PMC Links for Nucleotide (Select 393290880) - PMC

Select item 55244331.

Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families

Asmat Ullah, Muhammad Umair, Maryam Yousaf, Sher Alam Khan, Muhammad Nazim-ud-din, Khadim Shah, Farooq Ahmad, Zahid Azeem, Ghazanfar Ali, Bader Alhaddad, Afzal Rafique, Abid Jan, Tobias B. Haack, Tim M. Strom, Thomas Meitinger, Tahseen Ghous, Wasim Ahmad

Mol Vis. 2017; 23: 482–494. Published online 2017 Jul 21.

PMCID:: PMC5524433

Abstract Article PDF–4.1M

Select item 59911212.

Screening for mutation hotspots in Bardet–Biedl syndrome patients from India

Sathya Priya Chandrasekar, Sheela Namboothiri, Parveen Sen, Sripriya Sarangapani

Indian J Med Res. 2018 Feb; 147(2): 177–182. doi: 10.4103/ijmr.IJMR_1822_15

PMCID:: PMC5991121

Abstract Article PDF–619K

Select item 58695933.

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

Abstract Article PDF–2.3M

Select item 58003484.

Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases

Jamie M Ellingford, Bradley Horn, Christopher Campbell, Gavin Arno, Stephanie Barton, Catriona Tate, Sanjeev Bhaskar, Panagiotis I Sergouniotis, Rachel L Taylor, Keren J Carss, Lucy F L Raymond, Michel Michaelides, Simon C Ramsden, Andrew R Webster, Graeme C M Black

J Med Genet. 2018 Feb; 55(2): 114–121. Published online 2017 Oct 26. doi: 10.1136/jmedgenet-2017-104791

PMCID:: PMC5800348

Abstract Article PDF–360K

Select item 56586655.

Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability

S Riazuddin, M Hussain, A Razzaq, Z Iqbal, M Shahzad, D L Polla, Y Song, E van Beusekom, A A Khan, L Tomas-Roca, M Rashid, M Y Zahoor, W M Wissink-Lindhout, M A R Basra, M Ansar, Z Agha, K van Heeswijk, F Rasheed, M Van de Vorst, J A Veltman, C Gilissen, J Akram, T Kleefstra, M Z Assir, UK10K, D Grozeva, K Carss, F L Raymond, T D O'Connor, S A Riazuddin, S N Khan, Z M Ahmed, A P M de Brouwer, H van Bokhoven, S Riazuddin

Mol Psychiatry. 2017; 22(11): 1604–1614. Published online 2016 Jul 26. doi: 10.1038/mp.2016.109

Correction in:: Mol Psychiatry. 2020; 25(11): 3101–3102.

PMCID:: PMC5658665

Abstract Article PDF–2.2M

Select item 49740856.

Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome

Anna Lindstrand, Stephan Frangakis, Claudia M.B. Carvalho, Ellen B. Richardson, Kelsey A. McFadden, Jason R. Willer, Davut Pehlivan, Pengfei Liu, Igor L. Pediaditakis, Aniko Sabo, Richard Alan Lewis, Eyal Banin, James R. Lupski, Erica E. Davis, Nicholas Katsanis

Am J Hum Genet. 2016 Aug 4; 99(2): 318–336. Published online 2016 Aug 2. doi: 10.1016/j.ajhg.2015.04.023

PMCID:: PMC4974085

Abstract Article PDF–2.3M

Select item 43586527.

VaRank: a simple and powerful tool for ranking genetic variants

Véronique Geoffroy, Cécile Pizot, Claire Redin, Amélie Piton, Nasim Vasli, Corinne Stoetzel, André Blavier, Jocelyn Laporte, Jean Muller

PeerJ. 2015; 3: e796. Published online 2015 Mar 3. doi: 10.7717/peerj.796

PMCID:: PMC4358652

Abstract Article PDF–741K

Select item 40472858.

IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet–Biedl syndrome

Mohammed A. Aldahmesh, Yuanyuan Li, Amal Alhashem, Shams Anazi, Hisham Alkuraya, Mais Hashem, Ali A. Awaji, Sameera Sogaty, Abdullah Alkharashi, Saeed Alzahrani, Selwa A. Al Hazzaa, Yong Xiong, Shanshan Kong, Zhaoxia Sun, Fowzan S. Alkuraya

Hum Mol Genet. 2014 Jun 15; 23(12): 3307–3315. Published online 2014 Jan 31. doi: 10.1093/hmg/ddu044

PMCID:: PMC4047285

Abstract Article PDF–1.0M

Select item 39514089.

Nonsense-Mediated mRNA Decay Immunity Can Help Identify Human Polycistronic Transcripts

Guy Shahaf, Dorit Shweiki

PLoS One. 2014; 9(3): e91535. Published online 2014 Mar 12. doi: 10.1371/journal.pone.0091535

PMCID:: PMC3951408

Abstract Article PDF–340K

Select item 364661910.

Mutation analysis in Bardet–Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals

Sabine Janssen, Gokul Ramaswami, Erica E. Davis, Toby Hurd, Rannar Airik, Jennifer M. Kasanuki, Lauren Van Der Kraak, Susan J. Allen, Philip L. Beales, Nicholas Katsanis, Edgar A. Otto, Friedhelm Hildebrandt

Hum Genet. Author manuscript; available in PMC 2013 May 7.

Published in final edited form as: Hum Genet. 2011 Jan; 129(1): 79–90. Published online 2010 Oct 30. doi: 10.1007/s00439-010-0902-8

PMCID:: PMC3646619

Abstract Article PDF–940K

Select item 283140711.

Identification and functional clustering of global gene expression differences between human age-related cataract and clear lenses

John R. Hawse, James F. Hejtmancik, Quingling Huang, Nancy L. Sheets, Douglas A. Hosack, Richard A. Lempicki, Joseph Horwitz, Marc Kantorow

Mol Vis. Author manuscript; available in PMC 2010 Mar 3.

Published in final edited form as: Mol Vis. 2003 Oct 7; 9: 515–537. Published online 2003 Oct 7.

PMCID:: PMC2831407

Abstract Article PDF–1.2M

Select item 267975912.

Functional annotation of the human retinal pigment epithelium transcriptome

Judith C Booij, Simone van Soest, Sigrid MA Swagemakers, Anke HW Essing, Annemieke JMH Verkerk, Peter J van der Spek, Theo GMF Gorgels, Arthur AB Bergen

BMC Genomics. 2009; 10: 164. Published online 2009 Apr 20. doi: 10.1186/1471-2164-10-164

PMCID:: PMC2679759

Abstract Article PDF–1.3M

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from Nucleotide

Items: 12

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity