Jones G - Search Results

1

The PHF21A neurodevelopmental disorder: an evaluation of clinical data from 13 patients.

Poole RL, Bijlsma EK, Houge G, Jones G, Mikštienė V, Preikšaitienė E, Thompson L, Tatton-Brown K. Poole RL, et al. Among authors: jones g. Clin Dysmorphol. 2023 Apr 1;32(2):49-54. doi: 10.1097/MCD.0000000000000455. Epub 2023 Feb 21. Clin Dysmorphol. 2023. PMID: 36876344

2

[No title available]

[No authors listed] [No authors listed] PMID: 36876336

3

A novel mutation in NIPBL in a case of Cornelia de Lange syndrome confirmed with genetic testing following intrauterine fetal death. [Corrected].

Jones GE, Tanteles GA, Vasudevan PC, Porter H, Robertson L. Jones GE, et al. J Clin Pathol. 2014 Mar;67(3):283-4. doi: 10.1136/jclinpath-2013-201856. Epub 2013 Nov 4. J Clin Pathol. 2014. PMID: 24189319 No abstract available.

4

Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations.

Jones GE, Ostergaard P, Moore AT, Connell FC, Williams D, Quarrell O, Brady AF, Spier I, Hazan F, Moldovan O, Wieczorek D, Mikat B, Petit F, Coubes C, Saul RA, Brice G, Gordon K, Jeffery S, Mortimer PS, Vasudevan PC, Mansour S. Jones GE, et al. Eur J Hum Genet. 2014 Jul;22(7):881-7. doi: 10.1038/ejhg.2013.263. Epub 2013 Nov 27. Eur J Hum Genet. 2014. PMID: 24281367 Free PMC article.

5

Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design.

Tolonen JP, Parolin Schnekenberg R, McGowan S, Sims D, McEntagart M, Elmslie F, Shears D, Stewart H, Tofaris GK, Dabir T, Morrison PJ, Johnson D, Hadjivassiliou M, Ellard S, Shaw-Smith C, Znaczko A, Dixit A, Suri M, Sarkar A, Harrison RE, Jones G, Houlden H, Ceravolo G, Jarvis J, Williams J, Shanks ME, Clouston P, Rankin J, Blumkin L, Lerman-Sagie T, Ponger P, Raskin S, Granath K, Uusimaa J, Conti H, McCann E, Joss S, Blakes AJM, Metcalfe K, Kingston H, Bertoli M, Kneen R, Lynch SA, Martínez Albaladejo I, Moore AP, Jones WD; Genomics England Research Consortium; Becker EBE, Németh AH. Tolonen JP, et al. Among authors: jones g, jones wd. Mov Disord. 2024 Jan;39(1):141-151. doi: 10.1002/mds.29651. Epub 2023 Nov 14. Mov Disord. 2024. PMID: 37964426 Free PMC article.

6

Should we offer prenatal testing for 17q12 microdeletion syndrome to all cases with prenatally diagnosed echogenic kidneys? Prenatal findings in two families with 17q12 microdeletion syndrome and review of the literature.

Jones GE, Mousa HA, Rowley H, Houtman P, Vasudevan PC. Jones GE, et al. Prenat Diagn. 2015 Dec;35(13):1336-41. doi: 10.1002/pd.4701. Epub 2015 Nov 9. Prenat Diagn. 2015. PMID: 26429400 Review.

7

14q22.3 Microdeletion encompassing OTX2 in a five-generation family with microphthalmia, pituitary abnormalities, and intellectual disability.

Jones GE, Robertson L, Warman P, Craft EV, Cresswell L, Vasudevan PC. Jones GE, et al. Ophthalmic Genet. 2016 Sep;37(3):352-3. doi: 10.3109/13816810.2015.1059463. Epub 2016 Feb 9. Ophthalmic Genet. 2016. PMID: 26860946 No abstract available.

8

Traboulsi syndrome caused by mutations in ASPH: An autosomal recessive disorder with overlapping features of Marfan syndrome.

Jones G, Johnson K, Eason J, Hamilton M, Osio D, Kanani F, Baptista J, Suri M. Jones G, et al. Eur J Med Genet. 2022 Oct;65(10):104572. doi: 10.1016/j.ejmg.2022.104572. Epub 2022 Jul 31. Eur J Med Genet. 2022. PMID: 35918038

9

An approach to familial lymphoedema.

Jones GE, Mansour S. Jones GE, et al. Clin Med (Lond). 2017 Dec;17(6):552-557. doi: 10.7861/clinmedicine.17-6-552. Clin Med (Lond). 2017. PMID: 29196357 Free PMC article. Review.

10

Estimating the clinical prevalence of Wilson's disease in the UK.

Wijayasiri P, Hayre J, Nicholson ES, Kaye P, Wilkes EA, Evans J, Aithal GP, Jones G, Pearce F, Aravinthan AD. Wijayasiri P, et al. Among authors: jones g. JHEP Rep. 2021 Jul 7;3(5):100329. doi: 10.1016/j.jhepr.2021.100329. eCollection 2021 Oct. JHEP Rep. 2021. PMID: 34381985 Free PMC article.

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