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E Lindsay

Imperial College London

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Featured researches published by E Lindsay.

The Lancet | 1992

Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus

Peter J. Scambler; D Kelly; E Lindsay; R. Williamson; Rosalie Goldberg; Robert J. Shprintzen; David I. Wilson; Judith A. Goodship; I.E Cross; John Burn

The large clinical overlap between DiGeorge syndrome and velo-cardio-facial syndrome suggests an aetiological connection. DiGeorge syndrome is associated with microdeletions of chromosome 22q11 and is therefore likely to be caused by reduced dosage of genes within this region. We present preliminary data that velocardiofacial syndrome patients have similar chromosome deletions, a finding consistent with the hypothesis that these disorders represent part of a spectrum of abnormalities seen with monosomy for 22q11.

Nature , 401 pp. 97-101. (2001) | 2001

Tbx1 haploinsufficiency identified by functional scanning of the DiGeorge syndrome region is the cause of aortic arch defects in mice.

E Lindsay; Francesca Vitelli; Hong Su; Masae Morishima; Tuong Huynh; Tiziano Pramparo; Jurecic; George Ogunrinu; Helen F. Sutherland; Peter J. Scambler; Allan Bradley; Antonio Baldini

Mammalian Genome , 7 pp. 639-643. (1996) | 1996

Cloning and comparative mapping of a gene deleted in DiGeorge and velocardiofacial syndromes conserved in the C.elegans genome.

Patrizia Rizzu; E Lindsay; Catherine Taylor; H O'Donnell; Peter J. Scambler; Antonio Baldini

American Journal of Human Genetics | 1991

MOLECULAR STUDIES OF MONOSOMY-22Q11 AND ITS CLINICAL CONSEQUENCES

Pj Scambler; S Halford; R Wadey; E Lindsay; D Kelly; David I. Wilson; J Goodship; John Burn; Rosalie Goldberg; Robert J. Shprintzen; R. Williamson; Alisoun H. Carey

DEVELOPMENTAL MECHANISMS OF HEART DISEASE | 1995

CATCH-22 - CAN MOLECULAR GENETICS EXPLAIN THE PHENOTYPE

S Halford; R Wadey; Catherine Roberts; Daw Scm.; Ja Whiting; H O'Donnell; Ian Dunham; David R. Bentley; E Lindsay; Antonio Baldini; Fiona Francis; Hans Lehrach; R. Williamson; David I. Wilson; J Goodship; I Cross; John Burn; Peter J. Scambler

Genetics Research | 2008

Gbx2: a modifier of Tbx1 happloinsufficiency phenotype

Amélie Calmont; Sarah Ivins; Catherine Roberts; Kl Van Bueren; E Lindsay; Antonio Baldini; Peter J. Scambler

In: GENETICAL RESEARCH. (pp. 73 - 73). CAMBRIDGE UNIV PRESS (2006) | 2006

Identification of potential Tbx1 targets in a mouse model of DiGeorge syndrome

Kl Van Bueren; Sarah Ivins; Catherine Roberts; Chela James; E Lindsay; Antonio Baldini; Peter J. Scambler

In: JOURNAL OF MEDICAL GENETICS. (pp. S20 - S20). BRITISH MED JOURNAL PUBL GROUP (2002) | 2002

22q11 deletion syndrome and the role of the TBX1 transcription

Peter J. Scambler; Sarah Ivins; Paris Ataliotis; Katrina Prescott; B Latinkic; Timothy J. Mohun; E Lindsay; Tiziano Pramparo; Antonio Baldini

Genomics , 32 pp. 104-112. (1996) | 1996

A transcription map in the CATCH22 critical region.

E Lindsay; Patrizia Rizzu; R. Antonacci; Jurecic; J Delmasmata; C-C Lee; U-J Kim; Peter J. Scambler; Antonio Baldini

American Journal of Human Genetics | 1995

VELO-CARDIO-FACIAL SYNDROME AND CATCH22 - 5 DISTINCT TRANSCRIPTS EXPRESSED IN HEART IDENTIFIED, MAPPED AND ORDERED IN THE CRITICAL REGION

E Lindsay; Patrizia Rizzu; R. Antonacci; Jurecic; J Delmasmata; U-J Kim; Peter J. Scambler; Antonio Baldini

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Peter J. Scambler

University College London

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Antonio Baldini

National Research Council

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Catherine Roberts

University College London

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David I. Wilson

University of Southampton

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R Wadey

University College London

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S Halford

Imperial College London

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H O'Donnell

Yeshiva University

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Ian Dunham

European Bioinformatics Institute

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R. Williamson

Imperial College London

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Sarah Ivins

UCL Institute of Child Health

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