PMC Articles for MedGen (Select 1778121) - PMC

Select item 110001211.

Incidence and de novo mutation rate of Marfan syndrome and risk of ectopia lentis

Ricky Z. Cui, David O. Hodge, Brian G. Mohney

J AAPOS. Author manuscript; available in PMC 2024 Oct 1.

Published in final edited form as: J AAPOS. 2023 Oct; 27(5): 273.e1–273.e4. Published online 2023 Sep 15. doi: 10.1016/j.jaapos.2023.07.006

PMCID:: PMC11000121

Abstract Article PDF–337K

Select item 105389922.

Sex-based differences in metabolic protection by the ANP genetic variant rs5068 in the general population

Tomoko Ichiki, Valentina Cannone, Christopher G. Scott, Seethalakshmi R. Iyer, S. Jeson Sangaralingham, Kent R. Bailey, Jens P. Goetze, Yoshihisa Tsuji, Richard J. Rodeheffer, John C. Burnett, Jr

Am J Physiol Heart Circ Physiol. 2023 Sep 1; 325(3): H545–H552. Published online 2023 Jul 6. doi: 10.1152/ajpheart.00321.2023

PMCID:: PMC10538992

Abstract Article

Select item 79819123.

MBTPS2, a membrane bound protease, underlying several distinct skin and bone disorders

Natarin Caengprasath, Thanakorn Theerapanon, Thantrira Porntaveetus, Vorasuk Shotelersuk

J Transl Med. 2021; 19: 114. Published online 2021 Mar 20. doi: 10.1186/s12967-021-02779-5

PMCID:: PMC7981912

Abstract Article PDF–1.9M

Select item 75503974.

A whole-genome sequencing–based novel preimplantation genetic testing method for de novo mutations combined with chromosomal balanced translocations

Ping Yuan, Jun Xia, Songbang Ou, Ping Liu, Tao Du, Lingyan Zheng, Xuyang Yin, Lin Xie, Sijia Zhang, Huijuan Yan, Ya Gao, Qingxue Zhang, Hui Jiang, Fang Chen, Wenjun Wang

J Assist Reprod Genet. 2020 Oct; 37(10): 2525–2533. Published online 2020 Aug 11. doi: 10.1007/s10815-020-01921-4

PMCID:: PMC7550397

Abstract Article PDF–1.4M

Select item 69907625.

Targeted Inhibition of the Epidermal Growth Factor Receptor and Mammalian Target of Rapamycin Signaling Pathways in Olmsted Syndrome

April Zhang, Sabine Duchatelet, Nikita Lakdawala, Richard L. Tower, Carrie Diamond, Kalyani Marathe, India Hill, Gabriele Richard, Yaser Diab, Anna Yasmine Kirkorian, Flora Watanabe, Dawn H. Siegel, Alain Hovnanian

JAMA Dermatol. 2020 Feb; 156(2): 196–200. Published online 2020 Jan 2. doi: 10.1001/jamadermatol.2019.4141

PMCID:: PMC6990762

Abstract Article

Select item 51018926.

Nagashima-type palmoplantar keratosis in a Chinese Han population

Jia Zhang, Guolong Zhang, Cheng Ni, Ruhong Cheng, Jianying Liang, Ming Li, Zhirong Yao

Mol Med Rep. 2016 Nov; 14(5): 4049–4054. Published online 2016 Sep 21. doi: 10.3892/mmr.2016.5757

PMCID:: PMC5101892

Abstract Article PDF–958K

Select item 45260267.

Lack of familial aggregation in chronic constipation excluding irritable bowel syndrome: a population-based study

Joseph Y. Chang, G. Richard Locke, III, Cathy D. Schleck, Alan R. Zinsmeister, Nicholas J. Talley

Dig Dis Sci. Author manuscript; available in PMC 2016 May 1.

Published in final edited form as: Dig Dis Sci. 2015 May; 60(5): 1358–1365. Published online 2014 Dec 23. doi: 10.1007/s10620-014-3475-x

PMCID:: PMC4526026

Abstract Article PDF–385K

Select item 37435448.

Incidence of Pediatric Horner Syndrome and the Risk of Neuroblastoma: A Population-Based Study

Stephen J. Smith, Nancy Diehl, Jacqueline A. Leavitt, Brian G. Mohney

Arch Ophthalmol. Author manuscript; available in PMC 2013 Aug 14.

Published in final edited form as: Arch Ophthalmol. 2010 Mar; 128(3): 324–329. doi: 10.1001/archophthalmol.2010.6

PMCID:: PMC3743544

Abstract Article PDF–236K

Select item 31885549.

A GENETIC VARIANT OF THE ATRIAL NATRIURETIC PEPTIDE GENE IS ASSOCIATED WITH CARDIOMETABOLIC PROTECTION IN THE GENERAL COMMUNITY

Valentina Cannone, Guido Boerrigter, Alessandro Cataliotti, Lisa C. Costello-Boerrigter, Timothy M. Olson, Paul M. McKie, Denise M. Heublein, Brian D. Lahr, Kent R. Bailey, Maurizio Averna, Margaret M. Redfield, Richard J. Rodeheffer, John C. Burnett, Jr

J Am Coll Cardiol. Author manuscript; available in PMC 2012 Aug 2.

Published in final edited form as: J Am Coll Cardiol. 2011 Aug 2; 58(6): 629–636. doi: 10.1016/j.jacc.2011.05.011

PMCID:: PMC3188554

Abstract Article PDF–393K

Select item 177390710.

Familial aggregation of irritable bowel syndrome: a prospective study

J S Kalantar, G R Locke, A R Zinsmeister, C M Beighley, N J Talley

Gut. 2003 Dec; 52(12): 1703–1707. doi: 10.1136/gut.52.12.1703

PMCID:: PMC1773907

Abstract Article PDF–226K

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