A. Smith

发表

Imprinting status of 11p15 genes in Beckwith-Wiedemann syndrome patients with CDKN1C mutations.

R. Weksberg, D. Chitayat, J. Squire, 2001, Genomics.

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.

Behavior and emotional disturbance in Prader-Willi syndrome.

B. Tonge, A. Smith, S. Einfeld, 1999, American journal of medical genetics.

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.

Frequency of trisomy 15 and loss of the Y chromosome in adult leukemia.

A. Smith, P. Sharma, N. Watson, 1999, 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.

syndrome resulting from DNA deletion . Clinical features in 27 patients with Angelman

E. Haan, A. Smith, R. Trent, 2004 .

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.

Methylation analysis at three different loci within the imprinted region of chromosome 15q11-13.

A. Smith, T. Buchholz, J. Jackson, 1997, American journal of medical genetics.

Clinical features in 27 patients with Angelman syndrome resulting from DNA deletion.

E. Haan, A. Smith, R. Trent, 1996, Journal of medical genetics.

Isolation of a cDNA-derived expressed-sequence-tag clone on chromosome 15.

A. Smith, R. Trent, W. S. Kim, 1996, Disease markers.

Fifteen cases of t(1;19)(q23;p13.3) identified in an Australian series of 122 children and 80 adults with acute lymphoblastic leukemia.

A. Smith, G. McCowage, P. Sharma, 2001, Cancer genetics and cytogenetics.

Familial unbalanced translocation t(8;15)(p23.3;q11) with uniparental disomy in Angelman syndrome

T. Woodage, A. Smith, R. Trent, 1994, Human Genetics.

Rett Syndrome: Significant Clinical Overlap With Angelman Syndrome but Not With Methylation Status

J. Christodoulou, H. Leonard, A. Smith, 1998, Journal of child neurology.

Clinical features in four patients with Angelman syndrome resulting from paternal uniparental disomy.

E. Haan, A. Smith, R. Trent, 1997, Journal of medical 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.

Bloom syndrome and maternal uniparental disomy for chromosome 15.

T. Woodage, P. Rogan, A. Smith, 1994, American journal of human genetics.

Array comparative genomic hybridization for diagnosis of developmental delay – an exploratory cost‐consequences analysis

L. Gaunt, J. Clayton-Smith, W. Newman, 2007, Clinical genetics.

Dinucleotide repeat polymorphism of D15S10 in the Prader-Willi chromosome region (PWCR).

T. Woodage, R. Lindeman, A. Smith, 1991, Nucleic acids research.

Low frequency of inherited deletions of 22q11.

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

Hypodiploidy of 37 chromosomes in an adult patient with acute lymphoblastic leukemia.

A. Smith, P. Das, P. Sharma, 2003, Cancer genetics and cytogenetics.

Death in adults with Prader-Willi syndrome may be correlated with maternal uniparental disomy

K. Steinbeck, A. Smith, G. Loughnan, 2003, 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.

The elusive Angelman syndrome critical region.

C. Woods, A. Smith, N. Nassif, 1997, Journal of medical genetics.

Physical mapping studies at D15S10: implications for candidate gene identification in the Angelman syndrome/Prader-Willi syndrome chromosome region of 15q11-q13.

T. Woodage, R. Lindeman, A. Smith, 1994, Genomics.

Pubertal development in partial trisomy 14q.

A. Smith, R. Beran, L. Ong, 1988, Journal of medical genetics.

Two apparent Philadelphia chromosomes arising from translocations with different chromosomes in a patient with CML: 46,XY,t(7;22)(p22;q11),t(9;22)(q34;q11).

A. Smith, J. Holden, A. Ginsburg, 1986, Cancer genetics and cytogenetics.

Adult B-cell acute lymphoblastic leukemia with two unrelated abnormal cytogenetic clones.

A. Smith, S. Prabhu, D. Gottlieb, 2010, Cancer genetics and cytogenetics.

Tumor development in the Beckwith-Wiedemann syndrome is associated with a variety of constitutional molecular 11p15 alterations including imprinting defects of KCNQ1OT1.

R. Weksberg, J. Squire, P. Ray, 2001, Human molecular genetics.

Occurrence of sex chromosome mosaicism and translocation Down's syndrome in the same family

A. Smith, Arabella Smith, G. Elliott, 1980, Clinical genetics.

Sequential cytogenetic studies in an ovarian cancer cell line.

A. Smith, P. Russell, Arabella Smith, 1989, Cancer genetics and cytogenetics.

Cytogenetic Studies in Perinatal Death

D. Ellwood, A. Smith, P. Bannatyne, 1990, The Australian & New Zealand journal of obstetrics & gynaecology.

Follow-up of case of advanced survival and trisomy 18.

A. Smith, G. D. den Dulk, 2008, Journal of mental deficiency research.

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.

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.

Why is there no diploid overdose effect in Prader-Willi syndrome due to uniparental disomy?

A. Smith, A. Smith, 1996, Acta geneticae medicae et gemellologiae.

Familial cryptic translocation resulting in Angelman syndrome:implications for imprinting or location of the Angelman gene?

