PMC Articles for MedGen (Select 481845) - PMC

Ute Hehr, Daniel E. Pineda-Alvarez, Goekhan Uyanik, Ping Hu, Nan Zhou, Andreas Hehr, Chayim Schell-Apacik, Carola Altus, Cornelia Daumer-Haas, Annechristin Meiner, Peter Steuernagel, Erich Roessler, Juergen Winkler, Maximilian Muenke

Hum Genet. Author manuscript; available in PMC 2014 Jul 17.

Published in final edited form as: Hum Genet. 2010 Mar; 127(5): 555–561. Published online 2010 Feb 16. doi: 10.1007/s00439-010-0797-4

PMCID:: PMC4101187

Abstract Article PDF–332K

Select item 35092164.

Detection rates of clinically significant genomic alterations by microarray analysis for specific anomalies detected by ultrasound

Lisa G Shaffer, Jill A Rosenfeld, Mindy P Dabell, Justine Coppinger, Anne M Bandholz, Jay W Ellison, J Britt Ravnan, Beth S Torchia, Blake C Ballif, Allan J Fisher

Prenat Diagn. 2012 Oct; 32(10): 986–995. Published online 2012 Jul 30. doi: 10.1002/pd.3943

PMCID:: PMC3509216

Abstract Article PDF–229K

Select item 35015515.

Comparison of mutation findings in ZIC2 between microform and classical holoprosencephaly in a Brazilian cohort

Lucilene A. Ribeiro, Erich Roessler, Ping Hu, Daniel E. Pineda-Alvarez, Nan Zhou, MaryPat Jones, Settara Chandrasekharappa, Antonio Richieri-Costa, Maximilian Muenke

Birth Defects Res A Clin Mol Teratol. Author manuscript; available in PMC 2013 Nov 1.

Published in final edited form as: Birth Defects Res A Clin Mol Teratol. 2012 Nov; 94(11): 912–917. Published online 2012 Jul 27. doi: 10.1002/bdra.23047

PMCID:: PMC3501551

Abstract Article PDF–299K

Select item 34694346.

Cdon Mutation and Fetal Ethanol Exposure Synergize to Produce Midline Signaling Defects and Holoprosencephaly Spectrum Disorders in Mice

Mingi Hong, Robert S. Krauss

PLoS Genet. 2012 Oct; 8(10): e1002999. Published online 2012 Oct 11. doi: 10.1371/journal.pgen.1002999

PMCID:: PMC3469434

Abstract Article PDF–8.1M

Select item 33869027.

New findings for phenotype-genotype correlations in a large European series of holoprosencephaly cases

Sandra Mercier, Christèle Dubourg, Nicolas Garcelon, Boris Campillo-Gimenez, Isabelle Gicquel, Marion Belleguic, Leslie Ratié, Laurent Pasquier, Philippe Loget, Claude Bendavid, Sylvie Jaillard, Lucie Rochard, Chloé Quélin, Valérie Dupé, Véronique David, Sylvie Odent

J Med Genet. Author manuscript; available in PMC 2012 Nov 1.

Published in final edited form as: J Med Genet. 2011 Nov; 48(11): 752–760. Published online 2011 Sep 22. doi: 10.1136/jmedgenet-2011-100339

PMCID:: PMC3386902

Abstract Article

Select item 32004988.

A Broad Range of Ophthalmologic Anomalies is Part of the Holoprosencephaly Spectrum

Daniel E. Pineda-Alvarez, Benjamin D. Solomon, Erich Roessler, Joan Z. Balog, Donald W. Hadley, Wadih M. Zein, Casey K. Hadsall, Brian P. Brooks, Maximilian Muenke

Am J Med Genet A. Author manuscript; available in PMC 2012 Nov 1.

Published in final edited form as: Am J Med Genet A. 2011 Nov; 155(11): 2713–2720. Published online 2011 Oct 4. doi: 10.1002/ajmg.a.34261

PMCID:: PMC3200498

Abstract Article PDF–396K

Select item 31551799.

Mutations in CDON, Encoding a Hedgehog Receptor, Result in Holoprosencephaly and Defective Interactions with Other Hedgehog Receptors

Gyu-Un Bae, Sabina Domené, Erich Roessler, Karen Schachter, Jong-Sun Kang, Maximilian Muenke, Robert S. Krauss

Am J Hum Genet. 2011 Aug 12; 89(2): 231–240. doi: 10.1016/j.ajhg.2011.07.001

PMCID:: PMC3155179

Abstract Article PDF–989K

Select item 413192510.

New Syndrome of Congenital Circumferential Skin Folds Associated with Multiple Congenital Anomalies

Lina Basel-Vanagaite, Eli Sprecher, Andrea Gat, Paul Merlob, Adi Albin-Kaplanski, Osnat Konen, Benjamin D. Solomon, Maximilian Muenke, Karl H. Grzeschik, Lea Sirota

Pediatr Dermatol. Author manuscript; available in PMC 2014 Aug 13.

Published in final edited form as: Pediatr Dermatol. 2012 Jan-Feb; 29(1): 89–95. Published online 2011 Oct 13. doi: 10.1111/j.1525-1470.2011.01403.x

PMCID:: PMC4131925

Abstract Article PDF–438K

Select item 309745811.

