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Items: 1 to 20 of 48

1.
Cell cycle regulation of the activity and subcellular localization of Plk1, a human protein kinase implicated in mitotic spindle function
J Cell Biol. 1995 Jun 2; 129(6): 1617–1628. doi: 10.1083/jcb.129.6.1617
PMCID:
PMC2291169
SummaryPDF–2.1M
2.
A case report of two siblings with Alstrom syndrome without hearing loss associated with two new ALMS1 variants
Maria F. Shurygina, Maria A. Parker, Catie L. Schlechter, Rui Chen, Yumei Li, Richard G. Weleber, Paul Yang, Mark E. Pennesi
BMC Ophthalmol. 2019; 19: 246. Published online 2019 Dec 7. doi: 10.1186/s12886-019-1259-y
PMCID:
PMC6898930
AbstractArticlePDF–8.5M
3.
Application of Whole Exome and Targeted Panel Sequencing in the Clinical Molecular Diagnosis of 319 Chinese Families with Inherited Retinal Dystrophy and Comparison Study
Likun Wang, Jinlu Zhang, Ningning Chen, Lei Wang, Fengsheng Zhang, Zhizhong Ma, Genlin Li, Liping Yang
Genes (Basel) 2018 Jul; 9(7): 360. Published online 2018 Jul 19. doi: 10.3390/genes9070360
PMCID:
PMC6071067
AbstractArticlePDF–255K
4.
Comprehensive genomic diagnosis of non-syndromic and syndromic hereditary hearing loss in Spanish patients
Rubén Cabanillas, Marta Diñeiro, Guadalupe A. Cifuentes, David Castillo, Patricia C. Pruneda, Rebeca Álvarez, Noelia Sánchez-Durán, Raquel Capín, Ana Plasencia, Mónica Viejo-Díaz, Noelia García-González, Inés Hernando, José L. Llorente, Alfredo Repáraz-Andrade, Cristina Torreira-Banzas, Jordi Rosell, Nancy Govea, Justo Ramón Gómez-Martínez, Faustino Núñez-Batalla, José A. Garrote, Ángel Mazón-Gutiérrez, María Costales, María Isidoro-García, Belén García-Berrocal, Gonzalo R. Ordóñez, Juan Cadiñanos
BMC Med Genomics. 2018; 11: 58. Published online 2018 Jul 9. doi: 10.1186/s12920-018-0375-5
PMCID:
PMC6038346
AbstractArticlePDF–964K
5.
Whole-Exome Sequencing Identifies One De Novo Variant in the FGD6 Gene in a Thai Family with Autism Spectrum Disorder
Chuphong Thongnak, Areerat Hnoonual, Duangkamol Tangviriyapaiboon, Suchaya Silvilairat, Apichaya Puangpetch, Ekawat Pasomsub, Wasun Chantratita, Pornprot Limprasert, Chonlaphat Sukasem
Int J Genomics. 2018; 2018: 8231547. Published online 2018 May 17. doi: 10.1155/2018/8231547
PMCID:
PMC5985066
AbstractArticlePDF–1.0M
6.
Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies
Iker Sanchez-Navarro, Luciana R. J. da Silva, Fiona Blanco-Kelly, Olga Zurita, Noelia Sanchez-Bolivar, Cristina Villaverde, Maria Isabel Lopez-Molina, Blanca Garcia-Sandoval, Saoud Tahsin-Swafiri, Pablo Minguez, Rosa Riveiro-Alvarez, Isabel Lorda, Rocío Sanchez-Alcudia, Raquel Perez-Carro, Diana Valverde, Yichuan Liu, Lifeng Tian, Hakon Hakonarson, Almudena Avila-Fernandez, Marta Corton, Carmen Ayuso
Sci Rep. 2018; 8: 5285. Published online 2018 Mar 27. doi: 10.1038/s41598-018-23520-1
PMCID:
PMC5869593
AbstractArticlePDF–2.3M
7.
Novel Genetic Variants of Sporadic Atrial Septal Defect (ASD) in a Chinese Population Identified by Whole-Exome Sequencing (WES)
Yong Liu, Yu Cao, Yaxiong Li, Dongyun Lei, Lin Li, Zong Liu Hou, Shen Han, Mingyao Meng, Jianlin Shi, Yayong Zhang, Yi Wang, Zhaoyi Niu, Yanhua Xie, Benshan Xiao, Yuanfei Wang, Xiao Li, Lirong Yang, Wenju Wang, Lihong Jiang
Med Sci Monit. 2018; 24: 1340–1358. Published online 2018 Mar 5. doi: 10.12659/MSM.908923
PMCID:
PMC5849354
AbstractArticlePDF–4.2M
8.
