Advanced Search
Display options
Filter resources
Text Availability
Article type
Publication date
Species
Language
Sex
Age
Showing 1 to 4 of 4 entries
Sorted by: Best Match Show Resources per page
Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus.

European journal of human genetics : EJHG

Sansbury FH, Kirel B, Caswell R, Lango Allen H, Flanagan SE, Hattersley AT, Ellard S, Shaw-Smith CJ.
PMID: 26559129
Eur J Hum Genet. 2015 Dec;23(12):1750. doi: 10.1038/ejhg.2015.208.

No abstract available.

Cite
Sansbury FH, Kirel B, Caswell R, et al. Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus. Eur J Hum Genet. 2015;23(12):1750doi: 10.1038/ejhg.2015.208.
Sansbury, F. H., Kirel, B., Caswell, R., Lango Allen, H., Flanagan, S. E., Hattersley, A. T., Ellard, S., & Shaw-Smith, C. J. (2015). Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus. European journal of human genetics : EJHG, 23(12), 1750. https://doi.org/10.1038/ejhg.2015.208
Sansbury, Francis H, et al. "Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus." European journal of human genetics : EJHG vol. 23,12 (2015): 1750. doi: https://doi.org/10.1038/ejhg.2015.208
Sansbury FH, Kirel B, Caswell R, Lango Allen H, Flanagan SE, Hattersley AT, Ellard S, Shaw-Smith CJ. Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus. Eur J Hum Genet. 2015 Dec;23(12):1750. doi: 10.1038/ejhg.2015.208. PMID: 26559129; PMCID: PMC4795206.
Copy Download .nbib Format: NLM
Familial interstitial nephritis: 42 years from case series to genetic diagnosis.

Clinical nephrology

Clissold RL, Bingham C, Shaw-Smith C.
PMID: 30686289
Clin Nephrol. 2019 Jun;91(6):386-388. doi: 10.5414/CN109654.

No abstract available.

Cite
Clissold RL, Bingham C, Shaw-Smith C. Familial interstitial nephritis: 42 years from case series to genetic diagnosis. Clin Nephrol. 2019;91(6):386-388doi: 10.5414/CN109654.
Clissold, R. L., Bingham, C., & Shaw-Smith, C. (2019). Familial interstitial nephritis: 42 years from case series to genetic diagnosis. Clinical nephrology, 91(6), 386-388. https://doi.org/10.5414/CN109654
Clissold, Rhian L, et al. "Familial interstitial nephritis: 42 years from case series to genetic diagnosis." Clinical nephrology vol. 91,6 (2019): 386-388. doi: https://doi.org/10.5414/CN109654
Clissold RL, Bingham C, Shaw-Smith C. Familial interstitial nephritis: 42 years from case series to genetic diagnosis. Clin Nephrol. 2019 Jun;91(6):386-388. doi: 10.5414/CN109654. PMID: 30686289.
Copy Download .nbib Format: NLM
Missense substitutions at a conserved 14-3-3 binding site in HDAC4 cause a novel intellectual disability syndrome.

HGG advances

Wakeling E, McEntagart M, Bruccoleri M, Shaw-Smith C, Stals KL, Wakeling M, Barnicoat A, Beesley C, Hanson-Kahn AK, Kukolich M, Stevenson DA, Campeau PM, Ellard S, Elsea SH, Yang XJ, Caswell RC.
PMID: 33537682
HGG Adv. 2021 Jan 14;2(1):100015. doi: 10.1016/j.xhgg.2020.100015.

Histone deacetylases play crucial roles in the regulation of chromatin structure and gene expression in the eukaryotic cell, and disruption of their activity causes a wide range of developmental disorders in humans. Loss-of-function alleles of

Cite
Wakeling E, McEntagart M, Bruccoleri M, et al. Missense substitutions at a conserved 14-3-3 binding site in HDAC4 cause a novel intellectual disability syndrome. HGG Adv. 2021;2(1):100015doi: 10.1016/j.xhgg.2020.100015.
Wakeling, E., McEntagart, M., Bruccoleri, M., Shaw-Smith, C., Stals, K. L., Wakeling, M., Barnicoat, A., Beesley, C., Hanson-Kahn, A. K., Kukolich, M., Stevenson, D. A., Campeau, P. M., Ellard, S., Elsea, S. H., Yang, X. J., & Caswell, R. C. (2021). Missense substitutions at a conserved 14-3-3 binding site in HDAC4 cause a novel intellectual disability syndrome. HGG advances, 2(1), 100015. https://doi.org/10.1016/j.xhgg.2020.100015
Wakeling, Emma, et al. "Missense substitutions at a conserved 14-3-3 binding site in HDAC4 cause a novel intellectual disability syndrome." HGG advances vol. 2,1 (2021): 100015. doi: https://doi.org/10.1016/j.xhgg.2020.100015
Wakeling E, McEntagart M, Bruccoleri M, Shaw-Smith C, Stals KL, Wakeling M, Barnicoat A, Beesley C, Hanson-Kahn AK, Kukolich M, Stevenson DA, Campeau PM, Ellard S, Elsea SH, Yang XJ, Caswell RC. Missense substitutions at a conserved 14-3-3 binding site in HDAC4 cause a novel intellectual disability syndrome. HGG Adv. 2021 Jan 14;2(1):100015. doi: 10.1016/j.xhgg.2020.100015. PMID: 33537682; PMCID: PMC7841527.
Copy Download .nbib Format: NLM
Paternal Incarceration and Adolescent Well-Being: Life Course Contingencies and Other Moderators.

The Journal of criminal law & criminology

Swisher RR, Shaw-Smith UR.
PMID: 27239076
J Crim Law Criminol. 2015;104(4).

Parental incarceration has been found to be associated with a wide range of negative outcomes in both childhood and adolescence. This Article uses data from the National Longitudinal Study of Adolescent Health (Add Health) to focus on the conditions...

Cite
Swisher RR, Shaw-Smith UR. Paternal Incarceration and Adolescent Well-Being: Life Course Contingencies and Other Moderators. J Crim Law Criminol. 2015;104(4)
Swisher, R. R., & Shaw-Smith, U. R. (2015). Paternal Incarceration and Adolescent Well-Being: Life Course Contingencies and Other Moderators. The Journal of criminal law & criminology, 104(4), .
Swisher, Raymond R, and Shaw-Smith, Unique R. "Paternal Incarceration and Adolescent Well-Being: Life Course Contingencies and Other Moderators." The Journal of criminal law & criminology vol. 104,4 (2015).
Swisher RR, Shaw-Smith UR. Paternal Incarceration and Adolescent Well-Being: Life Course Contingencies and Other Moderators. J Crim Law Criminol. 2015;104(4). PMID: 27239076; PMCID: PMC4883585.
Copy Download .nbib Format: NLM
Showing 1 to 4 of 4 entries