340 results on '"Mugneret, F"'
Search Results
52. Prolonged remission and autologous recovery in two patients with chronic myelogenous leukemia after graft failure of allogeneic bone marrow transplantation
53. Ten novel 11q23 chromosomal partner sites. European 11q23 Workshop participants
54. Molecular characterization of 39 de novo sSMC : contribution to prognosis and genetic counselling, a prospective study
55. Les lésions spécifiques cutanées dans la leucémie myélomonocytaire chronique : un spectre de proliférations de cellules myélomonocytaires et dendritiques. Étude de 42 cas
56. Myotubular myopathy in a girl with a deletion at Xq27-q28 and unbalanced X inactivation assigns the MTM1 gene to a 600-kb region
57. NUP98is rearranged in 3.8% of pediatric AML forming a clinical and molecular homogenous group with a poor prognosis
58. What can we learn from old microdeletion syndromes using array-CGH screening?
59. The power of high-resolution non-targeted array-CGH in identifying intragenic rearrangements responsible for Cohen syndrome
60. EWSR1 (Ewing sarcoma region 1)
61. Twenty-five years of epidemiological recording on myeloid malignancies: data from the specialized registry of hematologic malignancies of Cote d'Or (Burgundy, France)
62. Cytogenetic and array-CGH characterization of a 6q27 deletion in a patient with developmental delay and features of Ehlers-Danlos syndrome
63. Molecular analysis of T-cell receptor transcripts in a human T-cell leukemia bearing a t(1;14) and an inv(7); cell surface expression of a TCR-beta chain in the absence of alpha chain
64. Hyperdiploid karyotypes in acute myeloid leukemia define a novel entity: a study of 38 patients from the Groupe Francophone de Cytogenetique Hematologique (GFCH)
65. HOX11L2/TLX3 is transcriptionally activated through T-cell regulatory elements downstream of BCL11B as a result of the t(5;14)(q35;q32)
66. Clinical, cytogenetic and molecular characteristics of 14 T-ALL patients carrying the TCRβ-HOXA rearrangement: a study of the Groupe Francophone de Cytogénétique Hématologique
67. 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.
68. Anomalies chromosomiques dans les leucémies aiguës myéloïdes
69. Translocation 1;19 in two brain tumors
70. LETTER TO THE EDITOR.DE NOVO INTERSTITIAL PROXIMAL DELETION OF 14q AND PRENATAL DIAGNOSIS OF HOLOPROSENCEPHALY
71. Epidemiological characteristics of myelodysplastic syndrome in a well-defined French population
72. Cytogénétique des syndromes myélodysplasiques
73. Translocation (21;22)(q22;q12) in a Ewing sarcoma: New case characterized by cytogenetic analysis and fluorescence in situ hybridization of a fresh tumor
74. A third tal-1 promoter is specifically used in human T cell leukemias.
75. The Sole Presence of the Testis-Determining Region of the Y Chromosome (SRY) in 46, XX Patients Is Associated with Phenotγpic Variability
76. Chromosomal abnormalities in acute myeloid leukaemias
77. Establishment and characterization of three transplantable EBV-containing nasopharyngeal carcinomas.
78. Cytogenetic and arrayCGH characterization of a 6q27 deletion in a patient with developmental delay and features of Ehlers–Danlos syndromeHow to cite this article: Mosca AL, Callier P, MasurelPaulet A, ThauvinRobinet C, Marle N, Nouchy M, Huet F, Dipanda D, De Paepe A, Coucke P, Mugneret F, Faivre L. 2010. Cytogenetic and arrayCGH characterization of a 6q27 deletion in a patient with developmental delay and features of Ehlers–Danlos Syndrome. Am J Med Genet Part A 152A:1314–1317.
79. Acute myeloid leukemia with hypergranular cytoplasm: a differential diagnosis of acute promyelocytic leukemia
80. Prenatal diagnosis of a partial trisomy 7q in two fetuses with bilateral ventriculomegaly.
81. LETTER TO THE EDITOR. DE NOVO INTERSTITIAL PROXIMAL DELETION OF 14q AND PRENATAL DIAGNOSIS OF HOLOPROSENCEPHALY.
82. Is the molecular rearrangement essential for Ewing sarcoma cell biology located on der(11) or der(22) ? Hypothesis from cytogenetics
83. Chromosomal studies in a series of 13 liposarcomas. Del(6)(q14q24) as non random secondary change associated with mixoid subtype
84. Jumping translocation in a solitary benign lipoma case
85. Translocation t(6;22)(p22;q12) in malignant clear cell hidradenoma (sweat gland carcinoma)
86. New case of benign lipoma with t(2;12)(p23;q14): Chromosome band 2p21–p23 is a site of nonrandom rearrangement
87. Isolated isochromosomes i(X)(p10) and idic(X)(q13) are associated with myeloid malignancies and dysplastic features.
88. Pregnancy outcomes in prenatally diagnosed 47, XXX and 47, XYY syndromes: a 30-year French, retrospective, multicentre study.
89. A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability.
90. Genetic differences between paediatric and adult Burkitt lymphomas.
91. Delineation of the 3p14.1p13 microdeletion associated with syndromic distal limb contractures.
92. 14q deletions are associated with trisomy 12, NOTCH1 mutations and unmutated IGHV genes in chronic lymphocytic leukemia and small lymphocytic lymphoma.
93. Development of primary early-onset colorectal cancers due to biallelic mutations of the FANCD1/BRCA2 gene.
94. 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.
95. 3q27.3 microdeletional syndrome: a recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psychosis with mood disorder.
96. Delineation of a new chromosome 20q11.2 duplication syndrome including the ASXL1 gene.
97. Additional evidence to support the role of the 20q13.33 region in susceptibility to autism.
98. The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients.
99. Chromosomal translocations involving the IGH@ locus in B-cell precursor acute lymphoblastic leukemia: 29 new cases and a review of the literature.
100. Chromosomal aberrations and their prognostic value in a series of 174 untreated patients with Waldenström's macroglobulinemia.
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