Triple Vectors Expand AAV Transfer Capacity in the Retina
Andrea Maddalena, Patrizia Tornabene, Paola Tiberi, Renato Minopoli, Anna Manfredi, Margherita Mutarelli, Settimio Rossi, Francesca Simonelli, Jurgen K. Naggert, Davide Cacchiarelli, Alberto Auricchio
Mol Ther. 2018 Feb 7; 26(2): 524–541. Published online 2017 Dec 5. doi: 10.1016/j.ymthe.2017.11.019
PMCID:
PMC5835116
AbstractArticlePDF–2.8M
9.
Molecular Screening of 43 Brazilian Families Diagnosed with Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy
Fernanda B. O. Porto, Evan M. Jones, Justin Branch, Zachry T. Soens, Igor Mendes Maia, Isadora F. G. Sena, Shirley A. M. Sampaio, Renata T. Simões, Rui Chen
Genes (Basel) 2017 Dec; 8(12): 355. Published online 2017 Nov 29. doi: 10.3390/genes8120355
PMCID:
PMC5748673
AbstractArticlePDF–5.5M
10.
Clinical genetic testing using a custom-designed steroid-resistant nephrotic syndrome gene panel: analysis and recommendations
Ethan S Sen, Philip Dean, Laura Yarram-Smith, Agnieszka Bierzynska, Geoff Woodward, Chris Buxton, Gemma Dennis, Gavin I Welsh, Maggie Williams, Moin A Saleem
J Med Genet. 2017 Dec; 54(12): 795–804. Published online 2017 Aug 5. doi: 10.1136/jmedgenet-2017-104811
PMCID:
PMC5740557
AbstractArticlePDF–810K
11.
Diagnostic Yield of Whole Exome Sequencing in Pediatric Dilated Cardiomyopathy
Pamela A. Long, Jared M. Evans, Timothy M. Olson
J Cardiovasc Dev Dis. 2017 Sep; 4(3): 11. Published online 2017 Aug 8. doi: 10.3390/jcdd4030011
PMCID:
PMC5715713
AbstractArticlePDF–2.2M
12.
Functional analysis by minigene assay of putative splicing variants found in Bardet–Biedl syndrome patients
María Álvarez‐Satta, Sheila Castro‐Sánchez, Guillermo Pousada, Diana Valverde
J Cell Mol Med. 2017 Oct; 21(10): 2268–2275. Published online 2017 May 13. doi: 10.1111/jcmm.13147
PMCID:
PMC5618670
AbstractArticlePDF–167K
13.
Whole exome sequencing as a diagnostic tool for patients with ciliopathy-like phenotypes
Sheila Castro-Sánchez, María Álvarez-Satta, Mohamed A. Tohamy, Sergi Beltran, Sophia Derdak, Diana Valverde
PLoS One. 2017; 12(8): e0183081. Published online 2017 Aug 11. doi: 10.1371/journal.pone.0183081
PMCID:
PMC5553726
AbstractArticlePDF–1.6M
14.
Monogenic diabetes syndromes: Locus‐specific databases for Alström, Wolfram, and Thiamine‐responsive megaloblastic anemia
Dewi Astuti, Ataf Sabir, Piers Fulton, Malgorzata Zatyka, Denise Williams, Carol Hardy, Gabriella Milan, Francesca Favaretto, Patrick Yu‐Wai‐Man, Julia Rohayem, Miguel López de Heredia, Tamara Hershey, Lisbeth Tranebjaerg, Jian‐Hua Chen, Annabel Chaussenot, Virginia Nunes, Bess Marshall, Susan McAfferty, Vallo Tillmann, Pietro Maffei, Veronique Paquis‐Flucklinger, Tarekign Geberhiwot, Wojciech Mlynarski, Kay Parkinson, Virginie Picard, Gema Esteban Bueno, Renuka Dias, Amy Arnold, Caitlin Richens, Richard Paisey, Fumihiko Urano, Robert Semple, Richard Sinnott, Timothy G. Barrett
Hum Mutat. 2017 Jul; 38(7): 764–777. Published online 2017 Jun 1. doi: 10.1002/humu.23233
PMCID:
PMC5535005
AbstractArticlePDF–503K
15.
