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51

Choice making in Rett syndrome: a descriptive study using video data

Urbanowicz, Anna, Ciccone, Natalie, Girdler, Sonya, Leonard, Helen, Downs, Jenny

Journal:

Disability & Rehabilitation

Year:

2017

Language:

english

File:

PDF, 954 KB

english, 2017

52

Maternal Race–Ethnicity, Immigrant Status, Country of Birth, and the Odds of a Child With Autism

Fairthorne, Jenny, de Klerk, Nick, Leonard, Helen M., Schieve, Laura A., Yeargin-Allsopp, Marshalyn

Journal:

Child Neurology Open

Year:

2017

Language:

english

File:

PDF, 279 KB

english, 2017

53

Twenty-Five Year Survival of Children with Intellectual Disability in Western Australia

Bourke, Jenny, Nembhard, Wendy N., Wong, Kingsley, Leonard, Helen

Journal:

The Journal of Pediatrics

Year:

2017

Language:

english

File:

PDF, 183 KB

english, 2017

54

Patterns of sedentary time and ambulatory physical activity in a Danish population of girls and women with Rett syndrome

Stahlhut, Michelle, Downs, Jenny, Aadahl, Mette, Leonard, Helen, Bisgaard, Anne-Marie, Nordmark, Eva

Journal:

Disability & Rehabilitation

Year:

2017

Language:

english

File:

PDF, 1017 KB

english, 2017

55

Use of health services in the last year of life and cause of death in people with intellectual disability: a retrospective matched cohort study

Brameld, Kate, Spilsbury, Katrina, Rosenwax, Lorna, Leonard, Helen, Semmens, James

Journal:

Year:

2018

Language:

english

File:

PDF, 277 KB

english, 2018

56

Enhancement of structural, functional and antioxidant properties of fish gelatin films using Maillard reactions

Kchaou, Hela, Benbettaïeb, Nasreddine, Jridi, Mourad, Abdelhedi, Ola, Karbowiak, Thomas, Brachais, Claire-Hélène, Léonard, Marie-Laure, Debeaufort, Frédéric, Nasri, Moncef

Journal:

Food Hydrocolloids

Year:

2018

Language:

english

File:

PDF, 2.00 MB

english, 2018

57

Environmental enrichment intervention for Rett syndrome: an individually randomised stepped wedge trial

Downs, Jenny, Rodger, Jenny, Li, Chen, Tan, Xuesong, Hu, Nan, Wong, Kingsley, de Klerk, Nicholas, Leonard, Helen

Journal:

Orphanet Journal of Rare Diseases

Year:

2018

Language:

english

File:

PDF, 764 KB

english, 2018

58

Surveillance Data Highlights Feed Form, Biosecurity, and Disease Control as Significant Factors Associated with Salmonella Infection on Farrow-to-Finish Pig Farms

Argüello, Hector, Manzanilla, Edgar G., Lynch, Helen, Walia, Kavita, Leonard, Finola C., Egan, John, Duffy, Geraldine, Gardiner, Gillian E., Lawlor, Peadar G.

Journal:

Frontiers in Microbiology

Year:

2018

Language:

english

File:

PDF, 324 KB

english, 2018

59

Apgar score and risk of autism

Modabbernia, Amirhossein, Sandin, Sven, Gross, Raz, Leonard, Helen, Gissler, Mika, Parner, Erik T., Francis, Richard, Carter, Kim, Bresnahan, Michaeline, Schendel, Diana, Hornig, Mady, Reichenberg, Ab

Journal:

European Journal of Epidemiology

Year:

2018

Language:

english

File:

PDF, 484 KB

english, 2018

60

Early Induction of Human Regulatory Dermal Antigen Presenting Cells by Skin-Penetrating Schistosoma Mansoni Cercariae

Winkel, Béatrice M. F., Dalenberg, Mirjam R., de Korne, Clarize M., Feijt, Carola, Langenberg, Marijke C. C., Pelgrom, Leonard, Ganesh, Munisha S., Yazdanbakhsh, Maria, Smits, Hermelijn Helene, de Jon

Journal:

Frontiers in Immunology

Year:

