165 results on '"Mugneret, F"'
Search Results
2. Homozygous Truncating Intragenic Duplication in TUSC3 Responsible for Rare Autosomal Recessive Nonsyndromic Intellectual Disability with No Clinical or Biochemical Metabolic Markers
3. Molecular characterization of 39 de novo sSMC: contribution to prognosis and genetic counselling, a prospective study
4. Genome profiling of acute myelomonocytic leukemia: alteration of the MYB locus in MYST3-linked cases
5. Heterogeneous patterns of amplification of the NUP214-ABL1 fusion gene in T-cell acute lymphoblastic leukemia
6. The most frequent t(14;19)(q32;q13)-positive B-cell malignancy corresponds to an aggressive subgroup of atypical chronic lymphocytic leukemia
7. Acute myeloid leukaemia with 8p11 (MYST3) rearrangement: an integrated cytologic, cytogenetic and molecular study by the groupe francophone de cytogénétique hématologique
8. Hyperdiploid karyotypes in acute myeloid leukemia define a novel entity: a study of 38 patients from the Groupe Francophone de Cytogenetique Hematologique (GFCH)
9. Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability
10. Clinical, cytogenetic and molecular characteristics of 14 T-ALL patients carrying the TCRβ-HOXA rearrangement: a study of the Groupe Francophone de Cytogénétique Hématologique
11. NUP98 rearrangements in hematopoietic malignancies: a study of the Groupe Francophone de Cytogénétique Hématologique
12. 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)
13. Report of 34 patients with clonal chromosomal abnormalities in Philadelphia-negative cells during imatinib treatment of Philadelphia-positive chronic myeloid leukemia
14. t(5;14)/HOX11L2-positive T-cell acute lymphoblastic leukemia. A collaborative study of the Groupe Français de Cytogénétique Hématologique (GFCH)
15. MLL amplification in acute leukaemia: a United Kingdom Cancer Cytogenetics Group (UKCCG) study
16. Increase therapy-related leukemia secondary to breast cancer
17. What can we learn from old microdeletion syndromes using array-CGH screening?
18. Analyses of TET2 mutations in post-myeloproliferative neoplasm acute myeloid leukemias
19. Delineation of 15q13.3 microdeletions
20. Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speech
21. Ten novel 11q23 chromosomal partner sites
22. Immunophenotypic patterns and cytogenetic anomalies in acute non-lymphoblastic leukemia subtypes: a prospective study of 432 patients
23. Secondary acute promyelocytic leukemia following irinotecan and oxaliplatin for advanced colon cancer
24. Infrequent rearrangement of the STAT5b locus in primary human hematologic malignancies
25. Minimally differentiated acute myeloid leukemia (AML-M0) with lymphoid presentation at relapse: a case report
26. Xq28 duplication includingMECP2in six unreported affected females: what can we learn for diagnosis and genetic counselling?
27. NUP98 is rearranged in 3.8% of pediatric AML forming a clinical and molecular homogenous group with a poor prognosis
28. Cloacal extrophy in an infant with 9q34-qter deletion resulting from a de novo unbalanced tranlocation between chromosome 9q and Yq
29. Maternally inherited duplication of the possible imprinted 14q31 region
30. Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling?
31. Prolonged remission and autologous recovery in two patients with chronic myelogenous leukemia after graft failure of allogeneic bone marrow transplantation
32. Molecular characterization of 39 de novo sSMC : contribution to prognosis and genetic counselling, a prospective study
33. Myotubular myopathy in a girl with a deletion at Xq27-q28 and unbalanced X inactivation assigns the MTM1 gene to a 600-kb region
34. NUP98is rearranged in 3.8% of pediatric AML forming a clinical and molecular homogenous group with a poor prognosis
35. What can we learn from old microdeletion syndromes using array-CGH screening?
36. The power of high-resolution non-targeted array-CGH in identifying intragenic rearrangements responsible for Cohen syndrome
37. Twenty-five years of epidemiological recording on myeloid malignancies: data from the specialized registry of hematologic malignancies of Cote d'Or (Burgundy, France)
38. Hyperdiploid karyotypes in acute myeloid leukemia define a novel entity: a study of 38 patients from the Groupe Francophone de Cytogenetique Hematologique (GFCH)
39. HOX11L2/TLX3 is transcriptionally activated through T-cell regulatory elements downstream of BCL11B as a result of the t(5;14)(q35;q32)
40. Clinical, cytogenetic and molecular characteristics of 14 T-ALL patients carrying the TCRβ-HOXA rearrangement: a study of the Groupe Francophone de Cytogénétique Hématologique
41. Cytogenetic Abnormalities in B-CLL at Binet Stage A: Overview in a Cohort of 484 Untreated Patients and Relations with the ZAP-70 and IgVH Mutation Status.
42. Epidemiological characteristics of myelodysplastic syndrome in a well-defined French population
43. A third tal-1 promoter is specifically used in human T cell leukemias.
44. Isolated isochromosomes i(X)(p10) and idic(X)(q13) are associated with myeloid malignancies and dysplastic features.
45. A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability.
46. Homozygous Truncating Intragenic Duplication in TUSC3 Responsible for Rare Autosomal Recessive Nonsyndromic Intellectual Disability with No Clinical or Biochemical Metabolic Markers.
47. Development of primary early-onset colorectal cancers due to biallelic mutations of the FANCD1/BRCA2 gene.
48. Loss of function mutation in the palmitoyl-transferase HHAT leads to syndromic 46,XY disorder of sex development by impeding Hedgehog protein palmitoylation and signaling.
49. 3q27.3 microdeletional syndrome: a recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psychosis with mood disorder.
50. The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients.
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