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Items: 1 to 20 of 500

1.
A Novel ZRS Mutation in a Balochi Tribal Family with Triphalangeal Thumb, Pre-axial Polydactyly, Postaxial Polydactyly and Syndactyly
Julia E VanderMeer, Muhammad Afzal, Saadia Alyas, Sayedul Haque, Nadav Ahituv, Sajid Malik
Am J Med Genet A. Author manuscript; available in PMC 2013 Aug 1.
Published in final edited form as: Am J Med Genet A. 2012 Aug; 158A(8): 2031–2035. Published online 2012 Jul 11. doi: 10.1002/ajmg.a.35473
PMCID:
PMC3402602
AbstractArticlePDF–1.6M
2.
Bardet-Biedl syndrome 3 (Bbs3) knockout mouse model reveals common BBS-associated phenotypes and Bbs3 unique phenotypes
Qihong Zhang, Darryl Nishimura, Seongjin Seo, Tim Vogel, Donald A. Morgan, Charles Searby, Kevin Bugge, Edwin M. Stone, Kamal Rahmouni, Val C. Sheffield
Proc Natl Acad Sci U S A. 2011 Dec 20; 108(51): 20678–20683. Published online 2011 Dec 2. doi: 10.1073/pnas.1113220108
PMCID:
PMC3251145
AbstractArticlePDF–1.2M
3.
Mutations in C8orf37, Encoding a Ciliary Protein, are Associated with Autosomal-Recessive Retinal Dystrophies with Early Macular Involvement
Alejandro Estrada-Cuzcano, Kornelia Neveling, Susanne Kohl, Eyal Banin, Ygal Rotenstreich, Dror Sharon, Tzipora C. Falik-Zaccai, Stephanie Hipp, Ronald Roepman, Bernd Wissinger, Stef J.F. Letteboer, Dorus A. Mans, Ellen A.W. Blokland, Michael P. Kwint, Sabine J. Gijsen, Ramon A.C. van Huet, Rob W.J. Collin, H. Scheffer, Joris A. Veltman, Eberhart Zrenner, the European Retinal Disease Consortium, Anneke I. den Hollander, B. Jeroen Klevering, Frans P.M. Cremers
Am J Hum Genet. 2012 Jan 13; 90(1): 102–109. doi: 10.1016/j.ajhg.2011.11.015
PMCID:
PMC3257957
AbstractArticlePDF–867K
4.
Pleiotropic patterning response to activation of Shh signaling in the limb Apical Ectodermal Ridge
Chi-Kuang Leo Wang, Mizuyo H. Tsugane, Victoria Scranton, Robert A. Kosher, Louis J. Pierro, William B. Upholt, Caroline N. Dealy
Dev Dyn. Author manuscript; available in PMC 2012 May 1.
Published in final edited form as: Dev Dyn. 2011 May; 240(5): 1289–1302. Published online 2011 Apr 4. doi: 10.1002/dvdy.22628
PMCID:
PMC3273424
AbstractArticlePDF–2.1M
5.
Clinical and Genetic Epidemiology of Bardet–Biedl Syndrome in Newfoundland: A 22-Year Prospective, Population-Based, Cohort Study
Susan J. Moore, Jane S. Green, Yanli Fan, Ashvinder K. Bhogal, Elizabeth Dicks, Bridget A. Fernandez, Mark Stefanelli, Christopher Murphy, Benvon C. Cramer, John C.S. Dean, Philip L. Beales, Nicholas Katsanis, Anne S. Bassett, William S. Davidson, Patrick S. Parfrey
Am J Med Genet A. Author manuscript; available in PMC 2012 Mar 6.
Published in final edited form as: Am J Med Genet A. 2005 Feb 1; 132A(4): 352–360. doi: 10.1002/ajmg.a.30406
PMCID:
PMC3295827
AbstractArticlePDF–654K
6.
Caudal regression in adrenocortical dysplasia (acd) mice is caused by telomere dysfunction with subsequent p53-dependent apoptosis
Christopher N. Vlangos, Bridget C. O’Connor, Madeleine J. Morley, Andrea S. Krause, Gail A. Osawa, Catherine E. Keegan
Dev Biol. Author manuscript; available in PMC 2012 Mar 11.
Published in final edited form as: Dev Biol. 2009 Oct 15; 334(2): 418–428. Published online 2009 Aug 3. doi: 10.1016/j.ydbio.2009.07.038
PMCID:
PMC3298753
AbstractArticlePDF–2.4M
7.
