0000000000608938

AUTHOR

Rosa Maria Avarello

showing 2 related works from this author

Migraine Headaches in a High School Student Population.

1991

medicine.medical_specialtyStudent populationMigrainebusiness.industrymedicineNeurology (clinical)General MedicineHeadachesmedicine.symptomPsychiatrymedicine.diseasebusinessCephalalgia
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Ulnar ray defect in an infant with a 6q21;7q31.2 translocation: Further evidence for the existence of a limb defect gene in 6q21

1995

Ectrodactyly is a developmental defect of the distal limbs characterized by marked clinical variability and genetic heterogeneity, also reflected in the observation of different chromosome abnormalities non randomly associated with longitudinal postaxial limb deficiencies. The one most frequently found in patients with split hand-split foot (SHSF) involves chromosome band 7q22. Recently, structural anomalies of chromosome 6q21 have been reported in 2 unrelated patients with SHSF, suggesting that this region may also contain genes responsible for limb development [Braverman et al., 1993. Am J Hum Genet, suppl 53: 410; Viljoen and Smart, 1993. Clin Dysmorph 2: 274-277]. We report on a third p…

MaleEctrodactylyEctromeliaUlnaChromosomal translocationGene mutationBiologySettore MED/03 - GENETICA MEDICATranslocation GeneticmedicineHumansLimb developmentGenetics (clinical)Chromosome 7 (human)Genetic heterogeneityInfant NewbornChromosomeAnatomymedicine.diseaseChromosome BandingChromosome BandSPLITKaryotypingChromosomes Human Pair 6Hand Deformities CongenitalChromosomes Human Pair 7Gene DeletionAmerican Journal of Medical Genetics
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