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1

First trimester predictors of adverse pregnancy outcomes

Kate J. BRAMELD, Jan E. DICKINSON, Peter O’LEARY, Carol BOWER, Jack GOLDBLATT, Beverley HEWITT, Ashleigh MURCH, Rosanne STOCK

Journal:

Australian and New Zealand Journal of Obstetrics and Gynaecology

Year:

2008

Language:

english

File:

PDF, 133 KB

english, 2008

2

Characteristics of type I Gaucher disease associated with persistent thrombocytopenia after treatment with imiglucerase for 4–5 years

Carla E. M. Hollak, Nadia Belmatoug, J. Alexander Cole, Stephan vom Dahl, Patrick B. Deegan, Jack Goldblatt, Barry Rosenbloom, Laura van Dussen, Anna Tylki-Szymańska, Neal J. Weinreb, Ari Zimran, Mari

Journal:

British Journal of Haematology

Year:

2012

Language:

english

File:

PDF, 439 KB

english, 2012

3

Hereditary gingival fibromatosis with a recessive mode of inheritance. Case reports

Steven L. Singer, Jack Goldblatt, L. A. Hallam, John C. Winters

Journal:

Australian Dental Journal

Year:

1993

Language:

english

File:

PDF, 1.60 MB

english, 1993

4

Evolutionary adaptation of inflammatory immune responses in human beings

Peter N Le Souëf, Jack Goldblatt, Neil R Lynch

Journal:

Year:

2000

Language:

english

File:

PDF, 73 KB

english, 2000

5

Gaucher disease type 1: Revised recommendations on evaluations and monitoring for adult patients

Neal J. Weinreb, Mario C. Aggio, Hans C. Andersson, Generoso Andria, Joel Charrow, Joe T.R. Clarke, Anders Erikson, Pilar Giraldo, Jack Goldblatt, Carla Hollak, Hiroyuki Ida, Paige Kaplan, Edwin H. Ko

Journal:

Seminars in Hematology

Year:

2004

Language:

english

File:

PDF, 116 KB

english, 2004

6

Books

Miller, Jack, Rudman, Mark, Goldblatt, John, Smith, Anthony, Hunnings, Neville

Journal:

Index on Censorship

Year:

1974

Language:

english

File:

PDF, 986 KB

english, 1974

7

Prevalence of Fabry disease in dialysis patients: Western Australia Fabry disease screening study - the FoRWARD study

Jahan, Sadia, Sarathchandran, Subashini, Akhter, Shamina, Goldblatt, Jack, Stark, Samantha, Crawford, Douglas, Mallett, Andrew, Thomas, Mark

Journal:

Orphanet Journal of Rare Diseases

Year:

2020

Language:

english

File:

PDF, 560 KB

english, 2020

8

Craniosynostosis in Western Australia, 1980-1994: A population-based study

Singer, Steven, Bower, Carol, Southall, Peter, Goldblatt, Jack

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 63 KB

english, 1999

9

Reply to letter to the editor by Wilkie??Epidemiology and genetics of craniosynostosis?

Bower, Carol, Singer, Steven, Southall, Peter, Goldblatt, Jack

Journal:

American Journal of Medical Genetics

Year:

2000

Language:

english

File:

PDF, 23 KB

english, 2000

10

Identification of two sporadically derived mutations in the Von Hippel-Lindau gene

Roger L. Martin, Ian Walpole, Jack Goldblatt

Journal:

Year:

1996

Language:

english

File:

PDF, 99 KB

english, 1996

11

Mutation analysis of interleukin-5 in an asthmatic cohort

Emma Pereira, Jack Goldblatt, Peter Rye, Colin Sanderson, Peter Le Souëf

Journal:

Year:

1998

Language:

english

File:

PDF, 168 KB

english, 1998

12

Variable penetrance of familial pheochromocytoma associated with the von Hippel Lindau gene mutation, S68W

Roger Martin, Athel Hockey, Ian Walpole, Jack Goldblatt

Journal:

Year:

1998

Language:

english

File:

PDF, 26 KB

english, 1998

13

A novel polymorphism (g1344G>C ) in exon 2 of the CD14 gene

Catherine M. Hayden, Jack Goldblatt, Peter N. LeSouef

Journal:

Year:

2000

Language:

english

File:

PDF, 11 KB

english, 2000

14

Population screening for cystic fibrosis in Western Australia: Community response

