259 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. Genome profiling of acute myelomonocytic leukemia: alteration of the MYB locus in MYST3-linked cases
6. Heterogeneous patterns of amplification of the NUP214-ABL1 fusion gene in T-cell acute lymphoblastic leukemia
7. The most frequent t(14;19)(q32;q13)-positive B-cell malignancy corresponds to an aggressive subgroup of atypical chronic lymphocytic leukemia
8. Acute myeloid leukaemia with 8p11 (MYST3) rearrangement: an integrated cytologic, cytogenetic and molecular study by the groupe francophone de cytogénétique hématologique
9. Hyperdiploid karyotypes in acute myeloid leukemia define a novel entity: a study of 38 patients from the Groupe Francophone de Cytogenetique Hematologique (GFCH)
10. Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability
11. Clinical, cytogenetic and molecular characteristics of 14 T-ALL patients carrying the TCRβ-HOXA rearrangement: a study of the Groupe Francophone de Cytogénétique Hématologique
12. NUP98 rearrangements in hematopoietic malignancies: a study of the Groupe Francophone de Cytogénétique Hématologique
13. Untreated growth hormone deficiency with extremely short stature, bone dysplasia, cleft lip–palate and severe mental retardation in a 26-year-old man with a de novo unbalanced translocation t(1;12)(q24;q24)
14. Fluorescence in situ hybridization analysis of 110 hematopoietic disorders with chromosome 5 abnormalities: do de novo and therapy-related myelodysplastic syndrome–acute myeloid leukemia actually differ?
15. Report of 34 patients with clonal chromosomal abnormalities in Philadelphia-negative cells during imatinib treatment of Philadelphia-positive chronic myeloid leukemia
16. t(5;14)/HOX11L2-positive T-cell acute lymphoblastic leukemia. A collaborative study of the Groupe Français de Cytogénétique Hématologique (GFCH)
17. MLL amplification in acute leukaemia: a United Kingdom Cancer Cytogenetics Group (UKCCG) study
18. Increase therapy-related leukemia secondary to breast cancer
19. What can we learn from old microdeletion syndromes using array-CGH screening?
20. Analyses of TET2 mutations in post-myeloproliferative neoplasm acute myeloid leukemias
21. Refining the critical region for congenital diaphragmatic hernia on chromosome 15q26 from the study of four fetuses
22. A prenatal case of inverted duplication with terminal deletion of 5p not including the cat-like cry critical region
23. Delineation of 15q13.3 microdeletions
24. Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speech
25. Ten novel 11q23 chromosomal partner sites
26. Prolonged remission and autologous recovery in two patients with chronic myelogenous leukemia after graft failure of allogeneic bone marrow transplantation
27. Immunophenotypic patterns and cytogenetic anomalies in acute non-lymphoblastic leukemia subtypes: a prospective study of 432 patients
28. Vertebral Defects As An Unusual Mode of Presentation of 22q11.2 Deletion
29. Contribution of array CGH in prognosis and genetic counselling of prenatally diagnosed supernumerary ring chromosome 20
30. Detection of an Interstitial 3q21.1-q21.3 Deletion in a Child With Multiple Congenital Abnormalities, Mental Retardation, Pancytopenia, and Myelodysplasia
31. Polymicrogyria in a Child With Inv Dup Del(9P) and 22Q11.2 Microduplication
32. Cytogenetic study of 75 erythroleukemias
33. 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
34. Fortuitous FISH Diagnosis of an Interstitial Microdeletion (5)(q31.1q31.2) in a Girl Suspected to Present a Cri-Du-Chat Syndrome
35. Syndromic encephalocele in a fetal case with a 1p35-pter deletion and a 14q32-qter duplication inherited from a maternal balanced translocation
36. Major Feeding Difficulties in the First Reported Case of Interstitial 20q11.22-q12 Microdeletion and Molecular Cytogenetic Characterization
37. Secondary acute promyelocytic leukemia following irinotecan and oxaliplatin for advanced colon cancer
38. Microcephaly Is Not Mandatory for the Diagnosis of Mosaic Variegated Aneuploidy Syndrome
39. X-linked recessive ichthyosis in a girl: strategy for identifying the causal mechanism
40. French multi-centric study of 2000 amniotic fluid interphase FISH analyses from high-risk pregnancies and review of the literature
41. Infrequent rearrangement of the STAT5b locus in primary human hematologic malignancies
42. Minimally differentiated acute myeloid leukemia (AML-M0) with lymphoid presentation at relapse: a case report
43. Cloacal extrophy in an infant with 9q34-qter deletion resulting from a de novo unbalanced tranlocation between chromosome 9q and Yq
44. Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling?
45. Les lésions spécifiques cutanées dans la leucémie myélomonocytaire chronique : un spectre de proliférations de cellules myélomonocytaires et dendritiques. Étude de 42 cas
46. Chromosomal abnormalities in acute myeloid leukaemias
47. Establishment and characterization of three transplantable EBV-containing nasopharyngeal carcinomas.
48. The Sole Presence of the Testis-Determining Region of the Y Chromosome (SRY) in 46, XX Patients Is Associated with Phenotγpic Variability.
49. Prenatal diagnosis of a partial trisomy 7q in two fetuses with bilateral ventriculomegaly.
50. Epidemiological characteristics of myelodysplastic syndrome in a well-defined French population.
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