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1

Detection of five novel mutations of the cystic fibrosis transmembrane regulator (CFTR) gene in Pakistani patients with cystic fibrosis: Y569D, Q98X, 296+12(T>C), 1161delC and 621+2(T>C)

Geraldine Malone, Andrea Haworth, Martin J. Schwarz, Harry Cuppens, Maurice Super

Journal:

Year:

1998

Language:

english

File:

PDF, 198 KB

english, 1998

2

X marks the spot in hunt for autism genes

Journal:

Year:

2006

Language:

english

File:

PDF, 91 KB

english, 2006

3

Familial patent ductus arteriosus: A further case of CHAR syndrome

Slavotinek, Anne, Clayton-Smith, Jill, Super, Maurice

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 631 KB

english, 1997

4

Isoelectric focusing of serum in genetic counselling of families with cystic fibrosis

Dr. Maurice Super, Christine Swindlehurst

Journal:

American Journal of Medical Genetics Part A

Year:

1984

Language:

english

File:

PDF, 227 KB

english, 1984

5

Determination of maternal serum acetylcholinesterase in pregnancies with fetal neural tube defects

Journal:

Prenatal Diagnosis

Year:

1988

Language:

english

File:

PDF, 92 KB

english, 1988

6

Active cascade cystic fibrosis screening

Maurice Super, Andrea Haworth, Martin J. Schwarz

Journal:

Prenatal Diagnosis

Year:

1995

Language:

english

File:

PDF, 205 KB

english, 1995

7

Controlled trial of serum isoelectric focusing in the detection of the cystic fibrosis gene

David J. H. Brock, Caroline Hayward, Maurice Super

Journal:

Year:

1982

Language:

english

File:

PDF, 198 KB

english, 1982

8

A novel 5q11.2 deletion detected by microarray comparative genomic hybridisation in a child referred as a case of suspected 22q11 deletion syndrome

Katrina Prescott, Kathryn Woodfine, Paula Stubbs, Maurice Super, Bronwyn Kerr, Rodger Palmer, Nigel P. Carter, Peter Scambler

Journal:

Year:

2005

Language:

english

File:

PDF, 374 KB

english, 2005

9

CF screening

SUPER, MAURICE, SCHWARZ, MARTIN J., SARDHAWALLA, I. B.

Journal:

Year:

1990

File:

PDF, 607 KB

1990

10

Cranial hemihypertrophy with ipsilateral naevoid streaks, intellectual handicap and epilepsy: a report of two cases

G. P. McMullin, Maurice Super, Michael A. Clarke

Journal:

Clinical Genetics

Year:

1993

Language:

english

File:

PDF, 1.89 MB

english, 1993

11

CFTR and disease: implications for drug development

Journal:

Year:

2000

Language:

english

File:

PDF, 69 KB

english, 2000

12

δF508 heterozygosity and asthma

Maurice Super, Garry Hambleton, Dennis Corbett

Journal:

Year:

1998

Language:

english

File:

PDF, 37 KB

english, 1998

13

Cascade carrier-testing in cystic fibrosis

Theresa Roberts, Martin J Schwarz, Rowan Kerr-Liddell, Joanna L Hinks, Maurice Super

Journal:

Paediatric Respiratory Reviews

Year:

2003

Language:

english

File:

PDF, 100 KB

english, 2003

14

Genes, familial enuresis, and clinical management

Maurice Super, Robert J Postlethwaite

Journal:

Year:

1997

Language:

english

File:

PDF, 60 KB

english, 1997

15

Heterozygote advantage in cystic fibrosis: mosquito tests

Maurice Super, DirkJ. van Schalkwyk

Journal:

Clinical Genetics

Year:

1979

Language:

english

File:

PDF, 222 KB

english, 1979

16

Mutations of the Cystic Fibrosis Gene in Patients with Chronic Pancreatitis

Sharer, Nicholas, Schwarz, Martin, Malone, Geraldine, Howarth, Andrea, Painter, John, Super, Maurice, Braganza, Joan

Journal:

Boston Medical and Surgical Journal

Year:

1998

Language:

english

File:

PDF, 185 KB

english, 1998

17

Preventing neural tube defects

Super, Maurice, Summers, ElizabethM., Meylan, Beryl

Journal:

Year:

1991

Language:

english

File:

PDF, 307 KB

english, 1991

18

PRENATAL DIAGNOSIS OF CYSTIC FIBROSIS

Journal:

Year:

1986

Language:

english

File:

PDF, 176 KB

english, 1986

19

FIRST-TRIMESTER PRENATAL DIAGNOSIS OF CYSTIC FIBROSIS WITH LINKED DNA PROBES

Farrall, Martin, Rodeck, CharlesH., Stanier, Philip, Lissens, Willi, Watson, Eila, Law, Hai-Yang, Warren, Richard, Super, Maurice, Scambler, Peter, Wainwright, Brandon, Williamson, Robert

Journal:

Year:

1986

Language:

english

File:

PDF, 558 KB

english, 1986

20

AMNIOTIC FLUID ALKALINE PHOSPHATASE ISOENZYMES IN EARLY PRENATAL DIAGNOSIS OF CYSTIC FIBROSIS

Journal:

Year:

1983

Language:

english

File:

PDF, 281 KB

english, 1983

21

CLINIC EXPERIENCE OF PRENATAL DIAGNOSIS OF CYSTIC FIBROSIS BY USE OF LINKED DNA PROBES

Super, Maurice, Schwarz, M., Elles, R.G., Ivinson, A., Giles, L., Read, A.P., Harris, R.

Journal:

Year:

1987

Language:

english

File:

PDF, 396 KB

english, 1987

22

HAZARDS OF AMNIOCENTESIS

Super, Maurice, Summers, ElizabethM., Milner, A.D., Vyas, H.

Journal:

Year:

1982

Language:

english

File:

PDF, 160 KB

english, 1982

23

Non-directive genetic counselling

Super, Maurice, Pembrey, Marcus, Morrison, PatrickJ., Nevin, NormanC., Harris, Rodney, Hopkins, Anthony, Simms, Madeleine

Journal:

Year:

1991

Language:

english

File:

PDF, 508 KB

english, 1991

24

Genetic advances in cystic fibrosis: to screen, to treat or both?

Super, Maurice, Abbott, Janice

Journal:

Disability & Rehabilitation

Year:

1998

Language:

english

File:

PDF, 762 KB

english, 1998

25

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

26

End-Organ Dysfunction in Cystic Fibrosis

Arkwright, Peter D., Pravica, Vera, Geraghty, Philip J., Super, Maurice, Webb, A. Kevin, Schwarz, Martin, Hutchinson, Ian V.

Journal:

American Journal of Respiratory and Critical Care Medicine

Year:

2003

Language:

english

File:

PDF, 75 KB

english, 2003

27

Application of breath pentane analysis to monitor age-related change in free radical activity

JONES, MARTIN, SHIEL, NEIL, SUMMAN, MUKESH, SHARER, NICHOLAS M, HAMBLETON, GARY, SUPER, MAURICE, BRAGANZA, JOAN M

Journal:

Biochemical Society Transactions

Year:

1993

Language:

english

File:

PDF, 94 KB

english, 1993

28

The fragile X syndrome

Hirst, Mark C., Knight, Samantha J. L., Bell, Martyn V., Super, Maurice, Davies, Kay E.

Journal:

Clinical Science

Year:

1992

Language:

english

File:

PDF, 1.01 MB

english, 1992