PMC Articles for MedGen (Select 375801) - PMC

Select item 62306491.

Extending the critical regions for mutations in the non‐coding gene RNU4ATAC in another patient with Roifman Syndrome

Ariane Hallermayr, Janine Graf, Udo Koehler, Andreas Laner, Brigitte Schönfeld, Anna Benet‐Pagès, Elke Holinski‐Feder

Clin Case Rep. 2018 Nov; 6(11): 2224–2228. Published online 2018 Oct 11. doi: 10.1002/ccr3.1830

PMCID:: PMC6230649

Select item 56779502.

A homozygous mutation in the stem II domain of RNU4ATAC causes typical Roifman syndrome

Yael Dinur Schejter, Adi Ovadia, Roumiana Alexandrova, Bhooma Thiruvahindrapuram, Sergio L. Pereira, David E. Manson, Ajoy Vincent, Daniele Merico, Chaim M. Roifman

NPJ Genom Med. 2017; 2: 23. Published online 2017 Jul 10. doi: 10.1038/s41525-017-0024-5

PMCID:: PMC5677950

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Select item 46676433.

Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing

Daniele Merico, Maian Roifman, Ulrich Braunschweig, Ryan K. C. Yuen, Roumiana Alexandrova, Andrea Bates, Brenda Reid, Thomas Nalpathamkalam, Zhuozhi Wang, Bhooma Thiruvahindrapuram, Paul Gray, Alyson Kakakios, Jane Peake, Stephanie Hogarth, David Manson, Raymond Buncic, Sergio L. Pereira, Jo-Anne Herbrick, Benjamin J. Blencowe, Chaim M. Roifman, Stephen W. Scherer

Nat Commun. 2015; 6: 8718. Published online 2015 Nov 2. doi: 10.1038/ncomms9718

PMCID:: PMC4667643

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Select item 80346514.

Disruption of exon-bridging interactions between the minor and major spliceosomes results in alternative splicing around minor introns

Anouk M Olthof, Alisa K White, Stephen Mieruszynski, Karen Doggett, Madisen F Lee, Almahdi Chakroun, Alice K Abdel Aleem, Justine Rousseau, Cinzia Magnani, Chaim M Roifman, Philippe M Campeau, Joan K Heath, Rahul N Kanadia

Nucleic Acids Res. 2021 Apr 6; 49(6): 3524–3545. Published online 2021 Feb 28. doi: 10.1093/nar/gkab118

PMCID:: PMC8034651

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Select item 74380045.

Loss of U11 small nuclear RNA in the developing mouse limb results in micromelia

Kyle D. Drake, Christopher Lemoine, Gabriela S. Aquino, Anna M. Vaeth, Rahul N. Kanadia

Development. 2020 Nov 1; 147(21): dev190967. Published online 2020 Aug 14. doi: 10.1242/dev.190967

PMCID:: PMC7438004

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Select item 67742486.

The expanding phenotype of RNU4ATAC pathogenic variants to Lowry Wood syndrome

Laura S. Farach, Mary E. Little, Angela L. Duker, Clare V. Logan, Andrew Jackson, Jaqueline T. Hecht, Michael Bober

Am J Med Genet A. Author manuscript; available in PMC 2019 Oct 2.

Published in final edited form as: Am J Med Genet A. 2018 Feb; 176(2): 465–469. Published online 2017 Dec 19. doi: 10.1002/ajmg.a.38581

PMCID:: PMC6774248

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Select item 54738767.

Early-onset primary antibody deficiency resembling common variable immunodeficiency challenges the diagnosis of Wiedeman-Steiner and Roifman syndromes

Delfien J. Bogaert, Melissa Dullaers, Hye Sun Kuehn, Bart P. Leroy, Julie E. Niemela, Hans De Wilde, Sarah De Schryver, Marieke De Bruyne, Frauke Coppieters, Bart N. Lambrecht, Frans De Baets, Sergio D. Rosenzweig, Elfride De Baere, Filomeen Haerynck

Sci Rep. 2017; 7: 3702. Published online 2017 Jun 16. doi: 10.1038/s41598-017-02434-4

PMCID:: PMC5473876

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Select item 68005108.

New insights into minor splicing—a transcriptomic analysis of cells derived from TALS patients

Audric Cologne, Clara Benoit-Pilven, Alicia Besson, Audrey Putoux, Amandine Campan-Fournier, Michael B. Bober, Christine E.M. De Die-Smulders, Aimee D.C. Paulussen, Lucile Pinson, Annick Toutain, Chaim M. Roifman, Anne-Louise Leutenegger, Sylvie Mazoyer, Patrick Edery, Vincent Lacroix

RNA. 2019 Sep; 25(9): 1130–1149. doi: 10.1261/rna.071423.119

PMCID:: PMC6800510

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Select item 99928389.

Deficiency of the minor spliceosome component U4atac snRNA secondarily results in ciliary defects in human and zebrafish

Deepak Khatri, Audrey Putoux, Audric Cologne, Sophie Kaltenbach, Alicia Besson, Eloïse Bertiaux, Justine Guguin, Adèle Fendler, Marie A. Dupont, Clara Benoit-Pilven, Leila Qebibo, Samira Ahmed-Elie, Séverine Audebert-Bellanger, Pierre Blanc, Thomas Rambaud, Martin Castelle, Gaëlle Cornen, Sarah Grotto, Agnès Guët, Laurent Guibaud, Caroline Michot, Sylvie Odent, Lyse Ruaud, Elise Sacaze, Virginie Hamel, Rémy Bordonné, Anne-Louise Leutenegger, Patrick Edery, Lydie Burglen, Tania Attié-Bitach, Sylvie Mazoyer, Marion Delous

Proc Natl Acad Sci U S A. 2023 Feb 28; 120(9): e2102569120. Published online 2023 Feb 21. doi: 10.1073/pnas.2102569120

PMCID:: PMC9992838

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Select item 911058910.

