Pesquisa | BVS Educação Profissional em Saúde

1.

Psychosocial and supportive care needs of individuals with advanced myeloma.

Rowland, Suzanne; Forbes, Robin; Howell, Doris; Kelly, Helen; Haghayegh, Arta Taghavi; Cardinale, Maja; Ramnanan, Trisha; Mayo, Samantha J.

Can Oncol Nurs J ; 33(2): 215-222, 2023.

Artigo em Inglês | MEDLINE | ID: mdl-37152822

2.

Delivering multidisciplinary neuromuscular care for children via telehealth.

Carroll, Kate; Adams, Justine; de Valle, Katy; Forbes, Robin; Kennedy, Rachel A; Kornberg, Andrew J; Vandeleur, Moya; Villano, Daniella; Woodcock, Ian R; Yiu, Eppie M; Ryan, Monique M; Davidson, Zoe.

Muscle Nerve ; 66(1): 31-38, 2022 07.

Artigo em Inglês | MEDLINE | ID: mdl-35426158

3.

Communication about spinal muscular atrophy and genetic risk within families: An Australian pilot study.

Pieper, Ellen; Sexton, Adrienne; Ryan, Monique M; Forbes, Robin.

J Paediatr Child Health ; 56(8): 1263-1269, 2020 Aug.

Artigo em Inglês | MEDLINE | ID: mdl-32468641

4.

Nusinersen for SMA: expanded access programme.

Farrar, Michelle A; Teoh, Hooi Ling; Carey, Kate A; Cairns, Anita; Forbes, Robin; Herbert, Karen; Holland, Sandra; Jones, Kristi J; Menezes, Manoj P; Morrison, Margot; Munro, Kate; Villano, Daniella; Webster, Richard; Woodcock, Ian R; Yiu, Eppie M; Sampaio, Hugo; Ryan, Monique M.

J Neurol Neurosurg Psychiatry ; 89(9): 937-942, 2018 09.

Artigo em Inglês | MEDLINE | ID: mdl-29549190

5.

Besoins en soins psychosociaux et de soutien des personnes atteintes d'un myélome de stade avancé.

Rowland, Suzanne; Forbes, Robin; Howell, Doris; Kelly, Helen; Haghayegh, Arta Taghavi; Cardinale, Maja; Ramnanan, Trisha; Mayo, Samantha J.

Can Oncol Nurs J ; 33(2): 223-230, 2023.

Artigo em Francês | MEDLINE | ID: mdl-37152816

6.

Informed decision making and psychosocial outcomes in pregnant and nonpregnant women offered population fragile X carrier screening.

Metcalfe, Sylvia A; Martyn, Melissa; Ames, Alice; Anderson, Vicki; Archibald, Alison D; Couns, Grad Dip Gen; Carter, Rob; Cohen, Jonathan; Cotter, Megan; GenCouns, M; Dang, William; Delatycki, Martin B; Donath, Susan; Edwards, Samantha; Educ, PGrad Dip; Couns, Grad Dip Gen; Forbes, Robin; Couns, Grad Dip Gen; Gavrila, Mioara; MedSci, M; Halliday, Jane; Hickerton, Chriselle; Hill, Melissa; Couns, Grad Dip Gen; Jacobs, Lorilli; Ultrasound, PGrad Dip; Petrou, Vicki; Couns, Grad Dip Gen; Plunkett, Loren; GenCouns, M; Sheffield, Leslie; Racp, F; Thornton, Alison; Couns, Grad Dip Gen; Younie, Sandra; Econ, PGrad Dip Hlth; Emery, Jon D.

Genet Med ; 19(12): 1346-1355, 2017 12.

Artigo em Inglês | MEDLINE | ID: mdl-28661491

7.

'A short time but a lovely little short time': Bereaved parents' experiences of having a child with spinal muscular atrophy type 1.

Higgs, Emily J; McClaren, Belinda J; Sahhar, Margaret Ar; Ryan, Monique M; Forbes, Robin.

J Paediatr Child Health ; 52(1): 40-6, 2016 Jan.

Artigo em Inglês | MEDLINE | ID: mdl-26437687

8.

Rare homozygous disease-associated sequence variants in children with spinal muscular atrophy: a phenotypic description and review of the literature.

Li, Limin; Menezes, Manoj P; Smith, Melanie; Forbes, Robin; Züchner, Stephan; Burgess, Amber; Woodcock, Ian R; Delatycki, Martin B; Yiu, Eppie M.

Neuromuscul Disord ; 37: 29-35, 2024 Apr.

Artigo em Inglês | MEDLINE | ID: mdl-38520993

9.

5q31.3 Microdeletion syndrome: clinical and molecular characterization of two further cases.

Brown, Natasha; Burgess, Trent; Forbes, Robin; McGillivray, George; Kornberg, Andrew; Mandelstam, Simone; Stark, Zornitza.

Am J Med Genet A ; 161A(10): 2604-8, 2013 Oct.

Artigo em Inglês | MEDLINE | ID: mdl-23950017

10.

Phenotypic variability of distal 22q11.2 copy number abnormalities.

Tan, Tiong Yang; Collins, Amanda; James, Paul A; McGillivray, George; Stark, Zornitza; Gordon, Christopher T; Leventer, Richard J; Pope, Kate; Forbes, Robin; Crolla, John A; Ganesamoorthy, Devika; Burgess, Trent; Bruno, Damien L; Slater, Howard R; Farlie, Peter G; Amor, David J.

Am J Med Genet A ; 155A(7): 1623-33, 2011 Jul.

Artigo em Inglês | MEDLINE | ID: mdl-21671380

11.

Generating an iPSC line (with isogenic control) from the PBMCs of an ACTA1 (p.Gly148Asp) nemaline myopathy patient.

Houweling, Peter J; Coles, Chantal A; Tiong, Chrystal F; Nielsen, Bridget; Graham, Alison; McDonald, Penny; Suter, Annabelle; Piers, Adam T; Forbes, Robin; Ryan, Monique M; Howden, Sara E; Lamandé, Shireen R; North, Kathryn N.

Stem Cell Res ; 54: 102429, 2021 07.

Artigo em Inglês | MEDLINE | ID: mdl-34157503

12.

Novel quantitative trait loci for central corneal thickness identified by candidate gene analysis of osteogenesis imperfecta genes.

Dimasi, David P; Chen, Jern Y; Hewitt, Alex W; Klebe, Sonja; Davey, Richard; Stirling, John; Thompson, Elizabeth; Forbes, Robin; Tan, Tiong Y; Savarirayan, Ravi; Mackey, David A; Healey, Paul R; Mitchell, Paul; Burdon, Kathryn P; Craig, Jamie E.

Hum Genet ; 127(1): 33-44, 2010 Jan.

Artigo em Inglês | MEDLINE | ID: mdl-19714363

13.

False Negative Carrier Screening in Spinal Muscular Atrophy.

Butcher, Sophie; Smith, Melanie; Woodcock, Ian R; Delatycki, Martin; Ryan, Monique M; Forbes, Robin.

J Child Neurol ; 35(4): 274-277, 2020 03.

Artigo em Inglês | MEDLINE | ID: mdl-31858866

14.

Clinical and Molecular Differences between 4-Year-Old Monozygous Male Twins Mosaic for Normal, Premutation and Fragile X Full Mutation Alleles.

Pandelache, Alison; Baker, Emma K; Aliaga, Solange M; Arpone, Marta; Forbes, Robin; Stark, Zornitza; Francis, David; Godler, David E.

Genes (Basel) ; 10(4)2019 04 05.

Artigo em Inglês | MEDLINE | ID: mdl-30959842

15.

Consumer contribution to the delivery of genetic health services.

Nisselle, Amy; Forbes, Robin; Bankier, Agnes; Hughes, Eilís; Aitken, Maryanne.

Am J Med Genet A ; 146A(17): 2266-74, 2008 Sep 01.

Artigo em Inglês | MEDLINE | ID: mdl-18697195

16.

Using record linkage and manual follow-up to evaluate the Victorian maternal serum screening quadruple test for Down's syndrome, trisomy 18 and neural tube defects.

Jaques, Alice M; Collins, Veronica R; Haynes, Kerry; Sheffield, Leslie J; Francis, Ivan; Forbes, Robin; Halliday, Jane L.

J Med Screen ; 13(1): 8-13, 2006.

Artigo em Inglês | MEDLINE | ID: mdl-16569299

17.

X-linked Recessive Distal Myopathy With Hypertrophic Cardiomyopathy Caused by a Novel Mutation in the FHL1 Gene.

D'Arcy, Colleen; Kanellakis, Voula; Forbes, Robin; Wilding, Brendan; McGrath, Meagan; Howell, Katherine; Ryan, Monique; McLean, Catriona.

J Child Neurol ; 30(9): 1211-7, 2015 Aug.

Artigo em Inglês | MEDLINE | ID: mdl-25246303

18.

Letter to the editor journal of genetic counseling. When you care enough to do your very best: genetic counselor experiences of compassion fatigue.

Sahhar, Margaret; Bogwitz, Michael; Brown, Erica; Forbes, Robin; Greenberg, Jacqueline; Hossack, Lucinda; Menezes, Melody.

J Genet Couns ; 17(1): 139-40; author reply 141-2, 2008 Feb.

Artigo em Inglês | MEDLINE | ID: mdl-17943426

19.

Community-wide screening for cystic fibrosis carriers could replace newborn screening for the diagnosis of cystic fibrosis.

Massie, John; Forbes, Robin; Dusart, Desiree; Bankier, Agnes; Delatycki, Martin B.

J Paediatr Child Health ; 43(11): 721-3, 2007 Nov.

Artigo em Inglês | MEDLINE | ID: mdl-17924936

20.

Resolution of fibrinolysis.

Forbes, Robin D; Nimmo, Alastair F.

J Cardiothorac Vasc Anesth ; 16(6): 791-2, 2002 Dec.

Artigo em Inglês | MEDLINE | ID: mdl-12486670

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