Boc modifies the holoprosencephaly spectrum of Cdo mutant mice

Wei Zhang, Mingi Hong, Gyu-un Bae, Jong-Sun Kang, Robert S. Krauss

Dis Model Mech. 2011 May; 4(3): 368–380. Published online 2010 Dec 23. doi: 10.1242/dmm.005744

PMCID:: PMC3097458

Abstract Article

Select item 298655612.

Characterization of two ectrodactyly-associated translocation breakpoints separated by 2.5 Mb on chromosome 2q14.1–q14.2

Dezső David, Bárbara Marques, Cristina Ferreira, Paula Vieira, Alfredo Corona-Rivera, José Carlos Ferreira, Hans van Bokhoven

Eur J Hum Genet. 2009 Aug; 17(8): 1024–1033. Published online 2009 Feb 18. doi: 10.1038/ejhg.2009.2

PMCID:: PMC2986556

Abstract Article PDF–403K

Select item 267968013.

The mode of Hedgehog binding to Ihog homologs is not conserved across different phyla

Jason S. McLellan, Xiaoyan Zheng, Glenn Hauk, Rodolfo Ghirlando, Philip A. Beachy, Daniel J. Leahy

Nature. Author manuscript; available in PMC 2009 May 8.

Published in final edited form as: Nature. 2008 Oct 16; 455(7215): 979–983. Published online 2008 Sep 14. doi: 10.1038/nature07358

PMCID:: PMC2679680

Abstract Article PDF–1.3M

Select item 264861114.

Regulation of a remote Sonic hedgehog forebrain enhancer by the Six3 homeoprotein

Yongsu Jeong, Federico Coluccio Leskow, Kenia El-Jaick, Erich Roessler, Maximilian Muenke, Anastasia Yocum, Christele Dubourg, Xue Li, Xin Geng, Guillermo Oliver, Douglas J. Epstein

Nat Genet. Author manuscript; available in PMC 2009 May 1.

Published in final edited form as: Nat Genet. 2008 Nov; 40(11): 1348–1353. Published online 2008 Oct 5. doi: 10.1038/ng.230

PMCID:: PMC2648611

Abstract Article PDF–2.9M

Select item 148900215.

Cortical Thinning and Hydrocephalus in Mice Lacking the Immunoglobulin Superfamily Member CDO

Wei Zhang, Min-Jeong Yi, Xiaoping Chen, Francesca Cole, Robert S. Krauss, Jong-Sun Kang

Mol Cell Biol. 2006 May; 26(10): 3764–3772. doi: 10.1128/MCB.26.10.3764-3772.2006

PMCID:: PMC1489002

Abstract Article PDF–825K

Select item 128217416.

Molecular mechanisms of Sonic hedgehog mutant effects in holoprosencephaly

Tapan Maity, Naoyuki Fuse, Philip A. Beachy

Proc Natl Acad Sci U S A. 2005 Nov 22; 102(47): 17026–17031. Published online 2005 Nov 10. doi: 10.1073/pnas.0507848102

PMCID:: PMC1282174

Abstract Article PDF–527K

Select item 105111617.

Different proximal and distal rearrangements of chromosome 7q associated with holoprosencephaly.

B Benzacken, J P Siffroi, C Le Bourhis, K Krabchi, N Joyé, F Maschino, F Viguié, J Soulié, M Gonzales, G Migné, M Bucourt, F Encha-Razavi, L Carbillon, J L Taillemite

J Med Genet. 1997 Nov; 34(11): 899–903. doi: 10.1136/jmg.34.11.899

PMCID:: PMC1051116

Summary Page Browse PDF–1.5M

Select item 101661318.

Pseudotrisomy 13 and autosomal recessive holoprosencephaly.

M J Seller, L S Chitty, H Dunbar

J Med Genet. 1993 Nov; 30(11): 970–971. doi: 10.1136/jmg.30.11.970

PMCID:: PMC1016613

Summary Page Browse PDF–347K

Select item 677744719.

Schilbach–Rott syndrome associated with 9q22.32q22.33 duplication, involving the PTCH1 gene

Paolo Prontera, Daniela Rogaia, Ester Sallicandro, Amedea Mencarelli, Valentina Imperatore, Gabriella Maria Squeo, Giuseppe Merla, Sandro Elisei, Danilo Moretti-Ferreira, Susanna Esposito, Gabriela Stangoni

Eur J Hum Genet. 2019 Aug; 27(8): 1260–1266. Published online 2019 Apr 1. doi: 10.1038/s41431-019-0385-6

PMCID:: PMC6777447

Abstract Article PDF–919K

Select item 860621620.

Two new cases of interstitial 7q35q36.1 deletion including CNTNAP2 and KMT2C

Lucie Tosca, Loïc Drévillon, Aurélie Mouka, Laure Lecerf, Audrey Briand, Valérie Ortonne, Virginie Benoit, Sophie Brisset, Lionel Van Maldergem, Quitterie Laudouar, Solveig Heide, Michel Goossens, Irina Giurgea, Gérard Tachdjian, Corinne Métay

Mol Genet Genomic Med. 2021 Nov; 9(11): e1645. Published online 2021 Sep 28. doi: 10.1002/mgg3.1645

PMCID:: PMC8606216

Abstract Article PDF–1.3M

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