PMC Links for Nucleotide (Select 1519245726) - PMC

Select item 62516121.

A homozygous mutation p.Arg2167Trp in FREM2 causes isolated cryptophthalmos

Qian Yu, Bingying Lin, Shangqian Xie, Song Gao, Wei Li, Yizhi Liu, Hongwei Wang, Danping Huang, Zhi Xie

Hum Mol Genet. 2018 Jul 1; 27(13): 2357–2366. Published online 2018 Apr 24. doi: 10.1093/hmg/ddy144

PMCID:: PMC6251612

Select item 59857202.

The role of FREM2 and FRAS1 in the development of congenital diaphragmatic hernia

Valerie K Jordan, Tyler F Beck, Andres Hernandez-Garcia, Peter N Kundert, Bum-Jun Kim, Shalini N Jhangiani, Tomasz Gambin, Molly Starkovich, Jaya Punetha, Ingrid S Paine, Jennifer E Posey, Alexander H Li, Donna Muzny, Chih-Wei Hsu, Amber J Lashua, Xin Sun, Caraciolo J Fernandes, Mary E Dickinson, Kevin P Lally, Richard A Gibbs, Eric Boerwinkle, James R Lupski, Daryl A Scott

Hum Mol Genet. 2018 Jun 15; 27(12): 2064–2075. Published online 2018 Mar 28. doi: 10.1093/hmg/ddy110

PMCID:: PMC5985720

Abstract Article PDF–810K

Select item 59836423.

Meta-Analysis and Experimental Validation Identified FREM2 and SPRY1 as New Glioblastoma Marker Candidates

Marko Vidak, Ivana Jovcevska, Neja Samec, Alja Zottel, Mirjana Liovic, Damjana Rozman, Saso Dzeroski, Peter Juvan, Radovan Komel

Int J Mol Sci. 2018 May; 19(5): 1369. Published online 2018 May 4. doi: 10.3390/ijms19051369

PMCID:: PMC5983642

Abstract Article PDF–9.3M

Select item 41479864.

Mild Recessive Mutations in Six Fraser Syndrome–Related Genes Cause Isolated Congenital Anomalies of the Kidney and Urinary Tract

Stefan Kohl, Daw-Yang Hwang, Gabriel C. Dworschak, Alina C. Hilger, Pawaree Saisawat, Asaf Vivante, Natasa Stajic, Radovan Bogdanovic, Heiko M. Reutter, Elijah O. Kehinde, Velibor Tasic, Friedhelm Hildebrandt

J Am Soc Nephrol. 2014 Sep; 25(9): 1917–1922. Published online 2014 Apr 3. doi: 10.1681/ASN.2013101103

PMCID:: PMC4147986

Abstract Article

Select item 26652885.

The DNA sequence and analysis of human chromosome 13

A. Dunham, L. H. Matthews, J. Burton, J. L. Ashurst, K. L. Howe, K. J. Ashcroft, D. M. Beare, D. C. Burford, S. E. Hunt, S. Griffiths-Jones, M. C. Jones, S. J. Keenan, K. Oliver, C. E. Scott, R. Ainscough, J. P. Almeida, K. D. Ambrose, D. T. Andrews, R. I. S. Ashwell, A. K. Babbage, C. L. Bagguley, J. Bailey, R. Bannerjee, K. F. Barlow, K. Bates, H. Beasley, C. P. Bird, S. Bray-Allen, A. J. Brown, J. Y. Brown, W. Burrill, C. Carder, N. P. Carter, J. C. Chapman, M. E. Clamp, S. Y. Clark, G. Clarke, C. M. Clee, S. C. M. Clegg, V. Cobley, J. E. Collins, N. Corby, G. J. Coville, P. Deloukas, P. Dhami, I. Dunham, M. Dunn, M. E. Earthrowl, A. G. Ellington, L. Faulkner, A. G. Frankish, J. Frankland, L. French, P. Garner, J. Garnett, J. G. R. Gilbert, C. J. Gilson, J. Ghori, D. V. Grafham, S. M. Gribble, C. Griffiths, R. E. Hall, S. Hammond, J. L. Harley, E. A. Hart, P. D. Heath, P. J. Howden, E. J. Huckle, P. J. Hunt, A. R. Hunt, C. Johnson, D. Johnson, M. Kay, A. M. Kimberley, A. King, G. K. Laird, C. J. Langford, S. Lawlor, D. A. Leongamornlert, D. M. Lloyd, C. Lloyd, J. E. Loveland, J. Lovell, S. Martin, M. Mashreghi-Mohammadi, S. J. McLaren, A. McMurray, S. Milne, M. J. F. Moore, T. Nickerson, S. A. Palmer, A. V. Pearce, A. I. Peck, S. Pelan, B. Phillimore, K. M. Porter, C. M. Rice, S. Searle, H. K. Sehra, R. Shownkeen, C. D. Skuce, M. Smith, C. A. Steward, N. Sycamore, J. Tester, D. W. Thomas, A. Tracey, A. Tromans, B. Tubby, M. Wall, J. M. Wallis, A. P. West, S. L. Whitehead, D. L. Willey, L. Wilming, P. W. Wray, M. W. Wright, L. Young, A. Coulson, R. Durbin, T. Hubbard, J. E. Sulston, S. Beck, D. R. Bentley, J. Rogers, M. T. Ross

Nature. Author manuscript; available in PMC 2009 Apr 5.

