore, Marije Koopmans, Eva H. Brilstra, Glen R. Monroe, Koen L. I. van Gassen, Ellen van Binsbergen, Ruth Newbury-Ecob, Lucy Bownass, Ingrid Bader, Johannes A. Mayr, Saskia B. Wortmann, Kathy J. Jakielski, Edythe A. Strand, Katja Kloth, Tatjana Bierhals, The DDD study, John D. Roberts, Robert M. Petrovich, Shinichi Machida, Hitoshi Kurumizaka, Stefan Lelieveld, Rolph Pfundt, Sandra Jansen, Pelagia Deriziotis, Laurence Faivre, Julien Thevenon, Mirna Assoum, Lawrence Shriberg, Tjitske Kleefstra, Han G. Brunner, Paul A. Wade, Simon E. Fisher, Philippe M. Campeau

Publikováno v: Nature Communications, Vol 10, Iss 1, Pp 1-4 (2019)

The HTML and PDF versions of this Article were updated after publication to remove images of one individual from Figure 1.

Externí odkaz: https://doaj.org/article/360ad6a6ef7c4ee28aed4090b30bd7e5

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Akademický článek

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Publikováno v: Nature Communications, Vol 9, Iss 1, Pp 1-12 (2018)

Chromodomain Helicase DNA-binding (CHD) proteins have been implicated in neurodevelopmental processes. Here, the authors identify missense variants in CHD3 that disturb its chromatin remodeling activities and cause a neurodevelopmental disorder with

Externí odkaz: https://doaj.org/article/2f149b8196854879821d3ece66218bf2

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Stankiewicz-Isidor syndrome

Autor: Ignacio Briceño, Frédéric Ebstein, Alberto Gómez, Heidi Cope, Wallid Deb, Krzysztof Szczaluba, Hutton M. Kearney, Dominique Bonneau, Elke Krüger, Marie Vincent, Jill A. Rosenfeld, Karin E. M. Diderich, Dominique Bourgeois, Kay Metcalfe, Bryce A. Mendelssohn, Magalie Barth, Solène Conrad, Alanna Strong, Patrick R. Blackburn, Amanda Gerard, McKinsey L. Goodenberger, Benjamin Cogné, Geneviève Baujat, Caroline Camby, Thomas Besnard, Natasha L. Rudy, Karin Dahan, Estelle Colin, Carlos A. Bacino, Caleb Bupp, Christel Thauvin-Robinet, Yolande van Bever, Rafał Płoski, Anne de Saint Martin, Johannes A. Mayr, Ingrid Bader, Yong-Hui Jiang, Virginie Vignard, Kathryn Warren, Judith D. Ranells, Yves Alembik, Joanna Kennedy, Stéphane Bézieau, Bertrand Isidor, Anna C.E. Hurst, Amélie Piton, Sébastien Küry, Ange-Line Bruel, PaweƗ Stankiewicz, Ingrid Scurr, Anja Brehm

Publikováno v: Genetics in Medicine, 24(1), 179-191. Lippincott Williams & Wilkins

Purpose: Haploinsufficiency of PSMD12 has been reported in individuals with neurodevelopmental phenotypes, including developmental delay/intellectual disability (DD/ID), facial dysmorphism, and congenital malformations, defined as Stankiewicz-Isidor

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fe93b9215b6df69ad91303661d9126b0
https://doi.org/10.1016/j.gim.2021.09.005

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Molekulare und funktionale Abklärung hereditärer Schwerhörigkeiten am Beispiel des SLC26A4-Gens

Autor: Gregor Schweighofer-Zwink, Ingrid Bader, Saskia B. Wortmann, Silvia Dossena, Emanuele Bernardinelli, Sebastian Roesch, Johannes A. Mayr, Gerd Rasp

Publikováno v: Laryngo-Rhino-Otologie. 99:853-862

ZusammenfassungDie in den vergangenen Jahren zunehmende Verfügbarkeit molekularer Untersuchungstechniken führt zu einer steigenden Anzahl diagnostizierter genetischer Varianten im Genom untersuchter Patienten. Am Beispiel der hereditären Innenohrs

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::2e02b67d3e0ad5e5f11abb99f9f37842
https://doi.org/10.1055/a-1190-4173

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Biallelic

Autor: Sara, Carvalhal, Ingrid, Bader, Martin A, Rooimans, Anneke B, Oostra, Jesper A, Balk, René G, Feichtinger, Christine, Beichler, Michael R, Speicher, Johanna M, van Hagen, Quinten, Waisfisz, Mieke, van Haelst, Martijn, Bruijn, Alexandra, Tavares, Johannes A, Mayr, Rob M F, Wolthuis, Raquel A, Oliveira, Job, de Lange

Publikováno v: Science Advances

Budding uninhibited by benzimidazoles (BUB1) contributes to multiple mitotic processes. Here, we describe the first two patients with biallelic BUB1 germline mutations, who both display microcephaly, intellectual disability, and several patient-speci

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::f78dfdf066237826698f3c845e9c86b3
https://pubmed.ncbi.nlm.nih.gov/35044816

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Genotype-Phenotype Comparison in POGZ-Related Neurodevelopmental Disorders by Using Clinical Scoring

Publikováno v: Nagy, D, Verheyen, S, Wigby, K M, Borovikov, A, Sharkov, A, Slegesky, V, Larson, A, Fagerberg, C, Brasch-Andersen, C, Kibæk, M, Bader, I, Hernan, R, High, F A, Chung, W K, Schieving, J H, Behunova, J, Smogavec, M, Laccone, F, Witsch-Baumgartner, M, Zobel, J, Duba, H C & Weis, D 2022, ' Genotype-Phenotype Comparison in POGZ-Related Neurodevelopmental Disorders by Using Clinical Scoring ', Genes, vol. 13, no. 1, 154 . https://doi.org/10.3390/genes13010154
Genes, Vol 13, Iss 154, p 154 (2022)
Genes
Genes, 13
Genes; Volume 13; Issue 1; Pages: 154
Genes, 13, 1

Contains fulltext : 248217.pdf (Publisher’s version ) (Open Access) POGZ-related disorders (also known as White-Sutton syndrome) encompass a wide range of neurocognitive abnormalities and other accompanying anomalies. Disease severity varies widely

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca05a0f3c931696be7d3915fe5458505
https://doi.org/10.3390/genes13010154

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