Concepedia

FAM111A Mutations Result in Hypoparathyroidism and Impaired Skeletal Development

Sheila Unger, Maria W. Górna, Antony Le Béchec, Sónia do Vale-Pereira, Maria Francesca Bedeschi, Stefan Geiberger, Giedré Grigelioniené, Eva Horemuzova, Faustina Lalatta, Ekkehart Lausch,

The American Journal of Human Genetics · 2013 · 138 citations · 18 references

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18

An integrated map of genetic variation from 1,092 human genomes

Nature · 2012 · 8.2K citations · Full text

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dbSNP: the NCBI database of genetic variation

Stephen T. Sherry · Nucleic Acids Research · 2001 · 7.8K citations · Full text

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The CoLaus study: a population-based study to investigate the epidemiology and genetic determinants of cardiovascular risk factors and metabolic syndrome

Mathieu Firmann, Vladimir Mayor, Pedro Marques‐Vidal et al. · BMC Cardiovascular Disorders · 2008 · 742 citations · Full text

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Mutation of TBCE causes hypoparathyroidism– retardation–dysmorphism and autosomal recessive Kenny–Caffey syndrome

Ruti Parvari, Nili Grossman, Bart Loeys et al. · Nature Genetics · 2002 · 269 citations

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Parathyroid hormone is essential for normal fetal bone formation

Dengshun Miao, Bin He, Andrew C. Karaplis et al. · Journal of Clinical Investigation · 2002 · 235 citations · Full text

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