Melanie Honnor, Stephen R. Zubrick, Ian Walpole, Carol Bower, Jack Goldblatt

Journal:

American Journal of Medical Genetics Part A

Year:

2000

Language:

english

File:

PDF, 92 KB

english, 2000

15

Genetic heterogeneity in Gaucher disease: Physicokinetic and immunologic studies of the residual enzyme in cultured fibroblasts from non-neuronopathic and neuronopathic patients

Dr. Gregory A. Grabowski, Jack Goldblatt, Tama Dinur, Joanne Kruse, Lars Svennerholm, Shimon Gatt, Robert J. Desnick, John M. Opitz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Year:

1985

Language:

english

File:

PDF, 1.29 MB

english, 1985

16

Familial rhizomelic dysplasia: Phenotypic variation or heterogeneity?

Dr. Denis Viljoen, Jack Goldblatt, Colin Wallis, Peter Beighton, John M. Opitz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Year:

1987

Language:

english

File:

PDF, 421 KB

english, 1987

17

Newly recognized autosomal dominant syndrome of rhizomelic shortness with clavicular defect

Dr. Colin Wallis, Solly Zieff, Jack Goldblatt, John M. Opitz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Year:

1988

Language:

english

File:

PDF, 314 KB

english, 1988

18

Unique dwarfing, spondylometaphyseal skeletal dysplasia, with joint laxity and dentinogenesis imperfecta

Dr. Jack Goldblatt, Paul Carman, Paul Sprague

Journal:

American Journal of Medical Genetics Part A

Year:

1991

Language:

english

File:

PDF, 359 KB

english, 1991

19

Dandy-Walker malformation (variant), cystic dysplastic kidneys, and hepatic fibrosis: A distinct entity or Meckel syndrome?

Dr. Ian R. Walpole, Jack Goldblatt, Athel Hockey, Simon Knowles

Journal:

American Journal of Medical Genetics Part A

Year:

1991

Language:

english

File:

PDF, 643 KB

english, 1991

20

Cataracts, aberrant oral frenula, and growth retardation: A new autosomal dominant syndrome

Dr. Diana Wellesley, Paul Carman, Noel French, Jack Goldblatt

Journal:

American Journal of Medical Genetics Part A

Year:

1991

Language:

english

File:

PDF, 253 KB

english, 1991

21

Deletion of 8p23.1 with features of Cornelia de Lange syndrome and congenital diaphragmatic hernia and a review of deletions of 8p23.1 to 8pter ? A further locus for Cornelia de Lange syndrome

Gareth Baynam, Jack Goldblatt, Ian Walpole

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 129 KB

english, 2008

22

A c.1019A > G mutation in FGFR2, which predicts p.Tyr340Cys, in a lethally malformed fetus with Pfeiffer syndrome and multiple pterygia

Gareth Baynam, Nicholas Smith, Jack Goldblatt

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 54 KB

english, 2008

23

Craniometaphyseal dysplasia and chondrocalcinosis cosegregating in a family with an ANKH mutation

Gareth Baynam, Jack Goldblatt, Lyn Schofield

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 101 KB

english, 2009

24

A recurrence of a hydrop lethal skeletal dysplasia showing similarity to Desbuquois dysplasia and a proposed new sign: The Upsilon sign

Gareth Baynam, Cathy Kiraly-Borri, Jack Goldblatt, Jan E. Dickinson, Gareth P. Jevon, Angela Overkov

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 148 KB

english, 2010

25

Further evidence for a marfanoid syndrome with neonatal progeroid features and severe generalized lipodystrophy due to frameshift mutations near the 3′ end of the FBN1 gene

Jack Goldblatt, Jill Hyatt, Caitlin Edwards, Ian Walpole

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 5.30 MB

english, 2011

26

Fetal oromandibular limb hypogenesis syndrome following uterine curettage in early pregnancy

Emma Allanson, Jan E. Dickinson, Adrian K. Charles, Jack Goldblatt

Journal:

Birth Defects Research Part A: Clinical and Molecular Teratology

Year:

2011

Language:

english

File:

PDF, 195 KB

english, 2011

27

Population-based detection of Lynch syndrome in young colorectal cancer patients using microsatellite instability as the initial test

Lyn Schofield, Natasha Watson, Fabienne Grieu, Wei Qi Li, Nik Zeps, Jennet Harvey, Colin Stewart, Michael Abdo, Jack Goldblatt, Barry Iacopetta

Journal:

International Journal of Cancer

Year:

2009

Language:

english

File:

PDF, 100 KB

english, 2009

28

Origin and diversification of the Greater Cape flora: Ancient species repository, hot-bed of recent radiation, or both?

