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  1. Article: Digesting GWAS.

    Turnpenny, Peter D

    Cellular and molecular gastroenterology and hepatology

    2016  Volume 2, Issue 5, Page(s) 542–543

    Language English
    Publishing date 2016-07-28
    Publishing country United States
    Document type Editorial
    ISSN 2352-345X
    ISSN 2352-345X
    DOI 10.1016/j.jcmgh.2016.07.003
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Book ; Online: The Tools of Policy Formulation: Actors, Capacities, Venues and Effects

    Jordan, Andrew J. / Turnpenny, John R.

    2015  

    Abstract: ... Indicators: Tools for Informing, Monitoring or Controlling?Markku Lehtonen5.- ... An IntroductionJohn R. Turnpenny, Andy J. Jordan, David Benson and Tim RaynerPART II TOOLS OF POLICY FORMULATION2 ...

    Abstract Policy analysts are accustomed to thinking in terms of tools and instruments. Yet an authoritative examination of the tools which have been developed to formulate new policies is missing. This book is the first of its kind to distinguish the defining characteristics of the main policy formulation tools, and offer a fresh way of understanding how, why and by whom they are selected, as well as the effects they produce in practice.CONTENTSPrefaceAcknowledgementsPART I INTRODUCTION1. The Tools of Policy Formulation: An IntroductionJohn R. Turnpenny, Andy J. Jordan, David Benson and Tim RaynerPART II TOOLS OF POLICY FORMULATION2. Participatory Assessment: Tools for Empowering, Learning and Legitimating?Matthijs Hisschemöller and Eefje Cuppen3. Scenarios: Tools for Coping with Complexity and Future UncertaintyMarta Pérez-Soba and Rob Maas4. Indicators: Tools for Informing, Monitoring or Controlling?Markku Lehtonen5.-

    Computerized Models: Tools for Assessing the Future of Complex Systems?Martin K. Van Ittersum and Barbara Sterk6. Multi-Criteria Analysis: A Tool for Going Beyond Monetization?Catherine D. Gamper and Catrinel Turcanu7. Cost-Benefit Analysis: A Tool That is Both Useful and Influential?Giles AtkinsonPART III ACTORS, CAPACITIES, VENUES AND EFFECTS8. Policy Formulation, Policy Advice and Policy Appraisal: The Distribution of Analytical ToolsMichael Howlett, Seck L. Tan, Andrea Migone, Adam Wellstead and Bryan Evans9. The Use of Policy Formulation Tools in the Venue of Policy Appraisal: Patterns and Underlying MotivationsJohn R. Turnpenny, Andrew J. Jordan, Camilla Adelle, Stephan Bartke, Thomas Bournaris, Petrus Kautto, Hanna Kuittinen, Lars Ege Larsen, Christina Moulogianni, Sanna-Riikka Saarela and Sabine Weiland10. Policy Formulation Tool Use in Emerging Policy Spheres: A Developing Country PerspectiveSachin Warghade11.-

    The Effects of Targets and Indicators on Policy Formulation: Narrowing Down, Crowding Out and Locking InChristina Boswell, Steve Yearley, Colin Fleming, Eugénia Rodrigues and Graham Spinardi12. The Use of Computerized Models in Different Policy Formulation Venues: The MARKAL Energy ModelPaul Upham, Peter Taylor, David Christopherson and Will McdowallPART IV CONCLUSIONS AND NEW DIRECTIONS13. The Tools of Policy Formulation: New Perspectives and New ChallengesAndy J. Jordan, John R. Turnpenny and Tim RaynerIndex
    Keywords Political institutions and public administration (General) ; Social sciences (General) ; Public finance
    Size 1 electronic resource (320 p.)
    Publisher Edward Elgar Publishing
    Document type Book ; Online
    Note English ; Open Access
    HBZ-ID HT020089344
    ISBN 9781783477036 ; 9781783477043 ; 1783477032 ; 1783477040
    Database ZB MED Catalogue: Medicine, Health, Nutrition, Environment, Agriculture

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  3. Article ; Online: Ectrodactyly-ectodermal dysplasia-clefting syndrome presenting with bilateral choanal atresia and rectal stenosis.

    Childs, Alexandra J / Mabin, David C / Turnpenny, Peter D

    American journal of medical genetics. Part A

    2020  Volume 182, Issue 8, Page(s) 1939–1943

    Abstract: We present the case of a male who shortly after birth developed acute respiratory distress due to bilateral choanal atresia, following which he was found to have rectal stenosis. Genetic testing for CHARGE syndrome was negative, but whole genome ... ...

    Abstract We present the case of a male who shortly after birth developed acute respiratory distress due to bilateral choanal atresia, following which he was found to have rectal stenosis. Genetic testing for CHARGE syndrome was negative, but whole genome sequencing identified heterozygosity for a pathogenic missense variant in TP63 (c.727C > T, p.(Arg243Trp). He also has partial cutaneous syndactyly of the third and fourth fingers of the right hand, and bilateral lacrimal duct stenosis/aplasia. A later maxillofacial review identified a palpable submucousal cleft and his scalp hair is blond and slightly sparse. Choanal atresia and rectal stenosis are recognized features of ectrodactyly-ectodermal dysplasia-clefting syndrome, but we believe this is the first report of a case presenting with these features in the absence of the cardinal features.
    MeSH term(s) CHARGE Syndrome/diagnosis ; CHARGE Syndrome/genetics ; CHARGE Syndrome/pathology ; Choanal Atresia/complications ; Choanal Atresia/diagnosis ; Choanal Atresia/genetics ; Choanal Atresia/pathology ; Cleft Lip/complications ; Cleft Lip/diagnosis ; Cleft Lip/genetics ; Cleft Lip/pathology ; Cleft Palate/complications ; Cleft Palate/diagnosis ; Cleft Palate/genetics ; Cleft Palate/pathology ; Constriction, Pathologic/complications ; Constriction, Pathologic/diagnosis ; Constriction, Pathologic/genetics ; Constriction, Pathologic/pathology ; Ectodermal Dysplasia/complications ; Ectodermal Dysplasia/diagnosis ; Ectodermal Dysplasia/genetics ; Ectodermal Dysplasia/pathology ; Genetic Predisposition to Disease ; Hand Deformities, Congenital/genetics ; Hand Deformities, Congenital/pathology ; Heterozygote ; Humans ; Infant ; Male ; Mutation, Missense/genetics ; Rectal Diseases/complications ; Rectal Diseases/diagnosis ; Rectal Diseases/genetics ; Rectal Diseases/pathology ; Respiratory Distress Syndrome/complications ; Respiratory Distress Syndrome/diagnosis ; Respiratory Distress Syndrome/genetics ; Respiratory Distress Syndrome/pathology ; Transcription Factors/genetics ; Tumor Suppressor Proteins/genetics ; Whole Genome Sequencing
    Chemical Substances TP63 protein, human ; Transcription Factors ; Tumor Suppressor Proteins
    Language English
    Publishing date 2020-05-31
    Publishing country United States
    Document type Case Reports
    ZDB-ID 2108614-X
    ISSN 1552-4833 ; 0148-7299 ; 1552-4825
    ISSN (online) 1552-4833
    ISSN 0148-7299 ; 1552-4825
    DOI 10.1002/ajmg.a.61628
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  4. Article ; Online: From the Ottomans to the present day: 150 years of Scottish medical charity in the Holy Land.

    Turnpenny, Peter D

    BMJ (Clinical research ed.)

    2013  Volume 347, Page(s) f6994

    MeSH term(s) History, 19th Century ; History, 20th Century ; History, 21st Century ; Hospitals/history ; Humans ; Israel ; Medical Missions, Official/history ; Middle East ; Ottoman Empire ; Scotland
    Language English
    Publishing date 2013-12-12
    Publishing country England
    Document type Biography ; Historical Article ; Journal Article ; Portraits
    ZDB-ID 1362901-3
    ISSN 1756-1833 ; 0959-8154 ; 0959-8146 ; 0959-8138 ; 0959-535X ; 1759-2151
    ISSN (online) 1756-1833
    ISSN 0959-8154 ; 0959-8146 ; 0959-8138 ; 0959-535X ; 1759-2151
    DOI 10.1136/bmj.f6994
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  5. Book: Emery's elements of medical genetics

    Turnpenny, Peter / Ellard, Sian / Emery, Alan E. H.

