346 results on '"Mugneret F"'
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2. NUP98 is rearranged in 3.8% of pediatric AML forming a clinical and molecular homogenous group with a poor prognosis
3. Pregnancy outcomes of prenatally diagnosed Turner syndrome: a French multicenter retrospective study including a series of 975 cases
4. Homozygous Truncating Intragenic Duplication in TUSC3 Responsible for Rare Autosomal Recessive Nonsyndromic Intellectual Disability with No Clinical or Biochemical Metabolic Markers
5. A French collaborative survey of 272 fetuses with 22q11.2 deletion: ultrasound findings, fetal autopsies and pregnancy outcomes
6. Molecular characterization of 39 de novo sSMC: contribution to prognosis and genetic counselling, a prospective study
7. Genome profiling of acute myelomonocytic leukemia: alteration of the MYB locus in MYST3-linked cases
8. Heterogeneous patterns of amplification of the NUP214-ABL1 fusion gene in T-cell acute lymphoblastic leukemia
9. The most frequent t(14;19)(q32;q13)-positive B-cell malignancy corresponds to an aggressive subgroup of atypical chronic lymphocytic leukemia
10. Acute myeloid leukaemia with 8p11 (MYST3) rearrangement: an integrated cytologic, cytogenetic and molecular study by the groupe francophone de cytogénétique hématologique
11. Hyperdiploid karyotypes in acute myeloid leukemia define a novel entity: a study of 38 patients from the Groupe Francophone de Cytogenetique Hematologique (GFCH)
12. Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability
13. Clinical, cytogenetic and molecular characteristics of 14 T-ALL patients carrying the TCRβ-HOXA rearrangement: a study of the Groupe Francophone de Cytogénétique Hématologique
14. NUP98 rearrangements in hematopoietic malignancies: a study of the Groupe Francophone de Cytogénétique Hématologique
15. 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)
16. 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?
17. Report of 34 patients with clonal chromosomal abnormalities in Philadelphia-negative cells during imatinib treatment of Philadelphia-positive chronic myeloid leukemia
18. t(5;14)/HOX11L2-positive T-cell acute lymphoblastic leukemia. A collaborative study of the Groupe Français de Cytogénétique Hématologique (GFCH)
19. MLL amplification in acute leukaemia: a United Kingdom Cancer Cytogenetics Group (UKCCG) study
20. Increase therapy-related leukemia secondary to breast cancer
21. What can we learn from old microdeletion syndromes using array-CGH screening?
22. Analyses of TET2 mutations in post-myeloproliferative neoplasm acute myeloid leukemias
23. Refining the critical region for congenital diaphragmatic hernia on chromosome 15q26 from the study of four fetuses
24. A prenatal case of inverted duplication with terminal deletion of 5p not including the cat-like cry critical region
25. Delineation of 15q13.3 microdeletions
26. Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speech
27. Ten novel 11q23 chromosomal partner sites
28. Prolonged remission and autologous recovery in two patients with chronic myelogenous leukemia after graft failure of allogeneic bone marrow transplantation
29. Immunophenotypic patterns and cytogenetic anomalies in acute non-lymphoblastic leukemia subtypes: a prospective study of 432 patients
30. Vertebral Defects As An Unusual Mode of Presentation of 22q11.2 Deletion
31. Contribution of array CGH in prognosis and genetic counselling of prenatally diagnosed supernumerary ring chromosome 20
32. Detection of an Interstitial 3q21.1-q21.3 Deletion in a Child With Multiple Congenital Abnormalities, Mental Retardation, Pancytopenia, and Myelodysplasia
33. Polymicrogyria in a Child With Inv Dup Del(9P) and 22Q11.2 Microduplication
34. Cytogenetic study of 75 erythroleukemias
35. 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
36. Fortuitous FISH Diagnosis of an Interstitial Microdeletion (5)(q31.1q31.2) in a Girl Suspected to Present a Cri-Du-Chat Syndrome
37. Syndromic encephalocele in a fetal case with a 1p35-pter deletion and a 14q32-qter duplication inherited from a maternal balanced translocation
38. Major Feeding Difficulties in the First Reported Case of Interstitial 20q11.22-q12 Microdeletion and Molecular Cytogenetic Characterization
39. Secondary acute promyelocytic leukemia following irinotecan and oxaliplatin for advanced colon cancer
40. Microcephaly Is Not Mandatory for the Diagnosis of Mosaic Variegated Aneuploidy Syndrome
41. X-linked recessive ichthyosis in a girl: strategy for identifying the causal mechanism
42. French multi-centric study of 2000 amniotic fluid interphase FISH analyses from high-risk pregnancies and review of the literature
43. Infrequent rearrangement of the STAT5b locus in primary human hematologic malignancies
44. Minimally differentiated acute myeloid leukemia (AML-M0) with lymphoid presentation at relapse: a case report
45. Xq28 duplication includingMECP2in six unreported affected females: what can we learn for diagnosis and genetic counselling?
46. Cloacal extrophy in an infant with 9q34-qter deletion resulting from a de novo unbalanced tranlocation between chromosome 9q and Yq
47. Maternally inherited duplication of the possible imprinted 14q31 region
48. NUP98 is rearranged in 3.8% of pediatric AML forming a clinical and molecular homogenous group with a poor prognosis
49. 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
50. Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling?
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