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1

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

Ogle, Robert, Sillence, David O., Merrick, Ann, Ell, Jonathan, Lo, Beehong, Robson, Lisa, Smith, Arabella

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 397 KB

english, 1996

2

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

Dr. Arabella Smith, Gesina den Dulk, Renate Viersbach, John Michas

Journal:

American Journal of Medical Genetics Part A

Year:

1991

Language:

english

File:

PDF, 392 KB

english, 1991

3

Manifestations in institutionalised adults with Angelman syndrome due to deletion

Sandanam, Tls, Beange, Helen, Robson, Lisa, Woolnough, Helen, Buchholz, Tina, Smith, Arabella

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 911 KB

english, 1997

4

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

Buchholz, Tina, Jackson, Julianne, Smith, Arabella

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 66 KB

english, 1997

5

Behavior and emotional disturbance in Prader-Willi syndrome

Einfeld, Stewart L., Smith, Arabella, Durvasula, Seeta, Florio, Tony, Tonge, Bruce J.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 154 KB

english, 1999

6

Duplication within chromosome 5q characterized by fluorescence in situ hybridization

Mowat, David, Jauch, Anna, Robson, Lisa, Smith, Arabella

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 255 KB

english, 1999

7

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

Smith, Arabella, Jauch, Anna, Slater, Howard, Robson, Lisa, Sandanam, Tyls

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 864 KB

english, 1999

8

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

Oner, Guner, Jauch, Anna, Eggermann, Thomas, Hardwick, R., Kirsch, Stefan, Schiebel, Katrin, Rappold, Gudrun, Robson, Lisa, Smith, Arabella

Journal:

American Journal of Medical Genetics

Year:

2000

Language:

english

File:

PDF, 946 KB

english, 2000

9

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

Luke St. Heaps, Lisa Robson, Arabella Smith

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 159 KB

english, 2001

10

Apparently unrelated cytogenetic abnormalities among 462 probands referred for the detection of del(22q) by FISH

Arabella Smith, Luke St. Heaps, Lisa Robson

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 57 KB

english, 2002

11

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

Dr. Arabella Smith, Margaret Cohen, Robin Murray

Journal:

American Journal of Medical Genetics Part A

Year:

1990

Language:

english

File:

PDF, 261 KB

english, 1990

12

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

Dr. Trevor Woodage, Ze-Min Deng, Madhuri Prasad, Robert Smart, Robert Lindeman, Susan L. Christian, David H. Ledbetter, Lisa Robson, Arabella Smith, Ronald J. Trent

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 929 KB

english, 1994

13

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

Con James, Lisa Robson, Julianne Jackson, Dr. Arabella Smith

Journal:

American Journal of Medical Genetics Part A

Year:

1995

Language:

english

File:

PDF, 400 KB

english, 1995

14

Mucoepidermoid carcinoma of the bronchus in a 15-year-old girl with complex cytogenetic rearrangement involving 11q and over-expression of cyclin D1

Wade Barrett, Luke St. Heaps, Sara Diaz, Praveen Sharma, Susan Arbuckle, Arabella Smith

Journal:

Pediatric Blood & Cancer

Year:

2002

Language:

english

File:

PDF, 234 KB

english, 2002

15

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

Lisa Robson, Arabella Smith

Journal:

Prenatal Diagnosis

Year:

1995

Language:

english

File:

PDF, 261 KB

english, 1995

16

Isochromosome 15 with behaviour disorder

Arabella Smith, S. Einfeld

Journal:

Year:

1986

Language:

english

File:

PDF, 211 KB

english, 1986

17

A girl with the Prader-Willi Syndrome and Robertsonian translocation 45,XX,t(14;15)(p11;q11) which was present in three normal family members

Arabella Smith, Michael Noel

Journal:

Year:

1980

Language:

english

File:

PDF, 586 KB

english, 1980

18

Prenatal diagnosis and the Prader-Willi syndrome

Journal:

Year:

1986

Language:

english

File:

PDF, 57 KB

english, 1986

19

UBE3A“mutations” in two unrelated and phenotypically different Angelman syndrome patients

David C. Y. Fung, Bing Yu, K. F. Cheong, Arabella Smith, R. J. Trent

Journal:

Year:

1998

Language:

english

File:

PDF, 125 KB

english, 1998

20

Observations on the safety of disodium cromoglycate in long-term use in children

JOHN MORRISON SMITH, YVONNE ARABELLA PIZARRO

Journal:

Clinical & Experimental Allergy

Year:

1972

Language:

english

File:

PDF, 384 KB

english, 1972

21

Comprehensive methylation analysis in typical and atypical PWS and AS patients with normal biparental chromosomes 15

Muscatelli, Françoise, Gillessen-Kaesbach, Gabriele, Runte, Maren, Färber, Claudia, Lich, Christina, Zeschnigk, Michael, Buchholz, Tina, Smith, Arabella, Van Maldergem, Lionel, Bürger, Joachim

Journal:

European Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 270 KB

english, 2001

22

Three adults with acute lymphoblastic leukemia and dic(7;9)(p11.2;p11)

Arabella Smith, Praboth Das, John O'Reilly, Crisoula Patsouris, Lynda J. Campbell

Journal:

Cancer Genetics and Cytogenetics

Year:

2006

Language:

english

File:

PDF, 94 KB

english, 2006

23

Heterogeneity of PLAG1 gene rearrangements in pleomorphic adenoma

Jothy Kandasamy, Arabella Smith, Sara Diaz, Barbara Rose, Christopher O'Brien

Journal:

Cancer Genetics and Cytogenetics

Year:

2007

Language:

english

File:

PDF, 291 KB

english, 2007

24

Unbalanced translocation t(15;22) in ‘severe’ Prader–Willi syndrome

Arabella Smith, Anna Jauch, Luke St Heaps, Lisa Robson, Brian Kearney

Journal:

Annales de Génétique

Year:

2000

Language:

english

File:

PDF, 531 KB

english, 2000

25

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

Arabella Smith, Lisa Robson, Luke St. Heaps

Journal:

Annales de Génétique

Year:

2002

Language:

english

File:

PDF, 52 KB

english, 2002

26

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

Praveen Sharma, Neville Watson, Mary Sartor, Geoffrey McCowage, Arabella Smith

Journal:

Cancer Genetics and Cytogenetics

Year:

2001

Language:

english

File:

PDF, 2.09 MB

english, 2001

27

Abnormal dicentric chromosome with co-amplification of sequences from chromosomes 11 and 19: a novel rearrangement in a patient with myelodysplastic syndrome transforming to acute myeloid leukemia

Arabella Smith, Luke St. Heaps, Praveen Sharma, Angela Jarvis, Cecily Forsyth

Journal:

Cancer Genetics and Cytogenetics

Year:

2001

Language:

english

File:

PDF, 388 KB

english, 2001

28

Two Children with Acute Lymphoblastic Leukemia and “Jumping” Translocations: Both Involve 1q23 as the Donor Breakpoint

Angela Jarvis, Praveen Sharma, Neville Watson, Arabella Smith

Journal:

Cancer Genetics and Cytogenetics

Year:

1999

Language:

english

File:

PDF, 1.13 MB

english, 1999

29

Frequency of Trisomy 15 and Loss of the Y Chromosome in Adult Leukemia

Arabella Smith, Neville Watson, Praveen Sharma

Journal:

Cancer Genetics and Cytogenetics

Year:

1999

Language:

english

File:

PDF, 95 KB

english, 1999

30

17p− Syndrome Arising from a Novel Dicentric Translocation in a Patient with Acute Myeloid Leukemia

Neville Watson, Lindsay Dunlop, Lisa Robson, Praveen Sharma, Arabella Smith

Journal:

Cancer Genetics and Cytogenetics

Year:

2000

Language:

english

File:

PDF, 215 KB

english, 2000

31

TRISOMY 18 IN AN 11 YEAR OLD GIRL

Arabella Smith, M. Silink, T. Ruxton

Journal:

Journal of Intellectual Disability Research

Year:

1978

Language:

english

File:

PDF, 2.47 MB

english, 1978

32

ANEUPLOIDY IN CULTURE

ARABELLA SMITH, GAE ELLIOTT

Journal:

Journal of Intellectual Disability Research

Year:

1980

Language:

english

File:

PDF, 1.61 MB

english, 1980

33

FOLLOW-UP OF CASE OF ADVANCED SURVIVAL AND TRISOMY 18

ARABELLA SMITH, GESIN A. M. DEN DULK

Journal:

Journal of Intellectual Disability Research

Year:

1980

Language:

english

File:

PDF, 113 KB

english, 1980

34

DERMATOGLYPHIC ANALYSES OF 24 INDIVIDUALS WITH THE PRADER-WILLI SYNDROME

Arabella Smith, Eunice Simpson

Journal:

Journal of Intellectual Disability Research

Year:

1982

Language:

english

File:

PDF, 367 KB

english, 1982

35

DERMATOGLYPHIC ANALYSES OF 32 PARENTS OF PRADER-WILLI SYNDROME INDIVIDUALS

Arabella Smith, Eunice Simpson

Journal:

