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Items: 1 to 20 of 303

1.
ERS Task Force guideline for the diagnosis of primary ciliary dyskinesia
JS Lucas, A Barbato, SA Collins, M Goutaki, L Behan, D Caudri, S Dell, E Eber, E Escudier, RA Hirst, C Hogg, M Jorissen, P Latzin, M Legendre, MW Leigh, F Midulla, KG Nielsen, H Omran, JF Papon, P Pohunek, B Redfern, D Rigau, B Rindlisbacher, F Santamaria, A Shoemark, D Snijders, T Tonia, A Titieni, WT Walker, C Werner, A Bush, CE Kuehni
Eur Respir J. Author manuscript; available in PMC 2018 Jul 20.
Published in final edited form as: Eur Respir J. 2017 Jan; 49(1): 1601090. Published online 2017 Jan 4. doi: 10.1183/13993003.01090-2016
PMCID:
PMC6054534
AbstractArticlePDF–932K
2.
Defective airway intraflagellar transport underlies a combined motile and primary ciliopathy syndrome caused by IFT74 mutations
Mahmoud R Fassad, Nisreen Rumman, Katrin Junger, Mitali P Patel, James Thompson, Patricia Goggin, Marius Ueffing, Tina Beyer, Karsten Boldt, Jane S Lucas, Hannah M Mitchison
Hum Mol Genet. 2023 Nov 1; 32(21): 3090–3104. Published online 2023 Aug 9. doi: 10.1093/hmg/ddad132
PMCID:
PMC10586200
AbstractArticlePDF–2.0M
3.
First reports of primary ciliary dyskinesia caused by a shared DNAH11 allele in Canadian Inuit
Julia Hunter‐Schouela, Michael T. Geraghty, Robert A. Hegele, David A. Dyment, David St Pierre, Julie Richer, Holden Sheffield, Maimoona A. Zariwala, Michael R. Knowles, Anna Lehman, Sharon Dell, Adam J. Shapiro, Thomas A. Kovesi
Pediatr Pulmonol. Author manuscript; available in PMC 2023 Jul 10.
Published in final edited form as: Pediatr Pulmonol. 2023 Jul; 58(7): 1942–1949. Published online 2023 Apr 23. doi: 10.1002/ppul.26414
PMCID:
PMC10330405
AbstractArticlePDF–847K
4.
Primary Ciliary Dyskinesia in a Portuguese Bronchiectasis Outpatient Clinic
Eduarda Milheiro Tinoco, Ana Rita Gigante, Edite Ferreira, Inês Sanches, Rute Pereira, Rosália Sá, Regina Monteiro, Mário Sousa, Ivone Pascoal
Genes (Basel) 2023 Mar; 14(3): 541. Published online 2023 Feb 21. doi: 10.3390/genes14030541
PMCID:
PMC10048503
AbstractArticlePDF–1.1M
5.
Challenges in Diagnosing Primary Ciliary Dyskinesia in a Brazilian Tertiary Hospital
Mariana Dalbo Contrera Toro, José Dirceu Ribeiro, Fernando Augusto Lima Marson, Érica Ortiz, Adyléia Aparecida Dalbo Contrera Toro, Carmen Silvia Bertuzzo, Marcus Herbert Jones, Eulália Sakano
Genes (Basel) 2022 Jul; 13(7): 1252. Published online 2022 Jul 15. doi: 10.3390/genes13071252
PMCID:
PMC9324289
AbstractArticlePDF–993K
6.
Autosomal dominant variants in FOXJ1 causing primary ciliary dyskinesia in two patients with obstructive hydrocephalus
Adam J. Shapiro, Kimberley Kaspy, M. Leigh Ann Daniels, Jaclyn R. Stonebraker, Van‐Hung Nguyen, Lyne Joyal, Michael R. Knowles, Maimoona A. Zariwala
Mol Genet Genomic Med. 2021 Jul; 9(7): e1726. Published online 2021 Jun 15. doi: 10.1002/mgg3.1726
PMCID:
PMC8372090
AbstractArticlePDF–730K
7.
