Ellaway, Carolyn J.: search on Z-Library

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1

Rett syndrome in Australia: A review of the epidemiology

Crystal L. Laurvick, Nicholas de Klerk, Carol Bower, John Christodoulou, David Ravine, Carolyn Ellaway, Sarah Williamson, Helen Leonard

Journal:

The Journal of Pediatrics

Year:

2006

Language:

english

File:

PDF, 240 KB

english, 2006

2

The diagnosis of autism in a female: could it be Rett syndrome?

Deidra J. Young, Ami Bebbington, Alison Anderson, David Ravine, Carolyn Ellaway, Alpana Kulkarni, Nick de Klerk, Walter E. Kaufmann, Helen Leonard

Journal:

European Journal of Pediatrics

Year:

2008

Language:

english

File:

PDF, 158 KB

english, 2008

3

Rett syndrome: A genetic update and clinical review focusing on comorbidities

Gold, Wendy A., Krishnaraj, Rahul, Ellaway, Carolyn, Christodoulou, John

Journal:

ACS Chemical Neuroscience

Year:

2017

Language:

english

File:

PDF, 630 KB

english, 2017

4

Presenting signs and symptoms of MPS: Results of an international physician survey

Mitchell, John, Clarke, Lorne, Ellaway, Carolyn, Foster, Helen, Giugliani, Roberto, Goizet, Cyril, Goring, Sarah, Hawley, Sara M., Jurecki, Elaina, Khan, Zaeem, Lampe, Christina, Martin, Ken, McMullen

Journal:

Molecular Genetics and Metabolism

Year:

2018

Language:

english

File:

PDF, 74 KB

english, 2018

5

Ornithine Transcarbamylase Deficiency Presenting as Acute Liver Failure in Girls: A Paediatric Case Series

Selvanathan, Arthavan, Hertzog, Ashley, Lemberg, Daniel A., Ellaway, Carolyn

Journal:

Journal of Pediatric Gastroenterology & Nutrition

Year:

2020

File:

PDF, 123 KB

2020

6

Medium-term open label trial of L-carnitine in Rett syndrome

Carolyn J Ellaway, Jennifer Peat, Katrina Williams, Helen Leonard, John Christodoulou

Journal:

Brain and Development

Year:

2001

Language:

english

File:

PDF, 75 KB

english, 2001

7

The incidence, prevalence and clinical features of MECP2 duplication syndrome in Australian children

Giudice-Nairn, Peter, Downs, Jenny, Wong, Kingsley, Wilson, Dylan, Ta, Daniel, Gattas, Michael, Amor, David, Thompson, Elizabeth, Kirrali-Borri, Cathy, Ellaway, Carolyn, Leonard, Helen

Journal:

Journal of Paediatrics and Child Health

Year:

2019

Language:

english

File:

PDF, 606 KB

english, 2019

8

Sleep problems in Rett syndrome

Deidra Young, Lakshmi Nagarajan, Nick de Klerk, Peter Jacoby, Carolyn Ellaway, Helen Leonard

Journal:

Brain and Development

Year:

2007

Language:

english

File:

PDF, 139 KB

english, 2007

9

Understanding the Early Presentation of Mucopolysaccharidoses Disorders

Clarke, Lorne, Ellaway, Carolyn, Foster, Helen E., Giugliani, Roberto, Goizet, Cyril, Goring, Sarah, Hawley, Sara, Jurecki, Elaina, Khan, Zaeem, Lampe, Christina, Martin, Ken, McMullen, Suzanne, Mitch

Journal:

Journal of Inborn Errors of Metabolism & Screening

Year:

2018

Language:

english

File:

PDF, 665 KB

english, 2018

10

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

11

TELECONFERENCE ETIQUETTE

Carolyn Ellaway

Journal:

Journal of Paediatrics and Child Health

Year:

2012

Language:

english

File:

PDF, 84 KB

english, 2012

12

Perinatal hypophosphatasia presenting as neonatal epileptic encephalopathy with abnormal neurotransmitter metabolism secondary to reduced co-factor pyridoxal-5′-phosphate availability

Balasubramaniam, Shanti, Bowling, Frank, Carpenter, Kevin, Earl, John, Chaitow, Jeffrey, Pitt, James, Mornet, Etienne, Sillence, David, Ellaway, Carolyn

Journal:

Journal of Inherited Metabolic Disease

Year:

2010

Language:

english

File:

PDF, 244 KB

english, 2010

13

Metacarpophalangeal pattern profile and bone age in Rett syndrome: Further radiological clues to the diagnosis

Leonard, Helen, Thomson, Margaret, Glasson, Emma, Fyfe, Susan, Leonard, Seonaid, Ellaway, Carolyn, Christodoulou, John, Bower, Carol

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 207 KB

english, 1999

14

Cyclin-Dependent Kinase-Like 5 (CDKL5) Mutation Screening in Rett Syndrome and Related Disorders

White, Rose, Ho, Gladys, Schmidt, Swetlana, Scheffer, Ingrid E., Fischer, Alexandra, Yendle, Simone C., Bienvenu, Thierry, Nectoux, Juliette, Ellaway, Carolyn J., Darmanian, Artur, Tong, XingZhang, Cl

Journal:

Twin Research and Human Genetics

Year:

2010

Language:

english

File:

PDF, 307 KB

english, 2010

15

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

16

Is it Pompe Disease? Australian Diagnostic Considerations

Tchan, Michel, Henderson, Robert, Kornberg, Andrew, Kairaitis, Kristina, Fuller, Maria, Davis, Mark, Ellaway, Carolyn, Reardon, Katrina, Corbett, Alastair, Needham, Merrilee, McKelvie, Penny

Journal:

Neuromuscular Disorders

Year:

2020

File:

PDF, 2.54 MB

2020

17

Familial DHCR7 genotype presenting as a very mild form of SmithâLemliâOpitz syndrome and lethal holoprosencephaly

Temple, Suzanna E. L., Sachdev, Rani, Ellaway, Carolyn

Journal:

Year:

2020

File:

PDF, 5.77 MB

2020

18

Gastrointestinal Dysmotility in Rett Syndrome

Baikie, Gordon, Ravikumara, Madhur, Downs, Jenny, Naseem, Nusrat, Wong, Kingsley, Percy, Alan, Lane, Jane, Weiss, Batia, Ellaway, Carolyn, Bathgate, Katherine, Leonard, Helen

Journal:

Journal of Pediatric Gastroenterology & Nutrition

Year:

2014

Language:

english

File:

PDF, 463 KB

english, 2014

19

Treatable lysosomal storage diseases in the advent of diseaseâspecific therapy

Peters, Heidi, Ellaway, Carolyn, Nicholls, Kathleen, Reardon, Katrina, Szer, Jeff

Journal:

Internal Medicine Journal

Year:

2020

File:

PDF, 3.00 MB

2020

20

Tetrahydrobiopterin-responsive phenylketonuria: The New South Wales experience

John J. Mitchell, Bridget Wilcken, Ian Alexander, Carolyn Ellaway, Helen O’Grady, Veronica Wiley, John Earl, John Christodoulou

Journal:

Molecular Genetics and Metabolism

Year:

2005

Language:

english

File:

PDF, 192 KB

english, 2005

21

Surgical fusion of early onset severe scoliosis increases survival in Rett syndrome: a cohort study

Downs, Jenny, Torode, Ian, Wong, Kingsley, Ellaway, Carolyn, Elliott, Elizabeth J, Izatt, Maree T, Askin, Geoffrey N, Mcphee, Bruce I, Cundy, Peter, Leonard, Helen

Journal:

Developmental Medicine & Child Neurology

Year:

2016

Language:

english

File:

PDF, 130 KB

english, 2016

22

The association between behavior and genotype in Rett syndrome using the Australian Rett Syndrome Database

Laila Robertson, Sonĵa E. Hall, Peter Jacoby, Carolyn Ellaway, Nick de Klerk, Helen Leonard

Journal:

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Year:

2006

Language:

english

File:

PDF, 95 KB

english, 2006

23

Guidelines for reporting clinical features in cases with MECP2 mutations

Alison M. Kerr, Yoshiko Nomura, Dawna Armstrong, Maria Anvret, Pavel V. Belichenko, Sarojini Budden, Hilary Cass, John Christodoulou, Angus Clarke, Carolyn Ellaway, Maurizio d'Esposito, Uta Francke, M

Journal:

Brain and Development

Year:

2001

Language:

english

File:

PDF, 73 KB

english, 2001

24

Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders

Ewans, Lisa J, Schofield, Deborah, Shrestha, Rupendra, Zhu, Ying, Gayevskiy, Velimir, Ying, Kevin, Walsh, Corrina, Lee, Eric, Kirk, Edwin P, Colley, Alison, Ellaway, Carolyn, Turner, Anne, Mowat, Davi

Journal:

Genetics in Medicine

Year:

2018

Language:

english

File:

PDF, 448 KB

english, 2018

25

610: Dietary L-tyrosine supplementation in nemaline myopathy

Monique M. Ryan, Catherine Sy, Sian Rudge, Carolyn Ellaway, David Ketteridge, Laurence Roddick, Andrew J. Kornberg, Kathryn N. North

Journal:

Journal of Clinical Neuroscience

Year:

2007

Language:

english

File:

PDF, 37 KB

english, 2007

26

Genome‐wide transcriptomic and proteomic studies of Rett syndrome mouse models identify common signalling pathways and cellular functions as potential therapeutic targets

Krishnaraj, Rahul, Haase, Florencia, Coorey, Bronte, Luca, Edward J, Wong, Ingar, Boyling, Alexandra, Ellaway, Carolyn, Christodoulou, John, Gold, Wendy A

Journal:

Year:

2019

Language:

english

File:

PDF, 295 KB

english, 2019

27

Assessment and Management of Nutrition and Growth in Rett Syndrome

Leonard, Helen, Ravikumara, Madhur, Baikie, Gordon, Naseem, Nusrat, Ellaway, Carolyn, Percy, Alan, Abraham, Suzanne, Geerts, Suzanne, Lane, Jane, Jones, Mary, Bathgate, Katherine, Downs, Jenny

Journal:

Journal of Pediatric Gastroenterology & Nutrition

Year:

2013

Language:

english

File:

PDF, 224 KB

english, 2013

28

Front Cover, Volume 40, Issue 12

Krishnaraj, Rahul, Haase, Florencia, Coorey, Bronte, Luca, Edward J, Wong, Ingar, Boyling, Alexandra, Ellaway, Carolyn, Christodoulou, John, Gold, Wendy A.

Journal:

Year:

2019

File:

PDF, 4.53 MB

2019

29

Cover, Volume 41, Issue 10

Kaur, Simranpreet, Van Bergen, Nicole J., Verhey, Kristen J., Nowell, Cameron J., Budaitis, Breane, Yue, Yang, Ellaway, Carolyn, BrunettiâPierri, Nicola, Cappuccio, Gerarda, Bruno, Irene, Boyle, Lia

Journal:

Year:

2020

File:

PDF, 1.78 MB

2020

30

Presenting signs and symptoms of MPS: Results of a systematic literature analysis

Mitchell, John, Clarke, Lorne, Ellaway, Carolyn, Foster, Helen, Giugliani, Roberto, Goizet, Cyril, Goring, Sarah, Hawley, Sara M., Jurecki, Elaina, Khan, Zaeem, Lampe, Christina, Martin, Ken, McMullen

Journal:

Molecular Genetics and Metabolism

Year:

2018

Language:

english

File:

PDF, 52 KB

english, 2018

31

Infantile-onset Pompe disease: A case series highlighting early clinical features, spectrum of disease severity and treatment response

Owens, Penny, Wong, Melanie, Bhattacharya, Kaustuv, Ellaway, Carolyn

Journal:

Journal of Paediatrics and Child Health

Year:

2018

Language:

english

File:

PDF, 179 KB

english, 2018

32

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

33

Deletion of protein tyrosine phosphatase, non-receptor type 4 (PTPN4) in twins with a Rett syndrome-like phenotype

Williamson, Sarah L, Ellaway, Carolyn J, Peters, Greg B, Pelka, Gregory J, Tam, Patrick PL, Christodoulou, John

Journal:

European Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 611 KB

english, 2014

34

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

35

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

36

Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A ( KIF1A )

Kaur, Simranpreet, Van Bergen, Nicole J., Verhey, Kristen J., Nowell, Cameron J., Budaitis, Breane, Yue, Yang, Ellaway, Carolyn, BrunettiâPierri, Nicola, Cappuccio, Gerarda, Bruno, Irene, Boyle, Lia

Journal:

Year:

2020

File:

PDF, 924 KB

2020

37

Sleep dysfunction in Rett syndrome: lack of age related decrease in sleep duration

Carolyn Ellaway, Jennifer Peat, Helen Leonard, John Christodoulou

Journal:

Brain and Development

Year:

2001

Language:

english

File:

PDF, 58 KB

english, 2001

38

Update on the investigation of children with delayed development

Silove, Natalie, Collins, Felicity, Ellaway, Carolyn

Journal:

