PMC Articles for MedGen (Select 1794252) - PMC

Result Filters

Links from MedGen

Items: 1 to 20 of 116

<< First< Prev

Page of 6

Select item 44775131.

Heterozygous Deletion of FOXA2 Segregates with Disease in a Family with Heterotaxy, Panhypopituitarism, and Biliary Atresia

Ellen A. Tsai, Christopher M. Grochowski, Alexandra M. Falsey, Ramakrishnan Rajagopalan, Danielle Wendel, Marcella Devoto, Ian D. Krantz, Kathleen M. Loomes, Nancy B. Spinner

Hum Mutat. Author manuscript; available in PMC 2016 Jun 1.

Published in final edited form as: Hum Mutat. 2015 Jun; 36(6): 631–637. Published online 2015 Apr 21. doi: 10.1002/humu.22786

PMCID:: PMC4477513

Abstract Article PDF–1.0M

Select item 38698672.

The Heterotaxy gene, GALNT11, glycosylates Notch to orchestrate cilia type and laterality

Marko T. Boskovski, Shiaulou Yuan, Nis Borbye Pedersen, Christoffer Knak Goth, Svetlana Makova, Henrik Clausen, Martina Brueckner, Mustafa K. Khokha

Nature. Author manuscript; available in PMC 2014 Jun 19.

Published in final edited form as: Nature. 2013 Dec 19; 504(7480): 456–459. Published online 2013 Nov 13. doi: 10.1038/nature12723

PMCID:: PMC3869867

Abstract Article PDF–1.6M

Select item 38919863.

ZEB2, a new candidate gene for asplenia

Linda Pons, Sophie Dupuis-Girod, Marie-Pierre Cordier, Patrick Edery, Massimiliano Rossi

Orphanet J Rare Dis. 2014; 9: 2. Published online 2014 Jan 8. doi: 10.1186/1750-1172-9-2

PMCID:: PMC3891986

Abstract Article PDF–144K

Select item 39161114.

NPHP4 Variants are Associated with Pleiotropic Heart Malformations

Vanessa M. French, Ingrid M.B.H. van de Laar, Marja W. Wessels, Christan Rohe, Jolien W. Roos-Hesselink, Guangliang Wang, Ingrid M.E. Frohn-Mulder, Lies-Anne Severijnen, Bianca M. de Graaf, Rachel Schot, Guido Breedveld, Edwin Mientjes, Marianne van Tienhoven, Elodie Jadot, Zhengxin Jiang, Annemieke Verkerk, Sigrid Swagemakers, Hanka Venselaar, Zohreh Rahimi, Hossein Najmabadi, Hanne Meijers-Heijboer, Esther de Graaff, Wim A. Helbing, Rob Willemsen, Koen Devriendt, John W. Belmont, Ben A. Oostra, Jeffrey D. Amack, Aida M. Bertoli-Avella

Circ Res. Author manuscript; available in PMC 2014 Feb 6.

Published in final edited form as: Circ Res. 2012 Jun 8; 110(12): 1564–1574. Published online 2012 May 1. doi: 10.1161/CIRCRESAHA.112.269795

PMCID:: PMC3916111

Abstract Article PDF–3.0M

Select item 39463525.

Genetic and functional analyses of ZIC3 variants in congenital heart disease

Jason Cowan, Muhammad Tariq, Stephanie M. Ware

Hum Mutat. Author manuscript; available in PMC 2015 Jan 1.

Published in final edited form as: Hum Mutat. 2014 Jan; 35(1): 66–75. doi: 10.1002/humu.22457

PMCID:: PMC3946352

Abstract Article PDF–1.0M

Select item 39510226.

A potential molecular pathogenesis of cardiac/laterality defects in Oculo-Facio-Cardio-Dental syndrome

Koichi Tanaka, Akiko Kato, Chelsea Angelocci, Minoru Watanabe, Yoichi Kato

Dev Biol. Author manuscript; available in PMC 2015 Mar 1.

Published in final edited form as: Dev Biol. 2014 Mar 1; 387(1): 28–36. Published online 2014 Jan 17. doi: 10.1016/j.ydbio.2014.01.003

PMCID:: PMC3951022

Abstract Article PDF–2.3M

Select item 39588137.

Of mice and men: molecular genetics of congenital heart disease

Troels Askhøj Andersen, Karin de Linde Lind Troelsen, Lars Allan Larsen

Cell Mol Life Sci. 2014 Apr; 71(8): 1327–1352. Published online 2013 Aug 10. doi: 10.1007/s00018-013-1430-1

PMCID:: PMC3958813

Abstract Article PDF–667K

Select item 40015528.

Testicular differentiation factor SF-1 is required for human spleen development

David Zangen, Yotam Kaufman, Ehud Banne, Ariella Weinberg-Shukron, Abdulsalam Abulibdeh, Benjamin P. Garfinkel, Dima Dweik, Moein Kanaan, Núria Camats, Christa Flück, Paul Renbaum, Ephrat Levy-Lahad

J Clin Invest. 2014 May 1; 124(5): 2071–2075. Published online 2014 Apr 8. doi: 10.1172/JCI73186

PMCID:: PMC4001552

Abstract Article PDF–1.9M

Select item 41906679.