Novel compound heterozygous mutations of DNAH5 identified in a pediatric patient with Kartagener syndrome: case report and literature review
Lina Wang, Xin Zhao, Hang Liang, Li Zhang, Chunyan Li, Deli Li, Xiangfeng Meng, Fanzheng Meng, Mao Gao
BMC Pulm Med. 2021; 21: 263. Published online 2021 Aug 14. doi: 10.1186/s12890-021-01586-4
PMCID:
PMC8364053
AbstractArticlePDF–1.5M
8.
Mutations in TP73 cause impaired mucociliary clearance and lissencephaly
Julia Wallmeier, Diana Bracht, Hessa S. Alsaif, Gerard W. Dougherty, Heike Olbrich, Sandra Cindric, Mark Dzietko, Christoph Heyer, Norbert Teig, Charlotte Thiels, Eissa Faqeih, Aqeela Al-Hashim, Sameena Khan, Ibrahim Mogarri, Mohammed Almannai, Wadha Al Otaibi, Fowzan S. Alkuraya, Cordula Koerner-Rettberg, Heymut Omran
Am J Hum Genet. 2021 Jul 1; 108(7): 1318–1329. Published online 2021 Jun 1. doi: 10.1016/j.ajhg.2021.05.002
PMCID:
PMC8322810
AbstractArticlePDF–2.6M
9.
Clinical and Genetic Spectrum of Children With Primary Ciliary Dyskinesia in China
Yuhong Guan, Haiming Yang, Xingfeng Yao, Hui Xu, Hui Liu, Xiaolei Tang, Chanjuan Hao, Xiang Zhang, Shunying Zhao, Wentong Ge, Xin Ni
Chest. 2021 May; 159(5): 1768–1781. Published online 2021 Feb 10. doi: 10.1016/j.chest.2021.02.006
PMCID:
PMC8129725
AbstractArticlePDF–1.6M
10.
Semi-Lethal Primary Ciliary Dyskinesia in Rats Lacking the Nme7 Gene
Lucie Šedová, Ivana Buková, Pavla Bažantová, Silvia Petrezsélyová, Jan Prochazka, Elena Školníková, Dagmar Zudová, Josef Včelák, Pavol Makovický, Běla Bendlová, Ondřej Šeda, Radislav Sedlacek
Int J Mol Sci. 2021 Apr; 22(8): 3810. Published online 2021 Apr 7. doi: 10.3390/ijms22083810
PMCID:
PMC8067621
AbstractArticlePDF–3.3M
11.
Transcript analysis for variant classification resolution in a child with primary ciliary dyskinesia
Alexander Ing, Alissa Wlodaver, Dawn Kirschmann, Erica Toledo, Christopher McCabe, Sabah Kadri, Mary Kate McIntyre, Joanne Salazar, Kristina Firestein, Joel Charrow, Victoria Sanders, Theresa Laguna, Kai Lee Yap
Cold Spring Harb Mol Case Stud. 2021 Feb; 7(1): a005363. doi: 10.1101/mcs.a005363
PMCID:
PMC7903884
AbstractArticlePDF–3.2M
12.
Variants in RABL2A causing male infertility and ciliopathy
Xinbao Ding, Robert Fragoza, Priti Singh, Shu Zhang, Haiyuan Yu, John C Schimenti
Hum Mol Genet. 2020 Oct 15; 29(20): 3402–3411. Published online 2020 Oct 19. doi: 10.1093/hmg/ddaa230
PMCID:
PMC7749704
AbstractArticlePDF–1.3M
13.
Recognizing genetic disease: A key aspect of pediatric pulmonary care
Lael M. Yonker, Megan H. Hawley, Peter P. Moschovis, Mengdi Lu, T. Bernard Kinane
Pediatr Pulmonol. Author manuscript; available in PMC 2020 Jul 27.
Published in final edited form as: Pediatr Pulmonol. 2020 Jul; 55(7): 1794–1809. doi: 10.1002/ppul.24706
PMCID:
PMC7384240
AbstractArticlePDF–984K
14.
Rare variants in dynein heavy chain genes in two individuals with situs inversus and developmental dyslexia: a case report
Andrea Bieder, Elisabet Einarsdottir, Hans Matsson, Harriet E. Nilsson, Jesper Eisfeldt, Anca Dragomir, Martin Paucar, Tobias Granberg, Tie-Qiang Li, Anna Lindstrand, Juha Kere, Isabel Tapia-Páez
BMC Med Genet. 2020; 21: 87. Published online 2020 May 1. doi: 10.1186/s12881-020-01020-2
PMCID:
PMC7193346
AbstractArticlePDF–3.6M
15.
