期刊名称：CLINICAL DYSMORPHOLOGY
 期刊简介(About the journal)
投稿须知(Instructions to Authors)
编辑部信息(Editorial Board)
About the journal
Clinical Dysmorphology publishes reports of multiple congenital anomaly syndromes--original studies and review articles on the etiology, clinical delineation, genetic mapping, and molecular embryology of birth defects. This respected international journal is essential reading for clinical geneticists, pediatricians, pathologists, obstetricians, radiologists, and all those interested in normal and abnormal human development.
Instructions to Authors
Guidance for authors on the preparation and submission of manuscripts to Clinical Dysmorphology
Note: These instructions comply with those formulated by the International Committee of Medical Journal Editors. For further details, authors should consult the following article: International Committee of Medical Journal Editors. 慤niform Requirements for Manuscripts Submitted to Biomedical Journals?N Engl J Med 1997;336:309?15. The complete document appears at www.icmje.org.
Scope
The Journal will publish well illustrated papers and letters to the editors on dysmorphic and multiple congenital anomaly syndromes, and review articles on the aetiology, clinical delineation, genetic mapping and molecular embryology of birth defects. For example:
1. Case reports: in succinct format where possible and including measurements to substantiate abnormalities of continuous traits. Discussion should not normally be longer than one typed A4 sheet. Priority will be given to distinct, previously undescribed conditions and cases confirming these entities and to rare findings and ethnic differences in existing syndromes.
2. Fetal case reports: including detailed pathology.
3. Cytogenetic aberrations which may give clues to localization of developmental genes.
4. Reviews discussing syndrome classification, heterogeneity, natural history and adult phenotypes.
5. Articles discussing molecular pathology and the interface between molecular biology and experimental embryology, including animal models for human disorders.
6. Letters including single case reports.
7. Correspondence relating to previous papers and other relevant subjects.
8. Conference reports,abstracts and summaries from the UK Dysmorphology Club, and book and software reviews. Potential contributors for these categories should have prior discussion with one of the editors.
POINTS TO CONSIDER BEFORE SUBMISSION
Redundant or duplicate publication
Submissions are accepted on the understanding that they have not been published in their current form or a substantially similar form (in print or electronically, including on a web site), that they have not been accepted for publication elsewhere, and they are not under consideration by another publication.
Conflicts of interest
Authors must state all possible conflicts of interest, including financial, consultant, institutional and other relationships that might lead to bias or a conflict of interest. If there is no conflict of interest, this should be explicitly stated. All sources of funding should be acknowledged in the paper.
Permissions to reproduce previously published material
Authors should include with their submission copies of written permission to reproduce material published elsewhere (such as illustrations) from the copyright holder. Authors are responsible for paying any fees to reproduce material.
Patient consent forms
Patients have a right to privacy that should not be infringed without informed consent. Identifying details (written or photographic) should be omitted if they are not essential, but patient data should never be altered or falsified in an attempt to attain anonymity. Complete anonymity is difficult to achieve. For example, masking the eye region in photographs of patients is inadequate protection of anonymity. A consent form should be obtained that includes permission to publish material on restricted-access sites on the Internet.
Ethics committee approval
All authors must sign a declaration that the research was conducted within the guidelines below and under the terms of all relevant local legislation. The Editors reserve the right to judge the appropriateness of the use and treatment of humans or animals in experiments for publication in the journal.
Human experiments: All work must be conducted in accordance with the Declaration of Helsinki. Papers describing experimental work on human participants which carries a risk of harm must include (1) a statement that the experiments were conducted with the understanding and the consent of each participant, and (2) a statement that the responsible ethical committee has approved the experiments.
Animal experiments: In papers describing experiments on living animals, include (1) a full description of any anaesthetic and surgical procedure used, and (2) evidence that all possible steps were taken to avoid animals?suffering at each stage of the experiment.
Authorship
All authors must sign the letter accompanying their submission to confirm that they have read and approved the paper, that they have met the criteria for authorship as established by the International Committee of Medical Journal Editors, that they believe that the paper represents honest work, and that they are able to verify the validity of the results reported.
Copyright assignment
Papers are accepted for publication on the understanding that exclusive copyright in the paper is assigned to the Publisher. Authors are asked to sign a copyright assignment form after acceptance of their papers. They may use material from their paper in other works published by them.
Submissions
Submissions, which should include both a printed manuscript with all illustrations and a disk or CD-ROM, should be sent to one of the editors:
Robin Winter, Clinical and Molecular Genetics Unit, Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK.
Dian Donnai, Dept. of Clinical Genetics, St Mary抯 Hospital, Hathersage Road, Manchester M13 0JH, UK. Include the following where appropriate: patient consent forms; ethics declaration, transfer of copyright form; permission to reproduce previously published material; checklist. Submit the required number of paper copies and keep copies of everything submitted.
Please submit three hard copies including all illustrations. Manuscripts should be printed on white bond paper. Margins should be not less than 3 cm. Double spacing should be used throughout the manuscript, which should include the following sections, each starting on a separate sheet: title page, abstract and keywords, text, acknowledgements, references, individual tables and captions. Pages should be numbered consecutively, beginning with the title page, and the page number should be placed in the top right-hand corner of each page. Abbreviations should be defined on their first appearance in the text; those not accepted by international bodies should be avoided.
Disks and CD-ROMS
All submissions should include electronic files using either floppy disks or CD ROMs. Put only the latest version of the manuscript on the disk; name the file clearly; label the disk with the format of the file and the file name; provide information on the hardware and software used. Most word-processing packages are accepted, but Microsoft Word is preferred.
PRESENTATION OF PAPERS
Title Page
The title page should carry the full title of the paper and a short title to be used as a 憆unning head?(and which should be so identified). The first name, middle initial and last name of each author should appear. If the work is to be attributed to a department or institution, its full name should be included. Any disclaimers should appear on the title page, as should the name and address of the author responsible for correspondence concerning the manuscript and the name and address of the author to whom requests for reprints should be made. Finally, the title page should include the sources of any support for the work in the form of grants, equipment, drugs, or any combination of these.
Abstracts
The second page should carry an abstract of no more than 150?00 words. The abstract should state the reason for the case report or objective(s) of the study or investigation, basic methods (selection of study subjects; observational and analytical methods), main results (giving specific data and their statistical significance, if possible), and the principal conclusions. It should emphasize new and important aspects of the study or observations.
Key words
The abstract should be followed by a list of 3?0 keywords or short phrases which will assist the cross-indexing of the article and which may be published. When possible, the terms used should be from the Medical Subject Headings list of the Index Medicus.
Text
Full papers of an observational nature may be divided into sections headed Introduction, Case Report or Clinical Report (including ethical and statistical information) and Discussion (including a conclusion), although reviews may require a different format.
Acknowledgements
Acknowledgements should be made only to those who have made a substantial contribution to the report or study. Authors are responsible for obtaining written permission from people acknowledged by name in case readers infer their endorsement of data and conclusions.
References
References follow the Harvard system. In the text give the author抯 name and, in parentheses, the date of the paper/book being cited. Where there are three or more authors, use the first author抯 name plus et al. All works cited must be listed at the end of the paper, ordered alphabetically by first author抯 name. References should include the names of all authors when six or fewer; when seven or more, list only the first six names and add et al. References should also include full title and source information. Journal names should be abbreviated as in the Index Medicus (http://www.medscape.com/Home/Search/IndexMedicus/ IndexMedicus.html).
Articles in journals
Standard journal article: Muranjan MN, Nirmala S, Bharucha (2001). Carpal-tarsal osteolysis in monozygotic twins with a new finding. Clin Dysmorphol 10:281?83.
Books
Book:
Jones KL (1988). Smith抯 recognizable patterns of human malformation, 4th edn. Philadelphia: WB Saunders.
Chapter in a book:
Brusilow SW, Horwich AL (1989). Urea cycle enzymes. In: The metabolic basis of inherited disease. 6th edn. Scriver CR, Beaudet AL, Sly WS, Valle D (editors). New York: McGraw Hill; pp. 629?63.
Personal communications and unpublished work should not feature in the reference list but should appear in parentheses in the text. Unpublished work accepted for publication but not yet released should be included in the reference list with the words 慽n press?in parentheses beside the name of the journal concerned. References must be verified by the author(s) against the original documents.
Tables
Each table should be typed on a separate sheet in double spacing. Tables should not be submitted as photographs. Each table should be assigned an Arabic numeral, e.g. (Table 3) and a brief title. Vertical rules should not be used. Place explanatory matter in footnotes, not in the heading. Explain in footnotes all non-standard abbreviations that are used in each table. Identify statistical measures of variations, such as standard deviation and standard error of the mean.
Be sure that each table is cited in the text. If you use data from another published or unpublished source, obtain permission and acknowledge the source fully.