Clinical and serologic parallels to APS-I in patients with thymomas, and autoantigen transcripts in their tumors

Anette S. B. Wolff, Jaanika Kärner, Jone F. Owe, Bergithe E.V. Oftedal, Nils Erik Gilhus, Martina M. Erichsen, Olle Kämpe, Anthony Meager, Pärt Peterson, Kai Kisand, Nick Willcox, Eystein S. Husebye

J Immunol. Author manuscript; available in PMC 2015 Apr 15.

Published in final edited form as: J Immunol. 2014 Oct 15; 193(8): 3880–3890. Published online 2014 Sep 17. doi: 10.4049/jimmunol.1401068

PMCID:: PMC4190667

Abstract Article PDF–919K

Select item 421933510.

Laterality Defects Other Than Situs Inversus Totalis in Primary Ciliary Dyskinesia: Insights Into Situs Ambiguus and Heterotaxy

Adam J. Shapiro, Stephanie D. Davis, Thomas Ferkol, Sharon D. Dell, Margaret Rosenfeld, Kenneth N. Olivier, Scott D. Sagel, Carlos Milla, Maimoona A. Zariwala, Whitney Wolf, Johnny L. Carson, Milan J. Hazucha, Kimberlie Burns, Blair Robinson, Michael R. Knowles, Margaret W. Leigh

Chest. 2014 Nov; 146(5): 1176–1186. Published online 2014 Feb 27. doi: 10.1378/chest.13-1704

PMCID:: PMC4219335

Abstract Article PDF–816K

Select item 428379111.

Rapid Whole-Genome Sequencing for Genetic Disease Diagnosis in Neonatal Intensive Care Units

Carol Jean Saunders, Neil Andrew Miller, Sarah Elizabeth Soden, Darrell Lee Dinwiddie, Aaron Noll, Noor Abu Alnadi, Nevene Andraws, Melanie LeAnn Patterson, Lisa Ann Krivohlavek, Joel Fellis, Sean Humphray, Peter Saffrey, Zoya Kingsbury, Jacqueline Claire Weir, Jason Betley, Russell James Grocock, Elliott Harrison Margulies, Emily Gwendolyn Farrow, Michael Artman, Nicole Pauline Safina, Joshua Erin Petrikin, Kevin Peter Hall, Stephen Francis Kingsmore

Sci Transl Med. Author manuscript; available in PMC 2015 Jan 5.

Published in final edited form as: Sci Transl Med. 2012 Oct 3; 4(154): 154ra135. doi: 10.1126/scitranslmed.3004041

PMCID:: PMC4283791

Abstract Article PDF–771K

Select item 430882512.

Duplication and Deletion of CFC1 Associated with Heterotaxy Syndrome

Ruixue Cao, Fei Long, Liping Wang, Yuejuan Xu, Ying Guo, Fen Li, Sun Chen, Kun Sun, Rang Xu

DNA Cell Biol. 2015 Feb 1; 34(2): 101–106. doi: 10.1089/dna.2014.2616

PMCID:: PMC4308825

Abstract Article PDF–164K

Select item 436100113.

ANKS6 is the critical activator of NEK8 kinase in embryonic situs determination and organ patterning

Peter G. Czarnecki, George C. Gabriel, Danielle K. Manning, Mikhail Sergeev, Kristi Lemke, Nikolai T. Klena, Xiaoqin Liu, Yu Chen, You Li, Jovenal T. San Agustin, Maija K. Garnaas, Richard J. Francis, Kimimasa Tobita, Wolfram Goessling, Gregory J. Pazour, Cecilia W. Lo, David R. Beier, Jagesh V. Shah

Nat Commun. Author manuscript; available in PMC 2015 Jul 20.

Published in final edited form as: Nat Commun. 2015; 6: 6023. Published online 2015 Jan 20. doi: 10.1038/ncomms7023

PMCID:: PMC4361001

Abstract Article PDF–3.3M

Select item 436977414.

The prevalence of clinical features associated with primary ciliary dyskinesia in a heterotaxy population: results of a web-based survey

Adam J. Shapiro, Sue Tolleson-Rinehart, Maimoona A. Zariwala, Michael R. Knowles, Margaret W. Leigh

Cardiol Young. Author manuscript; available in PMC 2015 Apr 1.

Published in final edited form as: Cardiol Young. 2015 Apr; 25(4): 752–759. Published online 2014 Jun 6. doi: 10.1017/S1047951114000912

PMCID:: PMC4369774

Abstract Article PDF–504K

Select item 377072815.

