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1

Systematic Review and Meta-Analysis: Mental Health in Children With Neurogenetic Disorders Associated With Intellectual Disability

Glasson, Emma J., Buckley, Nicholas, Chen, Wai, Leonard, Helen, Epstein, Amy, Skoss, Rachel, Jacoby, Peter, Blackmore, A. Marie, Bourke, Jenny, Downs, Jenny

Journal:

Journal of the American Academy of Child & Adolescent Psychiatry

Year:

2020

File:

PDF, 1.61 MB

2020

2

Stereotypical hand movements in 144 subjects with Rett syndrome from the population-based Australian database

Philippa Carter, Jenny Downs, Ami Bebbington, Simon Williams, Peter Jacoby, Walter E. Kaufmann, Helen Leonard

Journal:

Movement Disorders

Year:

2010

Language:

english

File:

PDF, 79 KB

english, 2010

3

Physical and Mental Health in Mothers of Children with Down Syndrome

Jenny Bourke, Bernadette Ricciardo, Ami Bebbington, Karina Aiberti, Peter Jacoby, Paula Dyke, Michael Msall, Carol Bower, Helen Leonard

Journal:

The Journal of Pediatrics

Year:

2008

Language:

english

File:

PDF, 131 KB

english, 2008

4

Onset of maternal psychiatric disorders after the birth of a child with intellectual disability: A retrospective cohort study

Fairthorne, Jenny, Jacoby, Peter, Bourke, Jenny, de Klerk, Nick, Leonard, Helen

Journal:

Journal of Psychiatric Research

Year:

2015

Language:

english

File:

PDF, 494 KB

english, 2015

5

Twenty years of surveillance in Rett syndrome: what does this tell us?

Anderson, Alison, Wong, Kingsley, Jacoby, Peter, Downs, Jenny, Leonard, Helen

Journal:

Orphanet Journal of Rare Diseases

Year:

2014

Language:

english

File:

PDF, 257 KB

english, 2014

6

Psychometric properties of the Quality of Life Inventory-Disability (QI-Disability) measure

Downs, Jenny, Jacoby, Peter, Leonard, Helen, Epstein, Amy, Murphy, Nada, Davis, Elise, Reddihough, Dinah, Whitehouse, Andrew, Williams, Katrina

Journal:

Quality of Life Research

Year:

2018

Language:

english

File:

PDF, 768 KB

english, 2018

7

Modifiable child and caregiver factors that influence community participation among children with Down syndrome

Shields, Nora, Epstein, Amy, Jacoby, Peter, Kim, Rachel, Leonard, Helen, Reddihough, Dinah, Whitehouse, Andrew, Murphy, Nada, Downs, Jenny

Journal:

Disability & Rehabilitation

Year:

2020

File:

PDF, 1.67 MB

2020

8

Linking MECP2 and pain sensitivity: The example of Rett syndrome

Jenny Downs, Sandrine M. Géranton, Ami Bebbington, Peter Jacoby, Nadia Bahi-Buisson, David Ravine, Helen Leonard

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 134 KB

english, 2010

9

Autosomal recessive hyponatremia due to isolated salt wasting in sweat associated with a mutation in the active site ofCarbonic Anhydrase 12

Emad Muhammad, Neta Leventhal, Galit Parvari, Aaron Hanukoglu, Israel Hanukoglu, Vered Chalifa-Caspi, Yael Feinstein, Jenny Weinbrand, Harel Jacoby, Esther Manor, Tal Nagar, John C. Beck, Val C. Sheff

Journal:

Year:

2011

Language:

english

File:

PDF, 296 KB

english, 2011

10

Level of purposeful hand function as a marker of clinical severity in Rett syndrome

JENNY DOWNS, AMI BEBBINGTON, PETER JACOBY, ANNE-MARIE WILLIAMS, SOUMYA GHOSH, WALTER E KAUFMANN, HELEN LEONARD

Journal:

Developmental Medicine & Child Neurology

Year:

2010

Language:

english

File:

PDF, 318 KB

english, 2010

11

Gene therapy: cornerstone of modern medicine in the new millennium?

