20 results on '"Mugneret, F"'
Search Results
2. Cytogenetic and array-CGH characterization of a 6q27 deletion in a patient with developmental delay and features of Ehlers-Danlos syndrome
3. Vertebral defects as an unusual mode of presentation of 22q11.2 deletion
4. Detection of an interstitial 3q21.1-q21.3 deletion in a child with multiple congenital abnormalities, mental retardation, pancytopenia, and myelodysplasia
5. Polymicrogyria in a child with inv dup del(9p) and 22q11.2 microduplication
6. 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
7. Fortuitous FISH diagnosis of an interstitial microdeletion (5)(q31.1q31.2) in a girl suspected to present a cri-du-chat syndrome
8. Major feeding difficulties in the first reported case of interstitial 20q11.22-q12 microdeletion and molecular cytogenetic characterization
9. Microcephaly is not mandatory for the diagnosis of mosaic variegated aneuploidy syndrome
10. Delineation of the 3p14.1p13 microdeletion associated with syndromic distal limb contractures.
11. Delineation of a new chromosome 20q11.2 duplication syndrome including the ASXL1 gene.
12. Additional evidence to support the role of the 20q13.33 region in susceptibility to autism.
13. De Novo 21q22.1q22.2 deletion including RUNX1 mimicking a congenital infection.
14. Search for genomic imbalances in a cohort of 20 patients with oral-facial-digital syndromes negative for mutations and large rearrangements in the OFD1 gene.
15. Multiple cysts of the corpus callosum and psychomotor delay in a patient with a 3.1 Mb 15q24.1q24.2 interstitial deletion identified by array-CGH.
16. Two cases of mosaicism for complex chromosome rearrangements (CCRM) associated with secondary infertility.
17. A new cohort of MECP2 mutation screening in unexplained mental retardation: careful re-evaluation is the best indicator for molecular diagnosis.
18. Recurrence of SOX2 anophthalmia syndrome with gonosomal mosaicism in a phenotypically normal mother.
19. Unique survival in chrondrodysplasia-hermaphrodism syndrome.
20. Cloacal exstrophy in an infant with 9q34.1-qter deletion resulting from a de novo unbalanced translocation between chromosome 9q and Yq.
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