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Items: 1 to 20 of 62

1.
The Aarskog-Scott Syndrome Protein Fgd1 Regulates Podosome Formation and Extracellular Matrix Remodeling in Transforming Growth Factor β-Stimulated Aortic Endothelial Cells
Thomas Daubon, Roberto Buccione, Elisabeth Génot
Mol Cell Biol. 2011 Nov; 31(22): 4430–4441. doi: 10.1128/MCB.05474-11
PMCID:
PMC3209245
AbstractArticlePDF–5.4M
2.
Clinical value of vestibulo-ocular reflex in the differentiation of spinocerebellar ataxias
Jae-Myung Kim, Tai-Seung Nam, Seong-Min Choi, Byeong C. Kim, Seung-Han Lee
Sci Rep. 2023; 13: 14783. Published online 2023 Sep 7. doi: 10.1038/s41598-023-41924-6
PMCID:
PMC10485070
AbstractArticlePDF–1.2M
3.
Pulmonary Hypertension in Patients with 9q34.3 microdeletion-associated Kleefstra Syndrome
Volkan Okur, Shannon Nees, Wendy K. Chung, Usha Krishnan
Am J Med Genet A. Author manuscript; available in PMC 2019 Aug 1.
Published in final edited form as: Am J Med Genet A. 2018 Aug; 176(8): 1773–1777. Published online 2018 Jul 31. doi: 10.1002/ajmg.a.38852
PMCID:
PMC6107394
AbstractArticlePDF–59K
4.
FLNA mutations in surviving males presenting with connective tissue findings: two new case reports and review of the literature
Elyssa Cannaerts, Anju Shukla, Mensuda Hasanhodzic, Maaike Alaerts, Dorien Schepers, Lut Van Laer, Katta M. Girisha, Iva Hojsak, Bart Loeys, Aline Verstraeten
BMC Med Genet. 2018; 19: 140. Published online 2018 Aug 8. doi: 10.1186/s12881-018-0655-0
PMCID:
PMC6083619
AbstractArticlePDF–5.9M
5.
Truncated C-terminus of fibrillin-1 induces Marfanoid-progeroid-lipodystrophy (MPL) syndrome in rabbit
Mao Chen, Bing Yao, Qiangbing Yang, Jichao Deng, Yuning Song, Tingting Sui, Lina Zhou, HaoBing Yao, Yuanyuan Xu, Hongsheng Ouyang, Daxin Pang, Zhanjun Li, Liangxue Lai
Dis Model Mech. 2018 Apr 1; 11(4): dmm031542. Published online 2018 Apr 9. doi: 10.1242/dmm.031542
PMCID:
PMC5963856
AbstractArticle
6.
Loss of lysyl oxidase-like 3 causes cleft palate and spinal deformity in mice
Jian Zhang, Rui Yang, Ziyi Liu, Congzhe Hou, Wen Zong, Aizhen Zhang, Xiaoyang Sun, Jiangang Gao
Hum Mol Genet. 2015 Nov 1; 24(21): 6174–6185. Published online 2015 Aug 24. doi: 10.1093/hmg/ddv333
PMCID:
PMC4599675
AbstractArticlePDF–2.2M
7.
Redefining the MED13L syndrome
Abidemi Adegbola, Luciana Musante, Bert Callewaert, Patricia Maciel, Hao Hu, Bertrand Isidor, Sylvie Picker-Minh, Cedric Le Caignec, Barbara Delle Chiaie, Olivier Vanakker, Björn Menten, Annelies Dheedene, Nele Bockaert, Filip Roelens, Karin Decaestecker, João Silva, Gabriela Soares, Fátima Lopes, Hossein Najmabadi, Kimia Kahrizi, Gerald F Cox, Steven P Angus, John F Staropoli, Ute Fischer, Vanessa Suckow, Oliver Bartsch, Andrew Chess, Hans-Hilger Ropers, Thomas F Wienker, Christoph Hübner, Angela M Kaindl, Vera M Kalscheuer
Eur J Hum Genet. 2015 Oct; 23(10): 1308–1317. Published online 2015 Mar 11. doi: 10.1038/ejhg.2015.26
PMCID:
PMC4592099
AbstractArticlePDF–735K
8.
