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PubMed 18410548 Aryl hydrocarbon receptor interacting protein (AIP) gene mutation analysis in children and adolescents with sporadic pituitary adenomas. OBJECTIVE: Pituitary adenomas occur rarely in childhood and ado 1.59 KB 2015-11-24 26 28 2021-12-05
PubMed 18385794 Identification of novel mutations and sequence variants in the SOX2 and CHX10 genes in patients with anophthalmia/microphthalmia. PURPOSE: Mutations in the SOX2 and CHX10 genes have been reported in p 2.22 KB 2015-11-24 45 48 2021-12-05
PubMed 18050247 Identification of novel susceptibility genes in childhood-onset systemic lupus erythematosus using a uniquely designed candidate gene pathway platform. OBJECTIVE: Childhood-onset systemic lupus erythe 1.99 KB 2015-11-23 28 24 2021-12-05
PubMed 17959715 Polymorphic MLH1 and risk of cancer after methylating chemotherapy for Hodgkin lymphoma. BACKGROUND AND OBJECTIVE: Methylating agents are effective chemotherapy agents for Hodgkin lymphoma, but are as 2.26 KB 2015-11-23 28 38 2021-12-05
PubMed 17910065 A novel missense mutation in the paired domain of human PAX9 causes oligodontia. PAX9 and MSX1 are transcription factors that play essential roles in craniofacial and limb development. In humans, muta 1.13 KB 2015-11-23 34 20 2021-12-05
PubMed 17683901 An improved tetra-primer PCR approach for the detection of the FGFR3 G380R mutation responsible for achondroplasia. Achondroplasia is the most common form of dwarfism and has an incidence of approxima 1.18 KB 2015-11-23 28 18 2021-12-05
PubMed 17671735 Coincidence of mutations in different connexin genes in Hungarian patients. Mutations in the GJB2 gene are the most common cause of hereditary prelingual sensorineural hearing impairment in Europe. Se 1.26 KB 2015-12-28 42 30 2021-12-05
PubMed 17549393 A novel IRF6 nonsense mutation (Y67X) in a German family with Van der Woude syndrome. Van der Woude syndrome (VWS) is the most common type of syndromic orofacial cleft, which accounts for approximatel 1.29 KB 2015-11-23 43 26 2021-12-05
PubMed 17192049 Cytochrome p4501A1 gene variants as susceptibility marker for prostate cancer. CYP1A1 activates environmental procarcinogens and catalyzes oxidative metabolism of estrogens and is likely to play an im 1.27 KB 2015-11-23 27 16 2021-12-05
PubMed 17083016 Genetic polymorphism of the binding domain of surfactant protein-A2 increases susceptibility to meningococcal disease. BACKGROUND: Meningococcal disease occurs after colonization of the nasopharynx wi 1.72 KB 2015-11-23 29 32 2021-12-05