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Items: 1 to 20 of 36

1.
Expanding the phenotype of males with OFD1 pathogenic variants-a case report and literature review
Balram Gangaram, W. Patrick Devine, Anne Slavotinek
Eur J Med Genet. Author manuscript; available in PMC 2023 Jul 26.
Published in final edited form as: Eur J Med Genet. 2022 Jun; 65(6): 104496. Published online 2022 Apr 6. doi: 10.1016/j.ejmg.2022.104496
PMCID:
PMC10369588
ArticlePDF–1.1M
2.
An actin filament branching surveillance system regulates cell cycle progression, cytokinesis and primary ciliogenesis
Muqing Cao, Xiaoxiao Zou, Chaoyi Li, Zaisheng Lin, Ni Wang, Zhongju Zou, Youqiong Ye, Joachim Seemann, Beth Levine, Zaiming Tang, Qing Zhong
Nat Commun. 2023; 14: 1687. Published online 2023 Mar 27. doi: 10.1038/s41467-023-37340-z
PMCID:
PMC10042869
ArticlePDF–4.8M
3.
A novel non-sense variant in the OFD1 gene caused Joubert syndrome
Chen Li, Xingwang Wang, Fake Li, Hongke Ding, Ling Liu, Ying Xiong, Chaoxiang Yang, Yan Zhang, Jing Wu, Aihua Yin
Front Genet. 2022; 13: 1064762. Published online 2023 Jan 10. doi: 10.3389/fgene.2022.1064762
PMCID:
PMC9871390
ArticlePDF–3.0M
4.
Case report and a brief review: Analysis and challenges of prenatal imaging phenotypes and genotypes in Joubert syndrome
Ling-Xi Huang, Xian-Gui Lu, Jiao-Xiang Liu, Ling Xu, Ning Shang, Li Guo, Yan-Chun OuYang
Front Genet. 2022; 13: 1038274. Published online 2022 Nov 18. doi: 10.3389/fgene.2022.1038274
PMCID:
PMC9715754
ArticlePDF–1.1M
5.
OFD1: One gene, several disorders
Nunziana Pezzella, Guglielmo Bove, Roberta Tammaro, Brunella Franco
Am J Med Genet C Semin Med Genet. 2022 Mar; 190(1): 57–71. Published online 2022 Feb 2. doi: 10.1002/ajmg.c.31962
PMCID:
PMC9303915
ArticlePDF–2.5M
6.
Identification of a Novel OFD1 Variant in a Patient with Primary Ciliary Dyskinesia
Binyi Yang, Cheng Lei, Danhui Yang, Chenyang Lu, Yingjie Xu, Lin Wang, Ting Guo, Rongchun Wang, Hong Luo
Pharmgenomics Pers Med. 2022; 15: 697–704. Published online 2022 Jul 11. doi: 10.2147/PGPM.S365740
PMCID:
PMC9285985
ArticlePDF–2.8M
7.
Expanding the genetic landscape of oral‐facial‐digital syndrome with two novel genes
Alanna Strong, Laurie Simone, Anthony Krentz, Courtney Vaccaro, Deborah Watson, Hayley Ron, Jennifer M. Kalish, Helio F. Pedro, Elaine H. Zackai, Hakon Hakonarson
Am J Med Genet A. 2021 Aug; 185(8): 2409–2416. Published online 2021 Jun 15. doi: 10.1002/ajmg.a.62337
PMCID:
PMC8361718
ArticlePDF–4.8M
8.
A Case of Primary Ciliary Dyskinesia Caused by a Mutation in OFD1, Which Was Diagnosed Owing to Clostridium difficile Infection
Rina Hasegawa, Shinji Suzuki, Shigeo Nishimata, Yasuyo Kashiwagi, Natsuko Inagaki, Hisashi Kawashima
Pediatr Rep. 2021 Jun; 13(2): 241–244. Published online 2021 May 10. doi: 10.3390/pediatric13020033
PMCID:
PMC8162562
ArticlePDF–571K
9.
