PMC Articles for MedGen (Select 162915) - PMC

Reza Asadollahi, Justin E Strauss, Martin Zenker, Oliver Beuing, Simon Edvardson, Orly Elpeleg, Tim M Strom, Pascal Joset, Dunja Niedrist, Christine Otte, Beatrice Oneda, Paranchai Boonsawat, Silvia Azzarello-Burri, Deborah Bartholdi, Michael Papik, Markus Zweier, Cordula Haas, Arif B Ekici, Alessandra Baumer, Eugen Boltshauser, Katharina Steindl, Michael Nothnagel, Albert Schinzel, Esther T Stoeckli, Anita Rauch

Eur J Hum Genet. 2018 Feb; 26(2): 197–209. Published online 2018 Jan 10. doi: 10.1038/s41431-017-0019-9

PMCID:: PMC5839020

Article PDF–3.2M

Select item 33552524.

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

Article PDF–440K

Select item 23973805.

The Greig cephalopolysyndactyly syndrome

Leslie G Biesecker

Orphanet J Rare Dis. 2008; 3: 10. Published online 2008 Apr 24. doi: 10.1186/1750-1172-3-10

PMCID:: PMC2397380

Article PDF–499K

Select item 10504606.

The acrocallosal syndrome in first cousins: widening of the spectrum of clinical features and further support for autosomal recessive inheritance.

A Schinzel

J Med Genet. 1988 May; 25(5): 332–336. doi: 10.1136/jmg.25.5.332

PMCID:: PMC1050460

Summary Page Browse PDF–1.2M

Select item 10160947.

The acrocallosal syndrome and Greig syndrome are not allelic disorders.

L A Brueton, K A Chotai, L van Herwerden, A Schinzel, R M Winter

J Med Genet. 1992 Sep; 29(9): 635–637. doi: 10.1136/jmg.29.9.635

PMCID:: PMC1016094

Summary Page Browse PDF–432K

Select item 36748368.

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes

Audrey Putoux, Sophie Thomas, Karlien L M Coene, Erica E Davis, Yasemin Alanay, Gönül Ogur, Elif Uz, Daniela Buzas, Céline Gomes, Sophie Patrier, Christopher L Bennett, Nadia Elkhartoufi, Marie-Hélène Saint Frison, Luc Rigonnot, Nicole Joyé, Solenn Pruvost, Gulen Eda Utine, Koray Boduroglu, Patrick Nitschke, Laura Fertitta, Christel Thauvin-Robinet, Arnold Munnich, Valérie Cormier-Daire, Raoul Hennekam, Estelle Colin, Nurten Ayse Akarsu, Christine Bole-Feysot, Nicolas Cagnard, Alain Schmitt, Nicolas Goudin, Stanislas Lyonnet, Férechté Encha-Razavi, Jean-Pierre Siffroi, Mark Winey, Nicholas Katsanis, Marie Gonzales, Michel Vekemans, Philip L Beales, Tania Attié-Bitach

Nat Genet. Author manuscript; available in PMC 2013 Jun 6.

Published in final edited form as: Nat Genet. 2011 Jun; 43(6): 601–606. Published online 2011 May 8. doi: 10.1038/ng.826

PMCID:: PMC3674836

Article PDF–1.2M

Select item 29673969.

Behavioral Features in Young Adults with FG Syndrome (Opitz-Kaveggia Syndrome)

John M Graham, Jr, Robin D Clark, John B Moeschler, R. Curtis Rogers

Am J Med Genet C Semin Med Genet. Author manuscript; available in PMC 2011 Nov 15.

Published in final edited form as: Am J Med Genet C Semin Med Genet. 2010 Nov 15; 154C(4): 477–485. doi: 10.1002/ajmg.c.30284

PMCID:: PMC2967396

Article PDF–212K

Select item 294967510.

Corpus callosum agenesis and rehabilitative treatment

Matteo Chiappedi, Maurizio Bejor

Ital J Pediatr. 2010; 36: 64. Published online 2010 Sep 17. doi: 10.1186/1824-7288-36-64

PMCID:: PMC2949675

Article PDF–210K

Select item 266958111.

Why Schizophrenia Epidemiology Needs Neurobiology—and Vice Versa

John J. McGrath, Linda J. Richards

Schizophr Bull. 2009 May; 35(3): 577–581. Published online 2009 Mar 9. doi: 10.1093/schbul/sbp004

PMCID:: PMC2669581

Article PDF–58K

Select item 173502212.

