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Items: 1 to 20 of 38

1.
A New Subtype of Brachydactyly Type B Caused by Point Mutations in the Bone Morphogenetic Protein Antagonist NOGGIN
K.  Lehmann, P.  Seemann, F.  Silan, T. O.  Goecke, S.  Irgang, K. W.  Kjaer, S.  Kjaergaard, M. J.  Mahoney, S.  Morlot, C.  Reissner, B.  Kerr, A. O. M.  Wilkie, S.  Mundlos
Am J Hum Genet. 2007 Aug; 81(2): 388–396. Published online 2007 Jun 8. doi: 10.1086/519697
PMCID:
PMC1950796
AbstractArticlePDF–445K
2.
Clinical features and molecular genetic investigation of infantile-onset ascending hereditary spastic paralysis (IAHSP) in two Chinese siblings caused by a novel splice site ALS2 variation
Qiang Zhang, Qi Yang, Jingsi Luo, Xunzhao Zhou, Shang Yi, Shuyin Tan, Zailong Qin
BMC Med Genomics. 2024; 17: 44. Published online 2024 Jan 31. doi: 10.1186/s12920-024-01805-x
PMCID:
PMC10829245
AbstractArticlePDF–1.3M
3.
Expanding the Genetic and Phenotypic Spectrum of Popliteal Pterygium Disorders
Elizabeth J. Leslie, James O'Sullivan, Michael L. Cunningham, Ankur Singh, Steven L. Goudy, Faroug Ababneh, Lamia Alsubaie, Gaik-Siew Ch'ng, Ingrid M.B.H. van der Laar, A. Jeannette M. Hoogeboom, Martine Dunnwald, Seema Kapoor, Pawina Jiramongkolchai, Jennifer Standley, J. Robert Manak, Jeffrey C. Murray, Michael J. Dixon
Am J Med Genet A. Author manuscript; available in PMC 2015 May 7.
Published in final edited form as: Am J Med Genet A. 2015 Mar; 0(3): 545–552. doi: 10.1002/ajmg.a.36896
PMCID:
PMC4423539
AbstractArticlePDF–701K
4.
A novel RIPK4–IRF6 connection is required to prevent epithelial fusions characteristic for popliteal pterygium syndromes
P De Groote, H T Tran, M Fransen, G Tanghe, C Urwyler, B De Craene, K Leurs, B Gilbert, G Van Imschoot, R De Rycke, C J Guérin, P Holland, G Berx, P Vandenabeele, S Lippens, K Vleminckx, W Declercq
Cell Death Differ. 2015 Jun; 22(6): 1012–1024. Published online 2014 Nov 28. doi: 10.1038/cdd.2014.191
PMCID:
PMC4423184
AbstractArticlePDF–5.0M
5.
Search for Genetic Modifiers of IRF6 and Genotype-Phenotype Correlations in Van der Woude and Popliteal Pterygium Syndromes
Elizabeth J. Leslie, Jennifer L. Mancuso, Brian C. Schutte, Margaret E. Cooper, Kate M. Durda, Jamie L'Heureux, Theresa M. Zucchero, Mary L. Marazita, Jeffrey C. Murray
Am J Med Genet A. Author manuscript; available in PMC 2014 Jan 22.
Published in final edited form as: Am J Med Genet A. 2013 Oct; 161(10): 2535–2544. Published online 2013 Aug 15. doi: 10.1002/ajmg.a.36133
PMCID:
PMC3898350
AbstractArticlePDF–2.0M
6.
Comparative analysis of IRF6 variants in families with Van der Woude syndrome and popliteal pterygium syndrome using public whole-exome databases
Elizabeth J. Leslie, Jennifer Standley, John Compton, Sherri Bale, Brian C. Schutte, Jeffrey C. Murray
Genet Med. 2013 May; 15(5): 338–344. Published online 2012 Nov 15. doi: 10.1038/gim.2012.141
PMCID:
PMC3723330
AbstractArticlePDF–492K
7.
Mutations in the NOG gene are commonly found in congenital stapes ankylosis with symphalangism, but not in otosclerosis
S Usami, S Abe, S Nishio, Y Sakurai, H Kojima, T Tono, N Suzuki
Clin Genet. 2012 Dec; 82(6): 514–520. Published online 2012 Jan 30. doi: 10.1111/j.1399-0004.2011.01831.x
PMCID:
PMC3532604
AbstractArticlePDF–643K
8.
Transcriptional Abnormalities of Hamstring Muscle Contractures in Children with Cerebral Palsy
Lucas R. Smith, Henry G. Chambers, Shankar Subramaniam, Richard L. Lieber
PLoS One. 2012; 7(8): e40686. Published online 2012 Aug 16. doi: 10.1371/journal.pone.0040686
PMCID:
PMC3431909
AbstractArticlePDF–1.2M
9.
