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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2008 1
2010 1
2011 1
2013 2
2014 1
2015 3
2017 1
2019 3
2020 3
2021 4
2022 2
2023 1
2024 0

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21 results

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Page 1
Molecular and clinical descriptions of patients with GABAA receptor gene variants (GABRA1, GABRB2, GABRB3, GABRG2): A cohort study, review of literature, and genotype-phenotype correlation.
Maillard PY, Baer S, Schaefer É, Desnous B, Villeneuve N, Lépine A, Fabre A, Lacoste C, El Chehadeh S, Piton A, Porter LF, Perriard C, Wardé MA, Spitz MA, Laugel V, Lesca G, Putoux A, Ville D, Mignot C, Héron D, Nabbout R, Barcia G, Rio M, Roubertie A, Meyer P, Paquis-Flucklinger V, Patat O, Lefranc J, Gerard M; Epigen Consortium; de Bellescize J, Villard L, De Saint Martin A, Milh M. Maillard PY, et al. Epilepsia. 2022 Oct;63(10):2519-2533. doi: 10.1111/epi.17336. Epub 2022 Aug 13. Epilepsia. 2022. PMID: 35718920 Free PMC article. Review.
WGS Revealed Novel BBS5 Pathogenic Variants, Missed by WES, Causing Ciliary Structure and Function Defects.
Karam A, Delvallée C, Estrada-Cuzcano A, Geoffroy V, Lamouche JB, Leuvrey AS, Nourisson E, Tarabeux J, Stoetzel C, Scheidecker S, Porter LF, Génin E, Redon R, Sandron F, Boland A, Deleuze JF, Le May N, Dollfus H, Muller J. Karam A, et al. Int J Mol Sci. 2023 May 13;24(10):8729. doi: 10.3390/ijms24108729. Int J Mol Sci. 2023. PMID: 37240074 Free PMC article.
Brittle cornea syndrome: recognition, molecular diagnosis and management.
Burkitt Wright EM, Porter LF, Spencer HL, Clayton-Smith J, Au L, Munier FL, Smithson S, Suri M, Rohrbach M, Manson FD, Black GC. Burkitt Wright EM, et al. Among authors: porter lf. Orphanet J Rare Dis. 2013 May 4;8:68. doi: 10.1186/1750-1172-8-68. Orphanet J Rare Dis. 2013. PMID: 23642083 Free PMC article. Review.
Brittle cornea syndrome: Disease-causing mutations in ZNF469 and two novel variants identified in a patient followed for 26 years.
Skalicka P, Porter LF, Brejchova K, Malinka F, Dudakova L, Liskova P. Skalicka P, et al. Among authors: porter lf. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2020 Jun;164(2):183-188. doi: 10.5507/bp.2019.017. Epub 2019 Apr 17. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2020. PMID: 31025659 Free article. Review.
PPIP5K2 and PCSK1 are Candidate Genetic Contributors to Familial Keratoconus.
Khaled ML, Bykhovskaya Y, Gu C, Liu A, Drewry MD, Chen Z, Mysona BA, Parker E, McNabb RP, Yu H, Lu X, Wang J, Li X, Al-Muammar A, Rotter JI, Porter LF, Estes A, Watsky MA, Smith SB, Xu H, Abu-Amero KK, Kuo A, Shears SB, Rabinowitz YS, Liu Y. Khaled ML, et al. Among authors: porter lf. Sci Rep. 2019 Dec 18;9(1):19406. doi: 10.1038/s41598-019-55866-5. Sci Rep. 2019. PMID: 31852976 Free PMC article.
Quantitative description of SARS-CoV-2 RT-PCR, a cohort of 76 COVID-19 older hospitalized adults.
Meyer M, Meyer A, Calabrese L, Constancias F, Porter LF, Muller M, Leitner M, Leitner A, Michaud A, Boussuge A, Kaltenbach G, Schmitt E, Karcher P, Sauleau E, Chayer S, Blanc F, Fafi-Kremer S, Velay A, Vogel T. Meyer M, et al. Among authors: porter lf. J Am Geriatr Soc. 2021 May;69(5):1170-1174. doi: 10.1111/jgs.17102. Epub 2021 Apr 1. J Am Geriatr Soc. 2021. PMID: 33792892 Free PMC article. No abstract available.
Bruch's membrane abnormalities in PRDM5-related brittle cornea syndrome.
Porter LF, Gallego-Pinazo R, Keeling CL, Kamieniorz M, Zoppi N, Colombi M, Giunta C, Bonshek R, Manson FD, Black GC. Porter LF, et al. Orphanet J Rare Dis. 2015 Nov 11;10:145. doi: 10.1186/s13023-015-0360-4. Orphanet J Rare Dis. 2015. PMID: 26560304 Free PMC article.
21 results