U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from MedGen

Items: 1 to 20 of 368

1.
Further delineation of the Yunis-Varon syndrome.
R C Hennekam, C Vermeulen-Meiners
J Med Genet. 1989 Jan; 26(1): 55–58. doi: 10.1136/jmg.26.1.55
PMCID:
PMC1015538
SummaryPage BrowsePDF–804K
2.
Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300
Deborah Bartholdi, Jeroen H Roelfsema, Francesco Papadia, Martijn H Breuning, Dunja Niedrist, Raoul C Hennekam, Albert Schinzel, Dorien J M Peters
J Med Genet. 2007 May; 44(5): 327–333. Published online 2007 Jan 12. doi: 10.1136/jmg.2006.046698
PMCID:
PMC2597984
AbstractArticlePDF–526K
3.
Thrombocytopenia-absent radius syndrome: a clinical genetic study
K Greenhalgh, R Howell, A Bottani, P Ancliff, H Brunner, C Verschuuren-Bemel..., E Vernon, K Brown, R Newbury-Ecob
J Med Genet. 2002 Dec; 39(12): 876–881. doi: 10.1136/jmg.39.12.876
PMCID:
PMC1757221
SummaryPDF–168K
4.
KBG syndrome
Francesco Brancati, Anna Sarkozy, Bruno Dallapiccola
Orphanet J Rare Dis. 2006; 1: 50. Published online 2006 Dec 12. doi: 10.1186/1750-1172-1-50
PMCID:
PMC1764006
AbstractArticlePDF–832K
5.
RDH10 is essential for synthesis of embryonic retinoic acid and is required for limb, craniofacial, and organ development
Lisa L. Sandell, Brian W. Sanderson, Gennadiy Moiseyev, Teri Johnson, Arcady Mushegian, Kendra Young, Jean-Philippe Rey, Jian-xing Ma, Karen Staehling-Hampton, Paul A. Trainor
Genes Dev. 2007 May 1; 21(9): 1113–1124. doi: 10.1101/gad.1533407
PMCID:
PMC1855236
AbstractArticlePDF–804K
6.
Canalization and developmental stability in the Brachyrrhine mouse
Katherine Elizabeth Willmore, Miriam Leah Zelditch, Nathan Young, Andrew Ah-Seng, Scott Lozanoff, Benedikt Hallgrímsson
J Anat. 2006 Mar; 208(3): 361–372. doi: 10.1111/j.1469-7580.2006.00527.x
PMCID:
PMC2100242
AbstractArticlePDF–279K
7.
Bone abnormalities in latent TGF-β binding protein (Ltbp)-3–null mice indicate a role for Ltbp-3 in modulating TGF-β bioavailability
Branka Dabovic, Yan Chen, Cristina Colarossi, Hiroto Obata, Laura Zambuto, Mary Ann Perle, Daniel B. Rifkin
J Cell Biol. 2002 Jan 21; 156(2): 227–232. doi: 10.1083/jcb.200111080
PMCID:
PMC2199217
AbstractArticlePDF–377K
8.
Cbfa1-independent decrease in osteoblast proliferation, osteopenia, and persistent embryonic eye vascularization in mice deficient in Lrp5, a Wnt coreceptor
Masaki Kato, Millan S. Patel, Regis Levasseur, Ivan Lobov, Benny H.-J. Chang, Donald A. Glass, II, Christine Hartmann, Lan Li, Tae-Ho Hwang, Cory F. Brayton, Richard A. Lang, Gerard Karsenty, Lawrence Chan
J Cell Biol. 2002 Apr 15; 157(2): 303–314. doi: 10.1083/jcb.200201089
PMCID:
PMC2199263
AbstractArticlePDF–779K
9.
Development of Craniofacial Structures in Transgenic Mice with Constitutively Active PTH/PTHrP Receptor
T. W. Tsutsui, M. Riminucci, Kenn Holmbeck, P. Bianco, P. G. Robey
Bone. Author manuscript; available in PMC 2009 Feb 1.
Published in final edited form as: Bone. 2008 Feb; 42(2): 321–331. Published online 2007 Oct 16. doi: 10.1016/j.bone.2007.09.057
PMCID:
PMC2262914
AbstractArticlePDF–2.1M
10.
Inhibition of neural crest migration underlies craniofacial dysmorphology and Hirschsprung's disease in Bardet–Biedl syndrome
Jonathan L. Tobin, Matt Di Franco, Erica Eichers, Helen May-Simera, Monica Garcia, Jiong Yan, Robyn Quinlan, Monica J. Justice, Raoul C. Hennekam, James Briscoe, Masazumi Tada, Roberto Mayor, Alan J. Burns, James R. Lupski, Peter Hammond, Philip L. Beales
Proc Natl Acad Sci U S A. 2008 May 6; 105(18): 6714–6719. Published online 2008 Apr 28. doi: 10.1073/pnas.0707057105