Whole genome sequencing identifies a novel ALMS1 gene mutation in two Chinese siblings with Alström syndrome
Lin Yang, Zixiu Li, Mei Mei, Xiaomei Fan, Guodong Zhan, Huijun Wang, Guoying Huang, Mingbang Wang, Weidong Tian, Wenhao Zhou
BMC Med Genet. 2017; 18: 75. Published online 2017 Jul 19. doi: 10.1186/s12881-017-0418-3
PMCID:
PMC5518093
AbstractArticlePDF–705K
16.
Refining genotype–phenotype correlation in Alström syndrome through study of primary human fibroblasts
Jian‐Hua Chen, Tarekegn Geberhiwot, Timothy G. Barrett, Richard Paisey, Robert K. Semple
Mol Genet Genomic Med. 2017 Jul; 5(4): 390–404. Published online 2017 May 15. doi: 10.1002/mgg3.296
PMCID:
PMC5511801
AbstractArticlePDF–2.6M
17.
The phenotypic and molecular genetic spectrum of Alström Syndrome in 44 Turkish kindreds and a literature review of Alström Syndrome in Turkey
Ayşegül Ozantürk, Jan D Marshall, Gayle B Collin, Selma Düzenli, Robert P Marshall, Şükrü Candan, Tülay Tos, İhsan Esen, Mustafa Taşkesen, Atilla Çayır, Şükrü Öztürk, İhsan Üstün, Esra Ataman, Emin Karaca, Taha Reşid Özdemir, İlknur Erol, Fehime Kara Eroğlu, Deniz Torun, Erhan Parıltay, Elif Yılmaz-Güleç, Ender Karaca, M. Emre Atabek, Nursel Elçioğlu, İlhan Satman, Claes Möller, Jean Müller, Jürgen K Naggert, Rıza Köksal Özgül
J Hum Genet. Author manuscript; available in PMC 2017 Jun 6.
Published in final edited form as: J Hum Genet. 2015 Jan; 60(1): 1–9. Published online 2014 Oct 9. doi: 10.1038/jhg.2014.85
Correction in:
J Hum Genet. 2015 Jan; 60(1): 51.
PMCID:
PMC5460767
AbstractArticlePDF–485K
18.
Diagnostic exome sequencing in 266 Dutch patients with visual impairment
Lonneke Haer-Wigman, Wendy AG van Zelst-Stams, Rolph Pfundt, L Ingeborgh van den Born, Caroline CW Klaver, Joke BGM Verheij, Carel B Hoyng, Martijn H Breuning, Camiel JF Boon, Anneke J Kievit, Virginie JM Verhoeven, Jan WR Pott, Suzanne CEH Sallevelt, Johanna M van Hagen, Astrid S Plomp, Hester Y Kroes, Stefan H Lelieveld, Jayne Y Hehir-Kwa, Steven Castelein, Marcel Nelen, Hans Scheffer, Dorien Lugtenberg, Frans PM Cremers, Lies Hoefsloot, Helger G Yntema
Eur J Hum Genet. 2017 May; 25(5): 591–599. Published online 2017 Feb 22. doi: 10.1038/ejhg.2017.9
PMCID:
PMC5437915
AbstractArticlePDF–1.1M
19.
Screening of Living Kidney Donors for Genetic Diseases Using a Comprehensive Genetic Testing Strategy
C. P. Thomas, M. A. Mansilla, R. Sompallae, S. O. Mason, C. J. Nishimura, M. J. Kimble, C. A. Campbell, A. E. Kwitek, B. W. Darbro, Z. A. Stewart, R. J. H. Smith
Am J Transplant. 2017 Feb; 17(2): 401–410. Published online 2016 Aug 24. doi: 10.1111/ajt.13970
PMCID:
PMC5297870
AbstractArticlePDF–172K
20.
Characterization of Alstrom Syndrome 1 (ALMS1) Transcript Variants in Hodgkin Lymphoma Cells
Katarina Braune, Ines Volkmer, Martin S. Staege
PLoS One. 2017; 12(1): e0170694. Published online 2017 Jan 30. doi: 10.1371/journal.pone.0170694
PMCID:
PMC5279758
AbstractArticlePDF–3.4M

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