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1

Gene localization for oral-facial-digital syndrome type 1 (OFD1:MIM 311200) proximal toDXS85

Gedeon, Agi K., Oley, Christine, Nelson, John, Turner, Gillian, Mulley, J.C.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 129 KB

english, 1999

2

New syndrome? Basal cell carcinomas, coarse sparse hair, and milia

Christine A. Oley, Helen Sharpe, Dr. Georgia Chenevix-Trench

Journal:

American Journal of Medical Genetics Part A

Year:

1992

Language:

english

File:

PDF, 565 KB

english, 1992

3

Nevoid basal cell carcinoma syndrome: Review of 118 affected individuals

Dr. Susan Shanley, John Ratcliffe, Athel Hockey, Eric Haan, Christine Oley, David Ravine, Nicole Martin, Carol Wicking, Georgia Chenevix-Trench

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 947 KB

english, 1994

4

Crossover analysis in a British family suggests that Coffin-Lowry syndrome maps to a 3.4-cM interval in Xp22

Helen Bird, Amanda L. Collins, Christine Oley, Dr. Susan Lindsay

Journal:

American Journal of Medical Genetics Part A

Year:

1995

Language:

english

File:

PDF, 462 KB

english, 1995

5

Carpenter syndrome: extended RAB23 mutation spectrum and analysis of nonsense-mediated mRNA decay

Dagan Jenkins, Gareth Baynam, Luc De Catte, Nursel Elcioglu, Michael T. Gabbett, Louanne Hudgins, Jane A. Hurst, Fernanda Sarquis Jehee, Christine Oley, Andrew O. M. Wilkie

Journal:

Year:

2011

Language:

english

File:

PDF, 422 KB

english, 2011

6

Clinical and radiological findings in Schinzel–Giedion syndrome

Mudaffer AL-Mudaffer, Christine Oley, Sue Price, Ian Hayes, Alison Stewart, Christine M. Hall, William Reardon

Journal:

European Journal of Pediatrics

Year:

2008

Language:

english

File:

PDF, 1.54 MB

english, 2008

7

Fine mapping of the neurally expressed geneSOX14to human 3q23, relative to three congenital diseases

Murray Hargrave, Kristy James, Kerry Nield, Carmel Toomes, Kylie Georgas, Timothy Sullivan, Harriet T. F. M. Verzijl, Christine A. Oley, Melissa Little, Peter De Jonghe, Jennifer M. Kwon, Hannie Kreme

Journal:

Year:

2000

Language:

english

File:

PDF, 339 KB

english, 2000

8

Blepharophimosis: a recommendation for early surgery in patients with severe ptosis

Peter S Beckingsale, Timothy J Sullivan, Vincent A Wong, Christine Oley

Journal:

Clinical & Experimental Ophthalmology

Year:

2003

Language:

english

File:

PDF, 331 KB

english, 2003

9

Management of myopathic ptosis: Author reply

Vincent A. Wong, Timothy Sullivan, Peter S. Beckingsale, Christine Oley

Journal:

Year:

2004

Language:

english

File:

PDF, 37 KB

english, 2004

10

Management of myopathic ptosis: Author reply

Timothy J. Sullivan, Vincent A. Wong, Peter S. Beckingsale, Christine Oley

Journal:

Year:

2004

Language:

english

File:

PDF, 38 KB

english, 2004

11

Lacrimal outflow dysgenesis

Sonia J.Ahn Yuen, Christine Oley, Timothy J. Sullivan

Journal:

Year:

2004

Language:

english

File:

PDF, 238 KB

english, 2004

12

Management of myogenic ptosis

Vincent A Wong, Peter S Beckingsale, Christine A Oley, Timothy J Sullivan

Journal:

Year:

2002

Language:

english

File:

PDF, 277 KB

english, 2002

13

FOXL2 and BPES: Mutational Hotspots, Phenotypic Variability, and Revision of the Genotype-Phenotype Correlation

Elfride De Baere, Diane Beysen, Christine Oley, Birgit Lorenz, Julie Cocquet, Paul De Sutter, Koen Devriendt, Michael Dixon, Marc Fellous, Jean-Pierre Fryns, Arturo Garza, Christoffer Jonsrud, Pasi A.

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 849 KB

english, 2003

14

Mutations in the Embryonal Subunit of the Acetylcholine Receptor (CHRNG) Cause Lethal and Escobar Variants of Multiple Pterygium Syndrome

Neil V. Morgan, Louise A. Brueton, Phillip Cox, Marie T. Greally, John Tolmie, Shanaz Pasha, Irene A. Aligianis, Hans van Bokhoven, Tamas Marton, Lihadh Al-Gazali, Jenny E.V. Morton, Christine Oley, C

Journal:

The American Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 401 KB

english, 2006

15

Striking intrafamilial phenotypic variability in Aicardi-Goutières syndrome associated with the recurrent Asian founder mutation in RNASEH2C

Vogt, Julie, Agrawal, Shakti, Ibrahim, Zala, Southwood, Taunton R., Philip, Sunny, MacPherson, Lesley, Bhole, Malini V., Crow, Yanick J., Oley, Christine

Journal:

American Journal of Medical Genetics Part A

Year:

2013

Language:

english

File:

PDF, 126 KB

english, 2013

16

A Defect in Mitochondrial Electron-Transport Activity (NADH–Coenzyme Q Oxidoreductase) in Leber's Hereditary Optic Neuropathy

Parker, William Davis, Oley, Christine A., Parks, Janice K.

Journal:

Boston Medical and Surgical Journal

Year:

1989

File:

PDF, 525 KB

1989

17

A YAC contig in Xp21 containing the adrenal hypoplasia congenita and glycerol kinase deficiency genes

Walker, Ann P., Chelly, Jamel, Love, Donald R., Brush, Yumiko Ishikawa, Récan, Dominique, Chaussain, Jean-Louis, Oley, Christine A., Connor, J.Michael, Yates, John, Price, David A., Super, Maurice, Bo

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 4.11 MB

english, 1992