Publications by authors named "Robin M Winter"

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3
3D analysis of facial morphology.
Peter Hammond, Tim J Hutton, Judith E Allanson, Linda E Campbell, Raoul C M Hennekam, Robin M Winter

Am J Med Genet A· May 2004

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G protein-coupled receptor-dependent development of human frontal cortex.
Xianhua Piao, R Sean Hill, Adria Bodell, Bernard S Chang, Lina Basel-Vanagaite, Robin M Winter

Science· March 2004

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Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases.
H Annika Siitonen, Outi Kopra, Helena Kääriäinen, Henna Haravuori, Robin M Winter

Hum Mol Genet· November 2003

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The appearance of the feet in Pfeiffer syndrome caused by FGFR1 P252R mutation.
Massimiliano Rossi, Rachel L Jones, Gail Norbury, Agnès Bloch-Zupan, Robin M Winter

Clin Dysmorphol· October 2003

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Type 1 Arnold-Chiari malformation and Noonan syndrome. A new diagnostic feature?
Muriel Holder-Espinasse, Robin M Winter

Clin Dysmorphol· October 2003

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Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein.
Lesley McGregor, Ville Makela, Susan M Darling, Sofia Vrontou, Georges Chalepakis, Robin M Winter

Nat Genet· June 2003

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Different mutations in the NF1 gene are associated with Neurofibromatosis-Noonan syndrome (NFNS).
Diana Baralle, Chris Mattocks, Kamini Kalidas, Frances Elmslie, Joanne Whittaker, Robin M Winter

Am J Med Genet A· May 2003

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Bilateral frontoparietal polymicrogyria: clinical and radiological features in 10 families with linkage to chromosome 16.
Bernard S Chang, Xianhua Piao, Adria Bodell, Lina Basel-Vanagaite, Rachel Straussberg, Robin M Winter

Ann Neurol· May 2003

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Complex chromosomal rearrangement and associated counseling issues in a family with Pelizaeus-Merzbacher disease.
Karen Woodward, Maria Cundall, Rodger Palmer, Robert Surtees, Robin M Winter

Am J Med Genet A· April 2003

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Septo-optic dysplasia, subglottic stenosis and skeletal abnormalities: a case report.
Emma L Wakeling, Mehul T Dattani, A Bloch-Zupan, Robin M Winter, Susan E Holder

Clin Dysmorphol· April 2003

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Three craniosynostotic patients with tracheal sleeve.
Kazuki Okajima, Ichiro Aoki, Nobuyuki Sagehashi, Sue Malcolm, Robin M Winter

Clin Dysmorphol· January 2003

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Okihiro syndrome is caused by SALL4 mutations.
Jürgen Kohlhase, Marielle Heinrich, Lucia Schubert, Manuela Liebers, Andreas Kispert, Robin M Winter

Hum Mol Genet· November 2002

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Pseudodominant inheritance of Langer mesomelic dysplasia caused by a SHOX homeobox missense mutation.
Deborah J Shears, Encarna Guillen-Navarro, Manuel Sempere-Miralles, Rosario Domingo-Jimenez, Peter J Scambler, Robin M Winter

Am J Med Genet· June 2002

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A locus for bilateral perisylvian polymicrogyria maps to Xq28.
Laurent Villard, Karine Nguyen, Carlos Cardoso, Christa Lese Martin, Ann M Weiss, Robin M Winter

Am J Hum Genet· April 2002

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No evidence for submicroscopic 22qter deletions in patients with features suggestive for Angelman syndrome.
Bert B A de Vries, Jess Tyson, Robin M Winter, Sue Malcolm

Am J Med Genet· April 2002

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