PETER SCAMBLER: search on Z-Library

The world's largest scientific articles store. 70,000,000+ articles for free.

Don't use scam websites

51

Transposition of the great arteries associated with deletion of chromosome 22q11

Salvatore Melchionda, Maria Cristina Digilio, Rita Mingarelli, Giuseppe Novelli, Peter Scambler, Bruno Marino, Bruno Dallapiccola

Journal:

The American Journal of Cardiology

Year:

1995

Language:

english

File:

PDF, 1.99 MB

english, 1995

52

Cloning, Chromosome Mapping and Expression Analysis of theHIRAgene fromDrosophila melanogaster

Roser Llevadot, Guillermo Marqués, Melanie Pritchard, Xavier#, Estivill, Alberto Ferrús, Peter Scambler

Journal:

Biochemical and Biophysical Research Communications

Year:

1998

Language:

english

File:

PDF, 362 KB

english, 1998

53

Molecular Cytogenetic Characterization of the DiGeorge Syndrome Region Using Fluorescence in Situ Hybridization

Elizabeth A. Lindsay, Stephanie Halford, Roy Wadey, Peter J. Scambler, Antonio Baldini

Journal:

Year:

1993

File:

PDF, 417 KB

1993

54

Mapping of the Tuple1 Gene to Mouse Chromosome 16A-B1

Marie-Genevieve Mattei, Stephanie Halford, Peter J. Scambler

Journal:

Year:

1994

File:

PDF, 66 KB

1994

55

A Transcription Map in the CATCH22 Critical Region: Identification, Mapping, and Ordering of Four Novel Transcripts Expressed in Heart

Elizabeth A. Lindsay, Patrizia Rizzu, Rachele Antonacci, Vesna Jurecic, Juan Delmas-Mata, Cheng-Chi Lee, Ung-Jin Kim, Peter J. Scambler, Antonio Baldini

Journal:

Year:

1996

Language:

english

File:

PDF, 214 KB

english, 1996

56

Identification of a New Human Catenin Gene Family Member (ARVCF) from the Region Deleted in Velo–Cardio–Facial Syndrome

Howard Sirotkin, Hilary O'Donnell, Ruchira DasGupta, Stephanie Halford, Bruno St. Jore, Anne Puech, Satish Parimoo, Bernice Morrow, Arthur Skoultchi, Sherman M. Weissman, Peter Scambler, Raju Kucherla

Journal:

Year:

1997

Language:

english

File:

PDF, 245 KB

english, 1997

57

Cloning and Comparative Mapping of the DiGeorge Syndrome Critical Region in the Mouse

Helen F. Sutherland, Ung-Jin Kim, Peter J. Scambler

Journal:

Year:

1998

Language:

english

File:

PDF, 274 KB

english, 1998

58

DiGeorge syndrome and related birth defects

Peter James Scambler

Journal:

Seminars in Developmental Biology

Year:

1994

File:

PDF, 442 KB

1994

59

Cloning and mapping of murine Nfe2l1

Judith Mckie, Karen Johnstone, Marie-Geneviève Mattei, Peter Scambler

Journal:

Year:

1995

Language:

english

File:

PDF, 470 KB

english, 1995

60

Cloning of the human heparan sulfate-N-deacetylase/N-sulfotransferase gene from the treacher Collins syndrome candidate region at 5q32–q33.1

Jill Dixon, Stacie K. Loftus, Amanda J. Gladwin, Peter J. Scambler, John J. Wasmuth, Michael J. Dixon

Journal:

Year:

1995

Language:

english

File:

PDF, 827 KB

english, 1995

61

A novel C2H2 zinc-finger protein gene (ZNF160) maps to human chromosome 19q13.3–q13.4

Stephanie Halford, Marie-Genevieve Mattei, Sara Daw, Peter J. Scambler

Journal:

Year:

1995

Language:

english

File:

PDF, 232 KB

english, 1995

62

Hyperdynamic Plasticity of Chromatin Proteins in Pluripotent Embryonic Stem Cells

Eran Meshorer, Dhananjay Yellajoshula, Eric George, Peter J. Scambler, David T. Brown, Tom Misteli

Journal:

Developmental Cell

Year:

2012

File:

PDF, 329 KB

2012

63

Microarray analysis detects differentially expressed genes in the pharyngeal region of mice lacking Tbx1

Sarah Ivins, Kelly Lammerts van Beuren, Catherine Roberts, Chela James, Elizabeth Lindsay, Antonio Baldini, Paris Ataliotis, Peter J. Scambler

Journal:

Developmental Biology

Year:

2005

Language:

english

File:

PDF, 460 KB

english, 2005

64

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

Kelly Lammerts van Bueren, Sarah Ivins, Catherine Roberts, Amelie Calmont, Kerra Pearce, Elizabeth Lindsay, Baldini, Peter Scambler

Journal:

Developmental Biology

Year:

2007

Language:

english

File:

PDF, 98 KB

english, 2007

65

Dissecting DiGeorge Syndrome: The interaction between Tbx1 and the retinoic acid pathway

Catherine Roberts, Sarah Ivins, Andrew C. Cook, Kelly Lammerts van Buren, Antonio Baldini, Peter J. Scambler

Journal:

Developmental Biology

Year:

2007

Language:

english

File:

PDF, 109 KB

english, 2007

66

Hes1 expression is reduced in Tbx1 null cells and is required for the development of structures affected in 22q11 deletion syndrome

Kelly Lammerts van Bueren, Irinna Papangeli, Francesca Rochais, Kerra Pearce, Catherine Roberts, Amelie Calmont, Dorota Szumska, Robert G. Kelly, Shoumo Bhattacharya, Peter J. Scambler

Journal:

Developmental Biology

Year:

2010

Language:

english

File:

PDF, 2.68 MB

english, 2010

67

The representation of heart development in the gene ontology

Varsha K. Khodiyar, David P. Hill, Doug Howe, Tanya Z. Berardini, Susan Tweedie, Philippa J. Talmud, Ross Breckenridge, Shoumo Bhattarcharya, Paul Riley, Peter Scambler, Ruth C. Lovering

Journal:

Developmental Biology

Year:

2011

Language:

english

File:

PDF, 564 KB

english, 2011

68

Detection of an Atypical 22q11 Deletion That Has No Overlap with the DiGeorge Syndrome Critical Region

HILARY O'DONNELL, CAROLE MCKEOWN, CLIVE GOULD, BERNICE MORROW, PETER SCAMBLER

Journal:

The American Journal of Human Genetics

Year:

1997

Language:

english

File:

PDF, 483 KB

english, 1997

69

Isolation and genomic characterization of the TUPLE1/HIRA gene of the pufferfish Fugu rubripes

Roser Llevadot, Xavier Estivill, Peter Scambler, Melanie Pritchard

Journal:

Year:

1998

Language:

english

File:

PDF, 315 KB

english, 1998

70

Deletions in HOXD13 Segregate with an Identical, Novel Foot Malformation in Two Unrelated Families

Frances Goodman, Maria-Luisa Giovannucci-Uzielli, Christine Hall, William Reardon, Robin Winter, Peter Scambler

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 760 KB

english, 1998

71

A 117-kb Microdeletion Removing HOXD9–HOXD13 and EVX2 Causes Synpolydactyly

Frances R. Goodman, Frank Majewski, Amanda L. Collins, Peter J. Scambler

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 766 KB

english, 2002

72

BBS4 Is a Minor Contributor to Bardet-Biedl Syndrome and May Also Participate in Triallelic Inheritance

Nicholas Katsanis, Erica R. Eichers, Stephen J. Ansley, Richard Alan Lewis, Hülya Kayserili, Bethan E. Hoskins, Peter J. Scambler, Philip L. Beales, James R. Lupski

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 2.61 MB

english, 2002

73

Genetic Interaction of BBS1 Mutations with Alleles at Other BBS Loci Can Result in Non-Mendelian Bardet-Biedl Syndrome

Philip L. Beales, Jose L. Badano, Alison J. Ross, Stephen J. Ansley, Bethan E. Hoskins, Brigitta Kirsten, Charles A. Mein, Philippe Froguel, Peter J. Scambler, Richard Alan Lewis, James R. Lupski, Nic

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 2.26 MB

english, 2003

74

Cloning of HOXD1 from unfertilised human oocytes and expression analyses during murine oogenesis and embryogenesis

Jolanta E. Pitera, Peter J. Milla, Peter Scambler, James Adjaye

Journal:

Mechanisms of Development

Year:

2001

Language:

english

File:

PDF, 485 KB

english, 2001

75

Enhanced tissue differentiation in the developing mouse brain using magnetic resonance micro-histology

Norris, Francesca C., Betts-Henderson, Joanne, Wells, Jack A., Cleary, Jon O., Siow, Bernard M., Walker-Samuel, Simon, McCue, Karen, Salomoni, Paolo, Scambler, Peter J., Lythgoe, Mark F.

Journal:

Magnetic Resonance in Medicine

Year:

2013

Language:

english

File:

PDF, 6.32 MB

english, 2013

76

Generation of mice with a conditional null fraser syndrome 1 ( fras1 ) allele

Pitera, Jolanta E., Turmaine, Mark, Woolf, Adrian S., Scambler, Peter J.