    2005  

    Title variant Elements of medical genetics
    Author's details Peter D. Turnpenny ; Sian Ellard
    Keywords Genetics, Medical ; Genetic Diseases, Inborn ; Humangenetik
    Subject Medizinische Genetik ; Anthropogenetik ; Mensch ; Medizin
    Language English
    Size XII, 443 S. : Ill., graph. Darst.
    Edition 12. ed.
    Publisher Elsevier
    Publishing place Edinburgh u.a.
    Publishing country Great Britain
    Document type Book
    Old title 11. Aufl. u.d.T. Mueller, Robert F.: Emery's elements of medical genetics
    HBZ-ID HT014182709
    ISBN 0-443-10045-4 ; 978-0-443-10045-1
    Database Catalogue ZB MED Medicine, Health

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    2005 A 646 order for loan Magazin
    2007 A 6061 order for loan Magazin

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  6. Article: Defective somitogenesis and abnormal vertebral segmentation in man.

    Turnpenny, Peter D

    Advances in experimental medicine and biology

    2009  Volume 638, Page(s) 164–189

    Abstract: In recent years molecular genetics has revolutionized the study of somitogenesis in developmental biology and advances that have taken place in animal models have been applied successfully to human disease. Abnormal segmentation in man is a relatively ... ...

    Abstract In recent years molecular genetics has revolutionized the study of somitogenesis in developmental biology and advances that have taken place in animal models have been applied successfully to human disease. Abnormal segmentation in man is a relatively common birth defect and advances in understanding have come through the study of cases clustered in families using DNA linkage analysis and candidate gene approaches, the latter stemming directly from knowledge gained through the study of animal models. Only a minority of abnormal segmentation phenotypes appear to follow Mendelian inheritance but three genes--DLL3, MESP2 and LNFG--have now been identified for spondylocostal dysostosis (SCD), a spinal malformation characterized by extensive hemivertebrae, trunkal shortening and abnormally aligned ribs with points of fusion. In affected families autosomal recessive inheritance is followed. These genes are all important components of the Notch signaling pathway. Other genes within the pathway cause diverse phenotypes such as Alagille syndrome (AGS) and CADASIL, conditions that may have their origin in defective vasculogenesis. This review deals mainly with SCD, with some consideration of AGS. Significant future challenges lie in identifying causes of the many abnormal segmentation phenotypes in man but it is hoped that combined approaches in collaboration with developmental biologists will reap rewards.
    MeSH term(s) Alagille Syndrome/embryology ; Alagille Syndrome/genetics ; Basic Helix-Loop-Helix Transcription Factors/genetics ; Body Patterning/genetics ; Bone Diseases, Developmental/embryology ; Bone Diseases, Developmental/genetics ; Calcium-Binding Proteins/genetics ; Dysostoses/congenital ; Dysostoses/embryology ; Dysostoses/genetics ; Glycosyltransferases/genetics ; Humans ; Intercellular Signaling Peptides and Proteins/genetics ; Intracellular Signaling Peptides and Proteins/genetics ; Membrane Proteins/genetics ; Mutation ; Phenotype ; Receptors, Notch/genetics ; Serrate-Jagged Proteins ; Signal Transduction/genetics ; Somites/abnormalities ; Somites/embryology ; Spine/abnormalities ; Spine/embryology
    Chemical Substances Basic Helix-Loop-Helix Transcription Factors ; Calcium-Binding Proteins ; DLL3 protein, human ; Intercellular Signaling Peptides and Proteins ; Intracellular Signaling Peptides and Proteins ; Membrane Proteins ; Receptors, Notch ; Serrate-Jagged Proteins ; Glycosyltransferases (EC 2.4.-) ; LFNG protein, human (EC 2.4.1.-)
    Language English
    Publishing date 2009-07-08
    Publishing country United States
    Document type Journal Article ; Review
    ISSN 2214-8019 ; 0065-2598
    ISSN (online) 2214-8019
    ISSN 0065-2598
    DOI 10.1007/978-0-387-09606-3_9
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  7. Article ; Online: De novo SETD5 nonsense mutation associated with diaphragmatic hernia and severe cerebral cortical dysplasia.

    Rawlins, Lettie E / Stals, Karen L / Eason, Julian D / Turnpenny, Peter D

    Clinical dysmorphology

    2017  Volume 26, Issue 2, Page(s) 95–97

    MeSH term(s) Alleles ; Brain/abnormalities ; Brain/diagnostic imaging ; Codon, Nonsense ; Comparative Genomic Hybridization ; Fatal Outcome ; Female ; Genetic Association Studies ; Genetic Testing ; Genotype ; Hernias, Diaphragmatic, Congenital/diagnosis ; Hernias, Diaphragmatic, Congenital/genetics ; Humans ; Infant, Newborn ; Karyotype ; Magnetic Resonance Imaging ; Malformations of Cortical Development/diagnosis ; Malformations of Cortical Development/genetics ; Methyltransferases/genetics ; Phenotype ; Whole Genome Sequencing
    Chemical Substances Codon, Nonsense ; Methyltransferases (EC 2.1.1.-) ; SETD5 protein, human (EC 2.1.1.-)
    Language English
    Publishing date 2017-03-05
    Publishing country England
    Document type Case Reports ; Journal Article
    ZDB-ID 1121482-x
    ISSN 1473-5717 ; 0962-8827
    ISSN (online) 1473-5717
    ISSN 0962-8827
    DOI 10.1097/MCD.0000000000000144
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    Zs.A 3528: Show issues Location:
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  8. Article ; Online: Alagille syndrome: pathogenesis, diagnosis and management.

    Turnpenny, Peter D / Ellard, Sian

    European journal of human genetics : EJHG

    2011  Volume 20, Issue 3, Page(s) 251–257

    Abstract: Alagille syndrome (ALGS), also known as arteriohepatic dysplasia, is a multisystem disorder due to defects in components of the Notch signalling pathway, most commonly due to mutation in JAG1 (ALGS type 1), but in a small proportion of cases mutation in ... ...

    Abstract Alagille syndrome (ALGS), also known as arteriohepatic dysplasia, is a multisystem disorder due to defects in components of the Notch signalling pathway, most commonly due to mutation in JAG1 (ALGS type 1), but in a small proportion of cases mutation in NOTCH2 (ALGS type 2). The main clinical and pathological features are chronic cholestasis due to paucity of intrahepatic bile ducts, peripheral pulmonary artery stenosis, minor vertebral segmentation anomalies, characteristic facies, posterior embryotoxon/anterior segment abnormalities, pigmentary retinopathy, and dysplastic kidneys. It follows autosomal dominant inheritance, but reduced penetrance and variable expression are common in this disorder, and somatic/germline mosaicism may also be relatively frequent. This review discusses the clinical features of ALGS, including long-term complications, the clinical and molecular diagnosis, and management.
    MeSH term(s) Alagille Syndrome/diagnosis ; Alagille Syndrome/etiology ; Calcium-Binding Proteins/genetics ; Facies ; Humans ; Intercellular Signaling Peptides and Proteins/genetics ; Jagged-1 Protein ; Membrane Proteins/genetics ; Mutation ; Receptor, Notch2/genetics ; Serrate-Jagged Proteins
    Chemical Substances Calcium-Binding Proteins ; Intercellular Signaling Peptides and Proteins ; JAG1 protein, human ; Jagged-1 Protein ; Membrane Proteins ; Receptor, Notch2 ; Serrate-Jagged Proteins
    Language English
    Publishing date 2011-09-21
    Publishing country England
    Document type Journal Article ; Review
    ZDB-ID 1141470-4
    ISSN 1476-5438 ; 1018-4813
    ISSN (online) 1476-5438
    ISSN 1018-4813
    DOI 10.1038/ejhg.2011.181
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  9. Article ; Online: Delineating the Smith-Kingsmore syndrome phenotype: Investigation of 16 patients with the MTOR c.5395G > A p.(Glu1799Lys) missense variant.