Efficacy and Safety of Using Noninsulated Microneedle Radiofrequency Alone versus in Combination with Polynucleotides for Treatment of Periorbital Wrinkles

Yuri Yogya, Rungsima Wanitphakdeedecha, Supisara Wongdama, Yanisorn Nanchaipruek, Chadakan Yan, Sarawalai Rakchart

Dermatol Ther (Heidelb) 2022 May; 12(5): 1133–1145. Published online 2022 Apr 30. doi: 10.1007/s13555-022-00729-7

PMCID:: PMC9110589

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Select item 804862011.

An evaluation of electrocoagulation and thermal diffusion following radiofrequency microneedling using an in vivo porcine skin model

Shaun Wootten, Zosia E. Zawacki, Lawrence Rheins, Carol Meschter, Zoe Diana Draelos

J Cosmet Dermatol. 2021 Apr; 20(4): 1133–1139. Published online 2020 Sep 7. doi: 10.1111/jocd.13690

PMCID:: PMC8048620

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Select item 487805912.

Primary immunodeficiencies associated with eosinophilia

Behdad Navabi, Julia Elizabeth Mainwaring Upton

Allergy Asthma Clin Immunol. 2016; 12: 27. Published online 2016 May 24. doi: 10.1186/s13223-016-0130-4

PMCID:: PMC4878059

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Select item 550186913.

A Fast Association Test for Identifying Pathogenic Variants Involved in Rare Diseases

Daniel Greene, NIHR BioResource, Sylvia Richardson, Ernest Turro

Am J Hum Genet. 2017 Jul 6; 101(1): 104–114. Published online 2017 Jun 29. doi: 10.1016/j.ajhg.2017.05.015

PMCID:: PMC5501869

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Select item 858010014.

Case report of the first molecular diagnosis of Stickler syndrome with a pathogenic COL2A1 variant in a Mongolia family

Hong Wu, Songtian Che, Shuchun Li, Yan Cheng, Jun Xiao, Zaoxia Liu

Mol Genet Genomic Med. 2021 Oct; 9(10): e1781. Published online 2021 Aug 18. doi: 10.1002/mgg3.1781

PMCID:: PMC8580100

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Select item 810417615.

Clinical and genetic characterization of autosomal recessive stickler syndrome caused by novel compound heterozygous mutations in the COL9A3 gene

Tatiana Markova, Peter Sparber, Artem Borovikov, Tatiana Nagornova, Elena Dadali

Mol Genet Genomic Med. 2021 Mar; 9(3): e1620. Published online 2021 Feb 11. doi: 10.1002/mgg3.1620

PMCID:: PMC8104176

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Select item 795628216.

New Insights on the Genetic Basis Underlying SHILCA Syndrome: Characterization of the NMNAT1 Pathological Alterations Due to Compound Heterozygous Mutations and Identification of a Novel Alternative Isoform

Víctor Abad-Morales, Ana Wert, María Ángeles Ruiz Gómez, Rafael Navarro, Esther Pomares

Int J Mol Sci. 2021 Mar; 22(5): 2262. Published online 2021 Feb 24. doi: 10.3390/ijms22052262

PMCID:: PMC7956282

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Select item 557409417.

A novel mutation in the COL2A1 gene in a patient with Stickler syndrome type 1: a case report and review of the literature

Yousuke Higuchi, Kosei Hasegawa, Miho Yamashita, Hiroyuki Tanaka, Hirokazu Tsukahara

J Med Case Rep. 2017; 11: 237. Published online 2017 Aug 26. doi: 10.1186/s13256-017-1396-y

PMCID:: PMC5574094

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Select item 507090118.

The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype

Mouna Barat-Houari, Bruno Dumont, Aurélie Fabre, Frédéric TM Them, Yves Alembik, Jean-Luc Alessandri, Jeanne Amiel, Séverine Audebert, Clarisse Baumann-Morel, Patricia Blanchet, Eric Bieth, Marie Brechard, Tiffany Busa, Patrick Calvas, Yline Capri, François Cartault, Nicolas Chassaing, Vidrica Ciorca, Christine Coubes, Albert David, Anne-Lise Delezoide, Delphine Dupin-Deguine, Salima El Chehadeh, Laurence Faivre, Fabienne Giuliano, Alice Goldenberg, Bertrand Isidor, Marie-Line Jacquemont, Sophie Julia, Josseline Kaplan, Didier Lacombe, Marine Lebrun, Sandrine Marlin, Dominique Martin-Coignard, Jelena Martinovic, Alice Masurel, Judith Melki, Monique Mozelle-Nivoix, Karine Nguyen, Sylvie Odent, Nicole Philip, Lucile Pinson, Ghislaine Plessis, Chloé Quélin, Elise Shaeffer, Sabine Sigaudy, Christel Thauvin, Marianne Till, Renaud Touraine, Jacqueline Vigneron, Geneviève Baujat, Valérie Cormier-Daire, Martine Le Merrer, David Geneviève, Isabelle Touitou

Eur J Hum Genet. 2016 Jul; 24(7): 992–1000. Published online 2015 Dec 2. doi: 10.1038/ejhg.2015.250

PMCID:: PMC5070901

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Select item 173436219.

Clinical and molecular genetics of Stickler syndrome

M. Snead, J. Yates

J Med Genet. 1999 May; 36(5): 353–359.

PMCID:: PMC1734362

Summary PDF–169K Cite

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