Further confirmation of the MED13L haploinsufficiency syndrome
Mieke M van Haelst, Glen R Monroe, Karen Duran, Ellen van Binsbergen, Johannes M Breur, Jacques C Giltay, Gijs van Haaften
Eur J Hum Genet. 2015 Jan; 23(1): 135–138. Published online 2014 Apr 30. doi: 10.1038/ejhg.2014.69
PMCID:
PMC4266749
AbstractArticlePDF–430K
9.
Myhre and LAPS syndromes: clinical and molecular review of 32 patients
Caroline Michot, Carine Le Goff, Clémentine Mahaut, Alexandra Afenjar, Alice S Brooks, Philippe M Campeau, Anne Destree, Maja Di Rocco, Dian Donnai, Raoul Hennekam, Delphine Heron, Sébastien Jacquemont, Peter Kannu, Angela E Lin, Sylvie Manouvrier-Hanu, Sahar Mansour, Sandrine Marlin, Ruth McGowan, Helen Murphy, Annick Raas-Rothschild, Marlène Rio, Marleen Simon, Irene Stolte-Dijkstra, James R Stone, Yves Sznajer, John Tolmie, Renaud Touraine, Jenneke van den Ende, Nathalie Van der Aa, Ton van Essen, Alain Verloes, Arnold Munnich, Valérie Cormier-Daire
Eur J Hum Genet. 2014 Nov; 22(11): 1272–1277. Published online 2014 Jan 15. doi: 10.1038/ejhg.2013.288
Correction in:
Eur J Hum Genet. 2014 Nov; 22(11): 1340.
PMCID:
PMC4200423
AbstractArticlePDF–937K
10.
Three Patients With Oculo-Auriculo-Vertebral Spectrum and Microdeletion 22q11.2
M. Cristina Digilio, Donna M. McDonald-McGinn, Carrie Heike, Charles Catania, Bruno Dallapiccola, Bruno Marino, Elaine H. Zackai
Am J Med Genet A. Author manuscript; available in PMC 2014 Aug 20.
Published in final edited form as: Am J Med Genet A. 2009 Dec; 0(12): 2860–2864. doi: 10.1002/ajmg.a.33034
PMCID:
PMC4138507
AbstractArticlePDF–117K
11.
Copy Number Variation analysis in 98 individuals with PHACE syndrome
DH Siegel, JTC Shieh, EK Kwon, E Baselga, F Blei, M Cordisco, WB Dobyns, K Duffy, MC Garzon, DL Gibbs, JF Grimmer, SJ Hayflick, AL Krol, PY Kwok, R Lorier, A Matter, S McWeeney, D Metry, S Mitchell, E Pope, J Santoro, DA Stevenson, PB Toydemir, B Wilmot, E Worthey, IJ Frieden, BA Drolet, U Broeckel
J Invest Dermatol. Author manuscript; available in PMC 2014 Apr 1.
Published in final edited form as: J Invest Dermatol. 2013 Mar; 133(3): 677–684. Published online 2012 Oct 25. doi: 10.1038/jid.2012.367
PMCID:
PMC3971866
AbstractArticlePDF–938K
12.
Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability
Reza Asadollahi, Beatrice Oneda, Frenny Sheth, Silvia Azzarello-Burri, Rosa Baldinger, Pascal Joset, Beatrice Latal, Walter Knirsch, Soaham Desai, Alessandra Baumer, Gunnar Houge, Joris Andrieux, Anita Rauch
Eur J Hum Genet. 2013 Oct; 21(10): 1100–1104. Published online 2013 Feb 13. doi: 10.1038/ejhg.2013.17
PMCID:
PMC3778355
AbstractArticlePDF–661K
13.
Chromosome 18q-Syndrome and 1p terminal duplication in a patient with bilateral vesico-ureteral reflux: case report and literature revision
Elisa Brandigi, Francesco Molinaro, Anna Lavinia Bulotta, Rossella Angotti, Maria Pavone, Mario Messina
Ital J Pediatr. 2013; 39: 6. Published online 2013 Jan 23. doi: 10.1186/1824-7288-39-6
PMCID:
PMC3599261
AbstractArticlePDF–467K
14.
