PMC Links for Books (Select 1461558) - PMC

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

Article PDF–960K

Select item 45364596.

Loading of PAX3 to Mitotic Chromosomes Is Mediated by Arginine Methylation and Associated with Waardenburg Syndrome

Tsu-Fang Wu, Ya-Li Yao, I-Lu Lai, Chien-Chen Lai, Pei-Lun Lin, Wen-Ming Yang

J Biol Chem. 2015 Aug 14; 290(33): 20556–20564. Published online 2015 Jul 6. doi: 10.1074/jbc.M114.607713

PMCID:: PMC4536459

Article PDF–2.6M

Select item 45141067.

Pax genes in embryogenesis and oncogenesis

Qiuyu Wang, Wen-Hui Fang, Jerzy Krupinski, Shant Kumar, Mark Slevin, Patricia Kumar

J Cell Mol Med. 2008 Dec; 12(6a): 2281–2294. Published online 2008 Jul 8. doi: 10.1111/j.1582-4934.2008.00427.x

PMCID:: PMC4514106

Article PDF–988K

Select item 38067538.

Genetic and Phenotypic Heterogeneity in Chinese Patients with Waardenburg Syndrome Type II

Shuzhi Yang, Pu Dai, Xin Liu, Dongyang Kang, Xin Zhang, Weiyan Yang, Chengyong Zhou, Shiming Yang, Huijun Yuan

PLoS One. 2013; 8(10): e77149. Published online 2013 Oct 23. doi: 10.1371/journal.pone.0077149

PMCID:: PMC3806753

Article PDF–975K

Select item 36127899.

Spectrum of novel mutations found in Waardenburg syndrome types 1 and 2: implications for molecular genetic diagnostics

Gabriele Wildhardt, Birgit Zirn, Luitgard M Graul-Neumann, Juliane Wechtenbruch, Markus Suckfüll, Annegret Buske, Axel Bohring, Christian Kubisch, Stefanie Vogt, Gertrud Strobl-Wildemann, Marie Greally, Oliver Bartsch, Daniela Steinberger

BMJ Open. 2013; 3(3): e001917. Published online 2013 Mar 18. doi: 10.1136/bmjopen-2012-001917

PMCID:: PMC3612789

Article PDF–908K

Select item 168258510.

Waardenberg syndrome (WS) type I is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: First report of the WS consortium

Lindsay A. Farrer, Kenneth M. Grundfast, Jean Amos, Kathleen S. Arnos, James H. Asher, Peter Beighton, Scott R. Diehl, Jörgen Fex, Carole Foy, Thomas B. Friedman, Jacquie Greenberg, Christopher Hoth, Mary Marazita, Aubrey Milunsky, Robert Morell, Walter Nance, Valerie Newton, Rajkumar Ramesar, Theresa B. San Agustin, James Skare, Cathy A. Stevens, Ronald G. Wagner, Edward R. Wilcox, Ingrid Winship, Andrew P. Read

Am J Hum Genet. 1992 May; 50(5): 902–913.

PMCID:: PMC1682585

Summary Page Browse PDF–1.6M

Select item 168215711.

Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I).

C F Hoth, A Milunsky, N Lipsky, R Sheffer, S K Clarren, C T Baldwin

Am J Hum Genet. 1993 Mar; 52(3): 455–462.

PMCID:: PMC1682157

Summary Page Browse PDF–1.5M

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