Search Results - "Harper PS"

Developing a quality scoring system for epidemiological surveys of genetic disorders.

Authors: Al-Jader, LN Newcombe, RG Hayes, S et al.

Source: Clinical Genetics. Sep2002, Vol. 62 Issue 3, p230-234. 5p.

Conversations with French medical geneticists. A personal perspective on the origins and early years of medical genetics in France.

Authors: Harper PS; Institute of Medical Genetics, School of Medicine, Cardiff University, Cardiff, UK.

Source: Clinical genetics [Clin Genet] 2018 Jul; Vol. 94 (1), pp. 115-124. Date of Electronic Publication: 2018 Mar 11.

Publication Type: Historical Article; Journal Article; Review

Journal Info: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

Human genetics in troubled times and places.

Authors: Harper PS; University Research Professor (Emeritus) in Human Genetics, Institute of Medical Genetics, School of Medicine, Cardiff University, Heath Park, Cardiff, CF14 4XN UK.

Source: Hereditas [Hereditas] 2017 Aug 03; Vol. 155, pp. 7. Date of Electronic Publication: 2017 Aug 03 (Print Publication: 2018).

Publication Type: Historical Article; Journal Article; Review

Journal Info: Publisher: BioMed Central Ltd Country of Publication: England NLM ID: 0374654 Publication Model: eCollection Cited Medium: Internet ISSN: 1601-5223 (Electronic) Linking ISSN: 00180661 NLM ISO Abbreviation: Hereditas Subsets: MEDLINE

Recorded interviews with human and medical geneticists.

Authors: Harper PS; Cardiff University, Cardiff, UK. HarperPS@cardiff.ac.uk.

Source: Human genetics [Hum Genet] 2017 Feb; Vol. 136 (2), pp. 149-164. Date of Electronic Publication: 2016 Nov 15.

Publication Type: Historical Article; Journal Article

Journal Info: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE

Mary Lyon and the hypothesis of random X chromosome inactivation.

Authors: Harper PS; Institute of Medical Genetics, School of Medicine, Cardiff University, Cardiff, UK. HarperPS@cardiff.ac.uk

Source: Human genetics [Hum Genet] 2011 Aug; Vol. 130 (2), pp. 169-74.

Publication Type: Historical Article; Journal Article

Journal Info: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE

The Human Genetics Historical Library: an international resource for geneticists and historians.

Authors: Harper PS Pierce K

Source: Clinical genetics [Clin Genet] 2010 Mar; Vol. 77 (3), pp. 214-20.

Publication Type: Historical Article; Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

Paul Polani and the development of medical genetics.

Authors: Harper PS; Institute of Medical Genetics, Cardiff University, Heath Park, Cardiff, UK. HarperPS@cardiff.ac.uk

Source: Human genetics [Hum Genet] 2007 Jan; Vol. 120 (5), pp. 723-31.

Publication Type: Biography; Historical Article; Journal Article; Portrait; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print Cited Medium: Print ISSN: 0340-6717 (Print) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE

The discovery of the human chromosome number in Lund, 1955-1956.

Authors: Harper PS; Institute of Medical Genetics, Cardiff University, Heath Park, CF14 4XN Cardiff, UK. HarperPS@cardiff.ac.uk

Source: Human genetics [Hum Genet] 2006 Mar; Vol. 119 (1-2), pp. 226-32.

Publication Type: Biography; Historical Article; Journal Article; Portrait

Journal Info: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print Cited Medium: Print ISSN: 0340-6717 (Print) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE

William Bateson, human genetics and medicine.

Authors: Harper PS; Institute of Medical Genetics, Cardiff University, Heath Park, Cardiff, CF14 4XN, UK. harperps@cardiff.ac.uk

Source: Human genetics [Hum Genet] 2005 Oct; Vol. 118 (1), pp. 141-51.

Publication Type: Biography; Historical Article; Journal Article

Journal Info: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print Cited Medium: Print ISSN: 0340-6717 (Print) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE

Julia Bell and the Treasury of Human Inheritance.

Authors: Harper PS; Institute of Medical Genetics, Cardiff University, Cardiff, UK. HarperPS@cardiff.ac.uk

Source: Human genetics [Hum Genet] 2005 Apr; Vol. 116 (5), pp. 422-32.

Publication Type: Biography; Historical Article; Journal Article; Portrait

Journal Info: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print Cited Medium: Print ISSN: 0340-6717 (Print) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE

Three proteins, MBNL, MBLL and MBXL, co-localize in vivo with nuclear foci of expanded-repeat transcripts in DM1 and DM2 cells.

Authors: Fardaei M Rogers MT Thorpe HM et al.

Source: Human molecular genetics [Hum Mol Genet] 2002 Apr 01; Vol. 11 (7), pp. 805-14.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Print ISSN: 0964-6906 (Print) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE

The Frequency of Inherited Disorders Database.

Authors: Al-Jader LN Harper PS Krawczak M et al.

Source: Human genetics [Hum Genet] 2001 Jan; Vol. 108 (1), pp. 72-4.

Publication Type: Journal Article

Journal Info: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print Cited Medium: Print ISSN: 0340-6717 (Print) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE

Aberrant interactions of transcriptional repressor proteins with the Huntington's disease gene product, huntingtin.

Authors: Boutell JM Thomas P Neal JW et al.

Source: Human molecular genetics [Hum Mol Genet] 1999 Sep; Vol. 8 (9), pp. 1647-55.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Print ISSN: 0964-6906 (Print) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE

Huntingtin interacts with cystathionine beta-synthase.

Authors: Boutell JM Wood JD Harper PS et al.

Source: Human molecular genetics [Hum Mol Genet] 1998 Mar; Vol. 7 (3), pp. 371-8.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Print ISSN: 0964-6906 (Print) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE

Cardiac disease in myotonic dystrophy.

Authors: Phillips MF Harper PS

Source: Cardiovascular research [Cardiovasc Res] 1997 Jan; Vol. 33 (1), pp. 13-22.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Review

Journal Info: Publisher: Oxford Journals Country of Publication: England NLM ID: 0077427 Publication Model: Print Cited Medium: Print ISSN: 0008-6363 (Print) Linking ISSN: 00086363 NLM ISO Abbreviation: Cardiovasc Res Subsets: MEDLINE

Naming of syndromes and unethical activities: the case of Hallervorden and Spatz.

Authors: Harper PS; Institute of Medical Genetics, University of Wales College of Medicine, Cardift, UK.

Source: Lancet (London, England) [Lancet] 1996 Nov 02; Vol. 348 (9036), pp. 1224-5.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Country of Publication: England NLM ID: 2985213R Publication Model: Print Cited Medium: Print ISSN: 0140-6736 (Print) Linking ISSN: 01406736 NLM ISO Abbreviation: Lancet Subsets: MEDLINE

Partial characterisation of murine huntingtin and apparent variations in the subcellular localisation of huntingtin in human, mouse and rat brain.

Authors: Wood JD MacMillan JC Harper PS et al.

Source: Human molecular genetics [Hum Mol Genet] 1996 Apr; Vol. 5 (4), pp. 481-7.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Print ISSN: 0964-6906 (Print) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE

Genetic testing, common diseases, and health service provision.

Authors: Harper PS; Institute of Medical Genetics, University of Wales College of Medicine, Cardiff, UK.

Source: Lancet (London, England) [Lancet] 1995 Dec 23-30; Vol. 346 (8991-8992), pp. 1645-6.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Country of Publication: England NLM ID: 2985213R Publication Model: Print Cited Medium: Print ISSN: 0140-6736 (Print) Linking ISSN: 01406736 NLM ISO Abbreviation: Lancet Subsets: MEDLINE

Molecular analysis and clinical correlations of the Huntington's disease mutation.

Authors: MacMillan JC Snell RG Tyler A et al.

Source: Lancet (London, England) [Lancet] 1993 Oct 16; Vol. 342 (8877), pp. 954-8.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Elsevier Country of Publication: England NLM ID: 2985213R Publication Model: Print Cited Medium: Print ISSN: 0140-6736 (Print) Linking ISSN: 01406736 NLM ISO Abbreviation: Lancet Subsets: MEDLINE

Insurance and genetic testing.

Authors: Harper PS; Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff, UK.

Source: Lancet (London, England) [Lancet] 1993 Jan 23; Vol. 341 (8839), pp. 224-7.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Country of Publication: England NLM ID: 2985213R Publication Model: Print Cited Medium: Print ISSN: 0140-6736 (Print) Linking ISSN: 01406736 NLM ISO Abbreviation: Lancet Subsets: MEDLINE