Search Results - "Magano, L F"

Partial 7q11.23 deletions further implicate GTF2I and GTF2IRD1 as the main genes responsible for the Williams-Beuren syndrome neurocognitive profile by Antonell, A, Del Campo, M, Magano, L F, Kaufmann, L, de la Iglesia, J Martínez, Gallastegui, F, Flores, R, Schweigmann, U, Fauth, C, Kotzot, D, Pérez-Jurado, L A

“…Williams-Beuren syndrome (WBS) is a developmental disorder with multisystemic manifestations mainly characterised by vascular stenoses, distinctive…”
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Mutational Mechanisms of Williams-Beuren Syndrome Deletions by Bayés, Mònica, Magano, Luis F., Rivera, Núria, Flores, Raquel, A. Pérez Jurado, Luis

“…Williams-Beuren syndrome (WBS) is a segmental aneusomy syndrome that results from a heterozygous deletion of contiguous genes at 7q11.23. Three large…”
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Hemizygosity at the NCF1 Gene in Patients with Williams-Beuren Syndrome Decreases Their Risk of Hypertension by Del Campo, Miguel, Antonell, Anna, Magano, Luis F., Muñoz, Francisco J., Flores, Raquel, Bayés, Mònica, Pérez Jurado, Luis A.

“…Williams-Beuren syndrome (WBS), caused by a heterozygous deletion at 7q11.23, represents a model for studying hypertension, the leading risk factor for…”
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