Journal of Intellectual Disability Research

Year:

1984

Language:

english

File:

PDF, 310 KB

english, 1984

36

A Possible Genetic Variant of Homozygous Cystinuria

ARABELLA SMITH, A. BOGDAN

Journal:

BJU International

Year:

1983

Language:

english

File:

PDF, 126 KB

english, 1983

37

Analysis of randomly amplified flow-sorted chromosomes using the polymerase chain reaction

Stephanie M. Hui, Barbara Trask, Ger van den Engh, Allison J. Bartuski, Arabella Smith, Alan Flint, Marc Lalande, Gary A. Silverman

Journal:

Year:

1995

Language:

english

File:

PDF, 884 KB

english, 1995

38

Diagnostic Testing for Prader-Willi and Angelman Syndromes: Response

Arabella Smith, Tina Buchholz, Lisa Robson

Journal:

The American Journal of Human Genetics

Year:

1997

Language:

english

File:

PDF, 76 KB

english, 1997

39

Cytogenetic findings in cell lines derived from four ovarian carcinomas

Arabella Smith, Cynthia Roberts, Carolien van Haaften-Day, Gesina den Dulk, Peter Russell, Martin H.N. Tattersall

Journal:

Cancer Genetics and Cytogenetics

Year:

1987

Language:

english

File:

PDF, 866 KB

english, 1987

40

Sequential cytogenetic studies in an ovarian cancer cell line

Arabella Smith, Caroline van Haaften-Day, Peter Russell

Journal:

Cancer Genetics and Cytogenetics

Year:

1989

Language:

english

File:

PDF, 561 KB

english, 1989

41

Urine screening for aminoacidopathies: Is it beneficial?: Results of a long-term follow-up of cases detected by screening one million babies

Bridget Wilcken, Arabella Smith, D.A. Brown

Journal:

The Journal of Pediatrics

Year:

1980

Language:

english

File:

PDF, 523 KB

english, 1980

42

Translocation 46XY, t (17;18) (q25;q21) in a mentally retarded boy with progressive eye abnormalities

Arabella Smith, Verne Caradus, J. Graham Henry

Journal:

Clinical Genetics

Year:

1979

Language:

english

File:

PDF, 826 KB

english, 1979

43

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

Arabella Smith, Gae Elliott

Journal:

Clinical Genetics

Year:

1980

Language:

english

File:

PDF, 486 KB

english, 1980

44

Chromosome aneuploidy in Alzheimer's disease

Arabella Smith, G. A. Broe, Michael Williamson

Journal:

Clinical Genetics

Year:

1983

Language:

english

File:

PDF, 257 KB

english, 1983

45

Recessive gonadal dysgenesis

Journal:

Clinical Genetics

Year:

1983

File:

PDF, 63 KB

1983

46

Chromosome fragility in Alzheimer's disease

Arabella Smith, G. A. Broe, Michael Williamson

Journal:

Clinical Genetics

Year:

1984

Language:

english

File:

PDF, 434 KB

english, 1984

47

Chromosome Findings in the Prader-Willi Syndrome

Smith, Arabella

Journal:

Journal of Intellectual & Developmental Disability

Year:

1986

Language:

english

File:

PDF, 908 KB

english, 1986

48

INTERMITTENT 20q- AND CONSISTENT i(7q) IN A PATIENT WITH SHWACHMAN-DIAMOND SYNDROME

Smith, Arabella, Shaw, Peter J., Webster, Boyd, Lammi, Ahti, Gaskin, Kevin, Diaz, Sara, Sharma, Praveen

Journal:

Pediatric Hematology-Oncology

Year:

2002

Language:

english

File:

PDF, 129 KB

english, 2002

49

Longitudinal course of behavioural and emotional problems of young persons with Prader-Willi, Fragile X, Williams and Down syndromes

Einfeld, Stewart, Tonge, Bruce, Turner, Gillian, Parmenter, Trevor, Smith, Arabella

Journal:

Journal of Intellectual & Developmental Disability

Year:

1999

Language:

english

File:

PDF, 613 KB

english, 1999

50

Postprandial cardiac autonomic function in Prader-Willi syndrome

Purtell, Louise, Jenkins, Arthur, Viardot, Alexander, Herzog, Herbert, Sainsbury, Amanda, Smith, Arabella, Loughnan, Georgina, Steinbeck, Katharine, Campbell, Lesley V, Sze, Lisa

Journal:

Clinical Endocrinology

Year:

2013

Language:

english

File:

PDF, 200 KB

english, 2013