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 7 (2011), Issue 5 (May)

1. Cockayne syndrome caused by paternally inherited 5 Mb deletion of 10q11.2 and a frameshift mutation of ERCC6.
   Eur J Med Genet, 54(3): 272-6. [Abstract] [Full-text]
2. Congenital hypothyroidism of dogs and cats: A review.
   N Z Vet J, 59(3): 115-22. [Abstract] [Full-text]
3. Congenital hypothyroidism of dogs and cats: a review.
   N Z Vet J, 59(3): 115-22. [Abstract] [Full-text]
4. Hypochondroplasia due to FGFR3 gene mutation (N540K) and mosaic form of Down syndrome in the same patient.
   J Appl Genet, 52(2): 209-12. [Abstract] [Full-text]
5. Periodontal disease in adults with untreated congenital growth hormone deficiency: a case-control study.
   J Clin Periodontol, 38(6): 525-31. [Abstract] [Full-text]
6. Regulation of Tcf7 by Runx2 in chondrocyte maturation and proliferation.
   J Bone Miner Metab, 29(3): 291-9. [Abstract] [Full-text]
7. The TSH threshold in neonatal screening for congenital hypothyroidism: a variable solution.
   Arch Dis Child, 96(6): 565-6. [Abstract] [Full-text]
8. Syndromes of resistance to TSH.
   Ann Endocrinol (Paris), 72(2): 60-3. [Abstract] [Full-text]
9. DUOXS defects: Genotype-phenotype correlations.
   Ann Endocrinol (Paris), 72(2): 82-6. [Abstract] [Full-text]
10. Broiler performance, hatching egg, and age relationships of progeny from standard and dwarf broiler dams.
    Poult Sci, 90(6): 1364-70. [Abstract] [Full-text]
11. Evaluation and treatment of adult growth hormone deficiency: an Endocrine Society clinical practice guideline.
    J Clin Endocrinol Metab, 96(6): 1587-609. [Abstract] [Full-text]
12. Type 1 collagenopathy presenting with a Russell-Silver phenotype.
    Am J Med Genet A, 155(6): 1414-8. [Abstract] [Full-text]
13. The smallest teeth in the world are caused by mutations in the PCNT gene.
    Am J Med Genet A, 155(6): 1398-403. [Abstract] [Full-text]
14. Distinctive phenotype in 9 patients with deletion of chromosome 1q24-q25.
    Am J Med Genet A, 155(6): 1336-51. [Abstract] [Full-text]
15. Is autosomal recessive Silver-Russel syndrome a separate entity or is it part of the 3-M syndrome spectrum?
    Am J Med Genet A, 155(6): 1236-45. [Abstract] [Full-text]
16. The coexistence of a novel inactivating mutant thyrotropin receptor allele with two thyroid peroxidase mutations: a genotype-phenotype correlation.
    J Clin Endocrinol Metab, 96(6): E1001-6. [Abstract] [Full-text]
17. Mutations in the NKX2.5 gene and the PAX8 promoter in a girl with thyroid dysgenesis.
    J Clin Endocrinol Metab, 96(6): E977-81. [Abstract] [Full-text]
18. Effects of once-weekly sustained-release growth hormone: a double-blind, placebo-controlled study in adult growth hormone deficiency.
    J Clin Endocrinol Metab, 96(6): 1718-26. [Abstract] [Full-text]
19. Subtle health impairment and socioeducational attainment in young adult patients with congenital hypothyroidism diagnosed by neonatal screening: a longitudinal population-based cohort study.
    J Clin Endocrinol Metab, 96(6): 1771-82. [Abstract] [Full-text]
20. Psychosocial dwarfism: psychopathological aspects and putative neuroendocrine markers.
    Psychiatry Res, 188(1): 96-101. [Abstract] [Full-text]
21. Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia.
    J Med Genet, 48(6): 417-21. [Abstract] [Full-text]
22. Fibroblast growth factor receptor 3 (FGFR3) is a strong heat shock protein 90 (Hsp90) client: implications for therapeutic manipulation.
    J Biol Chem, 286(22): 19597-604. [Abstract] [Full-text]
23. Global defects in collagen secretion in a Mia3/TANGO1 knockout mouse.
    J Cell Biol, 193(5): 935-51. [Abstract] [Full-text]

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