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    Véronique Pingault, Dorothée Ente, Florence Dastot-Le Moal, Michel Goossens, Sandrine Marlin, Nadège Bondurand, Review and update of mutations causing Waardenburg syndrome, Human Mutation, 2010, 31, 4
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    Jeremy D. Bowyer, Timothy J. Sullivan, Management of Marcus Gunn Jaw Winking Synkinesis, Ophthalmic Plastic & Reconstructive Surgery, 2004, 20, 2, 92

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    Véronique Pingault, Nadège Bondurand, Kirsten Kuhlbrodt, Derk E. Goerich, Marie-Odette Préhu, Aldamaria Puliti, Beate Herbarth, Irm Hermans-Borgmeyer, Eric Legius, Gert Matthijs, Jeanne Amiel, Stanislas Lyonnet, Isabella Ceccherini, Giovanni Romeo, Jill Clayton Smith, Andrew P. Read, Michael Wegner, Michel Goossens, SOX10 mutations in patients with Waardenburg-Hirschsprung disease, Nature Genetics, 1998, 18, 2, 171

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    G. Martucciello, Hirschsprung's disease as a neurochristopathy, Pediatric Surgery International, 1997, 12, 1, 2

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    Akio Mizushima, Ken'ichiro Nitami, Toshihiro Kikuchi, Toyoki Kugimiya, Toshiki Ohya, Takeshi Miyano, Anesthetic problems in a child with Waardenburg's syndrome and Hirschsprung's disease, Journal of Anesthesia, 1996, 10, 2, 144

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    Ségolène Aymé, Nicole Philip, Possible homozygous Waardenburg syndrome in a fetus with exencephaly, American Journal of Medical Genetics, 1995, 59, 2
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    Xue-Zhong Liu, Valerie E. Newton, Andrew P. Read, Waardenburg syndrome type II: Phenotypic findings and diagnostic criteria, American Journal of Medical Genetics, 1995, 55, 1
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    Eleanor Dow, Sean Cross, Debra J. Wolgemuth, Stanislas Lyonnet, Lois M. Mulligan, Maria Mascari, Roger Ladda, Robert Williamson, Second locus for Hirschsprung disease/Waardenburg syndrome in a large Mennonite kindred, American Journal of Medical Genetics, 1994, 53, 1
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    Elias O. Da-Silva, Waardenburg I syndrome: A clinical and genetic study of two large Brazilian kindreds, and literature review, American Journal of Medical Genetics, 1991, 40, 1
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    Paige Kaplan, Jean-Pierre De Chaderévian, John M. Opitz, James F. Reynolds, Piebaldism-Waardenburg syndrome: Histopathologic evidence for a neural crest syndrome, American Journal of Medical Genetics, 1988, 31, 3