Search Results - "Pangalos, Constantinos G"

A familial case of Muenke syndrome. Diverse expressivity of the FGFR3 Pro252Arg mutation - case report and review of the literature by Aravidis, Christos, Konialis, Christopher P., Pangalos, Constantinos G., Kosmaidou, Zoi

“…Abstract Muenke is a fibroblast growth factor receptor 3 (FGFR-3)-associated syndrome, which was first described in late 1990s. Muenke syndrome is an autosomal…”
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Birth of a healthy histocompatible sibling following preimplantation genetic diagnosis for chronic granulomatous disease at the blastocyst stage coupled to HLA typing by Pangalos, Constantinos G, Hagnefelt, Birgitta, Kokkali, Georgia, Pantos, Konstantinos, Konialis, Christopher P

“…To perform preimplantation genetic diagnosis (PGD) for chronic granulomatous disease with simultaneous HLA typing in a family case with an affected male child,…”
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Successful Hematopoietic Stem Cell Transplantation in 2 Children with X-Linked Chronic Granulomatous Disease from Their Unaffected HLA-Identical Siblings Selected Using Preimplantation Genetic Diagnosis Combined with HLA Typing by Goussetis, Evgenios, Konialis, Christopher P, Peristeri, Ioulia, Kitra, Vasiliki, Dimopoulou, Maria, Petropoulou, Theoni, Vessalas, George, Papassavas, Andreas, Tzanoudaki, Marianna, Kokkali, Georgia, Petrakou, Eftychia, Spiropoulos, Antonia, Pangalos, Constantinos G, Pantos, Konstantinos, Graphakos, Stelios

“…We report 2 children with X-linked chronic granulomatous disease (X-CGD) who underwent hematopoietic stem cell transplantation (HSCT) using grafts from their…”
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A familial case of Muenke syndrome. Diverse expressivity of the FGFR3 Pro252Arg mutation - case report and review of the literature by Aravidis, Christos, Konialis, Christopher P., Pangalos, Constantinos G., Kosmaidou, Zoi

“…Muenke is a fibroblast growth factor receptor 3 (FGFR-3)-associated syndrome, which was first described in late 1990s. Muenke syndrome is an autosomal dominant…”
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DNA polymorphism analysis in families with recurrence of free trisomy 21 by PANGALOS, C. G, CONOVER TALBOT, C. JR, BINKERT, F, BOUE, J, CORBIN, E, CROQUETTE, M. F, GILGENKRANTZ, S, DE GROUCHY, J, BERTHEAS, M. F, PRIEUR, M, RAOUL, O, SERVILLE, F, LEWIS, J. G, SIFFROI, J. P, THEPOT, F, LEJEUNE, J, ANTONARAKIS, S. E, ADELSBERGER, F. A, PETERSEN, M. B, SERRE, J.-L, RETHORE, M.-O, DE BLOIS, M.-C, PARENT, P, SCHINZEL, A. A

“…We used DNA polymorphic markers on the long arm of human chromosome 21 in order to determine the parental and meiotic origin of the extra chromosome 21 in…”
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