Concepedia

Private inherited microdeletion/microduplications: Implications in clinical practice

Maria Antonietta Mencarelli, Eleni Katzaki, Filomena Tiziana Papa, Katia Sampieri, Rossella Caselli, Vera Uliana, Marzia Pollazzon, Roberto Canitano, Rosa Mostardini, Salvatore Grosso,

European Journal of Medical Genetics · 2008 · 107 citations · 13 references

DOI

Concepts

References

13

Complex Inheritance Pattern Resembling Autosomal Recessive Inheritance Involving a Microdeletion in Thrombocytopenia–Absent Radius Syndrome

Eva Klopocki, Harald Schulze, Gabriele Strauß et al. · The American Journal of Human Genetics · 2007 · 369 citations · Full text

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Recurrent Reciprocal Genomic Rearrangements of 17q12 Are Associated with Renal Disease, Diabetes, and Epilepsy

Heather C. Mefford, Séverine Clauin, Andrew J. Sharp et al. · The American Journal of Human Genetics · 2007 · 268 citations

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Defining the Clinical Spectrum of Deletion 22q11.2

Nathaniel H. Robin, Robert J. Shprintzen · The Journal of Pediatrics · 2005 · 243 citations

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Detection of pathogenic gene copy number variations in patients with mental retardation by genomewide oligonucleotide array comparative genomic hybridization

Yao‐Shan Fan, Parul Jayakar, Hongbo Zhu et al. · Human Mutation · 2007 · 124 citations

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Etiology of Mental Retardation in Children Referred to a Tertiary Care Center: A Prospective Study

Clara van Karnebeek, Frederike Y. Scheper, N. G. G. M. Abeling et al. · American Journal on Mental Retardation · 2005 · 109 citations

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