31 results on '"Mugneret, F"'
Search Results
2. Pregnancy outcomes of prenatally diagnosed Turner syndrome: a French multicenter retrospective study including a series of 975 cases
3. A French collaborative survey of 272 fetuses with 22q11.2 deletion: ultrasound findings, fetal autopsies and pregnancy outcomes
4. Molecular characterization of 39 de novo sSMC: contribution to prognosis and genetic counselling, a prospective study
5. Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability
6. What can we learn from old microdeletion syndromes using array-CGH screening?
7. Refining the critical region for congenital diaphragmatic hernia on chromosome 15q26 from the study of four fetuses
8. A prenatal case of inverted duplication with terminal deletion of 5p not including the cat-like cry critical region
9. Delineation of 15q13.3 microdeletions
10. Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speech
11. Analyses of TET2 mutations in post-myeloproliferative neoplasm acute myeloid leukemias
12. Vertebral Defects As An Unusual Mode of Presentation of 22q11.2 Deletion
13. Contribution of array CGH in prognosis and genetic counselling of prenatally diagnosed supernumerary ring chromosome 20
14. Detection of an Interstitial 3q21.1-q21.3 Deletion in a Child With Multiple Congenital Abnormalities, Mental Retardation, Pancytopenia, and Myelodysplasia
15. Polymicrogyria in a Child With Inv Dup Del(9P) and 22Q11.2 Microduplication
16. Heterogeneous patterns of amplification of the NUP214-ABL1 fusion gene in T-cell acute lymphoblastic leukemia
17. Genome profiling of acute myelomonocytic leukemia: alteration of the MYB locus in MYST3-linked cases
18. The most frequent t(14;19)(q32;q13)-positive B-cell malignancy corresponds to an aggressive subgroup of atypical chronic lymphocytic leukemia
19. 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
20. Acute myeloid leukaemia with 8p11 (MYST3) rearrangement: an integrated cytologic, cytogenetic and molecular study by the groupe francophone de cytogénétique hématologique
21. Hyperdiploid karyotypes in acute myeloid leukemia define a novel entity: a study of 38 patients from the Groupe Francophone de Cytogenetique Hematologique (GFCH)
22. Fortuitous FISH Diagnosis of an Interstitial Microdeletion (5)(q31.1q31.2) in a Girl Suspected to Present a Cri-Du-Chat Syndrome
23. Syndromic encephalocele in a fetal case with a 1p35-pter deletion and a 14q32-qter duplication inherited from a maternal balanced translocation
24. Clinical, cytogenetic and molecular characteristics of 14 T-ALL patients carrying the TCRβ-HOXA rearrangement: a study of the Groupe Francophone de Cytogénétique Hématologique
25. Major Feeding Difficulties in the First Reported Case of Interstitial 20q11.22-q12 Microdeletion and Molecular Cytogenetic Characterization
26. Secondary acute promyelocytic leukemia following irinotecan and oxaliplatin for advanced colon cancer
27. NUP98 rearrangements in hematopoietic malignancies: a study of the Groupe Francophone de Cytogénétique Hématologique
28. Microcephaly Is Not Mandatory for the Diagnosis of Mosaic Variegated Aneuploidy Syndrome
29. X-linked recessive ichthyosis in a girl: strategy for identifying the causal mechanism
30. Report of 34 patients with clonal chromosomal abnormalities in Philadelphia-negative cells during imatinib treatment of Philadelphia-positive chronic myeloid leukemia
31. t(5;14)/HOX11L2-positive T-cell acute lymphoblastic leukemia. A collaborative study of the Groupe Français de Cytogénétique Hématologique (GFCH)
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