PMC Links for Books (Select 2476242) - PMC

Select item 104257151.

Diagnostic Gene Panel Testing in (Non)-Syndromic Patients with Cleft Lip, Alveolus and/or Palate in the Netherlands

Lisca Florence Wurfbain, Inge Lucia Cox, Maria Francisca van Dooren, Augusta Maria Antonia Lachmeijer, Virginie Johanna Maria Verhoeven, Johanna Maria van Hagen, Malou Heijligers, Jolien Sietske Klein Wassink-Ruiter, Saskia Koene, Saskia Mariska Maas, Hermine Elisabeth Veenstra-Knol, Johannes Kristian Ploos van Amstel, Maarten Pieter Gerrit Massink, Aebele Barber Mink van der Molen, Marie-José Henriette van den Boogaard

Mol Syndromol. 2023 Aug; 14(4): 270–282. Published online 2023 Jun 8. doi: 10.1159/000530256

PMCID:: PMC10425715

Abstract Article PDF–226K

Select item 93144842.

Variation among DNA banking consent forms: points for clinicians to bank on

Samuel J. Huang, Laura M. Amendola, Darci L. Sternen

J Community Genet. 2022 Aug; 13(4): 389–397. Published online 2022 Jul 14. doi: 10.1007/s12687-022-00601-3

PMCID:: PMC9314484

Abstract Article PDF–776K

Select item 45447533.

Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W. Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector, Karl Voelkerding, Heidi L. Rehm

Genet Med. Author manuscript; available in PMC 2015 Nov 1.

Published in final edited form as: Genet Med. 2015 May; 17(5): 405–424. Published online 2015 Mar 5. doi: 10.1038/gim.2015.30

PMCID:: PMC4544753

Abstract Article PDF–960K

Select item 37233074.

Analysis of TFAP2A mutations in Branchio-Oculo-Facial Syndrome indicates functional complexity within the AP-2α DNA-binding domain

Hong Li, Ryan Sheridan, Trevor Williams

Hum Mol Genet. 2013 Aug 15; 22(16): 3195–3206. Published online 2013 Apr 10. doi: 10.1093/hmg/ddt173

PMCID:: PMC3723307

Abstract Article PDF–625K

Select item 30838355.

Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulators

Gaia Gestri, Robert J. Osborne, Alexander W. Wyatt, Dianne Gerrelli, Susan Gribble, Helen Stewart, Alan Fryer, David J. Bunyan, Katrina Prescott, J. Richard O. Collin, Tomas Fitzgerald, David Robinson, Nigel P. Carter, Stephen W. Wilson, Nicola K. Ragge

Hum Genet. Author manuscript; available in PMC 2011 Apr 28.

Published in final edited form as: Hum Genet. 2009 Dec; 126(6): 791–803. doi: 10.1007/s00439-009-0730-x

PMCID:: PMC3083835

Abstract Article PDF–1.3M

Select item 24272436.

TFAP2A Mutations Result in Branchio-Oculo-Facial Syndrome

Jeff M. Milunsky, Tom A. Maher, Geping Zhao, Amy E. Roberts, Heather J. Stalker, Roberto T. Zori, Michelle N. Burch, Michele Clemens, John B. Mulliken, Rosemarie Smith, Angela E. Lin

Am J Hum Genet. 2008 May 9; 82(5): 1171–1177. Published online 2008 May 2. doi: 10.1016/j.ajhg.2008.03.005

Correction in:: Am J Hum Genet. 2009 Feb 13; 84(2): 301.

PMCID:: PMC2427243

Abstract Article PDF–676K

Select item 19045017.

Redundant activities of Tfap2a and Tfap2c are required for neural crest induction and development of other non-neural ectoderm derivatives in zebrafish embryos

Wei Li, Robert Cornell

Dev Biol. Author manuscript; available in PMC 2008 Apr 1.

Published in final edited form as: Dev Biol. 2007 Apr 1; 304(1): 338–354. Published online 2006 Dec 23. doi: 10.1016/j.ydbio.2006.12.042

PMCID:: PMC1904501

Abstract Article PDF–1.9M

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