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  1. Article: Multiple congenital anomaly associated with an extra autosome.

    CRAWFURD, M D

    Lancet (London, England)

    2003  Volume 2, Issue 7192, Page(s) 22–24

    MeSH term(s) Abnormalities, Multiple ; Chromosomes ; Congenital Abnormalities/genetics
    Language English
    Publishing date 2003-03-17
    Publishing country England
    Document type Journal Article
    ZDB-ID 3306-6
    ISSN 1474-547X ; 0140-6736 ; 0023-7507
    ISSN (online) 1474-547X
    ISSN 0140-6736 ; 0023-7507
    DOI 10.1016/s0140-6736(61)92709-x
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  2. Article: Chromosomal mosaicism in a case of Klinefelter's syndrome associated with thalassaemia.

    CRAWFURD, M D

    Annals of human genetics

    2003  Volume 25, Page(s) 153–158

    MeSH term(s) Chromosome Disorders ; Chromosomes ; Humans ; Klinefelter Syndrome ; Medical Records ; Mosaicism ; Thalassemia
    Language English
    Publishing date 2003-08-14
    Publishing country England
    Document type Case Reports ; Journal Article
    ZDB-ID 333-5
    ISSN 1469-1809 ; 0003-4800
    ISSN (online) 1469-1809
    ISSN 0003-4800
    DOI 10.1111/j.1469-1809.1961.tb01513.x
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  3. Article ; Online: Elevated CO2 and phosphate limitation favor Micromonas pusilla through stimulated growth and reduced viral impact.

    Maat, Douwe S / Crawfurd, Katherine J / Timmermans, Klaas R / Brussaard, Corina P D

    Applied and environmental microbiology

    2014  Volume 80, Issue 10, Page(s) 3119–3127

    Abstract: ... simultaneous limitation of phosphorus (P). Independent of the pCO2 level, the ratios of M. pusilla cellular ... of elevated pCO2 led to an additional rise in cellular C:N and C:P ratios, as well as a 1.4-fold increase in M ...

    Abstract Growth and viral infection of the marine picoeukaryote Micromonas pusilla was studied under a future-ocean scenario of elevated partial CO2 (pCO2; 750 μatm versus the present-day 370 μatm) and simultaneous limitation of phosphorus (P). Independent of the pCO2 level, the ratios of M. pusilla cellular carbon (C) to nitrogen (N), C:P and N:P, increased with increasing P stress. Furthermore, in the P-limited chemostats at growth rates of 0.32 and 0.97 of the maximum growth rate (μmax), the supply of elevated pCO2 led to an additional rise in cellular C:N and C:P ratios, as well as a 1.4-fold increase in M. pusilla abundance. Viral lysis was not affected by pCO2, but P limitation led to a 150% prolongation of the latent period (6 to 12 h) and an 80% reduction in viral burst sizes (63 viruses per cell) compared to P-replete conditions (4 to 8 h latent period and burst size of 320). Growth at 0.32 μmax further prolonged the latent period by another 150% (12 to 18 h). Thus, enhanced P stress due to climate change-induced strengthened vertical stratification can be expected to lead to reduced and delayed virus production in picoeukaryotes. This effect is tempered, but likely not counteracted, by the increase in cell abundance under elevated pCO2. Although the influence of potential P-limitation-relieving factors, such as the uptake of organic P and P utilization during infection, is unclear, our current results suggest that when P limitation prevails in future oceans, picoeukaryotes and grazing will be favored over larger-sized phytoplankton and viral lysis, with increased matter and nutrient flow to higher trophic levels.
    MeSH term(s) Carbon Dioxide/metabolism ; Chlorophyta/chemistry ; Chlorophyta/growth & development ; Chlorophyta/metabolism ; Chlorophyta/virology ; Climate Change ; Kinetics ; Nitrogen/metabolism ; Phosphates/metabolism ; Phosphorus/metabolism ; Virus Physiological Phenomena
    Chemical Substances Phosphates ; Carbon Dioxide (142M471B3J) ; Phosphorus (27YLU75U4W) ; Nitrogen (N762921K75)
    Language English
    Publishing date 2014-03-07
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 223011-2
    ISSN 1098-5336 ; 0099-2240
    ISSN (online) 1098-5336
    ISSN 0099-2240
    DOI 10.1128/AEM.03639-13
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  4. Article: Prenatal diagnosis of common genetic disorders.