2018

Language:

english

File:

PDF, 3.44 MB

english, 2018

61

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

62

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

63

[International Review of Research in Developmental Disabilities] Using Secondary Datasets to Understand Persons with Developmental Disabilities and their Families Volume 45 || Application of Population-Based Linked Data to the Study of Intellectual Disability and Autism

Year:

2013

Language:

english

File:

PDF, 565 KB

english, 2013

64

To Nell and Back: Revisiting Mistress Quickly

Gaby, Rosemary, Leonard, Alice, Mardock, James, Ostovich, Helen

Journal:

Renaissance Drama

Year:

2019

File:

PDF, 614 KB

2019

65

Tanning bed use and depression in a preventive medicine cohort: The Cooper Center Longitudinal Study

Kinser, Katie, Barlow, Carolyn E., Leonard, David, Farrell, Stephen W., Pavlovic, Andjelka, Kaporis, Helen A., Brown, E Sherwood, Willis, Benjamin L., DeFina, Laura F.

Journal:

Journal of the American Academy of Dermatology

Year:

2020

Language:

english

File:

PDF, 271 KB

english, 2020

66

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

67

Familial aggregation in Rett syndrome: What is the evidence for clustering of other disorders in the families of affected girls?

Leonard, Helen, Fyfe, Susan, Dye, Danielle, Leonard, Seonaid

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 71 KB

english, 1999

68

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

69

Experimental African HEV infection in cynomolgus macaques (Macaca fascicularis)

van Cuyck-Gandré, Hélène, Cockman-Thomas, Rebecca, Caudill, Jeffrey D., Asher, Ludmina S. V., Armstrong, Karyn L., Hauroeder, Barbel, Clements, Norma J., Binn, Leonard N., Longer, Charles F.

Journal:

Journal of Medical Virology

Year:

1998

Language:

english

File:

PDF, 583 KB

english, 1998

70

Phylogenetic analysis of hepatitis E virus isolates from Egypt

Tsarev, Sergei A., Binn, Leonard N., Gomatos, Peter J., Arthur, Ray R., Monier, Mohamed K., van Cuyck-Gandre, Helene, Longer, Charles F., Innis, Bruce L.

Journal:

Journal of Medical Virology

Year:

1999

Language:

english

File:

PDF, 194 KB

english, 1999

71

The use of a highly informative CA repeat polymorphism within the abetalipoproteinaemia locus (4q22–24)

Karen E. Heath, Le-ahn Luong, James V. Leonard, Ann Chester, Carol C. Shoulders, James Scott, Helen R. Middleton-Price, Steve E. Humphries, Philippa J. Talmud

Journal:

Prenatal Diagnosis

Year:

1997

Language:

english

File:

PDF, 76 KB

english, 1997

72

Loss of heterozygosity studies in squamous cell carcinomas of the head and neck

David T. Ransom, J. Helen Leonard, John H. Kearsley, Gavin R. Turbett, Kathy Heel, Vilnis Sosars, Nicholas K. Hayward, James F. Bishop

Journal:

Year:

1996

Language:

english

File:

PDF, 800 KB

english, 1996

73

Deletion mapping of the short arm of chromosome 3 in Merkel cell carcinoma

J. Helen Leonard, Gareth Williams, Marilyn K. Walters, Derek J. Nancarrow, Pamela H. Rabbitts

Journal:

Genes, Chromosomes and Cancer

Year:

1996

Language:

english

File:

PDF, 404 KB

english, 1996

74

Loss of heterozygosity of chromosome 13 in Merkel cell carcinoma

J. Helen Leonard, Nicholas Hayward

Journal:

Genes, Chromosomes and Cancer

Year:

1997

Language:

english

File:

PDF, 107 KB

english, 1997

75

Spondylo-meta-epiphyseal dysplasia (SMED), short limb-hand type: A congenital familial skeletal dysplasia with distinctive features and histopathology

Dr. Zvi Borochowitz, Leonard O. Langer Jr., Helen E. Gruber, Ralph Lachman, Mariassa Bat-Miriam Katznelson, David L. Rimoin

Journal:

American Journal of Medical Genetics Part A

Year:

1993

Language:

english

File:

PDF, 3.22 MB

english, 1993

76

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

77

Prevalence of mitral valve prolapse in Stickler syndrome

Nadeem Ahmad, Allan J. Richards, Helen C. Murfett, Leonard Shapiro, John D. Scott, John R.W. Yates, Joanne Norton, Martin P. Snead

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 52 KB

english, 2003

78

NTNG1 mutations are a rare cause of Rett syndrome

Hayley L. Archer, Julie C. Evans, David S. Millar, Peter W. Thompson, Alison M. Kerr, Helen Leonard, John Christodoulou, David Ravine, Lazarus Lazarou, Lucy Grove, Christopher Verity, Sharon D. Whatle

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 86 KB

english, 2006

79

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

80

Atypical presentations and specific genotypes are associated with a delay in diagnosis in females with Rett syndrome

Stephanie Fehr, Jenny Downs, Ami Bebbington, Helen Leonard

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 121 KB

english, 2010

81

Barriers to diagnosis of a rare neurological disorder in China—Lived experiences of Rett syndrome families

Faye Lim, Jenny Downs, Jianghong Li, Xin-Hua Bao, Helen Leonard

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 123 KB

english, 2012

82

The diagnostic odyssey to Rett syndrome: The experience of an Australian family

Marisa Knott, Helen Leonard, Jenny Downs

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 64 KB

english, 2012

83

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

84

De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): A new member of the expanding family of pyrin-associated autoinflammatory diseases

Ivona Aksentijevich, Miroslawa Nowak, Mustapha Mallah, Jae Jin Chae, Wendy T. Watford, Sigrun R. Hofmann, Leonard Stein, Ricardo Russo, Donald Goldsmith, Peter Dent, Helene F. Rosenberg, Frances Austi

Journal:

Arthritis & Rheumatism

Year:

2002

Language:

english

File:

PDF, 350 KB

english, 2002

85

Glutamylated and glycylated tubulin isoforms in the aberrant sperm axoneme of the gall-midge fly, Asphondylia ruebsaameni

Caterina Mencarelli, Daniela Caroti, Marie-Hélène Bré, Nicolette Levilliers, David Mercati, Leonard G. Robbins, Romano Dallai

Journal:

Year:

2004

Language:

english

File:

PDF, 716 KB

english, 2004

86

A Phase II trial of suramin monthly × 3 for hormone-refractory prostate carcinoma

Nicholas J. Vogelzang, Theodore Karrison, Walter M. Stadler, Juan Garcia, Helene Cohn, John Kugler, Thomas Troeger, Leonard Giannone, Rose Arrieta, Mark J. Ratain, Everett E. Vokes

Journal:

Year:

2004

Language:

english

File:

PDF, 87 KB

english, 2004

87

Homozygosity for a null allele of the insulin receptor gene in a patient with leprechaunism

Jennifer Hone, Domenico Accili, Helen Psiachou, Jamie Alghband-Zadeh, Sally Mitton, Efrat Wertheimer, Leonard Sinclair, Simeon I. Taylor

Journal:

Year:

1995

Language:

english

File:

PDF, 600 KB

english, 1995

88

Combined karyotyping, CGH and M-FISH analysis allows detailed characterization of unidentified chromosomal rearrangements in Merkel cell carcinoma

Mireille Van Gele, J. Helen Leonard, Nadine Van Roy, Heidi Van Limbergen, Simon Van Belle, Veronique Cocquyt, Helen Salwen, Anne De Paepe, Frank Speleman

Journal:

International Journal of Cancer

Year:

2002

Language:

english

File:

PDF, 538 KB

english, 2002

89

Frequent allelic loss at 10q23 but low incidence of PTEN mutations in merkel cell carcinoma

Mireille Van Gele, J. Helen Leonard, Nadine Van Roy, Anthony L. Cook, Anne De Paepe, Frank Speleman

Journal:

International Journal of Cancer

Year:

2001

Language:

english

File:

PDF, 75 KB

english, 2001

90

CDKN2A is not the principal target of deletions on the short arm of chromosome 9 in neuroendocrine (Merkel cell) carcinoma of the skin

Anthony L. Cook, Pamela M. Pollock, John Welch, Michael D. Walsh, Rayleen V. Bowman, Kathryn C. Baumann, Nicholas K. Hayward, J. Helen Leonard

Journal:

International Journal of Cancer

Year:

2001

Language:

english

File:

PDF, 637 KB

english, 2001

91

Monoclonal antibody against a tumor-associated sialoglycoprotein of superficial papillary bladder tumors and cervical condylomas

Yves Fradet, Hélène Larue, Carmen Parent-Vaugeois, Alain Bergeron, Colette Dufour, Lucie Boucher, Léonard Bernier

Journal:

International Journal of Cancer

Year:

1990

Language:

english

File:

PDF, 1.42 MB

english, 1990

92

Prognostic significance of monoclonal antibody 3H-1 reactivity with squamous-cell head-and-neck cancers

John H. Kearsley, J. Helen Leonard, Hiroyuki Takahashi, Diana Battistutta, Peter G. Parsons, Denis J. Moss

Journal:

International Journal of Cancer

Year:

1991

Language:

english

File:

PDF, 664 KB

english, 1991

93

Characterization of a novel monoclonal antibody, 3H-1, reactive with squamoproliferative lesions and squamous-cell cancers

Peter G. Parsons, J. Helen Leonard, John H. Kearsley, Hiroyuki Takahashi, Xu Lin-Jian, Denis J. Moss

Journal:

International Journal of Cancer

Year:

1991

Language:

english

File:

PDF, 693 KB

english, 1991

94

Characterization of cell lines established from merkel-cell (“small-cell”) carcinoma of the skin

J. Helen Leonard, John R. Bell, John H. Kearsley

Journal:

International Journal of Cancer

Year:

1993

Language:

english

File:

PDF, 834 KB

english, 1993

95

Characterisation of four merkel cell carcinoma adherent cell lines

J. Helen Leonard, Peter Dash, Peter Holland, John H. Kearsley, John R. Bell

Journal:

International Journal of Cancer

Year:

1995

Language:

english

File:

PDF, 2.53 MB

english, 1995

96

Vectors based on reducible polycations facilitate intracellular release of nucleic acids

Martin L. Read, K. Helen Bremner, David Oupický, Nicola K. Green, Peter F. Searle, Leonard W. Seymour

Journal:

The Journal of Gene Medicine

Year:

2003

Language:

english

File:

PDF, 480 KB

english, 2003

97

Volunteer and coordinator perspectives on managing women volunteers

Rosemary Leonard, Jenny Onyx, Helen Hayward-Brown

Journal:

Nonprofit Management and Leadership

Year:

2004

Language:

english

File:

PDF, 98 KB

english, 2004

98

N.m.r. line shape-relaxation correlation analysis of bitumen and oil sands

Wladek T. Sobol, L.John Schreiner, Ljubis̆a Miljković, Maria E. Marcondes-Helene, Leonard W. Reeves, M.Mik Pintar

Journal:

Year:

1985

Language:

english

File:

PDF, 883 KB

english, 1985

99

Erratum to “A 28-day oral dose toxicity study enhanced to detect endocrine effects of a purified technical pentabromodiphenyl ether (pentaBDE) mixture in Wistar rats” [Toxicology 245 (2008) 109–122]

Leo T.M. van der Ven, Ton van de Kuil, Aart Verhoef, Pim E.G. Leonards, Wout Slob, Rocío F. Cantón, Silke Germer, Timo Hamers, Theo J. Visser, Sabina Litens, Helen Håkansson, Yvonne Fery, Dieter Schre

Journal:

Year:

2011

Language:

english

File:

PDF, 91 KB

english, 2011

100

Pharmacokinetic interaction between ritonavir and clarithromycin*

Ouellet, Danièle, Hsu, Ann, Granneman, G. Richard, Carlson, Glenn, Cavanaugh, John, Guenther, Helen, Leonard, John M.

Journal:

Clinical Pharmacology & Therapeutics

Year:

1998

Language:

english

File:

PDF, 810 KB

english, 1998