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Clinical disease
- ... GM, Ciceri E, Carrara F, Zeviani M. Mitochondrial disease associated with the T8993G mutation of the mitochondrial ATPase 6 gene: a clinical, biochemical, and molecular study in six families. J ...
- ... dosage map of Chromosome 18: a map with clinical utility. Genet Med. 2009 Nov;11(11):778-82. doi: 10.1097/GIM.0b013e3181b6573d. Citation on PubMed Ensembl Human Map View Gilbert F. Disease genes and chromosomes: disease maps of the human ...
- ... U, List A, MacBeth KJ. Lenalidomide as a disease-modifying agent in patients with del(5q) myelodysplastic syndromes: linking mechanism of action to clinical outcomes. Ann Hematol. 2014 Jan;93(1):1- ...
- ... Molecular characterization of partial trisomy 16q24.1-qter: clinical report and ... 16 Gilbert F. Disease genes and chromosomes: disease maps of the human ...
- ... genomic rearrangements of 17q12 are associated with renal disease, diabetes, and ... spectrum associated with recurrent genomic rearrangements in chromosome ...
- ... on PubMed Gilbert F. Disease genes and chromosomes: disease maps of the ... (20)(p13q13.1): clinical report and review of the trisomy 20q phenotype. ...
- ... Central Bittel DC, Butler MG. Prader-Willi syndrome: clinical genetics, cytogenetics and molecular biology. Expert Rev Mol ... Micheli R, Gagliardi C, Balottin U. Relationship between clinical and genetic features in "inverted duplicated chromosome 15" ...
- ... 2 Falk RE, Casas KA. Chromosome 2q37 deletion: clinical and molecular aspects. Am J Med Genet C ... The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in ...
- ... S, Lin-Su K, McElreavey K, New MI. Clinical, hormonal and cytogenetic evaluation of 46,XX males ... chromosomal mosaicism and X-inactivation in the high clinical variability of the microphthalmia with linear skin defects ( ...
- ... B. Genetic aberrations including chromosome 1 abnormalities and clinical features of plasma cell leukemia. Leuk Res. 2009 ... 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome. Am J Hum Genet. ...