J. Grosgeorge

Publications33
h-index18
Citations3,435
Highly Influential Citations155
Claim Author Page
Author pages are created from data sourced from our academic publisher partnerships and public sources.

Recommended Authors

  • P. Gaudray
  • 121 Publications, 3,907 Citations
  • B. Bardoni
  • 104 Publications, 8,643 Citations
  • E. Eichler
  • 561 Publications, 112,496 Citations
  • C. Turc‐Carel
  • 113 Publications, 6,964 Citations
  • Publications
  • Influence
Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy
Optic atrophy type 1 (OPA1, MIM 165500) is a dominantly inherited optic neuropathy occurring in 1 in 50,000 individuals that features progressive loss in visual acuity leading, in many cases, to… Expand
  • 1,244
  • 66
Fusion of TEL, the ETS-variant gene 6 (ETV6), to the receptor-associated kinase JAK2 as a result of t(9;12) in a lymphoid and t(9;15;12) in a myeloid leukemia.
Translocations in hematologic disease of myeloid or lymphoid origin with breakpoints at chromosome band 12p13 frequently result in rearrangements of the Ets variant gene 6 (ETV6). As a consequence… Expand
  • 519
  • 29
  • PDF
Deregulation of the platelet-derived growth factor β-chain gene via fusion with collagen gene COL1A1 in dermatof ibrosarcoma protuberans and giant-cell fibroblastoma
Dermatofibrosarcoma protuberans (DP), an infiltrative skin tumour of intermediate malignancy1, presents specific features such as reciprocal translocations t(17;22)(q22;q13) and supernumerary ring… Expand
  • 460
  • 21
The 12;21 translocation involving TEL and deletion of the other TEL allele: two frequently associated alterations found in childhood acute lymphoblastic leukemia.
A recurrent t(12;21)(p13;q22) has recently been described in human acute lymphoblastic leukemias (ALLs). This translocation fuses TEL and AML1, two genes previously cloned from translocation… Expand
  • 250
  • 11
  • PDF
The gene encoding the mouse homologue of the human osteoclast-specific 116-kDa V-ATPase subunit bears a deletion in osteosclerotic (oc/oc) mutants.
Osteosclerosis (oc) is an autosomal recessive lethal mutation that impairs bone resorption by osteoclasts, and induces a general increase of bone density in affected mice. Genetic mapping of the oc… Expand
  • 184
  • 9
  • PDF
Detailed map of a region commonly amplified at 11q13-->q14 in human breast carcinoma.
Amplification of loci present on band q13 of human chromosome 11 is a feature of a subset of estrogen receptor positive breast carcinomas prone to metastasis. As many as five distinct amplification… Expand
  • 160
  • 5
Comparative genomic hybridization reveals novel chromosome deletions in 90 primary soft tissue tumors.
Comparative genomic hybridization (CGH) was used to detect chromosomal gains and losses in a series of 90 frozen soft tissue primary tumors (STTs), all untreated. The material consisted of 69… Expand
  • 46
  • 3
Fragile X related protein 1 isoforms differentially modulate the affinity of fragile X mental retardation protein for G-quartet RNA structure
Fragile X syndrome, the most frequent form of inherited mental retardation, is due to the absence of expression of the Fragile X Mental Retardation Protein (FMRP), an RNA binding protein with high… Expand
  • 53
  • 2
  • PDF
Expanded range of 11q13 breakpoints with differing patterns of cyclin D1 expression in B‐cell malignancies
We have analyzed the BCL1 locus in a series of 24 B‐cell tumors and cell lines with rearrangements of 11q13 (mostly t(11;14)(q13;q32) translocations). Using Southern hybridization and/or fluorescence… Expand
  • 114
  • 1
Fluorescence in situ hybridization analysis of t(3; 12)(q26; p13): a recurring chromosomal abnormality involving the TEL gene (ETV6) in myelodysplastic syndromes.
We have identified a new recurrent reciprocal translocation between chromosome 3 and 12 with breakpoints at bands 3q26 and 12p13, t(3;12)(q26;p13) in the malignant cells from five patients with acute… Expand
  • 79
  • 1