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

Year Number of Results
1997 2
1999 2
2000 4
2001 4
2003 2
2005 2
2006 2
2007 1
2008 1
2009 1
2010 3
2011 8
2012 6
2013 3
2014 5
2015 7
2016 7
2017 14
2018 11
2019 4
2020 15
2021 8
2022 9
2023 12
2024 3

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Search Results

114 results

Results by year

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Page 1
Achondroplasia: Update on diagnosis, follow-up and treatment.
Leiva-Gea A, Martos Lirio MF, Barreda Bonis AC, Marín Del Barrio S, Heath KE, Marín Reina P, Guillén-Navarro E, Santos Simarro F, Riaño Galán I, Yeste Fernández D, Leiva-Gea I. Leiva-Gea A, et al. Among authors: heath ke. An Pediatr (Engl Ed). 2022 Dec;97(6):423.e1-423.e11. doi: 10.1016/j.anpede.2022.10.004. Epub 2022 Nov 5. An Pediatr (Engl Ed). 2022. PMID: 36347803 Free article. Review.
Lifetime impact of achondroplasia study in Europe (LIAISE): findings from a multinational observational study.
Maghnie M, Semler O, Guillen-Navarro E, Selicorni A, Heath KE, Haeusler G, Hagenäs L, Merker A, Leiva-Gea A, González VL, Raimann A, Rehberg M, Santos-Simarro F, Ertl DA, Gregersen PA, Onesimo R, Landfeldt E, Jarrett J, Quinn J, Rowell R, Pimenta J, Cohen S, Butt T, Shediac R, Mukherjee S, Mohnike K. Maghnie M, et al. Among authors: heath ke. Orphanet J Rare Dis. 2023 Mar 15;18(1):56. doi: 10.1186/s13023-023-02652-2. Orphanet J Rare Dis. 2023. PMID: 36922864 Free PMC article.
Evolution of clinical and radiological presentations of spondyloepimetaphyseal dysplasia, RPL13-related: Description of 11 further cases.
Díaz-González F, Parrón-Pajares M, Lucas-Castro E, Modamio-Høybjør S, Sentchordi-Montané L, Seidel V, Prieto P, Tarraso-Urios G, Codina-Sola M, Cueto-González AM, Ballesta-Martínez MJ, Santos-Simarro F, Sousa SB, Heath KE. Díaz-González F, et al. Among authors: heath ke. Clin Genet. 2023 Jul;104(1):100-106. doi: 10.1111/cge.14351. Epub 2023 Apr 30. Clin Genet. 2023. PMID: 37121912 Review.
Prenatal Diagnosis of Acromelic Frontonasal Dysostosis.
Martínez-Payo C, García-Santiago FA, Heath KE, Gavin E, Mansilla-Aparicio E. Martínez-Payo C, et al. Among authors: heath ke. Mol Syndromol. 2021 Mar;12(1):41-45. doi: 10.1159/000512304. Epub 2020 Dec 15. Mol Syndromol. 2021. PMID: 33776626 Free PMC article.
Variable skeletal phenotypes associated with biallelic variants in PRKG2.
Pagnamenta AT, Diaz-Gonzalez F, Banos-Pinero B, Ferla MP, Toosi MB, Calder AD, Karimiani EG, Doosti M, Wainwright A, Wordsworth P, Bailey K, Ejeskär K, Lester T, Maroofian R, Heath KE, Tajsharghi H, Shears D, Taylor JC; Genomics England Research Consortium. Pagnamenta AT, et al. Among authors: heath ke. J Med Genet. 2022 Oct;59(10):947-950. doi: 10.1136/jmedgenet-2021-108027. Epub 2021 Nov 15. J Med Genet. 2022. PMID: 34782440 Free PMC article. No abstract available.
Heterozygous aggrecan variants are associated with short stature and brachydactyly: Description of 16 probands and a review of the literature.
Sentchordi-Montané L, Aza-Carmona M, Benito-Sanz S, Barreda-Bonis AC, Sánchez-Garre C, Prieto-Matos P, Ruiz-Ocaña P, Lechuga-Sancho A, Carcavilla-Urquí A, Mulero-Collantes I, Martos-Moreno GA, Del Pozo A, Vallespín E, Offiah A, Parrón-Pajares M, Dinis I, Sousa SB, Ros-Pérez P, González-Casado I, Heath KE. Sentchordi-Montané L, et al. Among authors: heath ke. Clin Endocrinol (Oxf). 2018 Jun;88(6):820-829. doi: 10.1111/cen.13581. Epub 2018 Mar 24. Clin Endocrinol (Oxf). 2018. PMID: 29464738 Free article. Review.
Interval delivery of 5HT2A agonists using multilayered polymer films.
Hossain M, Sulochana SP, Heath KE, Bari SMI, Brewster P, Barnes J, Munivar A, Walker GM, Puleo DA, Werfel TA. Hossain M, et al. Among authors: heath ke. J Biomed Mater Res A. 2023 Jun;111(6):790-800. doi: 10.1002/jbm.a.37497. Epub 2023 Jan 6. J Biomed Mater Res A. 2023. PMID: 36606344
Identification of 15 novel partial SHOX deletions and 13 partial duplications, and a review of the literature reveals intron 3 to be a hotspot region.
Benito-Sanz S, Belinchon-Martínez A, Aza-Carmona M, de la Torre C, Huber C, González-Casado I, Ross JL, Thomas NS, Zinn AR, Cormier-Daire V, Heath KE. Benito-Sanz S, et al. Among authors: heath ke. J Hum Genet. 2017 Feb;62(2):229-234. doi: 10.1038/jhg.2016.113. Epub 2016 Sep 8. J Hum Genet. 2017. PMID: 27604558 Review.
Short stature and scoliosis: revealing signs of ultrarare skeletal dysplasia.
Rodríguez Del Rosario S, Modamio-Høybjør S, Heath KE, Bahillo-Curieses MP. Rodríguez Del Rosario S, et al. Among authors: heath ke. An Pediatr (Engl Ed). 2023 Nov;99(5):364-365. doi: 10.1016/j.anpede.2023.10.005. Epub 2023 Nov 4. An Pediatr (Engl Ed). 2023. PMID: 37932164 Free article. No abstract available.
Genetic basis of proportional short stature.
Campos-Barros A, Heath KE, Argente J. Campos-Barros A, et al. Among authors: heath ke. Adv Exp Med Biol. 2005;567:341-83. doi: 10.1007/0-387-26274-1_14. Adv Exp Med Biol. 2005. PMID: 16370145 Review. No abstract available.
114 results