PMC Articles for MedGen (Select 1824059) - PMC - NCBI

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Items: 7

Select item 75495481.

Lacrimo‐auriculo‐dento‐digital syndrome: A novel mutation in a Korean family and review of literature

Young Hye Ryu, Jong Kyun Chae, Jung‐Wook Kim, Soyoung Lee

Mol Genet Genomic Med. 2020 Oct; 8(10): e1412. Published online 2020 Jul 26. doi: 10.1002/mgg3.1412

PMCID:: PMC7549548

Abstract Article PDF–833K

Select item 63495512.

A requirement for Fgfr2 in middle ear development

Diana Rigueur, Ryan R. Roberts, Lauren Bobzin, Amy E. Merrill

Genesis. Author manuscript; available in PMC 2020 Jan 1.

Published in final edited form as: Genesis. 2019 Jan; 57(1): e23252. Published online 2018 Oct 4. doi: 10.1002/dvg.23252

PMCID:: PMC6349551

Abstract Article PDF–4.4M

Select item 62080123.

Implementing universal Lynch syndrome screening (IMPULSS): protocol for a multi-site study to identify strategies to implement, adapt, and sustain genomic medicine programs in different organizational contexts

Alanna Kulchak Rahm, Deborah Cragun, Jessica Ezzell Hunter, Mara M. Epstein, Jan Lowery, Christine Y. Lu, Pamala A. Pawloski, Ravi N. Sharaf, Su-Ying Liang, Andrea N. Burnett-Hartman, James M. Gudgeon, Jing Hao, Susan Snyder, Radhika Gogoi, Ilene Ladd, Marc S. Williams

BMC Health Serv Res. 2018; 18: 824. Published online 2018 Oct 30. doi: 10.1186/s12913-018-3636-2

PMCID:: PMC6208012

Abstract Article PDF–1.0M

Select item 51458084.

FGF and EDA pathways control initiation and branching of distinct subsets of developing nasal glands

Alison J. May, Denis Headon, David P. Rice, Alistair Noble, Abigail S. Tucker

Dev Biol. 2016 Nov 15; 419(2): 348–356. doi: 10.1016/j.ydbio.2016.08.030

PMCID:: PMC5145808

Abstract Article

Select item 26265865.

An intronic alteration of the fibroblast growth factor 10 gene causing ALSG-(aplasia of lacrimal and salivary glands) syndrome

Kathrin Scheckenbach, Vera Balz, Martin Wagenmann, Thomas K Hoffmann

BMC Med Genet. 2008; 9: 114. Published online 2008 Dec 22. doi: 10.1186/1471-2350-9-114

PMCID:: PMC2626586

Abstract Article PDF–1.9M

Select item 21483796.

Structural basis for reduced FGFR2 activity in LADD syndrome: Implications for FGFR autoinhibition and activation

Erin D. Lew, Jae Hyun Bae, Edyta Rohmann, Bernd Wollnik, Joseph Schlessinger

Proc Natl Acad Sci U S A. 2007 Dec 11; 104(50): 19802–19807. Published online 2007 Dec 3. doi: 10.1073/pnas.0709905104

PMCID:: PMC2148379

Abstract Article PDF–987K

Select item 20992367.

Lacrimo-Auriculo-Dento-Digital Syndrome Is Caused by Reduced Activity of the Fibroblast Growth Factor 10 (FGF10)-FGF Receptor 2 Signaling Pathway

Imad Shams, Edyta Rohmann, Veraragavan P. Eswarakumar, Erin D. Lew, Satoru Yuzawa, Bernd Wollnik, Joseph Schlessinger, Irit Lax

Mol Cell Biol. 2007 Oct; 27(19): 6903–6912. Published online 2007 Aug 6. doi: 10.1128/MCB.00544-07

PMCID:: PMC2099236

Abstract Article PDF–656K

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