Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 13

1.

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

Pandelache A, Baker EK, Aliaga SM, Arpone M, Forbes R, Stark Z, Francis D, Godler DE.

Genes (Basel). 2019 Apr 5;10(4). pii: E279. doi: 10.3390/genes10040279.

2.

Nusinersen for SMA: expanded access programme.

Farrar MA, Teoh HL, Carey KA, Cairns A, Forbes R, Herbert K, Holland S, Jones KJ, Menezes MP, Morrison M, Munro K, Villano D, Webster R, Woodcock IR, Yiu EM, Sampaio H, Ryan MM.

J Neurol Neurosurg Psychiatry. 2018 Sep;89(9):937-942. doi: 10.1136/jnnp-2017-317412. Epub 2018 Mar 16.

PMID:
29549190
3.

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

Metcalfe SA, Martyn M, Ames A, Anderson V, Archibald AD, Couns GDG, Carter R, Cohen J, Cotter M, GenCouns M, Dang W, Delatycki MB, Donath S, Edwards S, Educ PD, Couns GDG, Forbes R, Couns GDG, Gavrila M, MedSci M, Halliday J, Hickerton C, Hill M, Couns GDG, Jacobs L, Ultrasound PD, Petrou V, Couns GDG, Plunkett L, GenCouns M, Sheffield L, Racp F, Thornton A, Couns GDG, Younie S, Econ PDH, Emery JD.

Genet Med. 2017 Dec;19(12):1346-1355. doi: 10.1038/gim.2017.67. Epub 2017 Jun 29.

PMID:
28661491
4.

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

Higgs EJ, McClaren BJ, Sahhar MA, Ryan MM, Forbes R.

J Paediatr Child Health. 2016 Jan;52(1):40-6. doi: 10.1111/jpc.12993. Epub 2015 Sep 10.

PMID:
26437687
5.

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

D'Arcy C, Kanellakis V, Forbes R, Wilding B, McGrath M, Howell K, Ryan M, McLean C.

J Child Neurol. 2015 Aug;30(9):1211-7. doi: 10.1177/0883073814549807. Epub 2014 Sep 22.

PMID:
25246303
6.

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

Brown N, Burgess T, Forbes R, McGillivray G, Kornberg A, Mandelstam S, Stark Z.

Am J Med Genet A. 2013 Oct;161A(10):2604-8. doi: 10.1002/ajmg.a.36108. Epub 2013 Aug 15.

PMID:
23950017
7.

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

Tan TY, Collins A, James PA, McGillivray G, Stark Z, Gordon CT, Leventer RJ, Pope K, Forbes R, Crolla JA, Ganesamoorthy D, Burgess T, Bruno DL, Slater HR, Farlie PG, Amor DJ.

Am J Med Genet A. 2011 Jul;155A(7):1623-33. doi: 10.1002/ajmg.a.34051. Epub 2011 Jun 10.

PMID:
21671380
8.

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

Dimasi DP, Chen JY, Hewitt AW, Klebe S, Davey R, Stirling J, Thompson E, Forbes R, Tan TY, Savarirayan R, Mackey DA, Healey PR, Mitchell P, Burdon KP, Craig JE.

Hum Genet. 2010 Jan;127(1):33-44. doi: 10.1007/s00439-009-0729-3. Epub 2009 Aug 28.

PMID:
19714363
9.

Consumer contribution to the delivery of genetic health services.

Nisselle A, Forbes R, Bankier A, Hughes E, Aitken M.

Am J Med Genet A. 2008 Sep 1;146A(17):2266-74. doi: 10.1002/ajmg.a.32271.

PMID:
18697195
10.

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

Sahhar M, Bogwitz M, Brown E, Forbes R, Greenberg J, Hossack L, Menezes M.

J Genet Couns. 2008 Feb;17(1):139-40; author reply 141-2. Epub 2007 Oct 18. No abstract available.

PMID:
17943426
11.

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

Massie J, Forbes R, Dusart D, Bankier A, Delatycki MB.

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

PMID:
17924936
12.

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 AM, Collins VR, Haynes K, Sheffield LJ, Francis I, Forbes R, Halliday JL.

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

PMID:
16569299
13.

Resolution of fibrinolysis.

Forbes RD, Nimmo AF.

J Cardiothorac Vasc Anesth. 2002 Dec;16(6):791-2. No abstract available.

PMID:
12486670

Supplemental Content

Loading ...
Support Center