Mutations in mouse Ift144 model the craniofacial, limb and rib defects in skeletal ciliopathies
Alyson Ashe, Natalie C. Butterfield, Liam Town, Andrew D. Courtney, Ashley N. Cooper, Charles Ferguson, Rachael Barry, Fredrik Olsson, Karel F. Liem, Jr, Robert G. Parton, Brandon J. Wainwright, Kathryn V. Anderson, Emma Whitelaw, Carol Wicking
Hum Mol Genet. 2012 Apr 15; 21(8): 1808–1823. Published online 2012 Jan 6. doi: 10.1093/hmg/ddr613
PMCID:
PMC3313797
AbstractArticlePDF–740K
8.
Preaxial polydactyly caused by Gli3 haploinsufficiency is rescued by Zic3 loss of function in mice
Malgorzata E. Quinn, Allison Haaning, Stephanie M. Ware
Hum Mol Genet. 2012 Apr 15; 21(8): 1888–1896. Published online 2012 Jan 10. doi: 10.1093/hmg/dds002
PMCID:
PMC3313802
AbstractArticlePDF–327K
9.
Delineation and Diagnostic Criteria of Oral-Facial-Digital Syndrome Type VI
Andrea Poretti, Giuseppina Vitiello, Raoul CM Hennekam, Filippo Arrigoni, Enrico Bertini, Renato Borgatti, Francesco Brancati, Stefano D'Arrigo, Francesca Faravelli, Lucio Giordano, Thierry AGM Huisman, Miriam Iannicelli, Gerhard Kluger, Marten Kyllerman, Magnus Landgren, Melissa M Lees, Lorenzo Pinelli, Romina Romaniello, Ianina Scheer, Christoph E Schwarz, Ronen Spiegel, Daniel Tibussek, Enza Maria Valente, Eugen Boltshauser
Orphanet J Rare Dis. 2012; 7: 4. Published online 2012 Jan 11. doi: 10.1186/1750-1172-7-4
PMCID:
PMC3313869
AbstractArticlePDF–4.4M
10.
Opposing Functions of the ETS Factor Family Define Shh Spatial Expression in Limb Buds and Underlie Polydactyly
Laura A. Lettice, Iain Williamson, John H. Wiltshire, Silvia Peluso, Paul S. Devenney, Alison E. Hill, Abdelkader Essafi, James Hagman, Richard Mort, Graeme Grimes, Carlo L. DeAngelis, Robert E. Hill
Dev Cell. 2012 Feb 14; 22(2): 459–467. doi: 10.1016/j.devcel.2011.12.010
PMCID:
PMC3314984
AbstractArticle
11.
BBS proteins interact genetically with the IFT pathway to influence SHH-related phenotypes
Qihong Zhang, Seongjin Seo, Kevin Bugge, Edwin M. Stone, Val C. Sheffield
Hum Mol Genet. 2012 May 1; 21(9): 1945–1953. Published online 2012 Jan 6. doi: 10.1093/hmg/dds004
PMCID:
PMC3315203
AbstractArticlePDF–301K
12.
A large duplication involving the IHH locus mimics acrocallosal syndrome
Memnune Yuksel-Apak, Nina Bögershausen, Barbara Pawlik, Yun Li, Selcuk Apak, Oya Uyguner, Esther Milz, Gudrun Nürnberg, Birsen Karaman, Ayan Gülgören, Karl-Heinz Grzeschik, Peter Nürnberg, Hülya Kayserili, Bernd Wollnik
Eur J Hum Genet. 2012 Jun; 20(6): 639–644. Published online 2012 Jan 11. doi: 10.1038/ejhg.2011.250
PMCID:
PMC3355252
AbstractArticlePDF–440K
13.
Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactyly
Eva Klopocki, Christian Kähler, Nicola Foulds, Hitesh Shah, Benjamin Joseph, Hermann Vogel, Sabine Lüttgen, Rainer Bald, Regina Besoke, Karsten Held, Stefan Mundlos, Ingo Kurth
Eur J Hum Genet. 2012 Jun; 20(6): 705–708. Published online 2012 Jan 18. doi: 10.1038/ejhg.2011.264
PMCID:
PMC3355260
AbstractArticlePDF–331K
14.
A Novel 13 Base Pair Insertion in the Sonic Hedgehog ZRS Limb Enhancer (LMBR1) Causes Preaxial Polydactyly with Triphalangeal Thumb
Tobias Laurell, Julia E VanderMeer, Aaron M. Wenger, Giedre Grigelioniene, Agneta Nordenskjöld, Marianne Arner, Anna Gerber Ekblom, Gill Bejerano, Nadav Ahituv, Ann Nordgren
Hum Mutat. Author manuscript; available in PMC 2013 Jul 1.
Published in final edited form as: Hum Mutat. 2012 Jul; 33(7): 1063–1066. Published online 2012 May 11. doi: 10.1002/humu.22097
PMCID:
PMC3370115
AbstractArticlePDF–431K
15.
