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Joan T Richtsmeier Selected Research

Acrocephalosyndactylia (Apert Syndrome)

1/2019Nonsyndromic craniosynostosis: novel coding variants.
1/2018Choanal Atresia and Craniosynostosis: Development and Disease.
1/2017Integration of Brain and Skull in Prenatal Mouse Models of Apert and Crouzon Syndromes.
6/2014Morphological comparison of the craniofacial phenotypes of mouse models expressing the Apert FGFR2 S252W mutation in neural crest- or mesoderm-derived tissues.
2/2014Craniofacial divergence by distinct prenatal growth patterns in Fgfr2 mutant mice.
5/2013From shape to cells: mouse models reveal mechanisms altering palate development in Apert syndrome.
11/2010Beyond the closed suture in apert syndrome mouse models: evidence of primary effects of FGFR2 signaling on facial shape at birth.
3/2010Brain phenotypes in two FGFR2 mouse models for Apert syndrome.
2/2010Activation of p38 MAPK pathway in the skull abnormalities of Apert syndrome Fgfr2(+P253R) mice.

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Joan T Richtsmeier Research Topics

Disease

17Craniosynostoses (Craniosynostosis)
01/2019 - 07/2002
9Acrocephalosyndactylia (Apert Syndrome)
01/2019 - 02/2010
3Congenital Abnormalities (Deformity)
01/2019 - 08/2010
3Synostosis
09/2014 - 02/2010
2Craniofacial Dysostosis (Crouzon Disease)
01/2022 - 01/2013
2Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders)
05/2013 - 11/2010
1Malocclusion (Crossbite)
01/2022
1Choanal Atresia
01/2018
1Achondroplasia
01/2013
1Skin Abnormalities
06/2012
1Plagiocephaly
03/2012

Drug/Important Bio-Agent (IBA)

7Type 2 Fibroblast Growth Factor Receptor (Fibroblast Growth Factor Receptor 2)IBA
01/2022 - 11/2010
4Fibroblast Growth Factor Receptors (Fibroblast Growth Factor Receptor)IBA
01/2017 - 03/2010
2Amino AcidsFDA Link
01/2022 - 02/2014
2Fibroblast Growth Factors (Fibroblast Growth Factor)IBA
02/2014 - 01/2013
1Cysteine (L-Cysteine)FDA Link
01/2022
1Tyrosine (L-Tyrosine)FDA Link
01/2022
1Ephrin-B1 (Ephrin B1)IBA
01/2019
1DNA (Deoxyribonucleic Acid)IBA
03/2016
1ElementsIBA
11/2014
1Phosphotransferases (Kinase)IBA
06/2012
1p38 Mitogen-Activated Protein KinasesIBA
02/2010
1Immunoglobulin G (IgG)IBA
11/2008
1Transforming Growth Factor beta (TGF-beta)IBA
11/2008

Therapy/Procedure

17Sutures (Suture)
01/2022 - 07/2002