DONNAI, D.: search on Z-Library

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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

Fetal phenytoin exposure, hypoplastic nails, and jitteriness.

D'Souza, S W, Robertson, I G, Donnai, D, Mawer, G

Journal:

Archives of Disease in Childhood

Year:

1991

Language:

english

File:

PDF, 909 KB

english, 1991

3

Dysmorphology and the ESHG

Journal:

European Journal of Human Genetics

Year:

2017

Language:

english

File:

PDF, 124 KB

english, 2017

4

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

5

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

6

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

7

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

8

The mutational spectrum in Waardenburg syndrome

Tassabehji, M., Newton, V. E., Liu, X.-Z., Brady, A., Donnai, D., Krajewska-Walasek, M., Murday, V., Norman, A., Obersztyn, E., Reardon, W., Rice, J. C., Trembath, R., Wieacker, P., Whiteford, M., Win

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 2.04 MB

english, 1995

9

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

10

Pitt-Rogers-Danks syndrome and Wolf-Hirschhorn syndrome

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 221 KB

english, 1996

11

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

12

Choanal atresia and hypothelia following methimazole exposure in utero: A second report

Wilson, L.C., Kerr, B.A., Wilkinson, R., Fossard, C., Donnai, D.

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 68 KB

english, 1998

13

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

14

Novel and recurrent mutations in the neurofibromatosis type 1 (NF1) gene

J Hudson, CL Wu, M Tassabehji, EM Summers, S Simon, M Super, D Donnai, N Thakker

Journal:

Year:

1997

Language:

english

File:

PDF, 70 KB

english, 1997

15

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

16

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

17

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

18

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

19

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

20

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

21

“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

22

Response to Drs. Cohen and Gorlin

A. M. Norman, D. Donnai

Journal:

American Journal of Medical Genetics Part A

Year:

1991

Language:

english

File:

PDF, 147 KB

english, 1991

23

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

24

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

25

Robertsonian translocations: Clues to imprinting

Journal:

American Journal of Medical Genetics Part A

Year:

1993

Language:

english

File:

PDF, 220 KB

english, 1993

26

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

27

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

28

Brachmann-de Lange syndrome. Delineation of the clinical phenotype

M. Ireland, D. Donnai, J. Burn

Journal:

American Journal of Medical Genetics Part A

Year:

1993

Language:

english

File:

PDF, 605 KB

english, 1993

29

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

30

Prenatal diagnosis of Smith-Lemli-Optiz syndrome

Dr. J. M. McGaughran, P. T. Clayton, K. A. Mills, S. Rimmer, L. Moore, D. Donnai

Journal:

American Journal of Medical Genetics Part A

Year:

1995

Language:

english

File:

PDF, 350 KB

english, 1995

31

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

32

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

33

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

34

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

35

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

36

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

37

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

38

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

39

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

40

Genetic Services

Journal:

Clinical Genetics

Year:

2002

Language:

english

File:

PDF, 85 KB

english, 2002

41

Dermoid cyst of the caecum

N. WILKINSON, A. CAIRNS, E.W. BENBOW, P. DONNAI, C.H. BUCKLEY

Journal:

Year:

1996

Language:

english

File:

PDF, 616 KB

english, 1996

42

Prenatal diagnosis of mandibulofacial dysostosis

K. H. Nicolaides, D. Johansson, D. Donnai, C. H. Rodeck

Journal:

Prenatal Diagnosis

Year:

1984

Language:

english

File:

PDF, 311 KB

english, 1984

43

Prune belly in trisomy 13

C. M. E. McKeown, D. Donnai

Journal:

Prenatal Diagnosis

Year:

1986

Language:

english

File:

PDF, 259 KB

english, 1986

44

Aryl sulphatase isoenzymes of chorionic villi: Implications for prenatal diagnosis

L. Giles, A. Cooper, B. Fowler, I. B. Sardharwalla, P. Donnai

Journal:

Prenatal Diagnosis

Year:

1987

Language:

english

File:

PDF, 377 KB

english, 1987

45

Krabbe's disease: First trimester diagnosis confirmed on cultured amniotic fluid cells and fetal tissues

L. Giles, A. Cooper, B. Fowler, I. B. Sardharwalla, P. Donnai

Journal:

Prenatal Diagnosis

Year:

1987

Language:

english

File:

PDF, 249 KB

english, 1987

46

First trimester prenatal diagnosis of Sandhoff's disease

L. Giles, A. Cooper, B. Fowler, I. B. Sardharwalla, P. Donnai

Journal:

Prenatal Diagnosis

Year:

1988

Language:

english

File:

PDF, 338 KB

english, 1988

47

First trimester diagnosis of methylmalonic aciduria

B. Fowler, L. Giles, I. B. Sardharwalla, P. Donnai, J. K. Clayton

Journal:

Prenatal Diagnosis

Year:

1988

Language:

english

File:

PDF, 412 KB

english, 1988

48

Examination of fetuses after induced abortion for fetal abnormality—a follow-up study

A. Medeira, A. Norman, J. Haslam, J. Clayton-Smith, D. Donnai

Journal:

Prenatal Diagnosis

Year:

1994

Language:

english

File:

PDF, 287 KB

english, 1994

49

Dysmorphic disorders — An overview

Journal:

Journal of Inherited Metabolic Disease

Year:

1994

Language:

english

File:

PDF, 424 KB

english, 1994

50

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

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