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1

Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome

May Tassabehji, Zhi Ming Fang, Emma N. Hilton, Julie McGaughran, Zhongming Zhao, Charles E. de Bock, Emma Howard, Michael Malass, Dian Donnai, Ashish Diwan, Forbes D.C. Manson, Dédée Murrell, Raymond

Journal:

Year:

2008

Language:

english

File:

PDF, 602 KB

english, 2008

2

Dysmorphology and the ESHG

Journal:

European Journal of Human Genetics

Year:

2017

Language:

english

File:

PDF, 124 KB

english, 2017

3

Photographic documentation of syndrome diagnosis

Allanson, Judith, Hunter, Alasdair, Cassidy, Suzanne, Curry, Cynthia, Donnai, Dian, Fraser, Clarke, Gorlin, Robert, Graham, John, Hall, Bryan, Hall, Judith, Jones, Kenneth Lyons, Stevenson, Roger, Win

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 43 KB

english, 1997

4

Williams syndrome: From genotype through to the cognitive phenotype

Dian Donnai, Annette Karmiloff-Smith

Journal:

American Journal of Medical Genetics Part A

Year:

2000

Language:

english

File:

PDF, 235 KB

english, 2000

5

The eleventh Robert J. Gorlin conference on dysmorphology

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 24 KB

english, 2002

6

Orphanet Journal of Rare Diseases: Launch Editorial

Ségolène Aymé, Bruno Dallapiccola, Dian Donnai

Journal:

Orphanet Journal of Rare Diseases

Year:

2006

Language:

english

File:

PDF, 117 KB

english, 2006

7

Geleophysic dysplasia and Myhre syndrome: Reply to Luis E. Figuera

McGaughran, Julie, Donnai, Dian

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 84 KB

english, 1996

8

Diaphragmatic hernia-exomphalos-hypertelorism syndrome: A new case and further evidence of autosomal recessive inheritance

Gripp, Karen W., Donnai, Dian, Clericuzio, Carol L., McDonald-McGinn, Donna M., Guttenberg, Marta, Zackai, Elaine H.

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 215 KB

english, 1997

9

Biliary atresia in Kabuki syndrome

McGaughran, Julie M., Donnai, Dian, Clayton-Smith, Jill

Journal:

American Journal of Medical Genetics

Year:

2000

Language:

english

File:

PDF, 46 KB

english, 2000

10

Nine novel L1 CAM mutations in families with X-linked hydrocephalus

John R. MacFarlane, Jian-Sheng Du, Miriam E. Pepys, Simon Ramsden, Dian Donnai, Ruth Charlton, Christine Garrett, John Tolmie, John R. W. Yates, Caroline Berry, David Goudie, Anne Moncla, Peter Lunt,

Journal:

Year:

1997

Language:

english

File:

PDF, 226 KB

english, 1997

11

Phenotypic spectrum of interstitial 7p duplication in mosaic and non-mosaic forms

Helen Cox, Helen Stewart, Lucy Hall, Dian Donnai

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 3.76 MB

english, 2002

12

The Weissenbacher-Zweymüller, Stickler, and Marshall syndromes: Further evidence for their identity

Dr. Robin M. Winter, Michael Baraitser, K. M. Laurence, Dian Donnai, Christine M. Hall, John M. Opitz

Journal:

American Journal of Medical Genetics Part A

Year:

1983

Language:

english

File:

PDF, 591 KB

english, 1983

13

Brief clinical report: A further patient with the Pitt-Rogers-Danks syndrome of mental retardation, unusual face, and intrauterine growth retardation

Dr. Dian Donnai, John M. Opitz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Year:

1986

Language:

english

File:

PDF, 207 KB

english, 1986

14

Proteus syndrome: An expanded phenotype

Dr. Robin Dawn Clark, Dian Donnai, John Rogers, Jane Cooper, Michael Baraitser, John M. Opitz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Year:

1987

Language:

english

File:

PDF, 3.44 MB

english, 1987

15

Smith-Lemli-Opitz syndromes: Do they include the Pallister-Hall syndrome?

Dian Donnai, John Burn, Helen Hughes, John M. Opitz

Journal:

American Journal of Medical Genetics Part A

Year:

1987

Language:

english

File:

PDF, 165 KB

english, 1987

16

“Disorganization” gene in mutations

Robin M. Winter, Dian Donnai

Journal:

American Journal of Medical Genetics Part A

Year:

1990

Language:

english

File:

PDF, 90 KB

english, 1990

17

Recurrent Wiedemann-Beckwith syndrome with inversion of chromosome (11)(p11.2p15.5)

Andrew M Norman, Andrew P Read, Jill Clayton-Smith, Tony Andrews, Dian Donnai

Journal:

American Journal of Medical Genetics Part A

Year:

1992

Language:

english

File:

PDF, 258 KB

english, 1992

18

Monozygotic twinning and Wiedemann-Beckwith syndrome

Jill Clayton-Smith, Andrew P Read, Dian Donnai

Journal:

American Journal of Medical Genetics Part A

Year:

1992

Language:

english

File:

PDF, 399 KB

english, 1992

19

Robertsonian translocations: Clues to imprinting

Journal:

American Journal of Medical Genetics Part A

Year:

1993

Language:

english

File:

PDF, 220 KB

english, 1993

20

True telomeric translocation in a baby with the Prader-Willi phenotype

Dr. Ann Reeve, Andrew Norman, Paul Sinclair, Ruth Whittington-Smith, Yvonne Hamey, Dian Donnai, Andrew Read

Journal:

American Journal of Medical Genetics Part A

Year:

1993

Language:

english

File:

PDF, 540 KB

english, 1993

21

Diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, and sensorineural deafness: A newly recognized autosomal recessive disorder?

