Dwarfism Research Today is a free monthly online journal that collates and summarizes the latest research about Dwarfism, including details on genetics, diet, mental and motor development.

Volume 5 (2009), Issue 8 (August)

1. The p.A2215D thyroglobulin gene mutation leads to deficient synthesis and secretion of the mutated protein and congenital hypothyroidism with wide phenotype variation.
   J Clin Endocrinol Metab, 94(8): 2938-44. [Abstract] [Full-text]
2. Human DNA damage response and repair deficiency syndromes: linking genomic instability and cell cycle checkpoint proficiency.
   DNA Repair (Amst), 8(9): 1139-52. [Abstract] [Full-text]
3. Progeroid syndromes and UV-induced oxidative DNA damage.
   J Investig Dermatol Symp Proc, 14(1): 8-14. [Abstract] [Full-text]
4. Nucleic acid binding activity of human Cockayne syndrome B protein and identification of Ca(2+) as a novel metal cofactor.
   J Mol Biol, 391(5): 820-32. [Abstract] [Full-text]
5. Detecting points as developmental delay based on the life-history development and urosome deformity of the harpacticoid copepod, Tigriopus japonicus sensu lato, following exposure to benzo(a)pyrene.
   Chemosphere, 76(10): 1435-9. [Abstract] [Full-text]
6. Health-related quality of life of children and adolescents with growth hormone deficiency or idiopathic short stature - part 2: available results and future directions.
   Horm Res, 72(2): 74-81. [Abstract] [Full-text]
7. Assessment of health-related quality of life and patient satisfaction in children and adolescents with growth hormone deficiency or idiopathic short stature - part 1: a critical evaluation of available tools.
   Horm Res, 72(2): 65-73. [Abstract] [Full-text]
8. Refinement of the 12q14 microdeletion syndrome: primordial dwarfism and developmental delay with or without osteopoikilosis.
   Eur J Hum Genet, 17(9): 1141-7. [Abstract] [Full-text]
9. Dwarf 88, a novel putative esterase gene affecting architecture of rice plant.
   Plant Mol Biol, 71(3): 265-76. [Abstract] [Full-text]
10. Elevated free thyroxine levels detected by a neonatal screening system.
    Pediatr Res, 66(3): 312-6. [Abstract] [Full-text]
11. Beta1 integrin deficiency results in multiple abnormalities of the knee joint.
    J Biol Chem, 284(35): 23780-92. [Abstract] [Full-text]
12. Analysis of hypertrophic thyrotrophs in pituitaries of athyroid Pax8-/- mice.
    Endocrinology, 150(9): 4443-9. [Abstract] [Full-text]
13. A plant-specific calreticulin is a key retention factor for a defective brassinosteroid receptor in the endoplasmic reticulum.
    Proc Natl Acad Sci U S A, 106(32): 13612-7. [Abstract] [Full-text]
14. Overexpression of the downward leaf curling (DLC) gene from melon changes leaf morphology by controlling cell size and shape in Arabidopsis leaves.
    Mol Cells, 28(2): 93-8. [Abstract] [Full-text]
15. Congenital disorders of the thyroid: hypo/hyper.
    Endocrinol Metab Clin North Am, 38(3): 491-507. [Abstract] [Full-text]

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