PMC Articles for MedGen (Select 340943) - PMC

Alain Verloes, Nataliya Di Donato, Julien Masliah-Planchon, Marjolijn Jongmans, Omar A Abdul-Raman, Beate Albrecht, Judith Allanson, Han Brunner, Debora Bertola, Nicolas Chassaing, Albert David, Koen Devriendt, Pirayeh Eftekhari, Valérie Drouin-Garraud, Francesca Faravelli, Laurence Faivre, Fabienne Giuliano, Leina Guion Almeida, Jorge Juncos, Marlies Kempers, Hatice Koçak Eker, Didier Lacombe, Angela Lin, Grazia Mancini, Daniela Melis, Charles Marques Lourenço, Victoria Mok Siu, Gilles Morin, Marjan Nezarati, Malgorzata J M Nowaczyk, Jeanette C Ramer, Sara Osimani, Nicole Philip, Mary Ella Pierpont, Vincent Procaccio, Zeichi-Seide Roseli, Massimiliano Rossi, Cristina Rusu, Yves Sznajer, Ludivine Templin, Vera Uliana, Mirjam Klaus, Bregje Van Bon, Conny Van Ravenswaaij, Bruce Wainer, Andrew E Fry, Andreas Rump, Alexander Hoischen, Séverine Drunat, Jean-Baptiste Rivière, William B Dobyns, Daniela T Pilz

Eur J Hum Genet. 2015 Mar; 23(3): 292–301. Published online 2014 Jul 23. doi: 10.1038/ejhg.2014.95

PMCID:: PMC4326722

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Select item 25645424.

A filamin A splice mutation resulting in a syndrome of facial dysmorphism, periventricular nodular heterotopia, and severe constipation reminiscent of cerebro‐fronto‐facial syndrome

U Hehr, A Hehr, G Uyanik, E Phelan, J Winkler, W Reardon

J Med Genet. 2006 Jun; 43(6): 541–544. Published online 2005 Nov 18. doi: 10.1136/jmg.2005.038505

PMCID:: PMC2564542

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Select item 95507625.

Obsessive–compulsive symptoms in ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome

Theresa Göbel, Lea Berninger, Andrea Schlump, Bernd Feige, Kimon Runge, Kathrin Nickel, Miriam A. Schiele, Ludger Tebartz van Elst, Alrun Hotz, Svenja Alter, Katharina Domschke, Andreas Tzschach, Dominique Endres

J Neural Transm (Vienna) 2022; 129(11): 1387–1391. Published online 2022 Oct 7. doi: 10.1007/s00702-022-02544-y

PMCID:: PMC9550762

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Select item 93026916.

A de novo ACTB gene pathogenic variant in identical twins with phenotypic variation for hydrops and jejunal atresia

Kristina Sibbin, Patrick Yap, Denis Nyaga, Raoul Heller, Stephen Evans, Kate Strachan, Salam Alburaiky, Han M. (Alex) Nguyen, Sylvie Hermann‐Le Denmat, Austen R. D. Ganley, Justin M. O'Sullivan, Frank H. Bloomfield

Am J Med Genet A. 2022 Apr; 188(4): 1299–1306. Published online 2021 Dec 31. doi: 10.1002/ajmg.a.62631

PMCID:: PMC9302691

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Select item 71550017.

Further delineation of putative ACTB loss‐of‐function variants: A 4‐patient series

Matthias Baumann, Erin M. Beaver, María Palomares‐Bralo, Fernando Santos‐Simarro, Peter Holzer, Gundula Povysil, Thomas Müller, Taras Valovka, Andreas R. Janecke

Hum Mutat. 2020 Apr; 41(4): 753–758. Published online 2020 Jan 16. doi: 10.1002/humu.23970

PMCID:: PMC7155001

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Select item 61859418.

Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia

Sharissa L. Latham, Nadja Ehmke, Patrick Y. A. Reinke, Manuel H. Taft, Dorothee Eicke, Theresia Reindl, Werner Stenzel, Michael J. Lyons, Michael J. Friez, Jennifer A. Lee, Ramona Hecker, Michael C. Frühwald, Kerstin Becker, Teresa M. Neuhann, Denise Horn, Evelin Schrock, Indra Niehaus, Katharina Sarnow, Konrad Grützmann, Luzie Gawehn, Barbara Klink, Andreas Rump, Christine Chaponnier, Constanca Figueiredo, Ralf Knöfler, Dietmar J. Manstein, Nataliya Di Donato

Nat Commun. 2018; 9: 4250. Published online 2018 Oct 12. doi: 10.1038/s41467-018-06713-0

Correction in:: Nat Commun. 2018; 9: 4930.

PMCID:: PMC6185941

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A novel mutation in ACTG1 can cause either isolated hearing loss or Baraitser-Winter syndrome

Andrew Kemerley, Christina M Sloan-Heggen, Wanda L Pfeifer, Richard JH Smith, Arlene V Drack

Ophthalmic Genet. Author manuscript; available in PMC 2018 Mar 1.

Published in final edited form as: Ophthalmic Genet. 2017 Mar-Apr; 38(2): 152–156. Published online 2016 Apr 20. doi: 10.3109/13816810.2016.1164196

PMCID:: PMC5722223

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Severe forms of Baraitser–Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations

N Di Donato, A Rump, R Koenig, V M Der Kaloustian, F Halal, K Sonntag, C Krause, K Hackmann, G Hahn, E Schrock, A Verloes

Eur J Hum Genet. 2014 Feb; 22(2): 179–183. Published online 2013 Jun 12. doi: 10.1038/ejhg.2013.130

PMCID:: PMC3895648

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Pathogenic Variant in ACTB, p.Arg183Trp, Causes Juvenile-Onset Dystonia, Hearing Loss, and Developmental Delay without Midline Malformation

Erin Conboy, Filippo Vairo, Darrel Waggoner, Carole Ober, Soma Das, Radhika Dhamija, Eric W. Klee, Pavel Pichurin

Case Rep Genet. 2017; 2017: 9184265. Published online 2017 Apr 12. doi: 10.1155/2017/9184265

PMCID:: PMC5405358

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Select item 101685612.