Association of a single nucleotide polymorphism in growth differentiate factor 5 with congenital dysplasia of the hip: a case-control study
Jin Dai, Dongquan Shi, Pengsheng Zhu, Jianghui Qin, Haijian Ni, Yong Xu, Chen Yao, Lunqing Zhu, Hongtao Zhu, Baocheng Zhao, Jia Wei, Baorui Liu, Shiro Ikegawa, Qing Jiang, Yitao Ding
Arthritis Res Ther. 2008; 10(5): R126. Published online 2008 Oct 24. doi: 10.1186/ar2540
PMCID:
PMC2592816
AbstractArticlePDF–124K
10.
Stickler's syndrome (hereditary progressive arthro-ophthalmopathy)
James S. Popkin, Robert C. Polomeno
Can Med Assoc J. 1974 Nov 16; 111(10): 1071–1076.
PMCID:
PMC1955856
SummaryPage BrowsePDF–2.7M
11.
Vascular Remodeling Underlies Re-bleeding In Hemophilic Arthropathy
Vikas Bhat, Merissa Olmer, Shweta Joshi, Donald L Durden, Thomas J Cramer, Richard Barnes, Scott T Ball, Tudor H Hughes, Mauricio Silva, James V Luck, Randy E Moore, Laurent O Mosnier, Annette von Drygalski
Am J Hematol. Author manuscript; available in PMC 2016 Nov 1.
Published in final edited form as: Am J Hematol. 2015 Nov; 90(11): 1027–1035. Published online 2015 Oct 8. doi: 10.1002/ajh.24133
PMCID:
PMC4618067
AbstractArticlePDF–2.4M
12.
Biochemical and Genetic Analysis of ANK in Arthritis and Bone Disease
Kyle A.  Gurley, Richard J.  Reimer, David M.  Kingsley
Am J Hum Genet. 2006 Dec; 79(6): 1017–1029. Published online 2006 Oct 16. doi: 10.1086/509881
PMCID:
PMC1698704
AbstractArticlePDF–1.8M
13.
The fickle finger of fate
Luis de la Fuente, Jill A. Helms
J Clin Invest. 2005 Apr 1; 115(4): 833–836. doi: 10.1172/JCI24840
PMCID:
PMC1070437
AbstractArticlePDF–278K
14.
An inversion involving the mouse Shh locus results in brachydactyly through dysregulation of Shh expression
Michael Niedermaier, Georg C. Schwabe, Stephan Fees, Anne Helmrich, Norbert Brieske, Petra Seemann, Jochen Hecht, Volkhard Seitz, Sigmar Stricker, Gundula Leschik, Evelin Schrock, Paul B. Selby, Stefan Mundlos
J Clin Invest. 2005 Apr 1; 115(4): 900–909. doi: 10.1172/JCI200523675
PMCID:
PMC1070420
AbstractArticlePDF–1014K
15.
Spondyloepiphyseal dysplasia.
J Vanĕk
J Med Genet. 1983 Apr; 20(2): 117–121.
PMCID:
PMC1049012
SummaryPage BrowsePDF–1.3M
16.
Duplication of 16q22-->qter confirmed by fluorescence in situ hybridisation and molecular analysis.
R S Houlston, R M Renshaw, R S James, R Ironton, I K Temple
J Med Genet. 1994 Nov; 31(11): 884–887. doi: 10.1136/jmg.31.11.884
PMCID:
PMC1016665
SummaryPage BrowsePDF–904K
17.
Dominant carpotarsal osteochondromatosis.
P Maroteaux, M Le Merrer, H Bensahel, P Freisinger
J Med Genet. 1993 Aug; 30(8): 704–706. doi: 10.1136/jmg.30.8.704
PMCID:
PMC1016506
SummaryPage BrowsePDF–1.1M
18.
Family study of inherited syndrome with multiple congenital deformities: symphalangism, carpal and tarsal fusion, brachydactyly, craniosynostosis, strabismus, hip osteochondritis.
V Ventruto, R Di Girlamo, B Festa, A Romano, G Sebastio, L Sebastio
J Med Genet. 1976 Oct; 13(5): 394–398. doi: 10.1136/jmg.13.5.394
PMCID:
PMC1013446
SummaryPage BrowsePDF–1.5M
19.
Pfeiffer syndrome: report of a family and review of the literature.
Y Naveh, A Friedman
J Med Genet. 1976 Aug; 13(4): 277–280. doi: 10.1136/jmg.13.4.277
PMCID:
PMC1013415
SummaryPage BrowsePDF–1.0M
20.
Influence of genetic factors in elbow tendon pathology: a case-control study
Yasser Alakhdar Mohmara, Jill Cook, Josep C. Benítez-Martínez, Emily R. McPeek, Antonio Alberola Aguilar, Emilio Soria Olivas, Sergio Hernandez-Sanchez
Sci Rep. 2020; 10: 6503. Published online 2020 Apr 16. doi: 10.1038/s41598-020-63030-7
PMCID:
PMC7162873
AbstractArticlePDF–896K

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