Regulation of autophagosome biogenesis by OFD1‐mediated selective autophagy
Manuela Morleo, Simona Brillante, Umberto Formisano, Luigi Ferrante, Fabrizia Carbone, Daniela Iaconis, Alessandro Palma, Viviana Buonomo, Angela Serena Maione, Paolo Grumati, Carmine Settembre, Brunella Franco
EMBO J. 2021 Feb 15; 40(4): e105120. Published online 2020 Dec 28. doi: 10.15252/embj.2020105120
PMCID:
PMC7883294
ArticlePDF–2.5M
10.
OFD1 mutation induced renal failure and polycystic kidney disease in a pair of childhood male twins in China
Hong-Wen Zhang, Bai-Ge Su, Yong Yao
World J Clin Cases. 2020 Jan 26; 8(2): 331–336. Published online 2020 Jan 26. doi: 10.12998/wjcc.v8.i2.331
PMCID:
PMC7000948
ArticlePDF–2.0M
11.
The expanding phenotype of OFD1‐related disorders: Hemizygous loss‐of‐function variants in three patients with primary ciliary dyskinesia
William B. Hannah, Suzanne DeBrosse, BreAnna Kinghorn, Steven Strausbaugh, Moira L. Aitken, Margaret Rosenfeld, Whitney E. Wolf, Michael R. Knowles, Maimoona A. Zariwala
Mol Genet Genomic Med. 2019 Sep; 7(9): e911. Published online 2019 Aug 1. doi: 10.1002/mgg3.911
PMCID:
PMC6732318
ArticlePDF–762K
12.
Diagnosis of Joubert Syndrome 10 in a Fetus with Suspected Dandy-Walker Variant by WES: A Novel Splicing Mutation in OFD1
Siyuan Linpeng, Jing Liu, Jianyan Pan, Yingxi Cao, Yanling Teng, Desheng Liang, Zhuo Li, Lingqian Wu
Biomed Res Int. 2018; 2018: 4032543. Published online 2018 Nov 15. doi: 10.1155/2018/4032543
PMCID:
PMC6276521
ArticlePDF–1.7M
13.
Distinct mutations with different inheritance mode caused similar retinal dystrophies in one family: a demonstration of the importance of genetic annotations in complicated pedigrees
Xue Chen, Xunlun Sheng, Yani Liu, Zili Li, Xiantao Sun, Chao Jiang, Rui Qi, Shiqin Yuan, Xuhui Wang, Ge Zhou, Yanyan Zhen, Ping Xie, Qinghuai Liu, Biao Yan, Chen Zhao
J Transl Med. 2018; 16: 145. Published online 2018 May 29. doi: 10.1186/s12967-018-1522-7
PMCID:
PMC5975579
ArticlePDF–2.4M
14.
15 years of research on Oral-Facial-Digital syndromes: from 1 to 16 causal genes
Ange-Line Bruel, Brunella Franco, Yannis Duffourd, Julien Thevenon, Laurence Jego, Estelle Lopez, Jean-François Deleuze, Diane Doummar, Rachel H. Giles, Colin A. Johnson, Martijn A. Huynen, Véronique Chevrier, Lydie Burglen, Manuela Morleo, Isabelle Desguerres, Geneviève Pierquin, Bérénice Doray, Brigitte Gilbert-Dussardier, Bruno Reversade, Elisabeth Steichen-Gersdorf, Clarisse Baumann, Inusha Panigrahi, Anne Fargeot-Espaliat, Anne Dieux, Albert David, Alice Goldenberg, Ernie Bongers, Dominique Gaillard, Jesús Argente, Bernard Aral, Nadège Gigot, Judith St-Onge, Daniel Birnbaum, Shubha R. Phadke, Valérie Cormier-Daire, Thibaut Eguether, Gregory J. Pazour, Vicente Herranz-Pérez, Jaclyn S. Lee, Laurent Pasquier, Philippe Loget, Sophie Saunier, André Mégarbané, Olivier Rosnet, Michel R. Leroux, John B. Wallingford, Oliver E. Blacque, Maxence V. Nachury, Tania Attie-Bitach, Jean-Baptiste Rivière, Laurence Faivre, Christel Thauvin-Robinet
J Med Genet. Author manuscript; available in PMC 2017 Aug 15.
Published in final edited form as: J Med Genet. 2017 Jun; 54(6): 371–380. Published online 2017 Mar 13. doi: 10.1136/jmedgenet-2016-104436
PMCID:
PMC5557276
ArticlePDF–786K
15.
