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Journal of Child Neurology|March 29, 2006
Epilepsy and chromosomal rearrangements in Smith-Magenis Syndrome [del(17)(p11.2p11.2)]Alica M Goldman, Lorraine Potocki, Katherina Walz, et al.
American Journal of Medical Genetics. Part A|September 10, 2005
Trisomy 17p10-p12 due to mosaic supernumerary marker chromosome: delineation of molecular breakpoints and clinical phenotype, and comparison to other proximal 17p segmental duplicationsSvetlana A Yatsenko, Diane Treadwell-Deering, Kevin Krull, et al.
Journal of Child Neurology|January 11, 2008
Brain proton magnetic resonance spectroscopy and neuromuscular pathology in a patient with GM1 gangliosidosisNicola Brunetti-Pierri, Meenakshi B Bhattacharjee, Zhiyue J Wang, et al.
American Journal of Medical Genetics|October 12, 2002
Partial deletions of the long arm of chromosome 13 associated with holoprosencephaly and the Dandy-Walker malformationW Michael McCormack, Joseph J Shen, Stacey M Curry, et al.
Advances in Oto-Rhino-Laryngology|November 1, 2002
DFNB3, spectrum of MYO15A recessive mutant alleles and an emerging genotype-phenotype correlationThomas B Friedman, John T Hinnant, Manju Ghosh, et al.
American Journal of Medical Genetics. Part A|April 18, 2003
Partial deletions of the long arm of chromosome 13 associated with holoprosencephaly and the Dandy-Walker malformationW Michael McCormack, Joseph J Shen, Stacey M Curry, et al.
Journal of Genetic Counseling|May 28, 2013
Stress and well-being among parents of children with Potocki-Lupski syndromeRebecca D Carter, Marianna Raia, Linda Ewing-Cobbs, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 13, 2012
Cardiovascular findings in duplication 17p11.2 syndromeJohn L Jefferies, Ricardo H Pignatelli, Hugo R Martinez, et al.
Human Genetics|July 9, 2016
Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith-Magenis syndrome with evident peripheral neuropathyBo Yuan, Juanita Neira, Shen Gu, et al.
American Journal of Medical Genetics. Part A|February 9, 2010
Potocki-Shaffer syndrome: comprehensive clinical assessment, review of the literature, and proposals for medical managementDaniel T Swarr, Douglas Bloom, Richard Alan Lewis, et al.
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