Published in final edited form as: Nature. 2004 Apr 1; 428(6982): 522–528. doi: 10.1038/nature02379

PMCID:: PMC2665288

Abstract Article PDF–1.2M

Select item 15676846.

Breakdown of the reciprocal stabilization of QBRICK/Frem1, Fras1, and Frem2 at the basement membrane provokes Fraser syndrome-like defects

Daiji Kiyozumi, Nagisa Sugimoto, Kiyotoshi Sekiguchi

Proc Natl Acad Sci U S A. 2006 Aug 8; 103(32): 11981–11986. Published online 2006 Jul 31. doi: 10.1073/pnas.0601011103

PMCID:: PMC1567684

Abstract Article PDF–2.3M

Select item 5187947.

The extracellular matrix gene Frem1 is essential for the normal adhesion of the embryonic epidermis

Ian Smyth, Xin Du, Martin S. Taylor, Monica J. Justice, Bruce Beutler, Ian J. Jackson

Proc Natl Acad Sci U S A. 2004 Sep 14; 101(37): 13560–13565. Published online 2004 Sep 2. doi: 10.1073/pnas.0402760101

PMCID:: PMC518794

Abstract Article PDF–779K

Select item 64618848.

Molecular heterogeneity and early metastatic clone selection in testicular germ cell cancer development

Lambert C. J. Dorssers, Ad J. M. Gillis, Hans Stoop, Ronald van Marion, Marleen M. Nieboer, Job van Riet, Harmen J. G. van de Werken, J. Wolter Oosterhuis, Jeroen de Ridder, Leendert H. J. Looijenga

Br J Cancer. 2019 Feb 19; 120(4): 444–452. Published online 2019 Feb 11. doi: 10.1038/s41416-019-0381-1

PMCID:: PMC6461884

Abstract Article PDF–1.5M

Select item 63486369.

Identification of sequence variants associated with severe microtia-astresia by targeted sequencing

Pu Wang, Yibei Wang, Xinmiao Fan, Yaping Liu, Yue Fan, Tao Liu, Chongjian Chen, Shuyang Zhang, Xiaowei Chen

BMC Med Genomics. 2019; 12: 28. Published online 2019 Jan 28. doi: 10.1186/s12920-019-0475-x

PMCID:: PMC6348636

Abstract Article PDF–2.6M

Select item 529787010.

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

Abstract Article PDF–172K

Select item 496060211.

Deleterious coding variants in multi-case families with non-syndromic cleft lip and/or palate phenotypes

Reuben J. Pengelly, Liliana Arias, Julio Martínez, Rosanna Upstill-Goddard, Eleanor G. Seaby, Jane Gibson, Sarah Ennis, Andrew Collins, Ignacio Briceño

Sci Rep. 2016; 6: 30457. Published online 2016 Jul 26. doi: 10.1038/srep30457

PMCID:: PMC4960602

Abstract Article PDF–471K

Select item 442954212.

Retinoic acid receptor beta and angiopoietin-like protein 1 are involved in the regulation of human androgen biosynthesis

Sameer S. Udhane, Amit V. Pandey, Gaby Hofer, Primus E. Mullis, Christa E. Flück

Sci Rep. 2015; 5: 10132. Published online 2015 May 13. doi: 10.1038/srep10132

PMCID:: PMC4429542

Abstract Article PDF–1.6M

Select item 383601213.

Identification of two novel CAKUT-causing genes by massively parallel exon resequencing of candidate genes in patients with unilateral renal agenesis

Pawaree Saisawat, Velibor Tasic, Virginia Vega-Warner, Elijah O. Kehinde, Barbara Günther, Rannar Airik, Jeffrey W. Innis, Bethan E. Hoskins, Julia Hoefele, Edgar A. Otto, Friedhelm Hildebrandt

Kidney Int. Author manuscript; available in PMC 2013 Nov 21.

Published in final edited form as: Kidney Int. 2012 Jan; 81(2): 10.1038/ki.2011.315. Published online 2011 Sep 7. doi: 10.1038/ki.2011.315

PMCID:: PMC3836012

Abstract Article PDF–1.0M

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