- ... with no history of the disorder in their family. When caused by mutations in the DOCK6 or EOGT gene, Adams-Oliver syndrome is inherited in an autosomal recessive ...
- ... Sikora J, Zivny J, Sovová J, Hart TC, Adams JN, Elleder M, Kapp K, Haws R, Cornell LD, Kmoch S, Hart PS. Clinical and molecular characterization of a family with a dominant renin gene mutation and response to treatment with fludrocortisone. Clin ...
- ... Sikora J, Zivny J, Sovova J, Hart TC, Adams JN, Elleder M, Kapp K, Haws R, Cornell LD, Kmoch S, Hart PS. Clinical and molecular characterization of a family with a dominant renin gene mutation and response to treatment with fludrocortisone. Clin ...
- ... Sikora J, Zivny J, Sovova J, Hart TC, Adams JN, Elleder M, Kapp K, Haws R, Cornell LD, Kmoch S, Hart PS. Clinical and molecular characterization of a family with a dominant renin gene mutation and response to treatment with fludrocortisone. Clin ...
- ... Raygada MJ, Kozupa A, Merino MJ, Makey D, Adams KT, Venisse A, Gimenez-Roqueplo AP, Pacak K. Penetrance and clinical ... CA. New genes and/or molecular pathways associated with adrenal hyperplasias ...
- NLM Digital Collections - The cyclopaedia of practical medicine: comprising treatises on the nature and treatment of ...Publication: Philadelphia : Blanchard and Lea, 1849-59... the supposed hereditary properties of Diseases, by Joseph Adams, M. D. &c. p. 66.) Cataract is frequently observed as a congenital disease in members of the same family; but in this case it is found not to appear in successive gene- rations as if it were at once connate ...
- ... A new member of the transferrin receptor-like family. J Biol Chem. ... sequencing gene panel. Eur J Haematol. 2017; 98 :228–34. [ ...
- ... L-IDURONIDASE; IDUA Gene and Variant Databases NCBI Gene ClinVar References Beesley CE, Meaney CA, Greenland G, Adams V, Vellodi A, Young EP, Winchester BG. Mutational analysis of 85 mucopolysaccharidosis type I families: frequency of known mutations, identification of 17 novel ...
- ... Ptacek LJ. A nonsense mutation of the MASS1 gene in a family with febrile and afebrile seizures. Ann Neurol. 2002; 52 :654–7. [ PubMed : 12402266 ] Pearsall N, Bhattacharya G, Wisecarver J, Adams J, Cosgrove D, Kimberling W. Usherin expression is ...
- NLM Digital Collections - Highly Repeated Sequences in Mammalian GenomesPublication: The Academic Press, 1982... the 3’ end of the human 6-globin gene (Adams ef al., 1980; Kaufman ef al., 1980). This and several other somewhat divergent randomly selected members of the family were cloned from a human library. Portions of ...
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