D. J. Driscoll, A. Smith, C. Glenn, 1996, American journal of 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.

Data on Families of Chromosome Translocation Carriers Ascertained Because of Habitual Spontaneous Abortion

A. Smith, T. J. Gaha, 1990, The Australian & New Zealand journal of obstetrics & gynaecology.

Frequency of 47, +21 in cells of blood cultures from couples with habitual spontaneous abortion.

A. Smith, M. Cohen, R. Murray, 2005, American journal of medical genetics. Supplement.

Post mortem findings in a patient with 46,XX,fra(2)(q13).

A. Smith, W. Evans, J. Sullivan, 2008, Journal of mental deficiency research.

Post‐mortem findings in a fetus with 48,XXY, + 21

D. Ellwood, A. Smith, J. Michas, 1991, Prenatal diagnosis.

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.

A severely retarded male with deletion of chromosomes 15 (pter leads to q13) and 10 (q 26 leads to qter).

A. Smith, G. D. den Dulk, 1982, Journal of medical genetics.

Theelusive Angelmansyndrome critical region

A. Smith, R. Michaelis, 1997 .

Cytogenetic findings in cell lines derived from four ovarian carcinomas.

M. Tattersall, M. Tattersall, A. Smith, 1987, Cancer genetics and cytogenetics.

Trisomy 18 in an 11 year old girl.

A. Smith, M. Silink, T. Ruxton, 2008, Journal of mental deficiency research.

The significance of pericentric inversions of chromosome 2

M. Djalali, A. Smith, P. Steinbach, 2004, Human Genetics.

4p trisomy syndrome: report of 4 additional cases and segregation analysis of 21 families with different translocations.

A. Smith, E. Sujansky, J. Crane, 1979, American journal of medical genetics.

Familial hypogonadism with a balanced reciprocal 1;12 translocation.

David Handelsman, A. Smith, 1983, Journal of medical genetics.

A 13-year-old girl with karyotype 47,XX,+i(22)(qll)

I. Fraser, A. Smith, R. Shearman, 1981, Journal of medical genetics.

FISH and the paediatrician

A. Smith, 1997, Journal of paediatrics and child health.

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.

Complex variant t(4;11) characterized by fluorescence in situ hybridization in infant acute lymphoblastic leukemia.

A. Jauch, A. Smith, P. Shaw, 2001, Cancer genetics and cytogenetics.

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

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

An infertile male with balanced Y;19 translocation. Review of Y;autosome translocations.

I. Fraser, A. Smith, G. Elliott, 1979, Annales de genetique.

An abnormal dicentric X chromosome in a patient with short stature and gonadal dysgenesis.

A. Smith, G. Elliott, G. D. den Dulk, 1979, Annales de genetique.

Ring chromosome 15 and 15qs+ mosaic: clinical and cytogenetic behaviour spanning 29 years.

A. Smith, R. Viersbach, J. Michas, 1991, American journal of medical genetics.

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.

Unbalanced t(4;11)(q32;q23) in a 34-year-old man with manifestations of distal monosomy 11q and trisomy 4q syndromes.

R. Richards, A. Smith, E. Baker, 1997, American 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.

Classical Prader-Willi syndrome with trisomy 15(pter----q12) plus de novo variant 15p11.

A. Smith, A. Lipson, G. D. den Dulk, 1989, Annales de genetique.

Blepharophimosis plus ovarian failure: a likely candidate for a contiguous gene syndrome.

I. Fraser, A. Smith, P. Russell, 1989, Journal of medical genetics.

contiguous gene syndrome . failure : a likely candidate for a Blepharophimosis plus ovarian

A. Smith, P. Russell, I. S. FRASERt, 2022 .

Occurrence of the alpha thalassaemia-mental retardation syndrome (non-deletional type) in an Australian male.

A. Smith, R. Trent, A. Kearney, 1990, Journal of medical genetics.

Aneuploidy in culture.

A. Smith, G. Elliott, 2008, Journal of mental deficiency research.

A male with two different familial autosomal fragile sites and a cytogenetically abnormal offspring.

R. Lawrence, A. Smith, A. Manuel, 1985, Annales de Genetique.

Diagnosis of Prader-Willi syndrome.

A. Smith, 2003, Archives of disease in childhood.

Trisomy 18 at age 21 years.

A. Smith, B. Learoyd, B. Field, 1989, American journal of medical genetics.

Two cases of cri‐du‐chat syndrome with mild phenotypic effect but with different size of 5p deletion

A. Smith, J. Nelson, R. Murray, 1990, Journal of paediatrics and child health.

Molecular and cytogenetic studies of the Prader-Willi syndrome.

E. Haan, M. Wong, R. Lindeman, 1991, Journal of medical genetics.

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.

Dermatoglyphic analyses of 24 individuals with the Prader-Willi syndrome.

A. Smith, E. Simpson, 1982, Journal of mental deficiency research.

Chromosome fragility in the Lennox-Gastaut epilepsy syndrome.

A. Smith, R. Beran, 2008, Journal of intellectual disability research : JIDR.

Two whole arm reciprocal translocations.

A. Smith, G. D. den Dulk, R. Murray, 1988, Journal of medical genetics.

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.

uniparental disomy . Angelman syndrome resulting from paternal Clinical features in four patients with

E. Haan, A. Smith, R. Trent, 2022 .