    Poole, Rebecca L / Curry, Philippa D K / Marcinkute, Ruta / Brewer, Carole / Coman, David / Hobson, Emma / Johnson, Diana / Lynch, Sally Ann / Saggar, Anand / Searle, Claire / Scurr, Ingrid / Turnpenny, Peter D / Vasudevan, Pradeep / Tatton-Brown, Katrina

    American journal of medical genetics. Part A

    2021  Volume 185, Issue 8, Page(s) 2445–2454

    Abstract: Smith-Kingsmore Syndrome (SKS) is a rare genetic syndrome associated with megalencephaly, a variable intellectual disability, autism spectrum disorder, and MTOR gain of function variants. Only 30 patients with MTOR missense variants are published, ... ...

    Abstract Smith-Kingsmore Syndrome (SKS) is a rare genetic syndrome associated with megalencephaly, a variable intellectual disability, autism spectrum disorder, and MTOR gain of function variants. Only 30 patients with MTOR missense variants are published, including 14 (47%) with the MTOR c.5395G>A p.(Glu1799Lys) variant. Limited phenotypic data impacts the quality of information delivered to families and the robustness of interpretation of novel MTOR missense variation. This study aims to improve our understanding of the SKS phenotype through the investigation of 16 further patients with the MTOR c.5395G>A p.(Glu1799Lys) variant. Through the careful phenotypic evaluation of these 16 patients and integration with data from 14 previously reported patients, we have defined major (100% patients) and frequent (>15%) SKS clinical characteristics and, using these data, proposed guidance for evidence-based management. In addition, in the absence of functional studies, we suggest that the combination of the SKS major clinical features of megalencephaly (where the head circumference is at least 3SD) and an intellectual disability with a de novo MTOR missense variant (absent from population databases) should be considered diagnostic for SKS.
    MeSH term(s) Adolescent ; Alleles ; Amino Acid Substitution ; Autism Spectrum Disorder/diagnosis ; Autism Spectrum Disorder/genetics ; Child ; Child, Preschool ; Facies ; Female ; Genetic Association Studies ; Genetic Loci ; Humans ; Intellectual Disability/diagnosis ; Intellectual Disability/genetics ; Male ; Megalencephaly/diagnosis ; Megalencephaly/genetics ; Mutation, Missense ; Phenotype ; Syndrome ; TOR Serine-Threonine Kinases/genetics
    Chemical Substances MTOR protein, human (EC 2.7.1.1) ; TOR Serine-Threonine Kinases (EC 2.7.11.1)
    Language English
    Publishing date 2021-05-25
    Publishing country United States
    Document type Case Reports ; Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 2108614-X
    ISSN 1552-4833 ; 0148-7299 ; 1552-4825
    ISSN (online) 1552-4833
    ISSN 0148-7299 ; 1552-4825
    DOI 10.1002/ajmg.a.62350
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  10. Article: Final Exon Frameshift Biallelic

    Khalaf-Nazzal, Reham / Fasham, James / Ubeyratna, Nishanka / Evans, David J / Leslie, Joseph S / Warner, Thomas T / Al-Hijawi, Fida' / Alshaer, Shurouq / Baker, Wisam / Turnpenny, Peter D / Baple, Emma L / Crosby, Andrew H

    Brain sciences

    2021  Volume 11, Issue 5

    Abstract: The hereditary spastic paraplegias (HSPs) are a large clinically heterogeneous group of genetic disorders classified as 'pure' when the cardinal feature of progressive lower limb spasticity and weakness occurs in isolation and 'complex' when associated ... ...

    Abstract The hereditary spastic paraplegias (HSPs) are a large clinically heterogeneous group of genetic disorders classified as 'pure' when the cardinal feature of progressive lower limb spasticity and weakness occurs in isolation and 'complex' when associated with other clinical signs. Here, we identify a homozygous frameshift alteration occurring in the last coding exon of the protein tyrosine phosphatase type 23 (
    Language English
    Publishing date 2021-05-11
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2651993-8
    ISSN 2076-3425
    ISSN 2076-3425
    DOI 10.3390/brainsci11050614
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