Dr. Dian Donnai, Margaret Barrow

Journal:

American Journal of Medical Genetics Part A

Year:

1993

Language:

english

File:

PDF, 383 KB

english, 1993

22

Spondylocarpotarsal synostosis syndrome (with or without unilateral unsegmented bar)

Leonard O. Langer Jr., Dr. Robert J. Gorlin, Dian Donnai, Ben C. J. Hamel, Carol Clericuzio

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 819 KB

english, 1994

23

Geleophysic dysplasia: A report of three affected boys—prenatal ultrasound does not detect recurrence

Dr. Elisabeth M. Rosser, Andrew R. Wilkinson, Jane A. Hurst, Julie M. McGaughran, Dian Donnai

Journal:

American Journal of Medical Genetics Part A

Year:

1995

Language:

english

File:

PDF, 468 KB

english, 1995

24

Further delineation of the phenotype associated with heterozygous mutations in ZFHX1B

Meredith Wilson, David Mowat, Florence Dastot-Le Moal, Valère Cacheux, Helena Kääriäinen, Danny Cass, Dian Donnai, Jill Clayton-Smith, Sharron Townshend, Cynthia Curry, Michael Gattas, Stephen Braddoc

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 295 KB

english, 2003

25

Professor Robin Michael Winter 1950–2004: An appreciation

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 70 KB

english, 2004

26

Symptomatic Chiari I malformation in Kabuki syndrome

Karen L. Ciprero, Jill Clayton-Smith, Dian Donnai, Robert A. Zimmerman, Elaine H. Zackai, Jeffrey E. Ming

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 82 KB

english, 2005

27

The emotional effects of genetic diseases: Implications for clinical genetics

Marion McAllister, Linda Davies, Katherine Payne, Stuart Nicholls, Dian Donnai, Rhona MacLeod

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 170 KB

english, 2007

28

Donnai–Barrow syndrome (DBS/FOAR) in a child with a homozygous LRP2 mutation due to complete chromosome 2 paternal isodisomy

Sibel Kantarci, Nicola K. Ragge, N. Simon Thomas, David O. Robinson, Kristin M. Noonan, Meaghan K. Russell, Dian Donnai, F. Lucy Raymond, Christopher A. Walsh, Patricia K. Donahoe, Barbara R. Pober

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 225 KB

english, 2008

29

A survey of TWIST for mutations in craniosynostosis reveals a variable length polyglycine tract in asymptomatic individuals

Navaratnam Elanko, Julie S. Sibbring, Kay A. Metcalfe, Jill Clayton-Smith, Dian Donnai, I. Karen Temple, Steven A. Wall, Andrew O.M. Wilkie

Journal:

Year:

2001

Language:

english

File:

PDF, 284 KB

english, 2001

30

Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations

Jennifer J. Johnston, Julie C. Sapp, Joyce T. Turner, David Amor, Salim Aftimos, Kyrieckos A. Aleck, Maureen Bocian, Joann N. Bodurtha, Gerald F. Cox, Cynthia J. Curry, Ruth Day, Dian Donnai, Michael

Journal:

Year:

2010

Language:

english

File:

PDF, 196 KB

english, 2010

31

X-inactivation and marker studies in three families with incontinentia pigmenti: implications for counselling and gene localisation

Hayley Woffendin, Tracy Jakins, Monique Jouet, Helen Stewart, Sarah Landy, Eric Haan, Ann Harris, Dian Donnai, Andrew Read, Sue Kenwrick

Journal:

Clinical Genetics

Year:

1999

Language:

english

File:

PDF, 549 KB

english, 1999

32

A loss-of-function mutation in the CFC domain ofTDGF1is associated with human forebrain defects

June M. de la Cruz, Richard N. Bamford, Rebecca D. Burdine, Erich Roessler, James A. Barkovich, Dian Donnai, Alexander F. Schier, Maximilian Muenke

Journal:

Year:

2002

Language:

english

File:

PDF, 191 KB

english, 2002

33

Dhavendra Kumar (ed): Genomics and clinical medicine

Journal:

Year:

2009

Language:

english

File:

PDF, 124 KB

english, 2009

34

Cytogenetic rearrangements involving the loss of theSonic Hedgehoggene at 7q36 cause holoprosencephaly

Erich Roessler, Deeann E. Ward, Karin Gaudenz, Elena Belloni, Steven W. Scherer, Dian Donnai, Jacqueline Siegel-Bartelt, Lap-Chee Tsui, M. Muenke