High Prevalence of Respiratory Ciliary Dysfunction in Congenital Heart Disease Patients With Heterotaxy

Nader Nakhleh, Richard Francis, Rachel A. Giese, Xin Tian, You Li, Maimoona A. Zariwala, Hisato Yagi, Omar Khalifa, Safina Kureshi, Bishwanath Chatterjee, Steven L. Sabol, Matthew Swisher, Patricia S. Connelly, Mathew P. Daniels, Ashok Srinivasan, Karen Kuehl, Nadav Kravitz, Kimberlie Burns, Iman Sami, Heymut Omran, Michael Barmada, Kenneth Olivier, Kunal K. Chawla, Margaret Leigh, Richard Jonas, Michael Knowles, Linda Leatherbury, Cecilia W. Lo

Circulation. Author manuscript; available in PMC 2013 Sep 11.

Published in final edited form as: Circulation. 2012 May 8; 125(18): 2232–2242. Published online 2012 Apr 12. doi: 10.1161/CIRCULATIONAHA.111.079780

PMCID:: PMC3770728

Abstract Article PDF–1.0M

Select item 453820616.

A human laterality disorder associated with a homozygous WDR16 deletion

Asaf Ta-Shma, Zeev Perles, Barak Yaacov, Marion Werner, Ayala Frumkin, Azaria JJT Rein, Orly Elpeleg

Eur J Hum Genet. 2015 Sep; 23(9): 1262–1265. Published online 2014 Dec 3. doi: 10.1038/ejhg.2014.265

PMCID:: PMC4538206

Abstract Article PDF–713K

Select item 463090517.

A case report of primary ciliary dyskinesia, laterality defects and developmental delay caused by the co-existence of a single gene and chromosome disorder

Jillian P. Casey, Patricia Goggin, Jennifer McDaid, Martin White, Sean Ennis, David R. Betts, Jane S. Lucas, Basil Elnazir, Sally Ann Lynch

BMC Med Genet. 2015; 16: 45. Published online 2015 Jun 30. doi: 10.1186/s12881-015-0192-z

PMCID:: PMC4630905

Abstract Article PDF–2.1M

Select item 467358318.

Possible Genetic Origin of Limb-Body Wall Complex

David C. Gajzer, Alicia Cristina Hirzel, Gaurav Saigal, Claudia Patricia Rojas, Maria Matilde Rodriguez

Fetal Pediatr Pathol. 2015 Jul 4; 34(4): 257–270. Published online 2015 Jun 25. doi: 10.3109/15513815.2015.1055021

PMCID:: PMC4673583

Abstract Article PDF–660K

Select item 476927019.

DNAH6 and Its Interactions with PCD Genes in Heterotaxy and Primary Ciliary Dyskinesia

You Li, Hisato Yagi, Ezenwa Obi Onuoha, Rama Rao Damerla, Richard Francis, Yoshiyuki Furutani, Muhammad Tariq, Stephen M. King, Gregory Hendricks, Cheng Cui, Manush Saydmohammed, Dong Min Lee, Maliha Zahid, Iman Sami, Linda Leatherbury, Gregory J. Pazour, Stephanie M. Ware, Toshio Nakanishi, Elizabeth Goldmuntz, Michael Tsang, Cecilia W. Lo

PLoS Genet. 2016 Feb; 12(2): e1005821. Published online 2016 Feb 26. doi: 10.1371/journal.pgen.1005821

PMCID:: PMC4769270

Abstract Article PDF–1.0M

Select item 483795320.

Rare Variants in the Notch Signaling Pathway Describe a Novel Type of Autosomal Recessive Klippel–Feil Syndrome

Ender Karaca, Ozge O. Yuregir, Sevcan T. Bozdogan, Huseyin Aslan, Davut Pehlivan, Shalini N. Jhangiani, Zeynep C. Akdemir, Tomasz Gambin, Yavuz Bayram, Mehmed M. Atik, Serkan Erdin, Donna Muzny, Richard A. Gibbs, James R. Lupski, The Baylor-Hopkins Center for Mendelian Genomics

Am J Med Genet A. Author manuscript; available in PMC 2016 Apr 20.

Published in final edited form as: Am J Med Genet A. 2015 Nov; 167A(11): 2795–2799. Published online 2015 Aug 4. doi: 10.1002/ajmg.a.37263

PMCID:: PMC4837953

Abstract Article PDF–334K

<< First< Prev

Page of 6

Next >Last >>

Supplemental Content

Filter your results:

Manage Filters

Find related data

Recent activity

Clear Turn Off Turn On

PMC Articles for MedGen (Select 1794252) (116)
PMC
PMC Articles for MedGen (Select 10296) (1000)
PMC
Bilateria sodium/potassium ATPase alpha subunit mRNA, partial cds.
Bilateria sodium/potassium ATPase alpha subunit mRNA, partial cds.
PopSet: 115531564

PopSet
Metazoa alpha enolase gene, partial cds.
Metazoa alpha enolase gene, partial cds.
PopSet: 120972519

PopSet
Gordius cytochrome b (cytb) gene, partial cds; mitochondrial.
Gordius cytochrome b (cytb) gene, partial cds; mitochondrial.
PopSet: 697347692

PopSet

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from MedGen

Items: 1 to 20 of 116

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity