The Western Australian Family Connections Genealogical Project: Detection of familial occurrences of single gene and chromosomal disorders

QR Code

The Western Australian Family Connections Genealogical Project: Detection of familial occurrences of single gene and chromosomal disorders

Aim: To investigate using a Western Australian (WA) genealogical database for the identification of single gene and chromosome disorders among families. Method: Hospital admissions for single gene and chromosome disorders recorded during 2000–2006 were identified from the WA Hospital Morbidity Data...

Full description

Bibliographic Details
Main Authors:	Brameld, Kate, Dye, Danielle, Maxwell, Susannah, Brisbane, Joanna, Glasson, Emma, Goldblatt, Jack, O'Leary, Peter
Format:	Journal Article
Published:	Mary Ann Liebert, Inc. Publishers 2014
Subjects:	tuberous sclerosis cystic fibrosis osteogenesis imperfecta WA Hospital Morbidity Data System myotonic dystrophies Von Willebrand’s disease Factor VIII deficiency neurofibromatosis single gene WA Family Connections Genealogical Project chromosome disorders
Online Access:	http://hdl.handle.net/20.500.11937/33584

Similar Items

The Fenugreek Herbal Tea Product for Women’s Health
by: Mokhtar, Maisarah, et al.
Published: (2020)

The impact of the State Migration Centre on the current and future economic Well-Being of Western Australia - A Review.
by: Stromback, Carl, et al.
Published: (2008)

The perceptions of African refugee background students : their schooling in WA and their adjustment to the Australian cultural context
by: Mbano, Noah T.
Published: (2012)

Small molecules which improve pathogenesis of myotonic dystrophy type 1
by: López-Morató, Marta, et al.
Published: (2018)

Mocarhagin
by: Andrews, R., et al.
Published: (2013)

Teacher empowerment : an interpretive study of the experience of Asian migrant teachers in Western Australia
by: Law, Geoffrey Ka Hoo
Published: (2010)

Correlation of clinical and molecular features in myotonic dystrophy type 1 (DM1)
by: Sedehizadeh, Saam
Published: (2019)

Occupiers' Liability in the Retail Industry
by: Sadler, Pauline
Published: (2002)

Investigating genome engineering of myotonic dystrophy cells and small molecules as potential therapeutic agents
by: López Morató, Marta
Published: (2018)

Situational crime prevention at nightclub entrances in Perth, Western Australia: Exploring micro-level crime precipitators
by: Cozens, Paul, et al.
Published: (2014)

Understanding the pathogenesis and potential therapeutics of Myotonic dystrophy
by: Verma, Ayushri
Published: (2024)

iCities Report: Localising the SDGs: Towards transformative actions and base planning in Albany (WA).
by: Llop i Torne, J. M., et al.
Published: (2025)

The Western Australian border, where is it today?
by: Snow, Tony, et al.
Published: (2014)

Thy Children Own Their Birth: Diasporic genealogies and the descendants of Canada's Home Children
by: Morrison, Andrew
Published: (2006)

Nama-nama Muslim: anak lelaki
by: Muhammad, Ummu Ainul
Published: (2011)

Nama-nama Muslim
by: Muhammad, Ummu Ainul
Published: (2011)

Manipulation of safed musli (Chlorophytum borivilianum) tubers using growth regulator to enhance sprouting and storability
by: Jaafar, Juju Nakasha
Published: (2012)

Can human pluripotent stem cell-derived cardiomyocytes advance understanding of muscular dystrophies?
by: Kalra, Spandan, et al.
Published: (2016)

Cohort Profile: The Western Australian Family Connections Genealogical Project
by: Glasson, E., et al.
Published: (2008)

Differential secondary metabolite production from tuber- grown and hairy root culture of safed musli (Chlorophytum borivilianum L.)
by: Jaafar, Juju Nakasha
Published: (2016)

The Formation and Role of an Independent Trades and Labor Council in Western Australia: A Case Study
by: Oliver, Bobbie
Published: (2001)

Maternal toxicity and teratogenic effects of Jatropha curcas L. crude oil in pregnant Sprague dawley rats
by: Samat, Yon Thannia
Published: (2013)

Influence of benzene and genetic polymorphisms towards internal metabolite changes and chromosomal damage among traffic policemen in the Klang Valley, Malaysia (RESTRICTED)
by: Noor Fatihah, Mohamad Fandi
Published: (2020)

The potential role of free chitosan in bone trauma and bone cancer management
by: Tan, M., et al.
Published: (2014)

Effects of inflammatory mediators on bone marrow mesenchymal stem cells
by: Marsh, Sarah A.
Published: (2019)

Comparison of primary and stem cell-derived osteoblasts and the influence of nanoscale mechanotransduction on cell behaviour
by: Hollingworth, Mathew
Published: (2019)

A preliminary study on pre-treatment solutions towards chili seeds germination / Siti Nur Azmu’i Abdullah, Noor Amira Muhammad and Saiyidah Nafisah Hashim
by: Abdullah, Siti Nur Azmu’i, et al.
Published: (2017)

Family Matters: Bugis Genealogies And Their Contribution To Austronesian Studies
by: Caldwell, Ian, et al.
Published: (2016)

Understanding identity in the musical SIX
by: Craven, Rebecca
Published: (2024)

A bioinformatic analysis of the Duchenne muscular dystrophy gene and associated gene variants across human cancers
by: Machado, Lee
Published: (2022)

Pesticides and other chemicals in cigarette tobacco (Letter)
by: Stockwell, Tim
Published: (1992)

Scepticism, evolution and conservatism in the thought of F.A. Hayek
by: Ebadi, Aref
Published: (2018)

Factors associated with iron deficiency anaemia among pregnant women attending selected health clinics in Selangor and Kuala Lumpur, Malaysia
by: Tan, Meng Lee
Published: (2021)

Rate of X chromosome aneuploidy in young fertile women: Comparison of cultured and uncultured cell preparations using fluorescence in situ hybridisation
by: Patton, K., et al.
Published: (2010)

A 2-year randomised placebo-controlled trial of doxycycline for lymphangioleiomyomatosis
by: Chang, William Y.C., et al.
Published: (2014)

Volatile oil composition of rhizome from curcuma longa / Noor Rabiatul Adawiyah Mat Jusoh
by: Mat Jusoh, Noor Rabiatul Adawiyah
Published: (2017)

Compliance with professional guidelines with reference to familial cancer services
by: Kyne, G., et al.
Published: (2011)

Scoping review of the literature about family-centred care with caregivers of children with cystic fibrosis
by: Shields, L., et al.
Published: (2013)

Food tolerance, nutritional status and health-related quality of life of patients with morbid obesity after bariatric surgery in a public hospital in Malaysia
by: Tsen, Elina Poh Yue
Published: (2021)

Automated re-typesetting, indexing and content enhancement for scanned marriage registers
by: Brailsford, David F.
Published: (2009)

Cannot write session to /tmp/vufind_sessions/sess_pjotccn8r2i5sv8sd2081jn7iu