Search Results - "Albano, L M J"

Angiokeratoma: a cutaneous marker of Fabry's disease by Albano, L. M. J., Rivitti, C., Bertola, D. R., Honjo, R. S., Kelmann, S. V., Giugliani, R., Kim, C. A.

“…Summary The initial symptoms of Fabry’s disease (FD) may seem harmless and may delay its diagnosis. A survey and screening for FD were performed on men with…”
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Brachyolmia with amelogenesis imperfecta: Further evidence of a distinct entity by Bertola, D.R., Antequera, R., Rodovalho, M.J., Honjo, R.S., Albano, L.M.J., Furquim, I.M., Oliveira, L.A., Kim, C.A.

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CHILD syndrome caused by a deletion of exons 6-8 of the NSDHL gene by Kim, C A, Konig, A, Bertola, D R, Albano, L M J, Gattás, G J F, Bornholdt, D, Leveleki, L, Happle, R, Grzeschik, K-H

“…The X-linked dominant CHILD syndrome (congenital hemidysplasia with ichthyosiform nevus and limb defects) is a rare developmental defect characterized by a…”
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AEC Syndrome and CHAND Syndrome: Further Evidence of Clinical Overlapping in the Ectodermal Dysplasias by Bertola, D. R., Kim, C. A., Sugayama, S. M. M., Albano, L. M. J., Utagawa, C. Y., Gonzalez, C. H.

“…: Among the ectodermal dysplasias, there are several examples of overlapping phenotypes in disorders that are considered distinct. We report a 5‐year‐old boy…”
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Angiokeratoma: a cutaneous marker of Fabry’s disease: Angiokeratoma: a cutaneous marker of FD by Albano, L. M. J., Rivitti, C., Bertola, D. R., Honjo, R. S., Kelmann, S. V., Giugliani, R., Kim, C. A.

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Molecular evidence that AEC syndrome and Rapp-Hodgkin syndrome are variable expression of a single genetic disorder by Bertola, DR, Kim, CA, Albano, LMJ, Scheffer, H, Meijer, R, Van Bokhoven, H

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Assessment of Intellectual and Visuo-Spatial Abilities in Children and Adults with Williams Syndrome by Mika, Michele Moreira, Nunes, M., Honjo, R. S., Dutra, R. L., Amaral, V., Oh, H. K., Bertola, D. R., Albano, L. M. J., Assumpção Júnior, F. B., Teixeira, Maria Cristina, Kim, C. A.

“…The Williams-Beuren syndrome (SWB), also known as Williams syndrome, is a contiguous gene deletion of the region 7q.11.23. The main clinical characteristics…”
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Assessment of Intellectual and Visuo- Spatial Abilities in Children and Adults with Williams Syndrome by Michele Moreira Mika, Nunes, M, Honjo, R S, Dutra, R L, Amaral, V, Oh, H K, Bertola, D R, Albano, L M J, Assumpção Júnior, F B, Teixeira, Maria Cristina, Kim, C A

“…El síndrome de Williams-Beuren (SWB), también conocido como síndrome de Williams, es un síndrome de deleción de genes contiguos de la región 7q.11.23. Se…”
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AEC Syndrome and CHAND Syndrome: Further Evidence of Clinical Overlapping in the Ectodermal Dysplasias by Bertola, D. R., Kim, C. A., Sugayama, S. M. M., Albano, L. M. J., Utagawa, C. Y., Gonzalez, C. H.

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