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Items: 8

1.
Phenotype and Surgical Treatment in a Case of Proteus Syndrome With Craniofacial and Oral Findings
E. REINHARD
In Vivo. 2021 May-Jun; 35(3): 1583–1594. Published online 2021 May 3. doi: 10.21873/invivo.12415
PMCID:
PMC8193322
AbstractArticlePDF–5.1M
2.
Novel phenotypes and genotypes in Antley-Bixler syndrome caused by cytochrome P450 oxidoreductase deficiency: based on the first cohort of Chinese children
Lijun Fan, Xiaoya Ren, Yanning Song, Chang Su, Junfen Fu, Chunxiu Gong
Orphanet J Rare Dis. 2019; 14: 299. Published online 2019 Dec 30. doi: 10.1186/s13023-019-1283-2
PMCID:
PMC6937861
AbstractArticlePDF–5.6M
3.
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
AbstractArticle
4.
Craniofacial and Dental Development in Costello Syndrome
Alice F. Goodwin, Snehlata Oberoi, Maya Landan, Cyril Charles, Jessica C. Massie, Cecilia Fairley, Katherine A. Rauen, Ophir D. Klein
Am J Med Genet A. Author manuscript; available in PMC 2015 Jun 1.
Published in final edited form as: Am J Med Genet A. 2014 Jun; 0(6): 1425–1430. Published online 2014 Mar 25. doi: 10.1002/ajmg.a.36475
PMCID:
PMC4115793
AbstractArticlePDF–662K
5.
Calcium influx through L-type CaV1.2 Ca2+ channels regulates mandibular development
Kapil V. Ramachandran, Jessica A. Hennessey, Adam S. Barnett, Xinhe Yin, Harriett A. Stadt, Erika Foster, Raj A. Shah, Masayuki Yazawa, Ricardo E. Dolmetsch, Margaret L. Kirby, Geoffrey S. Pitt
J Clin Invest. 2013 Apr 1; 123(4): 1638–1646. Published online 2013 Mar 15. doi: 10.1172/JCI66903
PMCID:
PMC3613930
AbstractArticlePDF–3.5M
6.
Activated Kras Alters Epidermal Homeostasis of Mouse Skin, Resulting in Redundant Skin and Defective Hair Cycling
Anandaroop Mukhopadhyay, Suguna R. Krishnaswami, Benjamin D.-Y. Yu
J Invest Dermatol. Author manuscript; available in PMC 2012 Apr 24.
Published in final edited form as: J Invest Dermatol. 2011 Feb; 131(2): 311–319. Published online 2010 Oct 14. doi: 10.1038/jid.2010.296
PMCID:
PMC3335744
AbstractArticlePDF–3.4M
7.
Homozygous frameshift mutation in TMCO1 causes a syndrome with craniofacial dysmorphism, skeletal anomalies, and mental retardation
Baozhong Xin, Erik G. Puffenberger, Susan Turben, Haiyan Tan, Aimin Zhou, Heng Wang
Proc Natl Acad Sci U S A. 2010 Jan 5; 107(1): 258–263. Published online 2009 Dec 29. doi: 10.1073/pnas.0908457107
PMCID:
PMC2806776
AbstractArticlePDF–1.0M
8.
Mouse H6 Homeobox 1 (Hmx1) mutations cause cranial abnormalities and reduced body mass
Robert J Munroe, Vinay Prabhu, Greg M Acland, Kenneth R Johnson, Belinda S Harris, Tim P O'Brien, Ian C Welsh, Drew M Noden, John C Schimenti
BMC Dev Biol. 2009; 9: 27. Published online 2009 Apr 20. doi: 10.1186/1471-213X-9-27
PMCID:
PMC2676275
AbstractArticlePDF–752K

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