PMC Articles for MedGen (Select 420203) - PMC

Select item 95591161.

INTS13 variants causing a recessive developmental ciliopathy disrupt assembly of the Integrator complex

Lauren G. Mascibroda, Mohammad Shboul, Nathan D. Elrod, Laurence Colleaux, Hanan Hamamy, Kai-Lieh Huang, Natoya Peart, Moirangthem Kiran Singh, Hane Lee, Barry Merriman, Jeanne N. Jodoin, Poojitha Sitaram, Laura A. Lee, Raja Fathalla, Baeth Al-Rawashdeh, Osama Ababneh, Mohammad El-Khateeb, Nathalie Escande-Beillard, Stanley F. Nelson, Yixuan Wu, Liang Tong, Linda J. Kenney, Sudipto Roy, William K. Russell, Jeanne Amiel, Bruno Reversade, Eric J. Wagner

Nat Commun. 2022; 13: 6054. Published online 2022 Oct 13. doi: 10.1038/s41467-022-33547-8

PMCID:: PMC9559116

Abstract Article PDF–4.0M

Select item 68593972.

An Orofaciodigital Syndrome 1 Patient and Her Mother Carry the Same OFD1 Mutation but Have Different X Chromosome Inactivation Patterns

Takashi Iijima, Noriko Hayami, Kenmei Takaichi, Naoya Morisada, Kandai Nozu, Kazumoto Iijima, Naoki Sawa, Junichi Hoshino, Yoshifumi Ubara

Intern Med. 2019 Oct 15; 58(20): 2989–2992. Published online 2019 Jun 27. doi: 10.2169/internalmedicine.2571-18

PMCID:: PMC6859397

Abstract Article PDF–792K

Select item 58147343.

A loss‐of‐function homozygous mutation in DDX59 implicates a conserved DEAD‐box RNA helicase in nervous system development and function

Vincenzo Salpietro, Stephanie Efthymiou, Andreea Manole, Bhawana Maurya, Sarah Wiethoff, Balasubramaniem Ashokkumar, Maria Concetta Cutrupi, Valeria Dipasquale, Sara Manti, Juan A. Botia, Mina Ryten, Jana Vandrovcova, Oscar D. Bello, Conceicao Bettencourt, Kshitij Mankad, Ashim Mukherjee, Mousumi Mutsuddi, Henry Houlden

Hum Mutat. 2018 Feb; 39(2): 187–192. Published online 2017 Nov 27. doi: 10.1002/humu.23368

PMCID:: PMC5814734

Abstract Article PDF–763K

Select item 57657604.

Autosomal Recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangia

Julien Thevenon, Laurence Duplomb, Shubha Phadke, Thibaut Eguether, Aline Saunier, Magali Avila, Virginie Carmignac, Ange-Line Bruel, Judith St-Onge, Yannis Duffourd, Gregory J. Pazour, Brunella Franco, Tania Attie-Bitach, Alice Masurel-Paulet, Jean-Baptiste Rivière, Valérie Cormier-Daire, Christophe Philippe, Laurence Faivre, Christel Thauvin-Robinet

Clin Genet. Author manuscript; available in PMC 2018 Jan 12.

Published in final edited form as: Clin Genet. 2016 Dec; 90(6): 509–517. Published online 2016 Apr 29. doi: 10.1111/cge.12785

PMCID:: PMC5765760

Abstract Article PDF–906K

Select item 47942475.

MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone

Chunmei Li, Victor L. Jensen, Kwangjin Park, Julie Kennedy, Francesc R. Garcia-Gonzalo, Marta Romani, Roberta De Mori, Ange-Line Bruel, Dominique Gaillard, Bérénice Doray, Estelle Lopez, Jean-Baptiste Rivière, Laurence Faivre, Christel Thauvin-Robinet, Jeremy F. Reiter, Oliver E. Blacque, Enza Maria Valente, Michel R. Leroux

PLoS Biol. 2016 Mar; 14(3): e1002416. Published online 2016 Mar 16. doi: 10.1371/journal.pbio.1002416

PMCID:: PMC4794247

Abstract Article PDF–8.5M

Select item 34155386.

TCTN3 Mutations Cause Mohr-Majewski Syndrome

Sophie Thomas, Marine Legendre, Sophie Saunier, Bettina Bessières, Caroline Alby, Maryse Bonnière, Annick Toutain, Laurence Loeuillet, Katarzyna Szymanska, Frédérique Jossic, Dominique Gaillard, Mohamed Tahar Yacoubi, Soumaya Mougou-Zerelli, Albert David, Marie-Anne Barthez, Yves Ville, Christine Bole-Feysot, Patrick Nitschke, Stanislas Lyonnet, Arnold Munnich, Colin A. Johnson, Férechté Encha-Razavi, Valérie Cormier-Daire, Christel Thauvin-Robinet, Michel Vekemans, Tania Attié-Bitach

Am J Hum Genet. 2012 Aug 10; 91(2): 372–378. doi: 10.1016/j.ajhg.2012.06.017

PMCID:: PMC3415538

Abstract Article PDF–714K

Select item 34067597.

Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23)

Tom R. Webb, David A. Parfitt, Jessica C. Gardner, Ariadna Martinez, Dalila Bevilacqua, Alice E. Davidson, Ilaria Zito, Dawn L. Thiselton, Jacob H.C. Ressa, Marina Apergi, Nele Schwarz, Naheed Kanuga, Michel Michaelides, Michael E. Cheetham, Michael B. Gorin, Alison J. Hardcastle

Hum Mol Genet. 2012 Aug 15; 21(16): 3647–3654. Published online 2012 May 22. doi: 10.1093/hmg/dds194

PMCID:: PMC3406759

Abstract Article PDF–218K

Select item 25645048.

Clinical, molecular, and genotype–phenotype correlation studies from 25 cases of oral–facial–digital syndrome type 1: a French and Belgian collaborative study

C Thauvin‐Robinet, M Cossée, V Cormier‐Daire, L Van Maldergem, A Toutain, Y Alembik, E Bieth, V Layet, P Parent, A David, A Goldenberg, G Mortier, D Héron, P Sagot, A M Bouvier, F Huet, V Cusin, A Donzel, D Devys, J R Teyssier

J Med Genet. 2006 Jan; 43(1): 54–61. doi: 10.1136/jmg.2004.027672

PMCID:: PMC2564504

Abstract Article PDF–498K

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