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F Mugneret

29

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A prenatal case of inverted duplication with terminal deletion of 5p not including the cat‐like cry critical region

2011 American Journal of Medical Genetics Part A
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Cytogenetic and array-CGH characterization of a 6q27 deletion in a patient with developmental delay and features of Ehlers-Danlos syndrome.

2010 American Journal of Medical Genetics Part A
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Analyses of TET2 mutations in post-myeloproliferative neoplasm acute myeloid leukemias.

2010 Leukemia
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Polymicrogyria in a child with inv dup del(9p) and 22q11.2 microduplication.

2009 American Journal of Medical Genetics Part A
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Vertebral defects as an unusual mode of presentation of 22q11.2 deletion

2009 American Journal of Medical Genetics Part A
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Genomic Deletions of OFD1 Account for 23% of Oral-facial-digital Type 1 Syndrome After Negative

2008
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Array-CGH in a series of 30 patients with mental retardation, dysmorphic features, and congenital malformations detected an interstitial 1p22.2-p31.1 deletion in a patient with features overlapping the Goldenhar syndrome.

2008 American Journal of Medical Genetics Part A
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Secondary acute promyelocytic leukemia following irinotecan and oxaliplatin for advanced colon cancer

2006 Annals of Oncology
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Major feeding difficulties in the first reported case of interstitial 20q11.22-q12 microdeletion and molecular cytogenetic characterization.

2006 American Journal of Medical Genetics Part A
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Microcephaly is not mandatory for the diagnosis of mosaic variegated aneuploidy syndrome

2005 American Journal of Medical Genetics Part A
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Citations (31)