Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome

Autor: Christopher R. McMaster, Makoto Matsuoka, Lysanne Patry, Cheri Deal, Jean Paquette, Sandhya Parkash, Christine Macgillivray, Jacques L. Michaud, Mark Ludman, Mathew Nightingale, Susan C. Evans, Haiyan Jiang, Duane L. Guernsey, Marissa A. LeBlanc, Duane W Superneau, David Skidmore, Mark E. Samuels, Aidan Thomas, Sylvie Langlois, Andrew C. Orr, Scott Perry, Andrea L. Rideout, Meghan Ferguson

Publikováno v: Nature Genetics. 43:360-364

Meier-Gorlin syndrome is a rare autosomal recessive genetic condition whose primary clinical hallmarks include small stature, small external ears and small or absent patellae. Using marker-assisted mapping in multiple families from a founder populati

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b2ec26314501776616d9aa8f59ac697
https://doi.org/10.1038/ng.777

Clinical and behavioral characteristics in FG syndrome

Autor: Elisabeth M. Dykens, Ken Corning, R. Curtis Rogers, Duane W. Superneau, Charles E. Schwartz, John M. Graham

Publikováno v: American Journal of Medical Genetics. 85:470-475

FG syndrome is a rare X-linked recessive form of mental retardation, first described by Opitz and Kaveggia in 1974. Based on over 50 reported cases, FG syndrome is associated with agenesis of the corpus callosum, minor facial anomalies (high, broad f

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::865737d66b14eba6c744d04264a0c691
https://doi.org/10.1002/(sici)1096-8628(19990827)85:5<470::aid-ajmg7>3.0.co

Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation

Autor: Syd Barthorpe, Mark A. Corbett, George Hoganson, Doug A. Brooks, John Teague, Richard Wooster, Claire Stevens, Charles E. Schwartz, Janet Perry, Jennifer Varian, Jennifer Cole, Sarah Edkins, P. Andrew Futreal, John P. Warner, Jayson Rodriguez, David S. Richardson, Anand Srivastava, Paul Q. Thomas, Jenny Moon, Gillian Turner, F. Lucy Raymond, Cheryl Shoubridge, Michael R. Stratton, Duane W Superneau, Andrew Menzies, Patrick S. Tarpey, Adam Butler, Lam Son Nguyen, Raffaella Smith, Martin Bobrow, Sofie West, Pauline Pearson, Tracy Sanderson, Sarah O’Meara, Katy Hills, Emma J. Parkinson-Lawrence, Jozef Gecz, Andrew M. Jenkinson, Rebecca Shepherd, Gemma Buck, Alison Gardner, Kelly Halliday, Josep Parnau, Anna Hackett, Keiran Raine, Richard J. Simensen, Sara Widaa, Cindy Skinner, Calli Tofts, Mary Porteous, Roger E. Stevenson, Tatiana Mironenko, Shambhu Bhat, David T. Jones, Lucianne Vandeleur, Ed Dicks, Yin Luo

Nonsense-mediated mRNA decay (NMD) is of universal biological significance1-3. It has emerged as an important global RNA, DNA and translation regulatory pathway4. By systematically sequencing 737 genes (annotated in the Vertebrate Genome Annotation d

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2fbdc66e723f0bfd983aba61027bf26
https://hdl.handle.net/1959.8/48618

Meier-Gorlin syndrome: report of eight additional cases and review

Autor: Raoul C.M. Hennekam, B.C.J. Hamel, Duane W. Superneau, John M. Opitz, Pierre Sarda, Ernie M.H.F. Bongers, Bryan D. Hall, A Poss, Nine V A M Knoers, H Van Bokhoven, Alan Fryer, M Harbison

Publikováno v: American journal of medical genetics, 102(2), 115-124. Wiley-Liss Inc.
American Journal of Medical Genetics, 102, 2, pp. 115--24
American Journal of Medical Genetics, 102, 115--24

Item does not contain fulltext The Meier-Gorlin syndrome or ear, patella, short stature syndrome (MIM 224690) is a rare autosomal recessive disorder, characterized by the association of bilateral microtia, aplasia/hypoplasia of the patellae, and seve

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2c4902f6748ea3c1b6909fe5ff12f894
https://pubmed.ncbi.nlm.nih.gov/11992493

Sagittal craniosynostosis, Dandy-Walker malformation, and hydrocephalus: a unique multiple malformation syndrome

Autor: Stephen R. Braddock, Marilyn C. Jones, Kenneth L. Jones, Duane W. Superneau

Publikováno v: American journal of medical genetics. 47(5)

The Dandy-Walker malformation and craniosynostosis have each been described as isolated occurrences and as components of multiple malformation syndromes. The purpose of this report is to delineate the characteristics of a multiple malformation syndro

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2691be06525937d2e65957d3d4ad0782
https://pubmed.ncbi.nlm.nih.gov/8266990