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1

Risk, causes, and outcomes of visual impairment after loss of vision in the non-amblyopic eye: a population-based study

Jugnoo S Rahi, Stuart Logan, Christine Timms, Isabelle Russell-Eggitt, David Taylor

Journal:

Year:

2002

Language:

english

File:

PDF, 93 KB

english, 2002

2

Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome

Collin, Gayle B., Marshall, Jan D., Ikeda, Akihiro, So, W. Venus, Russell-Eggitt, Isabelle, Maffei, Pietro, Beck, Sebastian, Boerkoel, Cornelius F., Sicolo, Nicola, Martin, Mitchell, Nishina, Patsy M.

Journal:

Nature Genetics

Year:

2002

Language:

english

File:

PDF, 592 KB

english, 2002

3

Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alström syndrome

Hearn, Tom, Renforth, Glenn L., Spalluto, Cosma, Hanley, Neil A., Piper, Karen, Brickwood, Sarah, White, Chris, Connolly, Vincent, Taylor, James F.N., Russell-Eggitt, Isabelle, Bonneau, Dominique, Wal

Journal:

Nature Genetics

Year:

2002

Language:

english

File:

PDF, 1.14 MB

english, 2002

4

Further delineation of pontocerebellar hypoplasia type 6 due to mutations in the gene encoding mitochondrial arginyl-tRNA synthetase,RARS2

Emma Glamuzina, Ruth Brown, Kieran Hogarth, Dawn Saunders, Isabelle Russell-Eggitt, Matthew Pitt, Carlos de Sousa, Shamima Rahman, Garry Brown, Stephanie Grunewald

Journal:

Journal of Inherited Metabolic Disease

Year:

2012

Language:

english

File:

PDF, 501 KB

english, 2012

5

Prediction of improved vision in the amblyopic eye after visual loss in the non-amblyopic eye

Jugnoo S Rahi, Stuart Logan, Mario Cortina Borja, Christine Timms, Isabelle Russell-Eggitt, David Taylor

Journal:

Year:

2002

Language:

english

File:

PDF, 56 KB

english, 2002

6

Further delineation of spondylometaphyseal dysplasia with cone-rod dystrophy

Sérgio B. Sousa, Isabelle Russell-Eggitt, Christine Hall, Bryan D. Hall, Raoul C.M. Hennekam

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 250 KB

english, 2008

7

Chronic papilloedema due to intra-orbital langerhans cell histiocytosis

Klaus Werner, Jon Pritchard, Marjatta Lappi, Isabelle Russell-Eggitt, Mervi Taskinen, Markku Heikinheimo

Journal:

Pediatric Blood & Cancer

Year:

2003

Language:

english

File:

PDF, 115 KB

english, 2003

8

Intraocular Langerhans cell histiocytosis in a neonate resulting in bilateral loss of vision

Kaan Boztug, Kwabena Frimpong-Ansah, Vasanta Rao Nanduri, Joanna Lawson, Isabelle Russell-Eggitt, Penelope Brock

Journal:

Pediatric Blood & Cancer

Year:

2006

Language:

english

File:

PDF, 83 KB

english, 2006

9

Saccadic instabilities in albinism without nystagmus

Chris Timms, Dorothy Thompson, Isabelle Russell-Eggitt, Richard Clement

Journal:

Experimental Brain Research

Year:

2006

Language:

english

File:

PDF, 272 KB

english, 2006

10

Tyrosinase gene mutations in oculocutaneous albinism

RichardA. King, Jacy Pietsch, JamesP. Fryer, Sarah Savage, MarciaJ. Brott, Isabelle Russell-Eggitt, C.Gail Summers, WilliamS. Oetting

Journal:

Year:

2003

Language:

english

File:

PDF, 373 KB

english, 2003

11

Congenital hypopituitarism: clinical, molecular and neuroradiological correlates

Ameeta Mehta, Peter C. Hindmarsh, Hiten Mehta, James P.G. Turton, Isabelle Russell-Eggitt, David Taylor, W.K. Chong, Mehul T. Dattani

Journal:

Clinical Endocrinology

Year:

2009

Language:

english

File:

PDF, 92 KB

english, 2009

12

Delayed visual maturation: an update

Isabelle Russell-Eggitt, , C M. Harris, , A. Kriss,

Journal:

Developmental Medicine & Child Neurology

Year:

1998

Language:

english

File:

PDF, 747 KB

english, 1998

13

Diagnosing children presenting with asymmetric pendular nystagmus

Fatima S Shawkat, Anthony Kriss, Isabelle Russell-Eggitt, David Taylor, Christopher Harris

Journal:

Developmental Medicine & Child Neurology

Year:

2001

Language:

english

File:

PDF, 171 KB

english, 2001

14

Joubert syndrome: long-term follow-up

Peter R Hodgkins, Christopher M Harris, Fatima S Shawkat, Dorothy A Thompson, Kling Chong, Christine Timms, Isabelle Russell-Eggitt, David S Taylor, †Anthony Kriss

Journal:

Developmental Medicine & Child Neurology

Year:

2004

Language:

english

File:

PDF, 93 KB

english, 2004

15

Oto-facio-cervical (OFC) syndrome is a contiguous gene deletion syndrome involvingEYA1: molecular analysis confirms allelism with BOR syndrome and further narrows the Duane syndrome critical region to 1

Rickard, Sarah, van't Hoff, William, Barnicoat, Angela, Russell-Eggitt, Isabelle, Winter, Robin, Bitner-Glindzicz, Maria, Parker, Michael

Journal:

Year:

2001

Language:

english

File:

PDF, 58 KB

english, 2001

16

Genotype-phenotype correlations seen in a cohort of British patients with Leber’s congenital amaurosis

Robert H. Henderson, Naushin Waseem, Andrew R. Webster, Isabelle Russell-Eggitt, David Taylor, Anthony T. Moore

Journal:

Journal of American Association for Pediatric Ophthalmology and Strabismus

Year:

2007

Language:

english

File:

PDF, 47 KB

english, 2007

17

Bilateral macular scars following intrauterine herpes simplex virus type 2 infection

Aeesha N.J. Malik, G. Darius Hildebrand, Rajnish Sekhri, Isabelle M. Russell-Eggitt

Journal:

Journal of American Association for Pediatric Ophthalmology and Strabismus

Year:

2008

Language:

english

File:

PDF, 355 KB

english, 2008

18

A clinical classification system for paravenous pigmentary chorioretinal atrophy (PPCRA) in childhood

Göran Darius Hildebrand, David Taylor, Dorothy Thompson, Isabelle Russell-Eggitt

Journal:

Journal of American Association for Pediatric Ophthalmology and Strabismus

Year:

2011

Language:

english

File:

PDF, 33 KB

english, 2011

19

CYP1B1-Related Anterior Segment Developmental Anomalies: Novel Mutations for Infantile Glaucoma and Von Hippel's Ulcer Revisited

Daniel Kelberman, Lily Islam, Thomas S. Jacques, Isabelle Russell-Eggitt, Maria Bitner-Glindzicz, Peng T. Khaw, Ken K. Nischal, Jane C. Sowden

Journal:

Year:

2011

Language:

english

File:

PDF, 1.74 MB

english, 2011

20

Anophthalmos, Microphthalmos, and Coloboma in the United Kingdom: Clinical Features, Results of Investigations, and Early Management

Shaheen P. Shah, Amy E. Taylor, Jane C. Sowden, Nicky Ragge, Isabelle Russell-Eggitt, Jugnoo S. Rahi, Clare E. Gilbert

Journal:

Year:

2012

Language:

english

File:

PDF, 335 KB

english, 2012

21

Chorioretinal lesions in patients and carriers of chronic granulomatous disease

David Goldblatt, Jeremy Butcher, Adrian J. Thrasher, Isabelle Russell-Eggitt

Journal:

The Journal of Pediatrics

Year:

1999

Language:

english

File:

PDF, 353 KB

english, 1999

22

The Morphology and Natural History of Childhood Cataracts

Luis Amaya, David Taylor, Isabelle Russell-Eggitt, Ken K Nischal, Dora Lengyel

Journal:

Survey of Ophthalmology

Year:

2003

Language:

english

File:

PDF, 792 KB

english, 2003

23

Alström syndrome: Report of 22 cases and literature review

Isabelle M Russell-Eggitt, Peter T Clayton, Rebecca Coffey, Anthony Kriss, David S.I Taylor, James F.N Taylor

Journal:

Year:

1998

Language:

english

File:

PDF, 787 KB

english, 1998

24

Visual-evoked potential evidence of chiasmal hypoplasia

Dorothy A Thompson, Anthony Kriss, Kling Chong, Christopher Harris, Isabelle Russell-Eggitt, Fatima Shawkat, Brian G.R Neville, Wagih Aclimandos, David S.I Taylor

Journal:

Year:

1999

Language:

english

File:

PDF, 444 KB

english, 1999

25

Mutations in a Novel Gene, NHS, Cause the Pleiotropic Effects of Nance-Horan Syndrome, Including Severe Congenital Cataract, Dental Anomalies, and Mental Retardation

Kathryn P. Burdon, James D. McKay, Michèle M. Sale, Isabelle M. Russell-Eggitt, David A. Mackey, M. Gabriela Wirth, James E. Elder, Alan Nicoll, Michael P. Clarke, Liesel M. FitzGerald, James M. Stank

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 719 KB

english, 2003

26

Heterozygous Mutations of OTX2 Cause Severe Ocular Malformations

Nicola K. Ragge, Alison G. Brown, Charlotte M. Poloschek, Birgit Lorenz, R. Alex Henderson, Michael P. Clarke, Isabelle Russell-Eggitt, Alistair Fielder, Dianne Gerrelli, Juan Pedro Martinez-Barbera,

Journal:

The American Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 7.34 MB

english, 2005

27

The blind kidney: disorders affecting kidneys and eyes

Isabelle Russell-Eggitt, Detlef Bockenhauer

Journal:

Pediatric Nephrology

Year:

2013

Language:

english

File:

PDF, 304 KB

english, 2013

28

Retinal characteristics of the congenital disorder of glycosylation PMM2-CDG

Thompson, Dorothy A., Lyons, Ruth J., Russell-Eggitt, Isabelle, Liasis, Alki, Jägle, Herbert, Grünewald, Stephanie

Journal:

Journal of Inherited Metabolic Disease

Year:

2013

Language:

english

File:

PDF, 513 KB

english, 2013

29

Review of aphakic glaucoma after surgery for congenital cataract

Russell-Eggitt, Isabelle, Zamiri, Parisa

Journal:

Journal of Cataract & Refractive Surgery

Year:

1997

Language:

english

File:

PDF, 491 KB

english, 1997

30

Visual Impairment Owing to Adverse Drug Reaction: Incidence and Routine Monitoring in the United Kingdom

Cumberland, Phillippa M., Russell-Eggitt, Isabelle, Rahi, Jugnoo S.

Journal:

Year:

2014

Language:

english

File:

PDF, 92 KB

english, 2014

31

Autosomal recessive cerebellar hypoplasia

Harris, Christopher M., Kriss, Anthony, Russell-Eggitt, Isabelle

Journal:

Pediatric Neurology

Year:

1993

Language:

english

File:

PDF, 49 KB

english, 1993

32

The Optokinetic Response Differences between Congenital Profound and Nonprofound Unilateral Visual Deprivation

Shawkat, Fatima S., Harris, Christopher M., Taylor, David S.I., Thompson, Dorothy A., Russell-Eggitt, Isabelle, Kriss, Anthony

Journal:

Year:

1995

Language:

english

File:

PDF, 812 KB

english, 1995

33

Pharmaceutical management of the childhood glaucomas

R Talbot, A William, Russell-Eggitt, Isabelle

Journal:

Expert Opinion on Pharmacotherapy

Year:

2000

Language:

english

File:

PDF, 186 KB

english, 2000

34

Familial pseudoxanthoma elasticum

Smith, Lindsey F.F., Russell-Eggitt, Isabelle, Harper, John

Journal:

Ophthalmic Genetics

Year:

1998

Language:

english

File:

PDF, 100 KB

english, 1998

35

Microphthalmos in a family

Russell-Eggitt, Isabelle, Fielder, A. R., Levene, M. I., Young, I. D.

Journal:

Ophthalmic Genetics

Year:

1985

Language:

english

File:

PDF, 1009 KB

english, 1985

36

Risks and outcomes associated with primary intraocular lens implantation in children under 2 years old with congenital and infantile cataract: the UK and Ireland IoLunder2 cohort study

Solebo, Ameenat Lola, Russell-Eggitt, Isabelle, Cumberland, Phillippa M, Rahi, Jugnoo S

Journal:

Year:

2014

Language:

english

File:

PDF, 49 KB

english, 2014

37

Childhood albinism Visual electrophysiological features

Kriss, A., Russell-Eggitt, Isabelle, Taylor, David

Journal:

Ophthalmic Genetics

Year:

1990

Language:

english

File:

PDF, 401 KB

english, 1990

38

Anophthalmos, Microphthalmos, and Typical Coloboma in the United Kingdom: A Prospective Study of Incidence and Risk

Shah, Shaheen P., Taylor, Amy E., Sowden, Jane C., Ragge, Nicola K., Russell-Eggitt, Isabelle, Rahi, Jugnoo S., Gilbert, Clare E.

Journal:

Investigative Ophthalmology & Visual Science

Year:

2011

Language:

english

File:

PDF, 212 KB

english, 2011

39

An Assessment of the Apex Microarray Technology in Genotyping Patients with Leber Congenital Amaurosis and Early-Onset Severe Retinal Dystrophy

Henderson, Robert H., Waseem, Naushin, Searle, Rowan, van der Spuy, Jacqueline, Russell-Eggitt, Isabelle, Bhattacharya, Shomi S., Thompson, Dorothy A., Holder, Graham E., Cheetham, Michael E., Webster

Journal:

Investigative Ophthalmology & Visual Science

Year:

2007

Language:

english

File:

PDF, 165 KB

english, 2007

40

Chromosomal Abnormalities and Glaucoma: A Case of Congenital Glaucoma Associated with 9p Deletion Syndrome

Saha, Konal, Lloyd, Ian Christopher, Russell-Eggitt, Isabelle Mary, Taylor, David Samuel Irving

Journal:

Ophthalmic Genetics

Year:

2007

Language:

english

File:

PDF, 2.19 MB

english, 2007

41

Homozygosity for piebaldism with a proven KIT mutation resulting in depigmentation of the skin and hair, deafness, developmental delay and autism spectrum disorder

Kilsby, Amanda J., Cruwys, Michele, Kukendrajah, Chelvi, Russell-Eggitt, Isabelle, Raglan, Ewa, Rajput, Kaukab, Loshe, Peter, Brady, Angela F.

Journal:

Clinical Dysmorphology

Year:

2013

Language:

english

File:

PDF, 341 KB

english, 2013

42

Study of Optimal Perimetric Testing In Children (OPTIC)

Patel, Dipesh E., Cumberland, Phillippa M., Walters, Bronwen C., Russell-Eggitt, Isabelle, Cortina-Borja, Mario, Rahi, Jugnoo S.

Journal:

Year:

2015

Language:

english

File:

PDF, 1.80 MB

english, 2015

43

Neuroradiological and Eye Movement Correlates in Children with Intermittent Saccade Failure: "Ocular Motor Apraxia"

Shawkat, Fatima, Kingsley, D., Kendall, B., Russell-Eggitt, Isabelle, Taylor, D., Harris, Chr.

Journal:

Neuropediatrics

Year:

1995

Language:

english

File:

PDF, 1.12 MB

english, 1995

44

Intrauterine infection and the eye

Russell-Eggitt, Isabelle, Lightman, Susan

Journal:

Year:

1992

Language:

english

File:

PDF, 380 KB

english, 1992

45

New Alström Syndrome Phenotypes Based on the Evaluation of 182 Cases

Marshall, Jan D., Bronson, Roderick T., Collin, Gayle B., Nordstrom, Anne D., Maffei, Pietro, Paisey, Richard B., Carey, Catherine, MacDermott, Seamus, Russell-Eggitt, Isabelle, Shea, Sarah E., Davis,

Journal:

Archives of Internal Medicine

Year:

2005

Language:

english

File:

PDF, 447 KB

english, 2005

46

Bilateral epiretinal membranes: a new finding in Hunter syndrome

Narita, Andrew S., Russell-eggitt, Isabelle

Journal:

Ophthalmic Genetics

Year:

1996

Language:

english

File:

PDF, 1.12 MB

english, 1996

47

Retinal On-Pathway Deficit in Congenital Disorder of Glycosylation Due to Phosphomannomutase Deficiency

Thompson, Dorothy A., Lyons, Ruth J., Liasis, Alki, Russell-Eggitt, Isabelle, Jägle, Herbert, Grünewald, Stephanie

Journal:

Archives of Ophthalmology

Year:

2012

Language:

english

File:

PDF, 544 KB

english, 2012

48

Congenital Heart Anomalies in Patients with Clefts of the Lip and/or Palate

Wyse, Richard K. H., Mars, Michael, Al-Mahdawi, Sahar, M. Russell-Eggitt, Isabelle, Blake, Kim D.

Journal:

The Cleft Palate-Craniofacial Journal

Year:

1990

File:

PDF, 528 KB

1990

49

Visual impairment and prolonged survival in a girl with Marshall???Smith syndrome

Deshpande, Charulata, Forrest, Michael, Russell-Eggitt, Isabelle, Hall, Christine M., Mehta, Ramesh, Paterson, Joan

Journal:

Clinical Dysmorphology

Year:

2006

Language:

english

File:

PDF, 126 KB

english, 2006

50

Active surveillance of visual impairment due to adverse drug reactions: findings from a national study in the United Kingdom

Cumberland, Phillippa M., Russell-Eggitt, Isabelle, Rahi, Jugnoo S.

Journal:

Pharmacology Research & Perspectives

Year:

2015

Language:

english

File:

PDF, 390 KB

english, 2015

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