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1

Osteogenesis Imperfecta || Osteogenesis Imperfecta Genotypes and Genotype–Phenotype Relationships

Dalgleish, Raymond

Year:

2014

Language:

english

File:

PDF, 592 KB

english, 2014

2

Encyclopedia of Immunology || Southern Blotting

Dalgleish, Raymond

Year:

1998

File:

PDF, 449 KB

1998

3

Clarity and claims in variation/mutation databasing

Dalgleish, Raymond, Oetting, William S, Auerbach, Arleen D, Beckmann, Jacques S, Cambon-Thomsen, Anne, Devereau, Andrew, Greenblatt, Marc S, Patrinos, George P, Taylor, Graham R, Vihinen, Mauno, Brook

Journal:

Nature Biotechnology

Year:

2011

Language:

english

File:

PDF, 155 KB

english, 2011

4

A mini-library of sequenced human DNA fragments: linking bench experiments with informatics

Dalgleish, Raymond, Shanks, Morag E., Monger, Karen, Butler, Nicola J.

Journal:

Journal of Biological Education

Year:

2012

Language:

english

File:

PDF, 269 KB

english, 2012

5

hgvs: A Python package for manipulating sequence variants using HGVS nomenclature: 2018 Update

Wang, Meng, Callenberg, Keith M., Dalgleish, Raymond, Fedtsov, Alexandre, Fox, Naomi, Freeman, Peter J., Jacobs, Kevin B., Kaleta, Piotr, McMurry, Andrew J., Prlić, Andreas, Rajaraman, Veena, Hart, Re

Journal:

Year:

2018

File:

PDF, 1.08 MB

2018

6

Substitution of glycine-172 by arginine in the α1 chain of type I collagen in a patient with osteogenesis imperfecta, type III

Katrina Mackay, Anne De Paepe, Lieve Nuytinck, Raymond Dalgleish

Journal:

Year:

1994

Language:

english

File:

PDF, 194 KB

english, 1994

7

A Gly859Ser substitution in the triple helical domain of the α2 chain of type I collagen resulting in osteogenesis imperfecta type III in two unrelated individuals

Nicola J. Rose, Katrina Mackay, Peter H. Byers, Raymond Dalgleish

Journal:

Year:

1994

Language:

english

File:

PDF, 624 KB

english, 1994

8

The Human Variome Project (HVP) 2009 Forum “Towards Establishing Standards”

Heather J. Howard, Ourania Horaitis, Richard G.H. Cotton, Mauno Vihinen, Raymond Dalgleish, Peter Robinson, Anthony J. Brookes, Myles Axton, Robert Hoffmann, Sylvie Tuffery-Giraud

Journal:

Year:

2010

Language:

english

File:

PDF, 91 KB

english, 2010

9

Practical guidelines addressing ethical issues pertaining to the curation of human locus-specific variation databases (LSDBs)

Sue Povey, Aida I. Al Aqeel, Anne Cambon-Thomsen, Raymond Dalgleish, Johan T. den Dunnen, Helen V. Firth, Marc S. Greenblatt, Carol Isaacson Barash, Michael Parker, George P. Patrinos, Judith Savige,

Journal:

Year:

2010

Language:

english

File:

PDF, 145 KB

english, 2010

10

WAVe: web analysis of the variome

Pedro Lopes, Raymond Dalgleish, José Luís Oliveira

Journal:

Year:

2011

Language:

english

File:

PDF, 302 KB

english, 2011

11

Curating gene variant databases (LSDBs): Toward a universal standard

Jacopo Celli, Raymond Dalgleish, Mauno Vihinen, Peter E.M. Taschner, Johan T. den Dunnen

Journal:

Year:

2012

Language:

english

File:

PDF, 343 KB

english, 2012

12

Guidelines for establishing locus specific databases

Mauno Vihinen, Johan T. den Dunnen, Raymond Dalgleish, Richard G. H. Cotton

Journal:

Year:

2012

Language:

english

File:

PDF, 404 KB

english, 2012

13

Letters to the editors

Raymond Dalgleish, Timothy Francis, Matthew J. Beckman, Samuel S. Murray, Elsa J. Brochmann, Keyvan Behnam

Journal:

Journal of Orthopaedic Research

Year:

2006

Language:

english

File:

PDF, 91 KB

english, 2006

14

A single amino acid deletion in the α2(I) chain of type I collagen produces osteogenesis imperfecta type III

Karen Molyneux, Barbra J. Starman, Peter H. Byers, Raymond Dalgleish

Journal:

Year:

1993

Language:

english

File:

PDF, 1.01 MB

english, 1993

15

A Gly238Ser substitution in the α2 chain of type I collagen results in osteogenesis imperfecta type III

Nicola J. Rose, Katrina Mackay, Peter H. Byers, Raymond Dalgleish

Journal:

Year:

1995

Language:

english

File:

PDF, 835 KB

english, 1995

16

Three unrelated individuals with perinatally lethal osteogenesis imperfecta resulting from identical Gly502Ser substitutions in the α2-chain of type I collagen

Nicola J. Rose, Katrina Mackay, Anne Paepe, Beat Steinmann, Hope H. Punnett, Raymond Dalgleish

Journal:

Year:

1994

Language:

english

File:

PDF, 726 KB

english, 1994

17

SSCP detection of a Gly565Val substitution in the proα(I) collagen chain resulting in osteogenesis imperfecta type II

Katrina Mackay, Allan M. Lund, Michael Raghunath, Beat Steinmann, Raymond Dalgleish

Journal:

Year:

1993

Language:

english

File:

PDF, 934 KB

english, 1993

18

BglII RFLPs in the COL1A2 gene in the Finnish population

Raymond Dalgleish

Journal:

Year:

1988

Language:

english

File:

PDF, 66 KB

english, 1988

19

Genetic counselling on brittle grounds: Recurring osteogenesis imperfecta due to parental mosaicism for a dominant mutation

Michael Raghunath, Katrina Mackay, Raymond Dalgleish, Beat Steinmann

Journal:

European Journal of Pediatrics

Year:

1995

Language:

english

File:

PDF, 1.17 MB

english, 1995

20

Length polymorphism in the threonine-glycine-encoding repeat region of theperiodgene inDrosophila

Rodolfo Costa, Alexandre A. Peixoto, Justin R. Thackeray, Raymond Dalgleish, Charalambos P. Kyriacou

Journal:

Journal of Molecular Evolution

Year:

1991

Language:

english

File:

PDF, 970 KB

english, 1991

21

Bilateral consecutive rupture of the quadriceps tendon in a man with BstUI polymorphism of the COL5A1 gene

Raymond Dalgleish

Journal:

Knee Surgery, Sports Traumatology, Arthroscopy

Year:

2011

Language:

english

File:

PDF, 98 KB

english, 2011

22

Soluble CD4 blocks the infectivity of diverse strains of HIV and SIV for T cells and monocytes but not for brain and muscle cells

Clapham, Paul R., Weber, Jonathan N., Whitby, Denise, McIntosh, Kenneth, Dalgleish, Angus G., Maddon, Paul J., Deen, Keith C., Sweet, Raymond W., Weiss, Robin A.

Journal:

Year:

1989

File:

PDF, 314 KB

1989

23

The role of a bioresource research impact factor as an incentive to share human bioresources

Cambon-Thomsen, Anne, Thorisson, Gudmundur A, Andrieu, Sandrine, Bertier, Gabrielle, Boeckhout, Martin, Cambon-Thomsen, Anne, Carpenter, Jane, Dagher, Georges, Dalgleish, Raymond, Deschênes, Mylène

Journal:

Nature Genetics

Year:

2011

Language:

english

File:

PDF, 101 KB

english, 2011

24

Solving bottlenecks in data sharing in the life sciences

Raymond Dalgleish, Eva Molero, Richard Kidd, Mascha Jansen, Daniela Past, Anika Robl, Barend Mons, Carlos Diaz, Albert Mons, Anthony J. Brookes

Journal:

Year:

2012

Language:

english

File:

PDF, 112 KB

english, 2012

25

Matthew R. Walker,Editors, ,Route Maps in Gene Technology I wouldn't start from here (1997) Blackwell Science 0 632 03792 X 334.

Raymond Dalgleish

Journal:

Trends in Biotechnology

Year:

1997

Language:

english

File:

PDF, 248 KB

english, 1997

26

Ehlers-Danlos syndrome type IV caused by Gly400Glu, Gly595Cys and Glyl003Asp substitutions in collagen III: clinical features, biochemical screening, and molecular confirmation

Katrina Mackay, Michael Raghunath, Andrea Superti-Furga, Beat Steinmann, Raymond Dalgleish

Journal:

Clinical Genetics

Year:

1996

Language:

english

File:

PDF, 1.21 MB

english, 1996

27

The divergence between human and baboon globin genes

Raymond Dalgleish, Robert Williamson, Paul Tolstoshev

Journal:

Biochimica et Biophysica Acta (BBA) - Nucleic Acids and Protein Synthesis

Year:

1976

Language:

english

File:

PDF, 337 KB

english, 1976

28

Characterization of the human secreted phosphoprotein 24 gene (SPP2) and comparison of the protein sequence in nine species

Clare S. Bennett, Hamid R. Khorram Khorshid, J. Alexandra Kitchen, David Arteta, Raymond Dalgleish

Journal:

Year:

2004

Language:

english

File:

PDF, 1.32 MB

english, 2004

29

Substitution of glycine-661 by serine in the α1(I) and α2(1) chains of type I collagen results in different clinical and biochemical phenotypes

Lieve Nuytinck,Raymond Dalgleish,Loretta Spotila,Jean-Pierre Renard…

Journal:

Year:

1996

Language:

english

File:

PDF, 94 KB

english, 1996

30

VarioML framework for comprehensive variation data representation and exchange

Myles Byrne, Ivo FAC Fokkema, Owen Lancaster, Tomasz Adamusiak, Anni Ahonen-Bishopp, David Atlan, Christophe Béroud, Michael Cornell, Raymond Dalgleish, Andrew Devereau, George P Patrinos, Morris A Sw

Journal:

BMC Bioinformatics

Year:

2012

Language:

english

File:

PDF, 436 KB

english, 2012

31

Locus Reference Genomic sequences: an improved basis for describing human DNA variants

Raymond Dalgleish, Paul Flicek, Fiona Cunningham, Alex Astashyn…

Journal:

Genome Medicine

Year:

2010

Language:

english

File:

PDF, 166 KB

english, 2010

32

Quantifying the use of bioresources for promoting their sharing in scientific research

Laurence Mabile, Raymond Dalgleish, Gudmundur A Thorisson, Mylène Deschênes…

Journal:

Year:

2013

Language:

english

File:

PDF, 229 KB

english, 2013

33

Ethnic specificity of variants of the ESR1, HK3, BRSK1 genes and the 8q22.3 locus: No association with premature ovarian failure (POF) in Serbian women

Qin, Yingying, Vujovic, Svetlana, Li, Guangyu, Li, Jin, Dalgleish, Raymond, Simpson, Joe Leigh, Ivanisevic, Maja, Ivovic, Miomira, Tancic, Milina, Al-Azzawi, Farook, Chen, Zi-Jiang

Journal:

Year:

2014

Language:

english

File:

PDF, 247 KB

english, 2014

34

Mechanisms of action of tasquinimod on the tumour microenvironment

Raymond, E., Dalgleish, A., Damber, J.-E., Smith, M., Pili, R.

Journal:

Cancer Chemotherapy and Pharmacology

Year:

2014

Language:

english

File:

PDF, 324 KB

english, 2014

35

Novel variants in the SOHLH2 gene are implicated in human premature ovarian failure

Qin, Yingying, Jiao, Xue, Dalgleish, Raymond, Vujovic, Svetlana, Li, Jin, Simpson, Joe Leigh, Al-Azzawi, Farook, Chen, Zi-Jiang

Journal:

Fertility and Sterility

Year:

2014

Language:

english

File:

PDF, 763 KB

english, 2014

36

Human type III collagen gene expression is coordinately modulated with the type I collagen genes during fibroblast growth

Miskulin, Marcelle, Dalgleish, Raymond, Kluve-Beckerman, Barbara, Rennard, Stephen I., Tolstoshev, Paul, Brantly, Mark, Crystal, Ronald G.

Journal:

Year:

1986

Language:

english

File:

PDF, 1.52 MB

english, 1986

37

Variobox: Automatic Detection and Annotation of Human Genetic Variants

Gaspar, Paulo, Lopes, Pedro, Oliveira, Jorge, Santos, Rosário, Dalgleish, Raymond, Oliveira, José Luís

Journal:

Year:

2014

Language:

english

File:

PDF, 459 KB

english, 2014

38

The Human Variome Project: ensuring the quality of DNA variant databases in inherited renal disease

Savige, Judy, Dalgleish, Raymond, Cotton, Richard GH, den Dunnen, Johan T, Macrae, Finlay, Povey, Sue

Journal:

Pediatric Nephrology

Year:

2015

Language:

english

File:

PDF, 226 KB

english, 2015

39

EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta

van Dijk, Fleur S, Byers, Peter H, Dalgleish, Raymond, Malfait, Fransiska, Maugeri, Alessandra, Rohrbach, Marianne, Symoens, Sofie, Sistermans, Erik A, Pals, Gerard

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 495 KB

english, 2012

40

Transcription factor SOHLH1 potentially associated with primary ovarian insufficiency

Zhao, Shidou, Li, Guangyu, Dalgleish, Raymond, Vujovic, Svetlana, Jiao, Xue, Li, Jin, Simpson, Joe Leigh, Qin, Yingying, Ivanisevic, Maja, Ivovic, Miomira, Tancic, Milina, Al-Azzawi, Farook, Chen, Zi-

Journal:

Fertility and Sterility

Year:

2015

Language:

english

File:

PDF, 870 KB

english, 2015

41

Human type III collagen ‘variant’ is a cDNA cloning artefact

Molyneux, Karen, Dalgleish, Raymond

Journal:

Nucleic Acids Research

Year:

1988

Language:

english

File:

PDF, 904 KB

english, 1988

42

An anonymous genomic probe (pλKP20.1) detects a multi-allelic locus on chromosome 19 (DI9S25)

Mankoo, Baljinder Singh, Dalgleish, Raymond

Journal:

Nucleic Acids Research

Year:

1987

Language:

english

File:

PDF, 34 KB

english, 1987

43

Twenty four hour intragastric acidity and plasma gastrin concentration in healthy volunteers taking nizatidine 150 mg, nizatidine 300 mg, ranitidine 300 mg, or placebo at 21:00 h.

Lanzon-Miller, S, Pounder, R E, Chronos, N A, Raymond, F, Hamilton, M R, Dalgleish, D

Journal:

Year:

1988

Language:

english

File:

PDF, 877 KB

english, 1988

44

Human pro α 1(III) collagen: cDNA sequence for the 3′ end

Mankoo, Baljinder Singh, Dalgleish, Raymond

Journal:

Nucleic Acids Research

Year:

1988

Language:

english

File:

PDF, 71 KB

english, 1988

45

PCR detection of a COL1A1 Rsal RFLP

Rose, Jacqueline, Katrina, Mackay, Johnson, Rachel, Dalgleish, Raymond

Journal:

Nucleic Acids Research

Year:

1991

Language:

english

File:

PDF, 61 KB

english, 1991

46

An anonymous genomic probe (pλKP20.1) detects a multi-allelic locus on chromosome 19 (D19S25)

Mankoo, Baljinder Singh, Dalgleish, Raymond

Journal:

Nucleic Acids Research

Year:

1988

Language:

english

File:

PDF, 659 KB

english, 1988

47

Clinical utility gene card for: osteogenesis imperfecta

van Dijk, Fleur S, Dalgleish, Raymond, Malfait, Fransiska, Maugeri, Alessandra, Rusinska, Agnieszka, Semler, Oliver, Symoens, Sofie, Pals, Gerard

Journal:

European Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 195 KB

english, 2013

48

PCR detection of a 38 bp length variant in the COL1A2 gene

Watson, Carolyn J., Dalgleish, Raymond

Journal:

Nucleic Acids Research

Year:

1990

Language:

english

File:

PDF, 1.64 MB

english, 1990

49

Cafe Variome: General-Purpose Software for Making Genotype-Phenotype Data Discoverable in Restricted or Open Access Contexts

Lancaster, Owen, Beck, Tim, Atlan, David, Swertz, Morris, Thangavelu, Dhiwagaran, Veal, Colin, Dalgleish, Raymond, Brookes, Anthony J

Journal:

Year:

2015

Language:

english

File:

PDF, 559 KB

english, 2015

50

HGVS Recommendations for the Description of Sequence Variants: 2016 Update

den Dunnen, Johan T., Dalgleish, Raymond, Maglott, Donna R., Hart, Reece K., Greenblatt, Marc S., McGowan-Jordan, Jean, Roux, Anne-Francoise, Smith, Timothy, Antonarakis, Stylianos E., Taschner, Peter

Journal:

Year:

2016

Language:

english

File:

PDF, 182 KB

english, 2016