• Publications
  • Influence
Are gains of chromosomal regions 7q and 11p important abnormalities in neuroblastoma?
Neuroblastoma exhibiting deletion of a segment of the long arm of chromosome 11 represents a genetic subtype of tumor that is distinct from those exhibiting MYCN amplification or 1p deletion. TheExpand
Coordinate deletion of chromosome 3p and 11q in neuroblastoma detected by comparative genomic hybridization.
Neuroblastoma, the most common extracranial solid tumor of childhood, is associated with a number of genetic abnormalities that are prognostically significant. The most common abnormalities areExpand
Cytogenetic versus DNA diagnosis in routine referrais for fragile X syndrome
The molecular cloning of the gene that causes the fragile X syndrome, and the demonstration that the causative mutation is an expansion of an unstable trinucleotide repeat, suggests that cytogeneticExpand
Chromosome deletion 17pl 1.2 (Smith‐Magenis syndrome) in seven new patients, four of whom had been referred for fragile‐X investigation
We report seven new patients with clinical features of the Smith‐Magenis syndrome (SMS) and small de novo interstitial deletions of 17p11.2. Four of these patients had been referred for fragile‐XExpand
Molecular cytogenetic analysis of recurrent unbalanced t(11;17) in neuroblastoma.
Loss of 11q material occurs in approximately 30% of advanced stage neuroblastoma and defines a distinct genetic subtype of this disease. These tumors almost always possess unbalanced gain of the 17q,Expand
Phylogenetic analysis of Group I marine archaeal rRNA sequences emphasizes the hidden diversity within the primary group Archaea
Archaea form one of the three primary groups of extant life and are commonly associated with the extreme environments which many of their members inhabit. Currently, the Archaea are classified intoExpand
Evolution of unbalanced gain of distal chromosome 2p in neuroblastoma
Neuroblastoma, one of the most common tumors of childhood, presents at diagnosis with a vast number of recurrent chromosomal imbalances that include hyperdiploidy for whole chromosomes, partial lossExpand
Antenatal diagnosis of deletion chromosome 11(q23-qter) (Jacobsen syndrome).
A case of Jacobsen syndrome, suspected antenatally on the grounds of trigonocephaly and hypoplastic left heart syndrome, is presented. Clinicians are reminded that a hypoplastic left heart should notExpand
16th European Colloqium on Animal Cytogenetics and Gene Mapping
s O1–O4 Page 12 Animal molecular cytogenetics
Complete and partial XY sex reversal associated with terminal deletion of 10q: report of 2 cases and literature review.
We describe 2 karyotypically male infants with terminal deletion of 10q and mental retardation, multiple phenotypic anomalies and abnormal genitalia. One [karyotype 46,XY, del(10)(q26.1)] had femaleExpand
...
1
2
3
...