    Crawfurd, M D

    BMJ (Clinical research ed.)

    1988  Volume 297, Issue 6647, Page(s) 502–506

    MeSH term(s) Chromosome Aberrations/diagnosis ; Chromosome Disorders ; Cystic Fibrosis/diagnosis ; Cystic Fibrosis/genetics ; Female ; Fetal Diseases/genetics ; Humans ; Neural Tube Defects/diagnosis ; Pregnancy ; Prenatal Diagnosis/methods
    Language English
    Publishing date 1988-08
    Publishing country England
    Document type Journal Article ; Review
    ZDB-ID 1362901-3
    ISSN 1756-1833 ; 0959-8138 ; 0959-8154 ; 0959-8146 ; 0959-535X ; 1759-2151
    ISSN (online) 1756-1833
    ISSN 0959-8138 ; 0959-8154 ; 0959-8146 ; 0959-535X ; 1759-2151
    DOI 10.1136/bmj.297.6647.502
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  5. Article: Ethical guidelines in fetal medicine.

    Crawfurd, M D

    Fetal therapy

    1987  Volume 2, Issue 3, Page(s) 175–180

    Abstract: The ethical guidelines in the clinical practice of fetal medicine are discussed, largely from the point of view of early prenatal diagnosis. The discussion concentrates on several specific aspects including counselling, good procedure, prenatal screening, ...

    Abstract The ethical guidelines in the clinical practice of fetal medicine are discussed, largely from the point of view of early prenatal diagnosis. The discussion concentrates on several specific aspects including counselling, good procedure, prenatal screening, disclosure of results including fetal sex, experimentation and assessment of new technologies and health education. The emphasis is placed on the importance of informed consent, choice and understanding on the part of the patient, and the professional competence of the doctor and other professionals she may meet.
    MeSH term(s) Choice Behavior ; Ethics, Medical ; Female ; Genetic Counseling ; Genetic Testing ; Humans ; Informed Consent ; Pregnancy ; Prenatal Diagnosis ; Sex Determination Analysis
    Language English
    Publishing date 1987
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 632806-4
    ISSN 0257-2788
    ISSN 0257-2788
    DOI 10.1159/000263313
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  6. Article: Mutant genes in Wilms' tumour.

    Crawfurd, M D

    Lancet (London, England)

    1984  Volume 2, Issue 8394, Page(s) 97

    MeSH term(s) Chromosome Aberrations ; Chromosomes, Human, 6-12 and X ; Female ; Humans ; Kidney Neoplasms/drug therapy ; Kidney Neoplasms/genetics ; Male ; Mitomycin ; Mitomycins/therapeutic use ; Wilms Tumor/drug therapy ; Wilms Tumor/genetics
    Chemical Substances Mitomycins ; Mitomycin (50SG953SK6)
    Language English
    Publishing date 1984-07-14
    Publishing country England
    Document type Letter
    ZDB-ID 3306-6
    ISSN 1474-547X ; 0140-6736 ; 0023-7507
    ISSN (online) 1474-547X
    ISSN 0140-6736 ; 0023-7507
    DOI 10.1016/s0140-6736(84)90262-9
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  7. Article: Severe mental handicap: pathogenesis, treatment, and prevention.

    Crawfurd, M D

    British medical journal (Clinical research ed.)

    1982  Volume 285, Issue 6344, Page(s) 762–766

    MeSH term(s) Adolescent ; Adult ; Down Syndrome/diagnosis ; Female ; Fragile X Syndrome/diagnosis ; Fragile X Syndrome/etiology ; Genetic Counseling ; Humans ; Infant, Newborn ; Intellectual Disability/etiology ; Intellectual Disability/prevention & control ; Intellectual Disability/therapy ; Male ; Metabolism, Inborn Errors/complications ; Metabolism, Inborn Errors/diagnosis ; Metabolism, Inborn Errors/diet therapy ; Phenylketonurias/diet therapy ; Pregnancy ; Prenatal Diagnosis ; Spina Bifida Occulta/diagnosis
    Language English
    Publishing date 1982-09-18
    Publishing country England
    Document type Journal Article ; Review
    ZDB-ID 80088-0
    ISSN 0267-0623 ; 0959-8138 ; 0959-8146 ; 0007-1447
    ISSN 0267-0623 ; 0959-8138 ; 0959-8146 ; 0007-1447
    DOI 10.1136/bmj.285.6344.762
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  8. Article: Renal dysplasia and asplenia in two sibs.

