Concepedia

Peters Plus Syndrome Is Caused by Mutations in B3GALTL, a Putative Glycosyltransferase

Saskia A.J. Lesnik Oberstein, Marjolein Kriek, Stefan J. White, M.E. Kalf, Károly Szuhai, Johan T. den Dunnen, Martijn H. Breuning, Raoul C. M. Hennekam

The American Journal of Human Genetics · 2006 · 203 citations · 10 references

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10

Spectrum of Mutations in BRCA1, BRCA2, CHEK2, and TP53 in Families at High Risk of Breast Cancer

Tom Walsh, Silvia Casadei, Kathryn Hale Coats et al. · JAMA · 2006 · 666 citations

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<i>POMT2</i> mutations cause α-dystroglycan hypoglycosylation and Walker-Warburg syndrome

J. van Reeuwijk · Journal of Medical Genetics · 2005 · 417 citations · Full text

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Congenital disorders of glycosylation (CDG): It's all in it!

Jaak Jaeken · Journal of Inherited Metabolic Disease · 2003 · 142 citations

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The INSL3-LGR8/GREAT Ligand-Receptor Pair in Human Cryptorchidism

Alberto Ferlin, Mauro Simonato, Lucia Bartoloni et al. · The Journal of Clinical Endocrinology & Metabolism · 2003 · 135 citations · Full text

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Two-Step Differential Expression Analysis Reveals a New Set of Genes Involved in Thyroid Oncocytic Tumors

Caroline Jacques, Olivier R. Baris, Delphine Prunier‐Mirebeau et al. · The Journal of Clinical Endocrinology & Metabolism · 2005 · 106 citations

, , +17