Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity. od Robertson, S, Jenkins, Z, Morgan, T, Adès, L, Aftimos, S, Boute, O, Fiskerstrand, T, Garcia-Miñaur, S, Grix, A, Green, A, Der Kaloustian, V, Lewkonia, R, McInnes, B, Haelst, v, Mancini, G, Macini, G, Illés, T, Mortier, G, Newbury-Ecob, R, Nicholson, L, Scott, C, Ochman, K, Brozek, I, Shears, D, Superti-Furga, A

“…Some mutations present with a male phenotype that is characterized by a severe skeletal dysplasia, cardiac, and genitourinary malformations that leads to perinatal death. …”

Phenotypic and functional heterogeneity of CD4+ T cells. od Powrie, F, Mason, D

“…The monoclonal antibody MRC OX-22 divides rat CD4+ T cells into two phenotypically distinct groups. In this review, Fiona Powrie and Don Mason examine the functional properties and lineage relationships of these CD4+ T-cell subsets, and compare these findings to those made in humans and mice. © 1988.…”

Analysis of genetic and phenotypic heterogeneity in juvenile polyposis. od Woodford-Richens, K, Bevan, S, Churchman, M, Dowling, B, Jones, D, Norbury, C, Hodgson, S, Desai, D, Neale, K, Phillips, R, Young, J, Leggett, B, Dunlop, M, Rozen, P, Eng, C, Markie, D, Rodriguez-Bigas, M, Sheridan, E, Iwama, T, Eccles, D, Smith, G, Kim, J, Kim, K, Sampson, JR, Evans, G

Clustering genes by function to understand disease phenotypes od Andrews, T

“…Using pathway analysis I found significant functional associations for 329 individual phenotypes and show that 39% of these could explain the patients’ multiple co-morbid phenotypes; and multiple associated genes clustered within individual CNVs. …”

Analysis of frequency and phenotype of antigen-specific T cells. od Stock, A, Cerundolo, V

Enhanced methodologies for detecting phenotypic resistance in mycobacteria od Hammond, R, Baron, V, Lipworth, S, Gillespie, S

“…They are of importance in biology and clinical practice because their presence can be a phenotypic marker of an altered metabolism, including reversible resistance to antibiotics, prompting intense research.A useful stain for detecting lipid bodies in the lab is Nile red. …”

Advanced genomics and clinical phenotypes in psoriatic arthritis od Vecellio, M, Rodolfi, S, Selmi, C

“…We provide herein a review of the latest findings on PsA functional genomics highlighting the exciting developments in the field and how these might lead to a better understanding of gene regulation underpinning disease mechanisms and ultimately refine clinical phenotyping.…”

The evolution of mechanisms to produce phenotypic heterogeneity in microorganisms od Cooper, GA, Liu, M, Peña, J, West, SA

“…In bacteria and other microorganisms, the cells within a population often show extreme phenotypic variation. Different species use different mechanisms to determine how distinct phenotypes are allocated between individuals, including coordinated, random, and genetic determination. …”

The effect of M. tuberculosis lineage on clinical phenotype od Duc, HD, Geskus, RB, Zhao, Y, van Crevel, R, Thwaites, GE, Thuong, NTT, Walker, TM

“…Single-country or small observational data suggest differences in clinical phenotype between lineages. We present strain lineage and clinical phenotype data from 12,246 patients from 3 low-incidence and 5 high-incidence countries. …”

Specific disorders and broader phenotypes: the case of dyslexia. od Snowling, M

“…Two studies investigating the cognitive phenotype of dyslexia are described. Study 1 compared three groups of English and Italian children on speed of processing tasks: (a) children with dyslexia, (b) generally delayed poor readers and (c) CA-controls. …”

Directed phenotype switching as an effective antimelanoma strategy. od Sáez-Ayala, M, Montenegro, M, Sánchez-Del-Campo, L, Fernández-Pérez, M, Chazarra, S, Freter, R, Middleton, M, Piñero-Madrona, A, Cabezas-Herrera, J, Goding, C, Rodríguez-López, J

“…Therapeutic resistance in melanoma and other cancers arises via irreversible genetic, and dynamic phenotypic, heterogeneity. Here, we use directed phenotype switching in melanoma to sensitize melanoma cells to lineage-specific therapy. …”

Separation of suppressor and killer T cells by surgace phenotype. od Beverley, P, Woody, J, Dunkley, M, Feldmann, M, McKenzie, I

Canine diabetes mellitus: from phenotype to genotype. od Catchpole, B, Kennedy, L, Davison, L, Ollier, W

Fossilization can mislead analyses of phenotypic disparity od Smith, TJ, Sansom, RS, Pisani, D, Donoghue, PCJ

“…Analyses of morphological disparity can incorporate living and fossil taxa to facilitate the exploration of how phenotypic variation changes through time. However, taphonomic processes introduce non-random patterns of data loss in fossil data and their impact on perceptions of disparity is unclear. …”

The phenotype of Floating-Harbor syndrome in 10 patients. od White, S, Morgan, A, Da Costa, A, Lacombe, D, Knight, S, Houlston, R, Whiteford, M, Newbury-Ecob, R, Hurst, J

“…The diagnosis can be difficult as the facial changes are subtle in infancy, and the features of short stature, delayed speech, and delayed bone age are frequently encountered in clinical practice. We refine the phenotype in FHS by reporting clinical findings in 10 typically affected individuals ranging in age from 7 to 34 years and present a mother and daughter who display some features of FHS. …”

Sex ratio of multiple sclerosis and clinical phenotype. od Ramagopalan, S, Byrnes, J, Orton, S, Dyment, D, Guimond, C, Yee, I, Ebers, G, Sadovnick, A

Plant proteases: from phenotypes to molecular mechanisms. od van der Hoorn, R

“…The biological role of these proteases is mostly unknown, but mutant alleles, gene silencing, and overexpression studies have provided phenotypes for a growing number of proteases. The aim of this review is to show the diversity of the processes that are regulated by proteases, and to summarize the current knowledge of the underlying molecular mechanisms. …”

Are there clinical phenotypes of homozygous sickle cell disease? od Alexander, N, Higgs, D, Dover, G, Serjeant, G

“…The distribution of clinical features was examined in subjects with homozygous sickle cell (SS) disease in the Jamaican Cohort Study to determine whether there is evidence of distinct clustering of symptoms or clinical phenotypes. A twofold model yielded groups that could be interpreted as painful crisis or leg ulcer phenotypes and 78% of patients were classified with 95% confidence into one of these. …”

Capturing metabolite channeling in metabolic flux phenotypes. od Williams, T, Sweetlove, L, Ratcliffe, R

Non-parametric population analysis of cellular phenotypes od Singh, S, Janoos, F, Pécot, T, Caserta, E, Huang, K, Rittscher, J, Leone, G, Machiraju, R

“…Methods to quantify cellular-level phenotypic differences between genetic groups are a key tool in genomics research. …”