Journal:

Year:

1997

Language:

english

File:

PDF, 64 KB

english, 1997

35

Improving Service Evaluation in Clinical Genetics: Identifying Effects of Genetic Diseases on Individuals and Families

Marion McAllister, Katherine Payne, Stuart Nicholls, Rhona MacLeod, Dian Donnai, Linda M. Davies

Journal:

Journal of Genetic Counseling

Year:

2007

Language:

english

File:

PDF, 201 KB

english, 2007

36

Genetic contribution to neurodevelopmental disability: an overview

Journal:

Developmental Medicine & Child Neurology

Year:

2003

Language:

english

File:

PDF, 42 KB

english, 2003

37

Amniotic fluid acetylcholinesterase: a retrospective and prospective study of the qualitative method

A. P. READ, S. J. FENNELE, DIAN DONNAI, R. HARRIS

Journal:

BJOG: An International Journal of Obstetrics & Gynaecology

Year:

1982

Language:

english

File:

PDF, 527 KB

english, 1982

38

Outcome Measurement in Clinical Genetics Services: A Systematic Review of Validated Measures

Katherine Payne, Stuart Nicholls, Marion McAllister, Rhona MacLeod, Dian Donnai, Linda M. Davies

Journal:

Value in Health

Year:

2008

Language:

english

File:

PDF, 166 KB

english, 2008

39

What process attributes of clinical genetics services could maximise patient benefits?

McAllister, Marion, Payne, Katherine, MacLeod, Rhona, Nicholls, Stuart, Donnai, Dian, Davies, Linda

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 179 KB

english, 2008

40

Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3

Banka, Siddharth, Chervinsky, Elena, Newman, William G, Crow, Yanick J, Yeganeh, Shay, Yacobovich, Joanne, Donnai, Dian, Shalev, Stavit

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 292 KB

english, 2010

41

Deletion of MAOA and MAOB in a male patient causes severe developmental delay, intermittent hypotonia and stereotypical hand movements

Whibley, Annabel, Urquhart, Jill, Dore, Jonathan, Willatt, Lionel, Parkin, Georgina, Gaunt, Lorraine, Black, Graeme, Donnai, Dian, Raymond, F Lucy

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 416 KB

english, 2010

42

LIM–kinase deleted in Williams syndrome

Tassabehji, Mayada, Metcalfe, Kay, Fergusson, William D., Carette, Martin J.A., Dore, Jonathan K., Donnai, Dian, Read, Andrew P., Pröschel, C., Gutowski, N.J., Mao, Xin

Journal:

Nature Genetics

Year:

1996

File:

PDF, 251 KB

1996

43

A missense mutation confirms the L1 defect in X–linked hydrocephalus (HSAS)

Jouet, Monique, Rosenthal, André, MacFarlane, John, Kenwrick, Sue, Donnai, Dian

Journal:

Nature Genetics

Year:

1993

File:

PDF, 117 KB

1993

44

Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR

Ng, David, Thakker, Nalin, Corcoran, Connie M, Donnai, Dian, Perveen, Rahat, Schneider, Adele, Hadley, Donald W, Tifft, Cynthia, Zhang, Liqun, Wilkie, Andrew O M

Journal:

Nature Genetics

Year:

2004

Language:

english

File:

PDF, 1.07 MB

english, 2004

45

Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes

Kantarci, Sibel, Al-Gazali, Lihadh, Hill, R Sean, Donnai, Dian, Black, Graeme C M, Bieth, Eric, Chassaing, Nicolas, Lacombe, Didier, Devriendt, Koen, Teebi, Ahmad

Journal:

Nature Genetics

Year:

2007

Language:

english

File:

PDF, 236 KB

english, 2007

46

A transcription factor involved in skeletal muscle gene expression is deleted in patients with Williams syndrome

Tassabehji, Mayada, Carette, Martin, Wilmot, Carrie, Donnai, Dian, Read, Andrew P, Metcalfe, Kay

Journal:

European Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 646 KB

english, 1999

47

Professor Robin Michael Winter: 1950–2004. An appreciation

Journal:

European Journal of Human Genetics

Year:

2004

Language:

english

File:

PDF, 56 KB

english, 2004

48

Isolation and characterisation of GTF2IRD2, a novel fusion gene and member of the TFII-I family of transcription factors, deleted in Williams–Beuren syndrome

Tipney, Hannah J, Hinsley, Timothy A, Brass, Andrew, Metcalfe, Kay, Donnai, Dian, Tassabehji, May

Journal:

European Journal of Human Genetics

Year:

2004

Language:

english

File:

PDF, 475 KB

english, 2004

49

COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia

Kennedy, Jason, Jackson, Gail, Ramsden, Simon, Taylor, Jacky, Newman, William, Wright, Michael J, Donnai, Dian, Elles, Rob, Briggs, Michael D

Journal:

European Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 109 KB

english, 2005

50

Williams–Beuren Syndrome: More or less? Segmental duplications and deletions in the Williams–Beuren syndrome region provide new insights into language development

Tassabehji, May, Donnai, Dian

Journal:

European Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 56 KB

english, 2006