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Genes, Chromosomes & Cancer|August 26, 1998
Rearrangement between the MYH11 gene at 16p13 and D12S158 at 12p13 in a case of acute myeloid leukemia M1 (AML-M1)R La Starza, I Wlodarska, C Matteucci, et al.
Italian Journal of Pediatrics|October 11, 2022
A PMM2-CDG caused by an A108V mutation associated with a heterozygous 70 kilobases deletion case reportE Lebredonchel, A Riquet, D Neut, et al.
JIMD Reports|June 21, 2018
RFT1-CDG: Absence of Epilepsy and Deafness in Two Patients with Novel Pathogenic VariantsD Quelhas, J Jaeken, A Fortuna, et al.
The Biochemical Journal|March 23, 1999
Kinetic properties and tissular distribution of mammalian phosphomannomutase isozymesM Pirard, Y Achouri, J F Collet, et al.
European Journal of Human Genetics : EJHG|January 15, 1999
Detailed mapping of the phosphomannomutase 2 (PMM2) gene and mutation detection enable improved analysis for Scandinavian CDG type I familiesC Bjursell, J Wahlström, K Berg, et al.
Genetic Counseling (Geneva, Switzerland)|January 23, 1999
Skin pigment anomalies and mosaicism for a double autosomal trisomy (48,XX,+18,+20)K Devriendt, G Matthijs, J Meireleire, et al.
Cancer Research|February 17, 2000
Genomic imbalances including amplification of the tyrosine kinase gene JAK2 in CD30+ Hodgkin cellsS Joos, M Küpper, S Ohl, et al.
Blood|May 15, 1995
TEL gene is involved in myelodysplastic syndromes with either the typical t(5;12)(q33;p13) translocation or its variant t(10;12)(q24;p13)I Wlodarska, C Mecucci, P Marynen, et al.
Genes, Chromosomes & Cancer|June 1, 1992
dup(12)(q13----qter) in two t(14;18)-negative follicular B-non-Hodgkin's lymphomasI Wlodarska, C Mecucci, E Vandenberghe, et al.
Blood|April 1, 1996
The 12;21 translocation involving TEL and deletion of the other TEL allele: two frequently associated alterations found in childhood acute lymphoblastic leukemiaS Raynaud, H Cave, M Baens, et al.
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