Journal:

Year:

2012

Language:

english

File:

PDF, 25 KB

english, 2012

77

COMT Val108/158Met Modifies Mismatch Negativity and Cognitive Function in 22q11 Deletion Syndrome

Kate Baker, Torsten Baldeweg, Sinthuja Sivagnanasundaram, Peter Scambler, David Skuse

Journal:

Biological Psychiatry

Year:

2005

Language:

english

File:

PDF, 395 KB

english, 2005

78

MOZ Regulates the Tbx1 Locus, and Moz Mutation Partially Phenocopies DiGeorge Syndrome

Voss, Anne K., Vanyai, Hannah K., Collin, Caitlin, Dixon, Mathew P., McLennan, Tamara J., Sheikh, Bilal N., Scambler, Peter, Thomas, Tim

Journal:

Developmental Cell

Year:

2012

Language:

english

File:

PDF, 2.07 MB

english, 2012

79

06-P036 Dissecting the embryonic requirement of the Notch pathway gene, Hes1, in the context of DiGeorge syndrome

Irinna Papangeli, Kelly Lammerts Van Bueren, Kerra Pearce, Catherine Roberts, Dorota Szumska, Shoumo Bhattacharya, Peter J. Scambler

Journal:

Mechanisms of Development

Year:

2009

Language:

english

File:

PDF, 37 KB

english, 2009

80

06-P002 Genetic interaction of tbx1 with the Notch pathway effector her6 is required for pharyngeal development in the zebrafish

Catherine Roberts, Kelly Lammerts van Bueren, Peter Scambler

Journal:

Mechanisms of Development

Year:

2009

Language:

english

File:

PDF, 88 KB

english, 2009

81

13-P005 Tbx1 controls cardiac neural crest cell migration during arch artery development by regulating Gbx2 expression in the pharyngeal ectoderm

Amelie Calmont, Sarah Ivins, Kelly Lammerts Van Bueren1, Irinna Papangeli, Vanessa Kyriakopoulou, William Andrews, James Martin, Anne Moon, Elizabeth Illingworth, Albert Basson, Peter Scambler

Journal:

Mechanisms of Development

Year:

2009

Language:

english

File:

PDF, 96 KB

english, 2009

82

Magnetic resonance virtual histology for embryos: 3D atlases for automated high-throughput phenotyping

Jon O. Cleary, Marc Modat, Francesca C. Norris, Anthony N. Price, Sujatha A. Jayakody, Juan Pedro Martinez-Barbera, Nicholas D.E. Greene, David J. Hawkes, Roger J. Ordidge, Peter J. Scambler, Sebastie

Journal:

Year:

2011

Language:

english

File:

PDF, 1.86 MB

english, 2011

83

Short-Rib Polydactyly and Jeune Syndromes Are Caused by Mutations in WDR60

McInerney-Leo, Aideen M., Schmidts, Miriam, Cortés, Claudio R., Leo, Paul J., Gener, Blanca, Courtney, Andrew D., Gardiner, Brooke, Harris, Jessica A., Lu, Yeping, Marshall, Mhairi, Scambler, Peter J.

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 1.38 MB

english, 2013

84

A coming of age: advanced imaging technologies for characterising the developing mouse

Norris, Francesca C., Wong, Michael D., Greene, Nicholas D.E., Scambler, Peter J., Weaver, Tom, Weninger, Wolfgang J., Mohun, Timothy J., Henkelman, R. Mark, Lythgoe, Mark F.

Journal:

Trends in Genetics

Year:

2013

Language:

english

File:

PDF, 4.30 MB

english, 2013

85

Deletions of human chromosome 22 and associated birth defects

Scambler, Peter J.

Journal:

Current Opinion in Genetics & Development

Year:

1993

Language:

english

File:

PDF, 726 KB

english, 1993

86

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

87

Novel exomphalos genetic mouse model: The importance of accurate phenotypic classification

Carnaghan, Helen, Roberts, Tom, Savery, Dawn, Norris, Francesca C., McCann, Conor J., Copp, Andrew J., Scambler, Peter J., Lythgoe, Mark F., Greene, Nicholas D., DeCoppi, Paolo, Burns, Alan J., Pierro

Journal:

Journal of Pediatric Surgery

Year:

2013

Language:

english

File:

PDF, 1.24 MB

english, 2013

88

Cloning the mouse homolog of the human cystic fibrosis transmembrane conductance regulator gene

Tata, Frederick, Stanier, Philip, Wicking, Carol, Halford, Stephanie, Kruyer, Helena, Lench, Nicholas J., Scambler, Peter J., Hansen, Connie, Braman, Jeffrey C., Williamson, Robert

Journal:

Year:

1991

Language:

english

File:

PDF, 883 KB

english, 1991

89

Microdeletions within 22q11 associated with sporadic and familial DiGeorge syndrome

Scambler, Peter J., Carey, Alisoun H., Wyse, Richard K.H., Roach, Sherry, Dumanski, Jan P., Nordenskjold, Magnus, Williamson, Robert

Journal:

Year:

1991

Language:

english

File:

PDF, 949 KB

english, 1991

90

Possible role for COMT in psychosis associated with velo-cardio-facial syndrome

Dunham, Ian, Collins, John, Wadey, Roy, Scambler, Peter

Journal:

Year:

1992

Language:

english

File:

PDF, 360 KB

english, 1992

91

CHD7 Maintains Neural Stem Cell Quiescence and Prevents Premature Stem Cell Depletion in the Adult Hippocampus

Jones, Kieran M., Sarić, Nemanja, Russell, John P., Andoniadou, Cynthia L., Scambler, Peter J., Basson, M. Albert

Journal:

Year:

2015

Language:

english

File:

PDF, 1.87 MB

english, 2015

92

Isolation of a gene encoding an integral membrane protein from the vicinity of a balanced translocation breakpoint associated with DiGeorge syndrome

Wadey, Roy, Daw, Sara, Taylor, Catherine, Atif, Uzma, Kamath, Shalan, Halford, Stephanie, O‘Donnell, Hilary, Wilson, David, Goodship, Judith, Burn, John, Scambler, Peter

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 4.51 MB

english, 1995

93

Diffusion microscopic MRI of the mouse embryo: Protocol and practical implementation in the splotch mouse model

Norris, Francesca C., Siow, Bernard M., Cleary, Jon O., Wells, Jack A., De Castro, Sandra C.P., Ordidge, Roger J., Greene, Nicholas D.E., Copp, Andrew J., Scambler, Peter J., Alexander, Daniel. C., Ly

Journal:

Magnetic Resonance in Medicine

Year:

2015

Language:

english

File:

PDF, 632 KB

english, 2015

94

In vivo photoacoustic imaging of mouse embryos

Laufer, Jan, Norris, Francesca, Cleary, Jon, Zhang, Edward, Treeby, Bradley, Cox, Ben, Johnson, Peter, Scambler, Pete, Lythgoe, Mark, Beard, Paul

Journal:

Journal of Biomedical Optics

Year:

2012

Language:

english

File:

PDF, 13.44 MB

english, 2012

95

Genetic homogeneity of cystic fibrosis

Klinger, Katherine, Stanislovitis, Patricia, Hoffiman, Nancy, Watkins, Paul C., Schwartz, Robert, Doherty, Richard, Scambler, Peter, Farrall, Martin, Williamson, Robert, Wainwright, Brandon

Journal:

Nucleic Acids Research

Year:

1986

Language:

english

File:

PDF, 240 KB

english, 1986

96

Histone Chaperone HIRA in Regulation of Transcription Factor RUNX1

Majumder, Aditi, Syed, Khaja Mohieddin, Joseph, Sunu, Scambler, Peter J., Dutta, Debasree

Journal:

Journal of Biological Chemistry

Year:

2015

Language:

english

File:

PDF, 2.14 MB

english, 2015

97

Low-copy-number repeat sequences flank the DiGeorge/velo-cardio-facial syndrome loci at 22q11

Halford, Stephanie, Lindsay, Elizabeth, Nayudu, Manimekalai, Carey, Alisoun H., Baldini, Antonio, Scambler, Peter J.

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 3.17 MB

english, 1993

98

Probe pJ1 [D7S402] detects a MspI RFLP on chromosome 7q31-32

Ramsay, Michèle, Sutherland, Helen, Williamson, Robert, Scambler, Peter

Journal:

Nucleic Acids Research

Year:

1989

Language:

english

File:

PDF, 29 KB

english, 1989

99

Toward an Animal Model of Cystic Fibrosis: Targeted Interruption of Exon 10 of the Cystic Fibrosis Transmembrane Regulator Gene in Embryonic Stem Cells

Beverly H. Koller, Hyung-Suk Kim, Anne M. Latour, Kristen Brigman, Richard C. Boucher, Jr., Peter Scambler, Brandon Wainwright and Oliver Smithies

Journal:

Proceedings of the National Academy of Sciences

Year:

1991

Language:

english

File:

PDF, 1018 KB

english, 1991

100

The CXCL12/CXCR4 Axis Plays a Critical Role in Coronary Artery Development

Ivins, Sarah, Chappell, Joel, Vernay, Bertrand, Suntharalingham, Jenifer, Martineau, Alexandrine, Mohun, Timothy J., Scambler, Peter J.

Journal:

Developmental Cell

Year:

2015

Language:

english

File:

PDF, 6.81 MB

english, 2015