Patients with severe asthenoteratospermia carrying SPAG6 or RSPH3 mutations have a positive pregnancy outcome following intracytoplasmic sperm injection
Huan Wu, Jiajia Wang, Huiru Cheng, Yang Gao, Wangjie Liu, Zhiguo Zhang, Huanhuan Jiang, Weiyu Li, Fuxi Zhu, Mingrong Lv, Chunyu Liu, Qing Tan, Xiaofeng Zhang, Chao Wang, Xiaoqing Ni, Yujie Chen, Bing Song, Ping Zhou, Zhaolian Wei, Feng Zhang, Xiaojin He, Yunxia Cao
J Assist Reprod Genet. 2020 Apr; 37(4): 829–840. Published online 2020 Mar 2. doi: 10.1007/s10815-020-01721-w
PMCID:
PMC7183039
AbstractArticlePDF–1.1M
16.
Identification of Genetic Variants in CFAP221 as a Cause of Primary Ciliary Dyskinesia
Ximena M. Bustamante-Marin, Adam Shapiro, Patrick R. Sears, Wu-Lin Charng, Donald F. Conrad, Margaret W. Leigh, Michael R. Knowles, Lawrence E. Ostrowski, Maimoona A. Zariwala
J Hum Genet. Author manuscript; available in PMC 2020 Apr 21.
Published in final edited form as: J Hum Genet. 2020 Jan; 65(2): 175–180. Published online 2019 Oct 21. doi: 10.1038/s10038-019-0686-1
PMCID:
PMC6920546
AbstractArticlePDF–843K
17.
Prevalence of Chronic Rhinosinusitis in Bronchiectasis Patients Suspected of Ciliary Dyskinesia
Justin P. McCormick, Christopher G. Weeks, Nicholas J. Rivers, Jacob D. Owen, David R. Kelly, Steven M. Rowe, George M. Solomon, Bradford A. Woodworth, Do-Yeon Cho
Int Forum Allergy Rhinol. Author manuscript; available in PMC 2020 Dec 1.
Published in final edited form as: Int Forum Allergy Rhinol. 2019 Dec; 9(12): 1430–1435. Published online 2019 Aug 20. doi: 10.1002/alr.22414
PMCID:
PMC6901752
AbstractArticlePDF–563K
18.
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
AbstractArticlePDF–762K
19.
Recurring large deletion in DRC1 (CCDC164) identified as causing primary ciliary dyskinesia in two Asian patients
Kozo Morimoto, Minako Hijikata, Maimoona A. Zariwala, Keith Nykamp, Atsushi Inaba, Tz‐Chun Guo, Hiroyuki Yamada, Rebecca Truty, Yuka Sasaki, Ken Ohta, Shoji Kudoh, Margaret W. Leigh, Michael R. Knowles, Naoto Keicho
Mol Genet Genomic Med. 2019 Aug; 7(8): e838. Published online 2019 Jul 4. doi: 10.1002/mgg3.838
PMCID:
PMC6687623
AbstractArticlePDF–725K
20.
Genetic architecture of laterality defects revealed by whole exome sequencing
Alexander H. Li, Neil A. Hanchard, Mahshid Azamian, Lisa C. A. D’Alessandro, Zeynep Coban-Akdemir, Keila N. Lopez, Nancy J. Hall, Heather Dickerson, Annarita Nicosia, Susan Fernbach, Philip M. Boone, Tomaz Gambin, Ender Karaca, Shen Gu, Bo Yuan, Shalini N. Jhangiani, HarshaVardhan Doddapaneni, Jianhong Hu, Huyen Dinh, Joy Jayaseelan, Donna Muzny, Seema Lalani, Jeffrey Towbin, Daniel Penny, Charles Fraser, James Martin, James R. Lupski, Richard A. Gibbs, Eric Boerwinkle, Stephanie M. Ware, John W. Belmont
Eur J Hum Genet. 2019 Apr; 27(4): 563–573. Published online 2019 Jan 8. doi: 10.1038/s41431-018-0307-z
PMCID:
PMC6460585
AbstractArticlePDF–952K

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