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1por Reis, Patricia MP, Faber, Jorge, Rosa, Jéssica SO, Bueno, Mike, Barriviera, Maurício, Lia, Érica N“…Hartsfield syndrome is a rare and unique clinical combination of ectrodactyly and holoprosencephaly (HPE) with or without cleft lip and palate, as well as various additional characteristics. …”
Publicado 2023
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2por Simonis, Nicolas, Migeotte, Isabelle, Lambert, Nelle, Perazzolo, Camille, de Silva, Deepthi C, Dimitrov, Boyan, Heinrichs, Claudine, Janssens, Sandra, Kerr, Bronwyn, Mortier, Geert, Van Vliet, Guy, Lepage, Philippe, Casimir, Georges, Abramowicz, Marc, Smits, Guillaume, Vilain, Catheline“…Although several causal genes of HPE and ectrodactyly have been identified, the genetic cause of Hartsfield syndrome remains unknown. We hypothesised that a single key developmental gene may underlie the co-occurrence of HPE and ectrodactyly. …”
Publicado 2013
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3Novel heterozygous mutation in the extracellular domain of FGFR1 associated with Hartsfield syndromepor Takagi, Masaki, Miyoshi, Tatsuya, Nagashima, Yuka, Shibata, Nao, Yagi, Hiroko, Fukuzawa, Ryuji, Hasegawa, Tomonobu“…Heterozygous kinase domain mutations or homozygous extracellular domain mutations in FGFR1 have been reported to cause Hartsfield syndrome (HS), which is characterized by the triad of holoprosencephaly, ectrodactyly and cleft lip/palate. …”
Publicado 2016
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4por Kobayashi, Sachiko, Tanigawa, Junpei, Kondo, Hidehito, Nabatame, Shin, Maruoka, Azusa, Sho, Hiroyuki, Tanikawa, Kazuko, Inui, Ryoko, Otsuki, Michio, Shimomura, Iichiro, Ozono, Keiichi, Hashimoto, Kunihiko“…Hartsfield syndrome (HS: OMIM 615465) is a rare congenital disease associated with a mutation of the fibroblast growth factor receptor 1 gene (FGFR1) with the main features of holoprosencephaly and ectrodactyly. …”
Publicado 2020
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6por Passantino, Giuseppe, Tursi, Massimiliano, Vercelli, Cristina, Filippi, Ilaria, Decaro, Nicola, Tinelli, Antonella, Valente, Luciana, Leone, Rosa, Zizzo, Nicola“…SIMPLE SUMMARY: Sciurus vulgaris has been considered by the International Union for Conservation of Nature (IUCN) due to the risk of extinction caused by the invasion of the invasive species (IAS) such as Callosciurus finlaysonii Horsfield, 1823. This species originated from Southeast Asia and it was introduced in Italy, in 1980. …”
Publicado 2020
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