Search Results - "Wakeling, E.L."

Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families by Callewaert, B.L, Willaert, A, Kerstjens-Frederikse, W.S, De Backer, J, Devriendt, K, Albrecht, B, Ramos-Arroyo, M.A, Doco-Fenzy, M, Hennekam, R.C.M, Pyeritz, R.E, Krogmann, O.N, Gillessen-kaesbach, G, Wakeling, E.L, Nik-zainal, S, Francannet, C, Mauran, P, Booth, C, Barrow, M, Dekens, R, Loeys, B.L, Coucke, P.J, De Paepe, A.M

“…Arterial tortuosity syndrome (ATS) is a rare autosomal recessive connective tissue disease, characterized by widespread arterial involvement with elongation,…”
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Bone health and SATB2‐associated syndrome by Zarate, Y.A., Steinraths, M., Matthews, A., Smith, W.E., Sun, A., Wilson, L.C., Brain, C., Allgove, J., Jacobs, B., Fish, J.L., Powell, C.M., Wasserman, W.W., van Karnebeek, C.D., Wakeling, E.L., Ma, N.S.

“…SATB2‐associated syndrome (SAS) is a rare disorder caused by alterations in the special AT‐rich sequence‐binding protein 2 (SATB2). Skeletal abnormalities such…”
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Richieri‐Costa‐Pereira syndrome: Expanding its phenotypic and genotypic spectrum by Bertola, D.R., Hsia, G., Alvizi, L., Gardham, A., Wakeling, E.L., Yamamoto, G.L., Honjo, R.S., Oliveira, L.A.N., Di Francesco, R.C., Perez, B.A., Kim, C.A., Passos‐Bueno, M.R.

“…Richieri‐Costa‐Pereira syndrome is a rare autosomal recessive acrofacial dysostosis that has been mainly described in Brazilian individuals. The cardinal…”
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Genetics of Silver-Russell syndrome by Wakeling, E L, Abu-Amero, S, Price, S M, Stanier, P, Trembath, R C, Moore, G E, Preece, M A

“…The Silver-Russell syndrome (SRS) is generally sporadic, but with sufficient reported cases of dominant and recessive patterns of inheritance to suggest a…”
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