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

Year Number of Results
2011 5
2012 1
2013 2
2014 2
2015 2
2016 3
2017 6
2018 4
2019 6
2020 6
2021 8
2022 9
2023 10
2024 5

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58 results

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Page 1
SEC31A may be associated with pituitary hormone deficiency and gonadal dysgenesis.
Tobias ES, Lucas-Herald AK, Sagar D, Montezano AC, Rios FJ, De Lucca Camargo L, Hamilton G, Gazdagh G, Diver LA, Williams N, Herzyk P, Touyz RM, Greenfield A, McGowan R, Ahmed SF. Tobias ES, et al. Among authors: mcgowan r. Endocrine. 2024 Feb 24. doi: 10.1007/s12020-024-03701-x. Online ahead of print. Endocrine. 2024. PMID: 38400880
Gonadal Function in Boys with Bilateral Undescended Testes.
Lucas-Herald AK, Alkanhal KI, Caney E, Malik I, Alimussina M, McNeilly JD, Bradnock T, Lee B, Steven M, Flett M, O'Toole S, McGowan R, Faisal Ahmed S. Lucas-Herald AK, et al. Among authors: mcgowan r. J Endocr Soc. 2023 Dec 12;8(2):bvad153. doi: 10.1210/jendso/bvad153. eCollection 2024 Jan 5. J Endocr Soc. 2023. PMID: 38205164 Free PMC article.
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.
Jeffries L, Mis EK, McWalter K, Donkervoort S, Brodsky NN, Carpier JM, Ji W, Ionita C, Roy B, Morrow JS, Darbinyan A, Iyer K, Aul RB, Banka S, Chao KR, Cobbold L, Cohen S, Custodio HM, Drummond-Borg M, Elmslie F, Finanger E, Hainline BE, Helbig I, Hewson S, Hu Y, Jackson A, Josifova D, Konstantino M, Leach ME, Mak B, McCormick D, McGee E, Nelson S, Nguyen J, Nugent K, Ortega L, Goodkin HP, Roeder E, Roy S, Sapp K, Saade D, Sisodiya SM, Stals K, Towner S, Wilson W; Deciphering Developmental Disorders; Genomics England Research Consortium; Undiagnosed Disease Network; Khokha MK, Bönnemann CG, Lucas CL, Lakhani SA. Jeffries L, et al. Genet Med. 2024 Feb;26(2):101023. doi: 10.1016/j.gim.2023.101023. Epub 2023 Nov 7. Genet Med. 2024. PMID: 37947183
Diagnostic pitfalls in a young adult with new diabetes.
Below N, Morrison D, McGowan R, Jones GC. Below N, et al. Among authors: mcgowan r. Endocrinol Diabetes Metab Case Rep. 2023 Oct 12;2023(4):23-0024. doi: 10.1530/EDM-23-0024. Print 2023 Oct 1. Endocrinol Diabetes Metab Case Rep. 2023. PMID: 37855645 Free PMC article.
Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.
de Boer E, Ockeloen CW, Kampen RA, Hampstead JE, Dingemans AJM, Rots D, Lütje L, Ashraf T, Baker R, Barat-Houari M, Angle B, Chatron N, Denommé-Pichon AS, Devinsky O, Dubourg C, Elmslie F, Elloumi HZ, Faivre L, Fitzgerald-Butt S, Geneviève D, Goos JAC, Helm BM, Kini U, Lasa-Aranzasti A, Lesca G, Lynch SA, Mathijssen IMJ, McGowan R, Monaghan KG, Odent S, Pfundt R, Putoux A, van Reeuwijk J, Santen GWE, Sasaki E, Sorlin A, van der Spek PJ, Stegmann APA, Swagemakers SMA, Valenzuela I, Viora-Dupont E, Vitobello A, Ware SM, Wéber M, Gilissen C, Low KJ, Fisher SE, Vissers LELM, Wong MMK, Kleefstra T. de Boer E, et al. Among authors: mcgowan r. Genet Med. 2023 Nov;25(11):100962. doi: 10.1016/j.gim.2023.100962. Epub 2023 Sep 1. Genet Med. 2023. PMID: 37658852 Free article. No abstract available.
Childhood Hypertrophic Cardiomyopathy Caused by Beta-Myosin Heavy Chain Variants Is Associated With a More Obstructive but Less Arrhythmogenic Phenotype Than Myosin-Binding Protein C Disease.
Norrish G, Kadirrajah V, Field E, Dady K, Tollit J, McLeod K, McGowan R, Cervi E, Kaski JP. Norrish G, et al. Among authors: mcgowan r. Circ Genom Precis Med. 2023 Oct;16(5):483-485. doi: 10.1161/CIRCGEN.123.004118. Epub 2023 Jun 30. Circ Genom Precis Med. 2023. PMID: 37387224 No abstract available.
Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland.
Wright CF, Campbell P, Eberhardt RY, Aitken S, Perrett D, Brent S, Danecek P, Gardner EJ, Chundru VK, Lindsay SJ, Andrews K, Hampstead J, Kaplanis J, Samocha KE, Middleton A, Foreman J, Hobson RJ, Parker MJ, Martin HC, FitzPatrick DR, Hurles ME, Firth HV; DDD Study. Wright CF, et al. N Engl J Med. 2023 Apr 27;388(17):1559-1571. doi: 10.1056/NEJMoa2209046. Epub 2023 Apr 12. N Engl J Med. 2023. PMID: 37043637 Free PMC article.
58 results