Journal:

Year:

2004

Language:

english

File:

PDF, 45 KB

english, 2004

12

Dietary conjugated linoleic acid alters long chain polyunsaturated fatty acid metabolism in brain and liver of neonatal pigs

Xi Lin, Jenny Bo, Susan A. Mathews Oliver, Benjamin A. Corl, Sheila K. Jacobi, William T. Oliver, Robert J. Harrell, Jack Odle

Journal:

The Journal of Nutritional Biochemistry

Year:

2011

Language:

english

File:

PDF, 699 KB

english, 2011

13

Variation Over Time in Medical Conditions and Health Service Utilization of Children with Down Syndrome

Kelly Thomas, Jenny Bourke, Sonya Girdler, Ami Bebbington, Peter Jacoby, Helen Leonard

Journal:

The Journal of Pediatrics

Year:

2011

Language:

english

File:

PDF, 282 KB

english, 2011

14

Perceptions of equipoise are crucial to trial participation: a qualitative study of men in the ProtecT study

Nicola Mills, Jenny L. Donovan, Monica Smith, Ann Jacoby, David E. Neal, Freddie C. Hamdy

Journal:

Controlled Clinical Trials

Year:

2003

Language:

english

File:

PDF, 99 KB

english, 2003

15

Use of equipment and respite services and caregiver health among Australian families living with Rett syndrome

Anna Urbanowicz, Jenny Downs, Ami Bebbington, Peter Jacoby, Sonya Girdler, Helen Leonard

Journal:

Research in Autism Spectrum Disorders

Year:

2011

Language:

english

File:

PDF, 136 KB

english, 2011

16

Relationship between family quality of life and day occupations of young people with Down syndrome

Foley, Kitty-Rose, Girdler, Sonya, Downs, Jenny, Jacoby, Peter, Bourke, Jenny, Lennox, Nick, Einfeld, Stewart, Llewellyn, Gwynnyth, Parmenter, Trevor R., Leonard, Helen

Journal:

Social Psychiatry and Psychiatric Epidemiology

Year:

2014

Language:

english

File:

PDF, 229 KB

english, 2014

17

The trajectories of sleep disturbances in Rett syndrome

Wong, Kingsley, Leonard, Helen, Jacoby, Peter, Ellaway, Carolyn, Downs, Jenny

Journal:

Journal of Sleep Research

Year:

2015

Language:

english

File:

PDF, 366 KB

english, 2015

18

The Chiltern Forum Commissioning Project – a model for primary care groups?

Patterson, Jacoby, Stewart-Brown, Sarah, Fletcher, John, Wright, Jenny

Journal:

Primary Health Care Research & Development

Year:

2002

Language:

english

File:

PDF, 146 KB

english, 2002

19

Day occupation is associated with psychopathology for adolescents and young adults with Down syndrome

Foley, Kitty-Rose, Jacoby, Peter, Einfeld, Stewart, Girdler, Sonya, Bourke, Jenny, Riches, Vivienne, Leonard, Helen

Journal:

Year:

2014

Language:

english

File:

PDF, 237 KB

english, 2014

20

Longitudinal bone mineral content and density in Rett syndrome and their contributing factors

Jefferson, Amanda, Fyfe, Sue, Downs, Jenny, Woodhead, Helen, Jacoby, Peter, Leonard, Helen

Journal:

Year:

2015

Language:

english

File:

PDF, 380 KB

english, 2015

21

Estrogens increase expression of bone morphogenetic protein 8b in brown adipose tissue of mice

Grefhorst, Aldo, van den Beukel, Johanna C, van Houten, E Leonie AF, Steenbergen, Jacobie, Visser, Jenny A, Themmen, Axel PN

Journal:

Biology of Sex Differences

Year:

2015

Language:

english

File:

PDF, 1.01 MB

english, 2015

22

Rett syndrome: establishing a novel outcome measure for walking activity in an era of clinical trials for rare disorders

Downs, Jenny, Leonard, Helen, Jacoby, Peter, Brisco, Lauren, Baikie, Gordon, Hill, Kylie

Journal:

Disability & Rehabilitation

Year:

2015

Language:

english

File:

PDF, 245 KB

english, 2015

23

Interview with David Scadden

Glorioso, Joseph, Jacoby, Jenny

Journal:

Year:

2005

Language:

english

File:

PDF, 66 KB

english, 2005

24

Family satisfaction following spinal fusion in Rett syndrome

Downs, Jenny, Torode, Ian, Ellaway, Carolyn, Jacoby, Peter, Bunting, Catherine, Wong, Kingsley, Christodoulou, John, Leonard, Helen

Journal:

Developmental Neurorehabilitation

Year:

2015

Language:

english

File:

PDF, 501 KB

english, 2015

25

The Natural History of Scoliosis in Females with Rett Syndrome

Downs, Jenny, Torode, Ian, Wong, Kingsley, Ellaway, Carolyn, Elliott, Elizabeth J, Christodoulou, John, Jacoby, Peter, Thomson, Margaret R, Izatt, Maree T, Askin, Geoffrey N, McPhee, Bruce I, Bridge,

Journal:

Year:

2015

Language:

english

File:

PDF, 516 KB

english, 2015

26

Values associated with public involvement in health and social care research: a narrative review

Gradinger, Felix, Britten, Nicky, Wyatt, Katrina, Froggatt, Katherine, Gibson, Andy, Jacoby, Ann, Lobban, Fiona, Mayes, Debbie, Snape, Dee, Rawcliffe, Tim, Popay, Jennie

Journal:

Health Expectations

Year:

2015

Language:

english

File:

PDF, 209 KB

english, 2015

27

Experience of Gastrostomy Using a Quality Care Framework

Downs, Jenny, Wong, Kingsley, Ravikumara, Madhur, Ellaway, Carolyn, Elliott, Elizabeth J., Christodoulou, John, Jacoby, Peter, Leonard, Helen

Journal:

Medicine (Medicine Publishing Company Ltd)

Year:

2014

Language:

english

File:

PDF, 291 KB

english, 2014

28

Patterns of Depressive Symptoms and Social Relating Behaviors Differ Over Time From Other Behavioral Domains for Young People With Down Syndrome

Foley, Kitty-Rose, Bourke, Jenny, Einfeld, Stewart L., Tonge, Bruce J., Jacoby, Peter, Leonard, Helen

Journal:

Medicine (Medicine Publishing Company Ltd)

Year:

2015

Language:

english

File:

PDF, 600 KB

english, 2015

29

A validation study of a modified Bouchard activity record that extends the concept of ‘uptime’ to Rett syndrome

Lor, Leon, Hill, Kylie, Jacoby, Peter, Leonard, Helen, Downs, Jenny

Journal:

Developmental Medicine & Child Neurology

Year:

2015

Language:

english

File:

PDF, 135 KB

english, 2015

30

Evolving Trends of Gastrostomy Insertion Within a Pediatric Population

Glasson, Emma J., Wong, Kingsley, Leonard, Helen, Forbes, David, Ravikumara, Madhur, Mews, Catherine, Jacoby, Peter, Bourke, Jenny, Trollor, Julian, Srasuebkul, Preeyaporn, Wilson, Andrew, Nagarajan,

Journal:

Journal of Pediatric Gastroenterology & Nutrition

Year:

2018

Language:

english

File:

PDF, 367 KB

english, 2018

31

Autism and Intellectual Disability Are Differentially Related to Sociodemographic Background at Birth

Leonard, Helen, Glasson, Emma, Nassar, Natasha, Whitehouse, Andrew, Bebbington, Ami, Bourke, Jenny, Jacoby, Peter, Dixon, Glenys, Malacova, Eva, Bower, Carol, Stanley, Fiona, Scott, James

Journal:

Year:

2011

Language:

english

File:

PDF, 508 KB

english, 2011

32

Early Mortality and Primary Causes of Death in Mothers of Children with Intellectual Disability or Autism Spectrum Disorder: A Retrospective Cohort Study

Fairthorne, Jenny, Hammond, Geoff, Bourke, Jenny, Jacoby, Peter, Leonard, Helen, Suzuki, Katsuaki

Journal:

Year:

2014

Language:

english

File:

PDF, 474 KB

english, 2014

33

Validating the Rett Syndrome Gross Motor Scale

Downs, Jenny, Stahlhut, Michelle, Wong, Kingsley, Syhler, Birgit, Bisgaard, Anne-Marie, Jacoby, Peter, Leonard, Helen, D'Esposito, Maurizio

Journal:

Year:

2016

Language:

english

File:

PDF, 204 KB

english, 2016

34

Impact of Gastrostomy Placement on Nutritional Status, Physical Health, and Parental Well-Being of Females with Rett Syndrome: A Longitudinal Study of an Australian Population

Wong, Kingsley, Downs, Jenny, Ellaway, Carolyn, Baikie, Gordon, Ravikumara, Madhur, Jacoby, Peter, Christodoulou, John, Elliott, Elizabeth J., Leonard, Helen

Journal:

The Journal of Pediatrics

Year:

2018

Language:

english

File:

PDF, 178 KB

english, 2018

35

Qualitative Analysis of Parental Observations on Quality of Life in Australian Children with Down Syndrome

Murphy, Nada, Epstein, Amy, Leonard, Helen, Davis, Elise, Reddihough, Dinah, Whitehouse, Andrew, Jacoby, Peter, Bourke, Jenny, Williams, Katrina, Downs, Jenny

Journal:

Journal of Developmental & Behavioral Pediatrics

Year:

2017

Language:

english

File:

PDF, 174 KB

english, 2017

36

Effectiveness of weekly cognitive stimulation therapy for people with dementia and the additional impact of enhancing cognitive stimulation therapy with a carer training program