A developmental defect in astrocytes inhibits programmed regression of the hyaloid vasculature in the mammalian eye
Cheng Zhang, Laura Asnaghi, Celine Gongora, Bonnie Patek, Stacey Hose, Bo Ma, Masoud Aghsaei Fard, Lawrence Brako, Kamaljeet Singh, Morton F. Goldberg, James T. Handa, Woo-Kuen Lo, Charles G. Eberhart, J. Samuel Zigler, Jr., Debasish Sinha
Eur J Cell Biol. Author manuscript; available in PMC 2012 Oct 24.
Published in final edited form as: Eur J Cell Biol. 2011 May; 90(5): 440–448. Published online 2011 Feb 26. doi: 10.1016/j.ejcb.2011.01.003
PMCID:
PMC3480019
AbstractArticlePDF–1.5M
15.
Mosaic Ring Chromosome 6 in an Infant with Significant Patent Ductus Arteriosus and Multiple Congenital Anomalies
Seung Jae Lee, Dong Kyun Han, Hwa Jin Cho, Young Kuk Cho, Jae Sook Ma
J Korean Med Sci. 2012 Aug; 27(8): 948–952. Published online 2012 Jul 25. doi: 10.3346/jkms.2012.27.8.948
PMCID:
PMC3410245
AbstractArticlePDF–927K
16.
Prenatal diagnosis and implications of microphthalmia and anophthalmia with a review of current ultrasound guidelines: two case reports
A. Searle, P. Shetty, S. J. Melov, T. I. Alahakoon
J Med Case Rep. 2018; 12: 250. Published online 2018 Aug 29. doi: 10.1186/s13256-018-1746-4
PMCID:
PMC6114735
AbstractArticlePDF–3.8M
17.
Loss of BRCC3 Deubiquitinating Enzyme Leads to Abnormal Angiogenesis and Is Associated with Syndromic Moyamoya
Snaigune Miskinyte, Matthew G. Butler, Dominique Hervé, Catherine Sarret, Marc Nicolino, Jacob D. Petralia, Francoise Bergametti, Minh Arnould, Van N. Pham, Aniket V. Gore, Konstantinos Spengos, Steven Gazal, France Woimant, Gary K. Steinberg, Brant M. Weinstein, Elisabeth Tournier-Lasserve
Am J Hum Genet. 2011 Jun 10; 88(6): 718–728. doi: 10.1016/j.ajhg.2011.04.017
PMCID:
PMC3113251
AbstractArticlePDF–1.0M
18.
HOXA1 mutations are not a common cause of Möbius syndrome
Jessica K. Rankin, Caroline Andrews, Wai-Man Chan, Elizabeth C. Engle
J AAPOS. Author manuscript; available in PMC 2010 Aug 1.
Published in final edited form as: J AAPOS. 2010 Feb; 14(1): 78–80. doi: 10.1016/j.jaapos.2009.11.007
PMCID:
PMC2862693
AbstractArticlePDF–28K
19.
Neural crest cell-specific deletion of Rac1 results in defective cell-matrix interactions and severe craniofacial and cardiovascular malformations
Penny S. Thomas, Jieun Kim, Stephanie Nunez, Michael Glogauer, Vesa Kaartinen
Dev Biol. Author manuscript; available in PMC 2011 Apr 15.
Published in final edited form as: Dev Biol. 2010 Apr 15; 340(2): 613–625. Published online 2010 Feb 23. doi: 10.1016/j.ydbio.2010.02.021
PMCID:
PMC2854286
AbstractArticlePDF–7.6M
20.
Loeys-Dietz syndrome type I and type II: clinical findings and novel mutations in two Italian patients
Bruno Drera, Marco Ritelli, Nicoletta Zoppi, Anita Wischmeijer, Maria Gnoli, Rossella Fattori, Pier Giacomo Calzavara-Pinton, Sergio Barlati, Marina Colombi
Orphanet J Rare Dis. 2009; 4: 24. Published online 2009 Nov 2. doi: 10.1186/1750-1172-4-24
PMCID:
PMC2774663
AbstractArticlePDF–599K

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