Illustrations
References to figures and tables should be made in order of appearance in the text and should be in Arabic numerals in parentheses, e.g. (Figure 2). Where possible, figures should be supplied in TIFF or EPS format. If hard copies are submitted they should have a label pasted to the back bearing the figure number, the title of the paper, the author抯 name and a mark indicating the top of the figure. Illustrations should not be mounted. Half-tone illustrations should be presented as glossy prints to a width of 80 mm; line illustrations should be presented as original artwork or prints to a width of 80 mm or, when the illustration demands it, to a width of 166 mm. Photomicrographs must have internal scale markers. If photographs of people are used, their identities must be obscured or the picture must be accompanied by written consent to use the photograph. If a figure has been published before, the original source must be acknowledged and written permission from the copyright holder for both print and electronic formats should be submitted with the material. Permission is required regardless of authorship or publisher, except for documents in the public domain. Figures may be reduced, cropped or deleted at the discretion of the editor. Colour illustrations are acceptable but authors will be expected to cover the extra reproduction costs (for current charges, contact the publisher).
Karyotypes and pedigrees
Chromosomes should be illustrated with high quality prints. Pedigrees should use circles and squares to denote females and males.
Legends for illustrations
Captions should be typed in double spacing, beginning on a separate sheet of paper. Each one should have an Arabic numeral corresponding to the illustration to which it refers. Internal scales should be explained and staining methods for photomicrographs should be identified.
Units of measurement
Measurements of length, height, weight, and volume should be reported in metric units (metre, kilogram, or litre) or their decimal multiples. Temperatures should be given in degrees Celsius. Blood pressures should be given in millimetres of mercury.
All haematologic and clinical chemistry measurements should be reported in the metric system in terms of the International System of Units (SI). Editors may request that alternative or non-SI units be added by the authors before publication.
Abbreviations and symbols
Use only standard abbreviations. Avoid abbreviations in the title and abstract. The full term for which an abbreviation stands should precede its first use in the text unless it is a standard unit of measurement.
Letters to the Editor
The format should be:
a) A title page plus key words as for full papers.
b) No more than two pages of double-spaced text with no sub-headings.
c) No more than two illustrations with legends.
d) No more than six references.
Offprints
Offprints may be purchased using the appropriate form that will be made available with proofs. Orders should be sent when the proofs are returned; orders received after this time cannot be fulfilled.
Editorial Board
|
EDITORS |
Robin Winter
Mothercare Unit of Clinical
Genetics
Institute of Child Health
30 Guilford Street
London WC1N 1EH, UK
Tel: +44 (0)20 7242-9789
Fax: +44 (0)20 7813-8141
E-mail: Rwinter@ich.ucl.ac.uk |
|
Michael Baraitser
Mothercare Unit of Clinical Genetics
Institute of Child Health
30 Guilford Street
London WC1N 1EH, UK
Tel: +44 (0)161 7242-9789
Fax: +44 (0)161 7813-8141
E-mail: all@lokibooks.u-net.com
|
Dian Donnai
Department of Clinical Genetics
St Mary's Hospital
Hathersage Road
Manchester M13 0JH, UK
Tel: +44 (0)161 276-6264
Fax: +44 (0)161 276-6145
E-mail: ddonnai@central.cmht.nwest.nhs.uk |
| EDITORIAL BOARD |
Li Al-Gazali
UAE University
United Arab Emirates
Frits Beemer
Clinical Genetics Center
Utrecht, The Netherlands
Leslie G. Biesecker
National Human Genome Institute
Bethesda, USA
Han Brunner
University Hospital
Nijmegen, The Netherlands
David Chitayat
The Hospital for Sick Children
Toronto, Canada
Allison Colley
Liverpool Health Service
NSW, Australia
William Dobyns
University of Minnesota, USA
Andres Giedion
Kinderspital
Z黵ich, Switzerland
Gabriele Gillessen-Kaesbach
Universit鋞sklinikum Essen, Germany
Ben CJ Hamel
University Hospital Nijmegan
The Netherlands
|
Didier Lacombe
Hospitalier Universitaire de Bordeaux, France
Martine Le Merrer
H魀ital Necker-Enfants Malades
Paris, France
Maximilian Muenke
The Children抯 Hospital of Philadelphia, USA
Antonio Richieri-Costa
Universidade de Sao Paulo, Brazil
Mary Seller
Guy抯 and St Thomas抯 Medical and Dental School
London, UK
Virginia Sybert
University of Washington School of Medicine
Seattle, USA
Masato Tsukahara
Yamaguchi University, Japan
Alain Verloes
Universit?de Li鑗e, Belgium
Mat Warman
Case Western Reserve University School of Medicine
Cleveland, USA |
|
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