PMCID:
PMC2373327
AbstractArticlePDF–1.1M
11.
The effects of muscular dystrophy on the craniofacial shape of Mus musculus
Donna Carlson Jones, Miriam L Zelditch, Paula Lightfoot Peake, Rebecca Z German
J Anat. 2007 Jun; 210(6): 723–730. doi: 10.1111/j.1469-7580.2007.00730.x
PMCID:
PMC2375755
AbstractArticlePDF–187K
12.
Type I Collagen Is a Genetic Modifier of Matrix Metalloproteinase 2 in Murine Skeletal Development
Mikala Egeblad, H.-C. Jennifer Shen, Danielle J. Behonick, Lisa Wilmes, Alexandra Eichten, Lidiya V. Korets, Farrah Kheradmand, Zena Werb, Lisa M. Coussens
Dev Dyn. Author manuscript; available in PMC 2008 Nov 7.
Published in final edited form as: Dev Dyn. 2007 Jun; 236(6): 1683–1693. doi: 10.1002/dvdy.21159
PMCID:
PMC2581616
AbstractArticlePDF–1.1M
13.
Mulibrey nanism: clinical features and diagnostic criteria
N Karlberg, H Jalanko, J Perheentupa, M Lipsanen-Nyman
J Med Genet. 2004 Feb; 41(2): 92–98. doi: 10.1136/jmg.2003.014118
PMCID:
PMC1735664
SummaryPDF–354K
14.
Nevoid basal cell carcinoma syndrome (Gorlin syndrome)
Lorenzo Lo Muzio
Orphanet J Rare Dis. 2008; 3: 32. Published online 2008 Nov 25. doi: 10.1186/1750-1172-3-32
PMCID:
PMC2607262
AbstractArticlePDF–479K
15.
Targeted Inactivation of p12Cdk2ap1, CDK2 Associating Protein 1, Leads to Early Embryonic Lethality
Yong Kim, Jim McBride, Lauren Kimlin, Eung-Kwon Pae, Amit Deshpande, David T. Wong
PLoS One. 2009; 4(2): e4518. Published online 2009 Feb 20. doi: 10.1371/journal.pone.0004518
PMCID:
PMC2641017
AbstractArticlePDF–1.0M
16.
Microcephalia with mandibular and dental dysplasia in adult Zmpste24-deficient mice
F de Carlos, I Varela, A Germanà, G Montalbano, J M P Freije, J A Vega, C López-Otin, J M Cobo
J Anat. 2008 Nov; 213(5): 509–519. doi: 10.1111/j.1469-7580.2008.00970.x
PMCID:
PMC2667545
AbstractArticlePDF–3.4M
17.
Jacobsen syndrome
Teresa Mattina, Concetta Simona Perrotta, Paul Grossfeld
Orphanet J Rare Dis. 2009; 4: 9. Published online 2009 Mar 7. doi: 10.1186/1750-1172-4-9
PMCID:
PMC2670819
AbstractArticlePDF–729K
18.
Frontorhiny, a Distinctive Presentation of Frontonasal Dysplasia Caused by Recessive Mutations in the ALX3 Homeobox Gene
Stephen R.F. Twigg, Sarah L. Versnel, Gudrun Nürnberg, Melissa M. Lees, Meenakshi Bhat, Peter Hammond, Raoul C.M. Hennekam, A. Jeannette M. Hoogeboom, Jane A. Hurst, David Johnson, Alexis A. Robinson, Peter J. Scambler, Dianne Gerrelli, Peter Nürnberg, Irene M.J. Mathijssen, Andrew O.M. Wilkie
Am J Hum Genet. 2009 May 15; 84(5): 698–705. doi: 10.1016/j.ajhg.2009.04.009
PMCID:
PMC2681074
AbstractArticlePDF–1.1M
19.
Fgf8 haploinsufficiency results in distinct craniofacial defects in adult zebrafish
R. Craig Albertson, Pamela C. Yelick
Dev Biol. Author manuscript; available in PMC 2009 Jun 24.
Published in final edited form as: Dev Biol. 2007 Jun 15; 306(2): 505–515. Published online 2007 Mar 24. doi: 10.1016/j.ydbio.2007.03.025
PMCID:
PMC2701160
AbstractArticlePDF–1.5M
20.
Protein tyrosine phosphatase activity in the neural crest is essential for normal heart and skull development
Tomoki Nakamura, James Gulick, Melissa C. Colbert, Jeffrey Robbins
Proc Natl Acad Sci U S A. 2009 Jul 7; 106(27): 11270–11275. Published online 2009 Jun 18. doi: 10.1073/pnas.0902230106
PMCID:
PMC2708773
AbstractArticlePDF–2.6M

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Filter your results:

Find related data

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
You are here: NCBI > Literature > PubMed Central (PMC)
Support Center