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1

Lipedema: An inherited condition

Anne H. Child, Kristiana D. Gordon, Pip Sharpe, Glen Brice, Pia Ostergaard, Steve Jeffery, Peter S. Mortimer

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 245 KB

english, 2010

2

FLT 4 / VEGFR 3 and Milroy Disease: Novel Mutations, a Review of Published Variants and Database Update

Gordon, Kristiana, Spiden, Sarah L., Connell, Fiona C., Brice, Glen, Cottrell, Sally, Short, John, Taylor, Rohan, Jeffery, Steve, Mortimer, Peter S., Mansour, Sahar, Ostergaard, Pia

Journal:

Year:

2013

Language:

english

File:

PDF, 281 KB

english, 2013

3

The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations

Paolo Comeglio, Philip Johnson, Gavin Arno, Glen Brice, Alison Evans, José Aragon-Martin, Filipe Pereira da Silva, Anatoli Kiotsekoglou, Anne Child

Journal:

Year:

2007

Language:

english

File:

PDF, 188 KB

english, 2007

4

Emberger syndrome—Primary lymphedema with myelodysplasia: Report of seven new cases

Sahar Mansour, Fiona Connell, Colin Steward, Pia Ostergaard, Glen Brice, Sarah Smithson, Peter Lunt, Steve Jeffery, Inderjeet Dokal, Tom Vulliamy, Brenda Gibson, Shirley Hodgson, Sally Cottrell, Louis

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 233 KB

english, 2010

5

Primary lymphedema with coarctation of the aorta: Possible new syndrome or variant of Irons–Bianchi syndrome?

John S. Ferguson, Shymalar Gunatheesan, Glen Brice, Rob Hastings, Ruth Newbury-Ecob, Peter S. Mortimer, Sahar Mansour

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 151 KB

english, 2011

6

A novel homeobox mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome associated with brain, ocular, and dental phenotypes

Faisal Idrees, Agnes Bloch-Zupan, Samantha L. Free, Daniela Vaideanu, Pamela J. Thompson, Paul Ashley, Glen Brice, Paul Rutland, Maria Bitner-Glindzicz, Peng T. Khaw, Scott Fraser, Sanjay M. Sisodiya,

Journal:

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Year:

2006

Language:

english

File:

PDF, 252 KB

english, 2006

7

Detection of six novel FBN1 mutations in British patients affected by Marfan syndrome

Paolo Comeglio, Alison L. Evans, Glen W. Brice, Anne H. Child

Journal:

Year:

2001

Language:

english

File:

PDF, 146 KB

english, 2001

8

Erratum: Detection of six novel FBN1 mutations in British patients affected by Marfan syndrome

Paolo Comeglio, Alison L. Evans, Glen W. Brice, Anne H. Child

Journal:

Year:

2001

Language:

english

File:

PDF, 149 KB

english, 2001

9

Diagnostic Difficulties in lymphedema distichiasis

Journal:

Pediatric Dermatology

Year:

2003

Language:

english

File:

PDF, 233 KB

english, 2003

10

Perinatal diagnosis of a lymphoedema-distichiasis syndrome

Journal:

Prenatal Diagnosis

Year:

2008

Language:

english

File:

PDF, 29 KB

english, 2008

11

A major marker for normal tension glaucoma: association with polymorphisms in theOPA1gene

Tin Aung, Louise Ocaka, Neil D. Ebenezer, Alex G. Morris, Michael Krawczak, Dawn L. Thiselton, Christiane Alexander, Marcela Votruba, Glen Brice, Anne H. Child, Peter J. Francis, Roger A. Hitchings, O

Journal:

Year:

2002

Language:

english

File:

PDF, 100 KB

english, 2002

12

Investigating the association betweenOPA1polymorphisms and glaucoma: comparison between normal tension and high tension primary open angle glaucoma

Tin Aung, Louise Ocaka, Neil D. Ebenezer, Alex G. Morris, Glen Brice, Anne H. Child, Roger A. Hitchings, Ordan J. Lehmann, Shomi S. Bhattacharya

Journal:

Year:

2002

Language:

english

File:

PDF, 21 KB

english, 2002

13

Lymphoedema-distichiasis andFOXC2: unreported mutations, de novo mutation estimate, families without coding mutations

Carolyn Sholto-Douglas-Vernon, Rachel Bell, Glen Brice, Sahar Mansour, Mansoor Sarfarazi, Anne H. Child, Alberto Smith, Russell Mellor, Kevin Burnand, Peter Mortimer, Steve Jeffery

Journal:

Year:

2005

Language:

english

File:

PDF, 258 KB

english, 2005

14

Linkage and sequence analysis indicate thatCCBE1is mutated in recessively inherited generalised lymphatic dysplasia

Fiona Connell, Kamini Kalidas, Pia Ostergaard, Glen Brice, Tessa Homfray, Lesley Roberts, David J. Bunyan, Sally Mitton, Sahar Mansour, Peter Mortimer, Steve Jeffery, Lymphoedema Consortium

Journal:

Year:

2010

Language:

english

File:

PDF, 416 KB

english, 2010

15

Erratum to: Linkage and sequence analysis indicate thatCCBE1is mutated in recessively inherited generalised lymphatic dysplasia

Fiona Connell, Kamini Kalidas, Pia Ostergaard, Glen Brice, Tessa Homfray, Lesley Roberts, David J. Bunyan, Sally Mitton, Sahar Mansour, Peter Mortimer, Steve Jeffery, Lymphoedema Consortium

Journal:

Year:

2010

Language:

english

File:

PDF, 117 KB

english, 2010

16

Primary non-syndromic lymphoedema (Meige disease) is not caused by mutations in FOXC2

Rezaie, Tayebeh, Ghoroghchian, Rose, Bell, Rachel, Brice, Glen, Hasan, Ali, Burnand, Kevin, Vernon, Steve, Mansour, Sahar, Mortimer, Peter, Jeffery, Steve

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 113 KB

english, 2008

17

Phenotypic Characterization of Primary Lymphedema

Fiona Connell, Glen Brice, Peter Mortimer

Journal:

Annals of the New York Academy of Sciences

Year:

2008

Language:

english

File:

PDF, 147 KB

english, 2008

18

Sequence Analysis and Homology Modeling Suggest That Primary Congenital Glaucoma on 2p21 Results from Mutations Disrupting Either the Hinge Region or the Conserved Core Structures of Cytochrome P4501B1

Ivaylo Stoilov, A. Nurten Akarsu, Ihuoma Alozie, Anne Child, Magda Barsoum-Homsy, M. Erol Turacli, Meral Or, Richard A. Lewis, Nusret Ozdemir, Glen Brice, S. Gulderen Aktan, Line Chevrette, Miguel Coc

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 2.66 MB

english, 1998

19

Localization of the Fourth Locus (GLC1E) For Adult-Onset Primary Open-Angle Glaucoma to the 10p15-p14 Region

Mansoor Sarfarazi, Anne Child, Diliana Stoilova, Glen Brice, Trushna Desai, Ovidiu C. Trifan, Darmalingum Poinoosawmy, R. Pitts Crick

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 2.18 MB

english, 1998

20

Mapping of Primary Congenital Lymphedema to the 5q35.3 Region

Alison L. Evans, Glen Brice, Vihra Sotirova, Peter Mortimer, Joseph Beninson, Kevin Burnand, Jane Rosbotham, Anne Child, Mansoor Sarfarazi

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 1.45 MB

english, 1999

21

Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome)

Ostergaard, Pia, Simpson, Michael A, Connell, Fiona C, Steward, Colin G, Brice, Glen, Woollard, Wesley J, Dafou, Dimitra, Kilo, Tatjana, Smithson, Sarah, Lunt, Peter, Murday, Victoria A, Hodgson, Shir

Journal:

Nature Genetics

Year:

2011

Language:

english

File:

PDF, 386 KB

english, 2011

22

Novel Anterior Segment Phenotypes Resulting from Forkhead Gene Alterations: Evidence for Cross-Species Conservation of Function

Lehmann, Ordan J., Tuft, Stephen, Brice, Glen, Smith, Richard, Blixt, A°sa, Bell, Rachel, Johansson, Bengt, Jordan, Tim, Hitchings, Roger A., Khaw, Peng T., John, Simon W. M., Carlsson, Peter, Bhattac

Journal:

Investigative Ophthalmology & Visual Science

Year:

2003

Language:

english

File:

PDF, 448 KB

english, 2003

23

Living with Dementia:

Siegler, Eugenia L., Cotter, Valerie T., Goldberg-Glen, Robin, Brice, Nicole, Ellis, Nancy B.

Journal:

Gerontology & Geriatrics Education

Year:

1996

Language:

english

File:

PDF, 688 KB

english, 1996

24

The lymphatic phenotype in Turner syndrome: an evaluation of nineteen patients and literature review

Atton, Giles, Gordon, Kristiana, Brice, Glen, Keeley, Vaughan, Riches, Katie, Ostergaard, Pia, Mortimer, Peter, Mansour, Sahar

Journal:

European Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 1.37 MB

english, 2015

25

PSENEN and NCSTN Mutations in Familial Hidradenitis Suppurativa (Acne Inversa)

Pink, Andrew E, Simpson, Michael A, Brice, Glen W, Smith, Catherine H, Desai, Nemesha, Mortimer, Peter S, Barker, Jonathan N W N, Trembath, Richard C

Journal:

The Journal of Investigative Dermatology

Year:

2011

Language:

english

File:

PDF, 751 KB

english, 2011

26

The lymphatic phenotype in Noonan and Cardiofaciocutaneous syndrome

Joyce, Sarah, Gordon, Kristiana, Brice, Glen, Ostergaard, Pia, Nagaraja, Rani, Short, John, Moore, Sandra, Mortimer, Peter, Mansour, Sahar

Journal:

European Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 811 KB

english, 2015

27

Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis

Fotiou, Elisavet, Martin-Almedina, Silvia, Simpson, Michael A., Lin, Shin, Gordon, Kristiana, Brice, Glen, Atton, Giles, Jeffery, Iona, Rees, David C., Mignot, Cyril, Vogt, Julie, Homfray, Tessa, Snyd

Journal:

Nature Communications

Year:

2015

Language:

english

File:

PDF, 1.02 MB

english, 2015

28

Identification of a new ‘TIGR’ mutation in a family with juvenile-onset primary open angle glaucoma

Stoilova, Diliana, Child, Anne, Brice, Glen, Crick, R. Pitts, Fleck, B. W., Sarfarazi, Mansoor

Journal:

Ophthalmic Genetics

Year:

1997

Language:

english

File:

PDF, 1.65 MB

english, 1997

29

Comparison of incremental treadmill exercise and free range running

CROUTER, SCOTT, FOSTER, CARL, ESTEN, PHILLIP, BRICE, GLEN, PORCARI, JOHN P.

Journal:

Medicine & Science in Sports & Exercise

Year:

2001

Language:

english

File:

PDF, 70 KB

english, 2001

30

PREDICTING MAXIMAL HEART RATE THROUGH SUBMAXIMAL EXERCISE TESTS

V??vere, Andrea L., Foster, Carl, Brice, Glen, Martinez, Raymond, Porcari, John P.

Journal:

Journal of Cardiopulmonary Rehabilitation

Year:

2005

Language:

english

File:

PDF, 339 KB

english, 2005

31

Re: “Conjunctival Edema and Distichiasis in Association With Congenital Lymphedema of the Lower Legs”

Brice, Glen, Connell, Fiona, Mansour, Sahar, Jeffery, Steve, Mortimer, Peter

Journal:

Ophthalmic Plastic & Reconstructive Surgery

Year:

2010

Language:

english

File:

PDF, 568 KB

english, 2010

32

Clinical Features and Course of Patients with Glaucoma with the E50K Mutation in the Optineurin Gene

Aung, Tin, Rezaie, Tayebeh, Okada, Koji, Viswanathan, Ananth C., Child, Anne H., Brice, Glen, Bhattacharya, Shomi S., Lehmann, Ordan J., Sarfarazi, Mansoor, Hitchings, Roger A.

Journal:

Investigative Ophthalmology & Visual Science

Year:

2005

Language:

english

File:

PDF, 344 KB

english, 2005

33

Author Correction: Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis

Fotiou, Elisavet, Martin-Almedina, Silvia, Simpson, Michael A., Lin, Shin, Gordon, Kristiana, Brice, Glen, Atton, Giles, Jeffery, Iona, Rees, David C., Mignot, Cyril, Vogt, Julie, Homfray, Tessa, Snyd

Journal:

Nature Communications

Year:

2019

Language:

english

File:

PDF, 241 KB

english, 2019