PMC Articles for MedGen (Select 441188) - PMC

Select item 67776331.

A novel dominant-negative FGFR1 variant causes Hartsfield syndrome by deregulating RAS/ERK1/2 pathway

Pietro Palumbo, Antonio Petracca, Roberto Maggi, Tommaso Biagini, Grazia Nardella, Michele Carmine Sacco, Elia Di Schiavi, Massimo Carella, Lucia Micale, Marco Castori

Eur J Hum Genet. 2019 Jul; 27(7): 1113–1120. Published online 2019 Feb 20. doi: 10.1038/s41431-019-0350-4

PMCID:: PMC6777633

Article PDF–1.1M

Select item 56138872.

The Use of Variant Maps to Explore Domain-Specific Mutations of FGFR1

L.A. Lansdon, H.V. Bernabe, N. Nidey, J. Standley, M.J. Schnieders, J.C. Murray

J Dent Res. 2017 Oct; 96(11): 1339–1345. Published online 2017 Aug 21. doi: 10.1177/0022034517726496

PMCID:: PMC5613887

Article PDF–670K

Select item 50625823.

Dominant-negative kinase domain mutations in FGFR1 can explain the clinical severity of Hartsfield syndrome

Sungkook Hong, Ping Hu, Juliana Marino, Sophia B. Hufnagel, Robert J. Hopkin, Alma Toromanović, Antonio Richieri-Costa, Lucilene A. Ribeiro-Bicudo, Paul Kruszka, Erich Roessler, Maximilian Muenke

Hum Mol Genet. 2016 May 15; 25(10): 1912–1922. Published online 2016 Feb 29. doi: 10.1093/hmg/ddw064

PMCID:: PMC5062582

Article PDF–804K

Select item 37564554.

FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly

Nicolas Simonis, Isabelle Migeotte, Nelle Lambert, Camille Perazzolo, Deepthi C de Silva, Boyan Dimitrov, Claudine Heinrichs, Sandra Janssens, Bronwyn Kerr, Geert Mortier, Guy Van Vliet, Philippe Lepage, Georges Casimir, Marc Abramowicz, Guillaume Smits, Catheline Vilain

J Med Genet. 2013 Sep; 50(9): 585–592. Published online 2013 Jun 28. doi: 10.1136/jmedgenet-2013-101603

PMCID:: PMC3756455

Article PDF–2.0M

Select item 28149445.

Holoprosencephaly and Ectrodactyly: Report of Three New Cases and Review

Amelia A. Keaton, Benjamin D. Solomon, Anthonie J. van Essen, Kathleen M. Pfleghaar, Michael A. Slama, Judith A. Martin, Maximilian Muenke

Am J Med Genet C Semin Med Genet. Author manuscript; available in PMC 2011 Feb 15.

Published in final edited form as: Am J Med Genet C Semin Med Genet. 2010 Feb 15; 154C(1): 170–175. doi: 10.1002/ajmg.c.30251

PMCID:: PMC2814944

Article PDF–310K

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