Iris coloboma, ptosis, hypertelorism, and mental retardation: a new syndrome possibly localised on chromosome 2.

R Pallotta

J Med Genet. 1991 May; 28(5): 342–344. doi: 10.1136/jmg.28.5.342

PMCID:: PMC1016856

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Select item 101542113.

Iris coloboma, ptosis, hypertelorism, and mental retardation: a new syndrome.

M Baraitser, R M Winter

J Med Genet. 1988 Jan; 25(1): 41–43. doi: 10.1136/jmg.25.1.41

PMCID:: PMC1015421

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Select item 1009969014.

Partial trisomy 9p and partial monosomy 7p of an infant inherited from maternal balanced translocation: a case report

Rui Li, Chaojie Wang, Zhenhua Zhang, Dongxiao Li, Lifeng Li, Ding Zhao, Zhaojie Xu

BMC Pediatr. 2023; 23: 168. Published online 2023 Apr 13. doi: 10.1186/s12887-023-03986-3

PMCID:: PMC10099690

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Select item 954378515.

Further characterization of Borjeson‐Forssman‐Lehmann syndrome in females due to de novo variants in PHF6

Céline B. Gerber, Anna Fliedner, Oliver Bartsch, Siren Berland, Malin Dewenter, Marte Haug, Ian Hayes, Purificacion Marin‐Reina, Paul R. Mark, Francisco Martinez‐Castellano, Isabelle Maystadt, Deniz Karadurmus, Katharina Steindl, Antje Wiesener, Markus Zweier, Heinrich Sticht, Christiane Zweier

Clin Genet. 2022 Sep; 102(3): 182–190. Published online 2022 Jun 14. doi: 10.1111/cge.14173

PMCID:: PMC9543785

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Select item 948240316.

Ten‐year follow‐up of Nicolaides–Baraitser syndrome with a de novo mutation and analysis of 58 gene loci of SMARCA2‐associated NCBRS

Xilian Zhang, Hanjiang Chen, Ying Song, Zhaoyuan Chen, Xuan Liu, Ping Rong, Rong Ma

Mol Genet Genomic Med. 2022 Sep; 10(9): e2009. Published online 2022 Jul 10. doi: 10.1002/mgg3.2009

PMCID:: PMC9482403

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Select item 895675617.

Application of array comparative genomic hybridization (aCGH) for identification of chromosomal aberrations in the recurrent pregnancy loss

Katarzyna Kowalczyk, Marta Smyk, Magdalena Bartnik-Głaska, Izabela Plaskota, Barbara Wiśniowiecka-Kowalnik, Joanna Bernaciak, Marta Chojnacka, Magdalena Paczkowska, Magdalena Niemiec, Daria Dutkiewicz, Agata Kozar, Róża Magdziak, Wojciech Krawczyk, Grzegorz Pietras, Elżbieta Michalak, Teresa Klepacka, Ewa Obersztyn, Jerzy Bal, Beata Anna Nowakowska

J Assist Reprod Genet. 2022 Feb; 39(2): 357–367. Published online 2022 Jan 26. doi: 10.1007/s10815-022-02400-8

PMCID:: PMC8956756

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Select item 884251118.

Understanding the phenotypic spectrum of ASXL-related disease: 10 cases and a review of the literature

Vishnu Anand Cuddapah, Holly A. Dubbs, Laura Adang, Steven L. Kugler, Elizabeth M. McCormick, Zarazuela Zolkipli-Cunningham, Xilma R. Ortiz-González, Shana McCormack, Elaine Zackai, Daniel J. Licht, Marni J. Falk, Eric D. Marsh

Am J Med Genet A. Author manuscript; available in PMC 2022 Jun 1.

Published in final edited form as: Am J Med Genet A. 2021 Jun; 185(6): 1700–1711. Published online 2021 Mar 10. doi: 10.1002/ajmg.a.62156

PMCID:: PMC8842511

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Select item 845769919.

Low‐level germline mosaicism of a novel SMARCA2 missense variant: Expanding the phenotypic spectrum and mode of genetic transmission

Nina Pan, Songchang Chen, Xiaoqiang Cai, Jianli Li, Tao Yu, He‐feng Huang, Jinglan Zhang, Chenming Xu

Mol Genet Genomic Med. 2021 Sep; 9(9): e1763. Published online 2021 Jul 22. doi: 10.1002/mgg3.1763

PMCID:: PMC8457699

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Select item 835769620.

Clinical characteristics of Polish patients with molecularly confirmed Mowat-Wilson syndrome

Aleksandra Jakubiak, Krzysztof Szczałuba, Magdalena Badura-Stronka, Anna Kutkowska-Kaźmierczak, Anna Jakubiuk-Tomaszuk, Tatiana Chilarska, Jacek Pilch, Natalia Braun-Walicka, Jennifer Castaneda, Katarzyna Wołyńska, Marzena Wiśniewska, Monika Kugaudo, Monika Bielecka, Karolina Pesz, Jolanta Wierzba, Anna Latos-Bieleńska, Ewa Obersztyn, Małgorzata Krajewska-Walasek, Robert Śmigiel

J Appl Genet. 2021; 62(3): 477–485. Published online 2021 May 12. doi: 10.1007/s13353-021-00636-1

PMCID:: PMC8357696

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