Cove, Jenny, Jacobi, Nicola, Donovan, Helen, Orrell, Martin, Stott, Josh, Spector, Aimee

Journal:

Clinical Interventions in Aging

Year:

2014

Language:

english

File:

PDF, 335 KB

english, 2014

37

Epidemiology of gastrostomy insertion for children and adolescents with intellectual disability

Wong, Kingsley, Leonard, Helen, Pearson, Glenn, Glasson, Emma J, Forbes, David, Ravikumara, Madhur, Jacoby, Peter, Bourke, Jenny, Srasuebkul, Preeyaporn, Trollor, Julian, Wilson, Andrew, Nagarajan, La

Journal:

European Journal of Pediatrics

Year:

2018

Language:

english

File:

PDF, 867 KB

english, 2018

38

Content validation of the Quality of Life Inventory ‐ Disability (QI‐Disability)

Epstein, Amy, Williams, Katrina, Reddihough, Dinah, Murphy, Nada, Leonard, Helen, Whitehouse, Andrew, Jacoby, Peter, Downs, Jenny

Journal:

Child: Care, Health and Development

Year:

2019

Language:

english

File:

PDF, 477 KB

english, 2019

39

Sex Difference in Corticosterone-Induced Insulin Resistance in Mice

Kaikaew, Kasiphak, Steenbergen, Jacobie, van Dijk, Theo H, Grefhorst, Aldo, Visser, Jenny A

Journal:

Year:

2019

Language:

english

File:

PDF, 2.27 MB

english, 2019

40

Sex Difference in Corticosterone-Induced Insulin Resistance in Mice

Kaikaew, Kasiphak, Steenbergen, Jacobie, van Dijk, Theo H, Grefhorst, Aldo, Visser, Jenny A

Journal:

Year:

2019

File:

PDF, 2.27 MB

2019

41

Risk of Hospitalizations Following Gastrostomy in Children with Intellectual Disability

Jacoby, Peter, Wong, Kingsley, Srasuebkul, Preeyaporn, Glasson, Emma J., Forbes, David, Ravikumara, Madhur, Wilson, Andrew, Nagarajan, Lakshmi, Bourke, Jenny, Trollor, Julian, Leonard, Helen, Downs, J

Journal:

The Journal of Pediatrics

Year:

2019

File:

PDF, 888 KB

2019

42

Gastrostomy and quality of life in children with intellectual disability: a qualitative study

Glasson, Emma J, Forbes, David, Ravikumara, Madhur, Nagarajan, Lakshmi, Wilson, Andrew, Jacoby, Peter, Wong, Kingsley, Leonard, Helen, Downs, Jenny

Journal:

Archives of Disease in Childhood

Year:

2020

File:

PDF, 260 KB

2020

43

Prevalence estimates of mental health problems in children and adolescents with intellectual disability: A systematic review and meta-analysis

Buckley, Nicholas, Glasson, Emma J, Chen, Wai, Epstein, Amy, Leonard, Helen, Skoss, Rachel, Jacoby, Peter, Blackmore, Amanda Marie, Srinivasjois, Ravisha, Bourke, Jenny, Sanders, Richard J, Downs, Jen

Journal:

Australian and New Zealand Journal of Psychiatry

Year:

2020

File:

PDF, 576 KB

2020

44

Increasing CRISPR Efficiency and Measuring Its Specificity in HSPCs Using a Clinically Relevant System

Shapiro, Jenny, Iancu, Ortal, Jacobi, Ashley M., McNeill, Matthew S., Turk, Rolf, Rettig, Garrett R., Amit, Ido, Tovin-Recht, Adi, Yakhini, Zohar, Behlke, Mark A., Hendel, Ayal

Journal:

Molecular Therapy — Methods & Clinical Development

Year:

2020

File:

PDF, 1.48 MB

2020

45

Functioning, participation, and quality of life in children with intellectual disability: an observational study

Williams, Katrina, Jacoby, Peter, Whitehouse, Andrew, Kim, Rachel, Epstein, Amy, Murphy, Nada, Reid, Sue, Leonard, Helen, Reddihough, Dinah, Downs, Jenny

Journal:

Developmental Medicine & Child Neurology

Year:

2020

File:

PDF, 198 KB

2020

46

Reliability of the Quality of Life Inventory-Disability Measure in Children with Intellectual Disability

Jacoby, Peter, Epstein, Amy, Kim, Rachel, Murphy, Nada, Leonard, Helen, Williams, Katrina, Reddihough, Dinah, Whitehouse, Andrew, Downs, Jenny

Journal:

Journal of Developmental & Behavioral Pediatrics

Year:

2020

File:

PDF, 162 KB

2020

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