De novo GLI3 mutation in acrocallosal syndrome: broadening the phenotypic spectrum of GLI3 defects and overlap with murine models

E Elson, R Perveen, D Donnai, S Wall, G Black

J Med Genet. 2002 Nov; 39(11): 804–806. doi: 10.1136/jmg.39.11.804

PMCID:: PMC1735022

Summary PDF–117K

Select item 723919313.

EAPCI Position Statement on Invasive Management of Acute Coronary Syndromes during the COVID-19 pandemic

Alaide Chieffo, Giulio G Stefanini, Susanna Price, Emanuele Barbato, Giuseppe Tarantini, Nicole Karam, Raul Moreno, Gill Louise Buchanan, Martine Gilard, Sigrun Halvorsen, Kurt Huber, Stefan James, Franz-Josef Neumann, Helge Möllmann, Marco Roffi, Guido Tavazzi, Josepa Mauri Ferré, Stephan Windecker, Dariusz Dudek, Andreas Baumbach

Eur Heart J. 2020 May 14; 41(19): 1839–1851. Published online 2020 May 14. doi: 10.1093/eurheartj/ehaa381

PMCID:: PMC7239193

Article PDF–1.1M

Select item 796395514.

Assessment of Sulcation of the Fetal Brain in Cases of Isolated Agenesis of the Corpus Callosum Using In Utero MR Imaging

D.J. Warren, D.J.A. Connolly, P.D. Griffiths

AJNR Am J Neuroradiol. 2010 Jun-Jul; 31(6): 1085–1090. doi: 10.3174/ajnr.A1982

PMCID:: PMC7963955

Article PDF–823K

Select item 705141315.

Variability of Homotopic and Heterotopic Callosal Connectivity in Partial Agenesis of the Corpus Callosum: A 3T Diffusion Tensor Imaging and Q-Ball Tractography Study

M. Wahl, Z. Strominger, R.J. Jeremy, A.J. Barkovich, M. Wakahiro, E.H. Sherr, P. Mukherjee

AJNR Am J Neuroradiol. 2009 Feb; 30(2): 282–289. doi: 10.3174/ajnr.A1361

PMCID:: PMC7051413

Article

Select item 705141016.

Agenesis of the Corpus Callosum: An MR Imaging Analysis of Associated Abnormalities in the Fetus

P.H. Tang, A.I. Bartha, M.E. Norton, A.J. Barkovich, E.H. Sherr, O.A. Glenn

AJNR Am J Neuroradiol. 2009 Feb; 30(2): 257–263. doi: 10.3174/ajnr.A1331

PMCID:: PMC7051410

Article

Select item 603401317.

Diffusion-Weighted Imaging in Fetuses with Unilateral Cortical Malformations and Callosal Agenesis

O.A. Glenn, E.M. Quiroz, J.I. Berman, C. Studholme, D. Xu

AJNR Am J Neuroradiol. 2010 Jun-Jul; 31(6): 1100–1102. doi: 10.3174/ajnr.A1863

PMCID:: PMC6034013

Article PDF–737K

Select item 308993718.

Acrocallosal syndrome in a young hypertensive male

Vishal V Ramteke, Pramod A Darole, Zohaib Farooqui Shaikh, Namita J Padwal, Brijesh Agrawal, Makardhwaj S Shrivastava, Sandhya Kamath

BMJ Case Rep. 2011; 2011: bcr1220103648. Published online 2011 May 3. doi: 10.1136/bcr.12.2010.3648

PMCID:: PMC3089937

Article PDF–3.3M

Select item 276216619.

Transient Neuronal Populations Are Required to Guide Callosal Axons: A Role for Semaphorin 3C

Mathieu Niquille, Sonia Garel, Fanny Mann, Jean-Pierre Hornung, Belkacem Otsmane, Sébastien Chevalley, Carlos Parras, Francois Guillemot, Patricia Gaspar, Yuchio Yanagawa, Cécile Lebrand

PLoS Biol. 2009 Oct; 7(10): e1000230. Published online 2009 Oct 27. doi: 10.1371/journal.pbio.1000230

PMCID:: PMC2762166

Article PDF–1.6M

Select item 275474520.

Auditory interhemispheric transfer in relation to patterns of partial agenesis and hypoplasia of the corpus callosum in spina bifida meningomyelocele

H. Julia Hannay, Amy Walker, Maureen Dennis, Larry Kramer, Susan Blaser, Jack M. Fletcher

J Int Neuropsychol Soc. Author manuscript; available in PMC 2009 Sep 30.

Published in final edited form as: J Int Neuropsychol Soc. 2008 Sep; 14(5): 771–781. doi: 10.1017/S1355617708080958

PMCID:: PMC2754745

Article PDF–440K

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 500

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity