Concepedia

SHOX duplications found in some cases with type I Mayer-Rokitansky-Kuster-Hauser syndrome

Cristina Gervasini, Francesca Romana Grati, Faustina Lalatta, Silvia Tabano, Barbara Gentilin, Patrizia Colapietro, Simona De Toffol, Giada Frontino, F. Motta, Silvia Maitz,

Genetics in Medicine · 2010 · 75 citations · 36 references

DOI

Concepts

References

36

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

Jan P. Schouten · Nucleic Acids Research · 2002 · 2.7K citations · Full text

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A<i>WNT4</i>Mutation Associated with Müllerian-Duct Regression and Virilization in a 46,XX Woman

Anna Biason‐Lauber, Daniel Konrad, Francesca Navratil et al. · New England Journal of Medicine · 2004 · 449 citations · Full text

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The short stature homeobox gene SHOX is involved in skeletal abnormalities in Turner syndrome

Mark Clement-Jones · Human Molecular Genetics · 2000 · 428 citations · Full text

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A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear factor-1beta

Tom H. Lindner · Human Molecular Genetics · 1999 · 365 citations · Full text

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Gene dosage-dependent effects of the <i>Hoxa-13</i> and <i>Hoxd-13</i> mutations on morphogenesis of the terminal parts of the digestive and urogenital tracts

Xavier Warot, Catherine Fromental-Ramain, Valérie Fraulob et al. · Development · 1997 · 363 citations

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