L. Robson

发表

Novel chromosome 16 abnormality--der(16)del(16) (q13)t(16;21)(p11.2;q22)--associated with acute myeloid leukemia.

A. Smith, P. Sharma, N. Watson, 1999, Cancer genetics and cytogenetics.

Routine fluorescence in situ hybridization with the MLL probe does not reliably detect two separate signals on one chromosome 11 in patients with trisomy 11.

A. Smith, L. Heaps, K. Bradstock, 2001, Cancer genetics and cytogenetics.

A novel dicentric deleted chromosome 21 arising from tandem translocation.

A. Smith, L. Robinson, M. Hertzberg, 2000, Cancer genetics and cytogenetics.

17p- syndrome arising from a novel dicentric translocation in a patient with acute myeloid leukemia.

A. Smith, P. Sharma, N. Watson, 2000, Cancer genetics and cytogenetics.

Manifestations in institutionalised adults with Angelman syndrome due to deletion.

A. Smith, L. Robson, H. Woolnough, 1997, American journal of medical genetics.

Use of two FISH probes provides a cost-effective, simple protocol to exclude an imprinting centre defect in routine laboratory testing for suspected Prader-Willi and Angelman syndrome.

L. Robson, L. St Heaps, Arabella Smith, 2002, Annales de genetique.

Unbalanced translocation t(15;22) in "severe" Prader-Willi syndrome.

A. Jauch, A. Smith, L. Robson, 2000, Annales de genetique.

Evaluation of methylation analysis for diagnostic testing in 258 referrals suspected of Prader-Willi or Angelman syndromes

A. Smith, L. Robson, T. Buchholz, 1998, Human Genetics.

Comparison of high resolution cytogenetics, fluorescence in situ hybridisation, and DNA studies to validate the diagnosis of Prader-Willi and Angelman's syndromes.

T. Woodage, A. Smith, R. Trent, 1995, Archives of disease in childhood.

Low frequency of inherited deletions of 22q11.

A. Smith, L. Robson, Arabella Smith, 1999, American journal of medical genetics.

Syndromal obesity due to paternal duplication 6(q24.3-q27).

A. Jauch, A. Smith, H. Slater, 1999, American journal of medical genetics.

Normal growth in Angelman syndrome due to paternal UPD

B. Buchholz, A. Smith, L. Robson, 1998, Clinical genetics.

Diagnostic testing for Prader-Willi and Angelman syndromes: response.

A. Smith, L. Robson, T. Buchholz, 1997, American journal of human genetics.

A variety of genetic mechanisms are associated with the Prader-Willi syndrome.

D. Ledbetter, S. Christian, T. Woodage, 1994, American journal of medical genetics.

L. Robson, L. St Heaps, Arabella Smith, 2002, American journal of medical genetics.

The use of fluorescence in‐situ hybridisation to clarify abnormal Y chromosomes in two infertile men

L. Robson, Arabella Smith, A. Conway, 1994, The Medical journal of Australia.

Inter‐observer discrepancy in scoring signals on interphase fish with an X library probe illustrated in a case of 47, XXX

L. Robson, Arabella Smith, 1995, Prenatal diagnosis.

Application of interphase FISH on direct bone marrow smears for evidence of chimerism in pediatric sex mismatched bone marrow transplantation.

A. Smith, P. Shaw, P. Sharma, 1999, Pathology.

Investigations with fluorescence in situ hybridization (FISH) demonstrate loss of the telomeres on the reciprocal chromosome in three unbalanced translocations involving chromosome 15 in the Prader-Willi and Angelman syndromes

A. Jauch, A. Smith, L. Robson, 1995, Human Genetics.

Karyotype 69,XXX/47,XX,+15 in a 2 1/2 year old child.

A. Smith, L. Robson, A. Lammi, 1997, Journal of medical genetics.

46,XY/47,XYY/48,XYYY karyotype in a 3-year-old boy ascertained because of radioulnar synostosis.

A. Smith, L. Robson, J. Jackson, 1995, American journal of medical genetics.

Duplication within chromosome 5q characterized by fluorescence in situ hybridization.

A. Jauch, A. Smith, D. Mowat, 1999, American journal of medical genetics.

Mosaic rearrangement of chromosome 18: characterization by FISH mapping and DNA studies shows trisomy 18p and monosomy 18p both of paternal origin.

A. Jauch, G. Rappold, T. Eggermann, 2000, American journal of medical genetics.

The Wolf-Hirschhorn syndrome in adulthood: evaluation of a 24-year-old man with a rec(4) chromosome.

D. Sillence, A. Smith, R. Ogle, 1996, American journal of medical genetics.

Review of referrals for the FISH detection of Williams syndrome highlights the importance of testing in supravalvular aortic stenosis/pulmonary stenosis.

A. Smith, L. Robson, L. St Heaps, 2001, American journal of medical genetics.

Comparison of metaphase and interphase FISH monitoring of minimal residual disease with MLL gene probe: case study of AML with t(9;11).

A. Smith, P. Sharma, N. Watson, 1999, Annales de genetique.

SOLID VARIANT OF ALVEOLAR RHABDOMYOSARCOMA WITH UNBALANCED t(2;13) AND HYPOTETRAPLOIDY, WITHOUT MYCN AMPLIFICATION

A. Smith, P. Sharma, L. Robson, 2001, Pathology.

Appendiceal carcinoma complicating adenomatous polyposis in a young woman with a de novo constitutional reciprocal translocation t(5;8)(q22;p23.1)

A. Smith, C. Tomaras, J. Freiman, 2000, Journal of medical genetics.

A 15p+ variant shown to be a t(Y;15) with fluorescence in situ hybridisation.

A. Smith, L. Robson, Arabella Smith, 1992, Annales de genetique.

Fluorescence in‐situ hybridisation and molecular studies used in the characterisation of a Robertsonian translocation (13q15q) in Prader‐Willi syndrome

T. Woodage, A. Smith, R. Trent, 1993, Clinical genetics.

A 3 1/2 year old girl with distal trisomy 19q defined by FISH.

A. Jauch, A. Smith, N. Watson, 1996, Journal of medical genetics.

How accurate does rapid fetal karyotyping need to be? Case of unbalanced t(13;18)

L. Robson, Arabella Smith, S. Meagher, 1993, Prenatal diagnosis.

Molecular analysis of an extra inv dup(15)(q13) chromosome in two patients with Angelman syndrome.

S. Schuffenhauer, A. Smith, L. Robson, 1996, Acta geneticae medicae et gemellologiae.