Journal of Paediatrics and Child Health

Year:

2013

Language:

english

File:

PDF, 841 KB

english, 2013

39

Expanding the clinical picture of the MECP2 Duplication Syndrome

Lim, Zhan, Downs, Jenny, Wong, Kingsley, Ellaway, Carolyn, Leonard, Helen

Journal:

Clinical Genetics

Year:

2016

Language:

english

File:

PDF, 1.10 MB

english, 2016

40

Cryptic intronic NBAS variant reveals the genetic basis of recurrent liver failure in a child

Rius, Rocio, Riley, Lisa G., Guo, Yiran, Menezes, Minal, Compton, Alison G., Van Bergen, Nicole J., Gayevskiy, Velimir, Cowley, Mark J., Cummings, Beryl B., Adams, Louisa, Ellaway, Carolyn, Thorburn,

Journal:

Molecular Genetics and Metabolism

Year:

2018

Language:

english

File:

PDF, 594 KB

english, 2018

41

Diagnostic dilemma and delay in Fabry disease: Insights from a case series of young female patients

Ellaway, Carolyn

Journal:

Journal of Paediatrics and Child Health

Year:

2014

Language:

english

File:

PDF, 145 KB

english, 2014

42

Neurophysiological profile of peripheral neuropathy associated with childhood mitochondrial disease

Menezes, Manoj P., Rahman, Shamima, Bhattacharya, Kaustuv, Clark, Damian, Christodoulou, John, Ellaway, Carolyn, Farrar, Michelle, Pitt, Matthew, Sampaio, Hugo, Ware, Tyson L., Wedatilake, Yehani, Tho

Journal:

Year:

2016

Language:

english

File:

PDF, 353 KB

english, 2016

43

Hypoglycemia in CDG patients due to PMM2 mutations: Follow up on hyperinsulinemic patients

Moravej, Hossein, Altassan, Ruqaiah, Jaeken, Jaak, Enns, Gregory M., Ellaway, Carolyn, Balasubramaniam, Shanti, De Lonlay, Pascale, Coman, David, MercimekâAndrews, Saadet, Witters, Peter, Morava, Ev

Journal:

Year:

2020

Language:

english

File:

PDF, 782 KB

english, 2020

44

CRIM-negative infantile Pompe disease: characterization of immune responses in patients treated with ERT monotherapy

Berrier, Kathryn L., Kazi, Zoheb B., Prater, Sean N., Bali, Deeksha S., Goldstein, Jennifer, Stefanescu, Mihaela C., Rehder, Catherine W., Botha, Eleanor G., Ellaway, Carolyn, Bhattacharya, Kaustuv, T

Journal:

Genetics in Medicine

Year:

2015

Language:

english

File:

PDF, 575 KB

english, 2015

45

NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses

Van Bergen, Nicole J, Guo, Yiran, Rankin, Julia, Paczia, Nicole, Becker-Kettern, Julia, Kremer, Laura S, Pyle, Angela, Conrotte, Jean-François, Ellaway, Carolyn, Procopis, Peter, Prelog, Kristina, Hom

Journal:

Year:

2018

Language:

english

File:

PDF, 736 KB

english, 2018

46

Effects of MECP2 mutation type, location and X-inactivation in modulating Rett syndrome phenotype

Linda S. Weaving, Sarah L. Williamson, Bruce Bennetts, Mark Davis, Carolyn J. Ellaway, Helen Leonard, Meow-Keong Thong, Martin Delatycki, Elizabeth M. Thompson, Nigel Laing, John Christodoulou

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 202 KB

english, 2003

47

Effectiveness of early hematopoietic stem cell transplantation in preventing neurocognitive decline in mucopolysaccharidosis type II: A case series

Selvanathan, Arthavan, Ellaway, Carolyn, Wilson, Callum, Owens, Penny, Shaw, Peter, Bhattacharya, Kaustuv

Journal:

Molecular Genetics and Metabolism

Year:

2018

Language:

english

File:

PDF, 74 KB

english, 2018

48

14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype

Ellaway, Carolyn J, Ho, Gladys, Bettella, Elisa, Knapman, Alisa, Collins, Felicity, Hackett, Anna, McKenzie, Fiona, Darmanian, Artur, Peters, Gregory B, Fagan, Kerry, Christodoulou, John

Journal:

European Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 322 KB

english, 2013

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