Intrinsic Protein-Protein Interaction-mediated and Chaperonin-assisted Sequential Assembly of Stable Bardet-Biedl Syndrome Protein Complex, the BBSome
Qihong Zhang, Dahai Yu, Seongjin Seo, Edwin M. Stone, Val C. Sheffield
J Biol Chem. 2012 Jun 8; 287(24): 20625–20635. Published online 2012 Apr 12. doi: 10.1074/jbc.M112.341487
PMCID:
PMC3370246
AbstractArticlePDF–2.3M
16.
Mutation Screening of the PTEN Gene in Patients With Autism Spectrum Disorders and Macrocephaly
Joseph D. Buxbaum, Guiqing Cai, Pauline Chaste, Gudrun Nygren, Juliet Goldsmith, Jennifer Reichert, Henrik Anckarsäter, Maria Rastam, Christopher J. Smith, Jeremy M. Silverman, Eric Hollander, Marion Leboyer, Christopher Gillberg, Alain Verloes, Catalina Betancur
Am J Med Genet B Neuropsychiatr Genet. Author manuscript; available in PMC 2012 Jun 25.
Published in final edited form as: Am J Med Genet B Neuropsychiatr Genet. 2007 Jun 5; 144B(4): 484–491. doi: 10.1002/ajmg.b.30493
PMCID:
PMC3381648
AbstractArticlePDF–470K
17.
Hyperactive Neuroendocrine Secretion Causes Size, Feeding, and Metabolic Defects of C. elegans Bardet-Biedl Syndrome Mutants
Brian H. Lee, Jason Liu, Daisy Wong, Supriya Srinivasan, Kaveh Ashrafi
PLoS Biol. 2011 Dec; 9(12): e1001219. Published online 2011 Dec 13. doi: 10.1371/journal.pbio.1001219
PMCID:
PMC3236739
AbstractArticlePDF–1.5M
18.
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes
Jean-Baptiste Rivière, Ghayda M. Mirzaa, Brian J. O’Roak, Margaret Beddaoui, Diana Alcantara, Robert L. Conway, Judith St-Onge, Jeremy A. Schwartzentruber, Karen W. Gripp, Sarah M. Nikkel, Thea Worthylake, Christopher T. Sullivan, Thomas R. Ward, Hailly E. Butler, Nancy A. Kramer, Beate Albrecht, Christine M. Armour, Linlea Armstrong, Oana Caluseriu, Cheryl Cytrynbaum, Beth A. Drolet, A. Micheil Innes, Julie L. Lauzon, Angela E. Lin, Grazia M. S. Mancini, Wendy S. Meschino, James D. Reggin, Anand K. Saggar, Tally Lerman-Sagie, Gökhan Uyanik, Rosanna Weksberg, Birgit Zirn, Chandree L. Beaulieu, FORGE Canada Consortium, Jacek Majewski, Dennis E. Bulman, Mark O’Driscoll, Jay Shendure, John M. Graham, Jr., Kym M. Boycott, William B. Dobyns
Nat Genet. Author manuscript; available in PMC 2013 Feb 1.
Published in final edited form as: Nat Genet. 2012 Aug; 44(8): 934–940. Published online 2012 Jun 24. doi: 10.1038/ng.2331
PMCID:
PMC3408813
AbstractArticlePDF–816K
19.
The intraflagellar transport protein IFT80 is required for cilia formation and osteogenesis
Shuying Yang, Changdong Wang
Bone. Author manuscript; available in PMC 2013 Sep 1.
Published in final edited form as: Bone. 2012 Sep; 51(3): 407–417. Published online 2012 Jul 4. doi: 10.1016/j.bone.2012.06.021
PMCID:
PMC3412883
AbstractArticlePDF–2.3M
20.
TCTN3 Mutations Cause Mohr-Majewski Syndrome
Sophie Thomas, Marine Legendre, Sophie Saunier, Bettina Bessières, Caroline Alby, Maryse Bonnière, Annick Toutain, Laurence Loeuillet, Katarzyna Szymanska, Frédérique Jossic, Dominique Gaillard, Mohamed Tahar Yacoubi, Soumaya Mougou-Zerelli, Albert David, Marie-Anne Barthez, Yves Ville, Christine Bole-Feysot, Patrick Nitschke, Stanislas Lyonnet, Arnold Munnich, Colin A. Johnson, Férechté Encha-Razavi, Valérie Cormier-Daire, Christel Thauvin-Robinet, Michel Vekemans, Tania Attié-Bitach
Am J Hum Genet. 2012 Aug 10; 91(2): 372–378. doi: 10.1016/j.ajhg.2012.06.017
PMCID:
PMC3415538
AbstractArticlePDF–714K

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