G. Anthony Verboom, Jenny K. Archibald, Freek T. Bakker, Dirk U. Bellstedt, Ferozah Conrad, Leanne L. Dreyer, Félix Forest, Chloé Galley, Peter Goldblatt, Jack F. Henning, Klaus Mummenhoff, H. Peter L

Journal:

Molecular Phylogenetics and Evolution

Year:

2009

Language:

english

File:

PDF, 316 KB

english, 2009

29

Association between asthma-related phenotypes and theCC16 A38Gpolymorphism in an unselected population of young adult Danes

Pierre V. Candelaria, Vibeke Backer, Ingrid A. Laing, Celeste Porsbjerg, Steen Nepper-Christensen, Nick de Klerk, Jack Goldblatt, Peter N. Le Souëf

Journal:

Year:

2005

Language:

english

File:

PDF, 171 KB

english, 2005

30

Association of polymorphisms in the β2-adrenoreceptor gene with higher levels of parasitic infection

Claire E. Ramsay, Catherine M. Hayden, Katrina J. Tiller, Paul R. Burton, Isabel Hagel, Miguel Palenque, Neil R. Lynch, Jack Goldblatt, Peter N. LeSouëf

Journal:

Year:

1999

Language:

english

File:

PDF, 56 KB

english, 1999

31

Analysis of families with Lynch syndrome complicated by advanced serrated neoplasia: the importance of pathology review and pedigree analysis

Michael D. Walsh, Daniel D. Buchanan, Rhiannon Walters, Aedan Roberts, Sven Arnold, Diane McKeone, Mark Clendenning, Andrew R. Ruszkiewicz, Mark A. Jenkins, John L. Hopper, Jack Goldblatt, Jillian Geo

Journal:

Familial Cancer

Year:

2009

Language:

english

File:

PDF, 490 KB

english, 2009

32

A state-wide population-based program for detection of lynch syndrome based upon immunohistochemical and molecular testing of colorectal tumours

Lyn Schofield, Fabienne Grieu, Jack Goldblatt, Benhur Amanuel, Barry Iacopetta

Journal:

Familial Cancer

Year:

2012

Language:

english

File:

PDF, 225 KB

english, 2012

33

Evaluating Genetic Counseling: Client Expectations, Psychological Adjustment and Satisfaction with Service

Angela Davey, Kristie Rostant, Karen Harrop, Jack Goldblatt, Peter O’Leary

Journal:

Journal of Genetic Counseling

Year:

2005

Language:

english

File:

PDF, 79 KB

english, 2005

34

The Disclosure of Genetic Information: A Human Research Ethics Perspective

Danielle E. Dye, Leanne Youngs, Beverley McNamara, Jack Goldblatt, Peter O’Leary

Journal:

Journal of Bioethical Inquiry

Year:

2010

Language:

english

File:

PDF, 123 KB

english, 2010

35

The role of parasites in genetic susceptibility to allergy

Isabel Hagel, Maria Cristina Di Prisco, Jack Goldblatt, Peter N. Le Souëf

Journal:

Clinical Reviews in Allergy & Immunology

Year:

2004

Language:

english

File:

PDF, 162 KB

english, 2004

36

45,X/46,XY mosaicism and Oculo-Auriculo-Vertebral Spectrum following an IVF pregnancy: a report and a discussion of their interrelationships

Gareth Baynam, Jack Goldblatt

Journal:

Journal of Maxillofacial and Oral Surgery

Year:

2009

Language:

english

File:

PDF, 68 KB

english, 2009

37

The impact of single gene and chromosomal disorders on hospital admissions in an adult population

Danielle E. Dye, Kate J. Brameld, Susannah Maxwell, Jack Goldblatt, Peter O’Leary

Journal:

Journal of Community Genetics

Year:

2011

Language:

english

File:

PDF, 395 KB

english, 2011

38

Disparity of innate immunity–related gene effects on asthma and allergy on Karelia

Guicheng Zhang, Pierre Candelaria, J. Mika Mäkelä, Siew-Kim Khoo, M. Catherine Hayden, Leena von Hertzen, Tiina Laatikainen, Erkki Vartiainen, Jack Goldblatt, Tari Haahtela, N. Peter LeSouëf