Novel mutations including deletions of the entire OFD1 gene in 30 families with type I orofaciodigital syndrome: a study of the extensive clinical variability
Izak J Bisschoff, Christine Zeschnigk, Denise Horn, Brigitte Wellek, Angelika Rieß, Maja Wessels, Patrick Willems, Peter Jensen, Andreas Busche, Jens Bekkebraten, Maya Chopra, Hanne Dahlgaard Hove, Christina Evers, Ketil Heimdal, Ann-Sophie Kaiser, Erdmut Kunstmann, Kristina Lagerstedt Robinson, Maja Linné, Patricia Martin, James McGrath, Winnie Pradel, Trine E Prescott, Bernd Roesler, Gorazd Rudolf, Ulrike Siebers-Renelt, Nataliya Tyshchenko, Dagmar Wieczorek, Gerhard Wolff, William B. Dobyns, Deborah J Morris-Rosendahl
Hum Mutat. Author manuscript; available in PMC 2017 Jul 5.
Published in final edited form as: Hum Mutat. 2013 Jan; 34(1): 237–247. Published online 2012 Oct 17. doi: 10.1002/humu.22224
PMCID:
PMC5497464
ArticlePDF–739K
16.
Compound heterozygous alterations in intraflagellar transport protein CLUAP1 in a child with a novel Joubert and oral–facial–digital overlap syndrome
Jennifer J. Johnston, Chanjae Lee, Ingrid M. Wentzensen, Melissa A. Parisi, Molly M. Crenshaw, Julie C. Sapp, Jeffrey M. Gross, John B. Wallingford, Leslie G. Biesecker
Cold Spring Harb Mol Case Stud. 2017 Jul; 3(4): a001321. doi: 10.1101/mcs.a001321
PMCID:
PMC5495032
ArticlePDF–1.1M
17.
The centrosomal OFD1 protein interacts with the translation machinery and regulates the synthesis of specific targets
Daniela Iaconis, Maria Monti, Mario Renda, Arianne van Koppen, Roberta Tammaro, Marco Chiaravalli, Flora Cozzolino, Paola Pignata, Claudia Crina, Piero Pucci, Alessandra Boletta, Vincenzo Belcastro, Rachel H. Giles, Enrico Maria Surace, Simone Gallo, Mario Pende, Brunella Franco
Sci Rep. 2017; 7: 1224. Published online 2017 Apr 27. doi: 10.1038/s41598-017-01156-x
PMCID:
PMC5430665
ArticlePDF–2.9M
18.
Oral‐facial‐digital syndrome type 1 in males: Congenital heart defects are included in its phenotypic spectrum
Arjan Bouman, Mariëlle Alders, Roelof Jan Oostra, Elisabeth van Leeuwen, Nikki Thuijs, Anne‐Marie van der Kevie‐Kersemaekers, Merel van Maarle
Am J Med Genet A. 2017 May; 173(5): 1383–1389. Published online 2017 Apr 3. doi: 10.1002/ajmg.a.38179
PMCID:
PMC5413846
ArticlePDF–1.9M
19.
Abnormal glycosylation in Joubert syndrome type 10
Megan S. Kane, Mariska Davids, Michelle R. Bond, Christopher J. Adams, Megan E. Grout, Ian G. Phelps, Diana R. O’Day, Jennifer C. Dempsey, Xeuli Li, Gretchen Golas, Gilbert Vezina, Meral Gunay-Aygun, John A. Hanover, Dan Doherty, Miao He, May Christine V. Malicdan, William A. Gahl, Cornelius F. Boerkoel
Cilia. 2017; 6: 2. Published online 2017 Mar 23. doi: 10.1186/s13630-017-0048-6
PMCID:
PMC5364566
ArticlePDF–3.1M
20.
Retinitis Pigmentosa and Bilateral Idiopathic Demyelinating Optic Neuritis in a 6-Year-Old Boy with OFD1 Gene Mutation
Xun Wang, Cong Zheng, Wen Liu, Hui Yang
Case Rep Ophthalmol Med. 2017; 2017: 5310924. Published online 2017 Jan 16. doi: 10.1155/2017/5310924
PMCID:
PMC5278184
ArticlePDF–4.5M

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