Journal:

Pediatric Allergy and Immunology

Year:

2011

Language:

english

File:

PDF, 315 KB

english, 2011

39

Rate of X chromosome aneuploidy in young fertile women: Comparison of cultured and uncultured cell preparations using fluorescence in situ hybridisation

Kirralee PATTON, Ashleigh MURCH, Jack GOLDBLATT, John WETHERALL, Dorota DOHERTY, Narelle HADLOW

Journal:

Australian and New Zealand Journal of Obstetrics and Gynaecology

Year:

2010

Language:

english

File:

PDF, 111 KB

english, 2010

40

Socio-demographic disparities in the uptake of prenatal screening and diagnosis in Western Australia

Susannah MAXWELL, Kate BRAMELD, Carol BOWER, Jan E. DICKINSON, Jack GOLDBLATT, Narelle HADLOW, Bev HEWITT, Ashleigh MURCH, Anthony MURPHY, Roseanne STOCK, Peter O’LEARY

Journal:

Australian and New Zealand Journal of Obstetrics and Gynaecology

Year:

2011

Language:

english

File:

PDF, 141 KB

english, 2011

41

Findings in genome-wide association studies on asthma lack generalisation

Guicheng Zhang, Jack Goldblatt, Peter LeSouëf

Journal:

The Clinical Respiratory Journal

Year:

2010

Language:

english

File:

PDF, 52 KB

english, 2010

42

Compliance with professional guidelines with reference to familial cancer services

Gaenor Kyne, Susannah Maxwell, Kate Brameld, Katrina Harrison, Jack Goldblatt, Peter O'Leary

Journal:

Australian and New Zealand Journal of Public Health

Year:

2011

Language:

english

File:

PDF, 178 KB

english, 2011

43

The era of genome-wide association studies: opportunities and challenges for asthma genetics

Zhang, Guicheng, Goldblatt, Jack, Lesouëf, Peter

Journal:

Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 256 KB

english, 2009

44

Dominantly Inherited Constitutional Epigenetic Silencing of MLH1 in a Cancer-Affected Family Is Linked to a Single Nucleotide Variant within the 5′UTR

Megan P. Hitchins, Robert W. Rapkins, Chau-To Kwok, Sameer Srivastava, Justin J.L. Wong, Levon M. Khachigian, Patsie Polly, Jack Goldblatt, Robyn L. Ward

Journal:

Year:

2011

Language:

english

File:

PDF, 1.62 MB

english, 2011

45

Symptomatic Viral Infection is Associated with Impaired Response to Treatment in Children with Acute Asthma

Kristina Rueter, Joelene Bizzintino, Andrew C. Martin, Guicheng Zhang, Catherine M. Hayden, Gary C. Geelhoed, Jack Goldblatt, Ingrid A. Laing, Peter N. Le Souëf

Journal:

The Journal of Pediatrics

Year:

2012

Language:

english

File:

PDF, 237 KB

english, 2012

46

Measurement of fetal urinary sodium in obstructive uropathy: A question of units

Peter C. O'Leary, John P. Newnham, Jack Goldblatt

Journal:

American Journal of Obstetrics and Gynecology

Year:

1996

Language:

english

File:

PDF, 228 KB

english, 1996

47

Familial hemifacial microsomia due to autosomal dominant inheritance. Case reports

Steven L. Singer, Eric Haan, Jennie Slee, Jack Goldblatt

Journal:

Australian Dental Journal

Year:

1994

Language:

english

File:

PDF, 599 KB

english, 1994

48

Ehlers-Danlos syndrome: yet another type?

Denis Viljoen, Jack Goldblatt, Dave Thompson, Peter Beighton

Journal:

Clinical Genetics

Year:

1987

Language:

english

File:

PDF, 525 KB

english, 1987

49

X-linked spastic paraplegia: evidence for homogeneity with a variable phenotype

Jack Goldblatt, Robea Ballo, Brenda Sachs, Allie Moosa

Journal:

Clinical Genetics

Year:

1989

Language:

english

File:

PDF, 277 KB

english, 1989

50

Autosomal dominant osteopetrosis type II with “malignant” presentation: further support for heterogeneity?

Ian R. Walpole, Alan Nicoll, Jack Goldblatt

Journal:

Clinical Genetics

Year:

1990

Language:

english

File:

PDF, 677 KB

english, 1990