    Crawfurd, M D

    Clinical genetics

    1978  Volume 14, Issue 6, Page(s) 338–344

    Abstract: A family is reported in which two sibs, one male and the other female, both died within 24 hours of birth with enlarged polycystic kidneys. Postmortem histology in the second child showed gross renal dysplasia. In both children the pancreas was enlarged, ...

    Abstract A family is reported in which two sibs, one male and the other female, both died within 24 hours of birth with enlarged polycystic kidneys. Postmortem histology in the second child showed gross renal dysplasia. In both children the pancreas was enlarged, nodular and cystic but the liver appeared macroscopically normal. In the second child, histological examination confirmed pancreatic fibrosis with cystic dilation of ducts, but showed portal fibrosis with bile duct proliferation in the liver. This combination of findings is very reminiscent of those in a girl and her brother reported by Ivemark et al. (1959). The children reported here also showed absence or hypoplasia of the spleen, cardiac anomalies and other features of the Ivemark syndrome (Ivemark 1955), a quite different, usually sporadic, congenital disorder. It is suggested that the children described here have a distinct lethal congenital disorder, probably inherited in an autosomal recessive manner.
    MeSH term(s) Abnormalities, Multiple/genetics ; Female ; Genes, Recessive ; Humans ; Infant, Newborn ; Kidney/abnormalities ; Kidney/pathology ; Liver/abnormalities ; Liver/pathology ; Male ; Pancreas/pathology ; Pedigree ; Spleen/abnormalities
    Language English
    Publishing date 1978-12
    Publishing country Denmark
    Document type Case Reports ; Journal Article
    ZDB-ID 221209-2
    ISSN 1399-0004 ; 0009-9163
    ISSN (online) 1399-0004
    ISSN 0009-9163
    DOI 10.1111/j.1399-0004.1978.tb02099.x
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  9. Article ; Online: Concentrations and Uptake of Dissolved Organic Phosphorus Compounds in the Baltic Sea

    Nausch, Monika / Achterberg, Eric P. / Bach, Lennart T. / Brussaard, Corinna P. D. / Crawfurd, Katharine J. / Fabian, Jenny / Riebesell, Ulf / Stuhr, Annegret / Unger, Juliane / Wannicke, Nicola

    2018  

    Abstract: ... components are not linked to each other. DIP was taken up at rates of 10.1–380.8 nM d-1. dATP-P and dDNA-P ... were consumed simultaneously with DIP at rates of 6.9–24.1 and 0.09–0.19 nM d-1, respectively ...

    Abstract The dissolved organic phosphorus (DOP) pool in marine waters contains a variety of different compounds. Knowledge of the distribution and utilization of DOP by phyto- and bacterioplankton is limited, but critical to our understanding of the marine phosphorus cycle. In the Baltic Sea, detailed information about the composition of DOP and its turnover is lacking. This study reports the concentrations and uptake rates of DOP compounds, namely, adenosine triphosphate (dATP), deoxyribonucleic acid (dDNA), and phospholipids (dPL), in the Baltic Proper and in Finnish coastal waters in the summers of 2011 and 2012. Both areas differed in their dissolved inorganic phosphorus (DIP) concentrations (0.16 and 0.02–0.04 μM), in the C:P (123–178) and N:P (18–27) ratios, and in abundances of filamentous cyanobacteria and of autotrophic and heterotrophic picoplankton. The mean concentrations of dATP-P, dDNA-P, and dPL-P were 4.3–6.4, 0.05–0.12, and 1.9–6.8 nM, respectively, together contributing between 2.4 and 5.2% of the total DOP concentration. The concentrations of the compounds varied between and within the investigated regions and the distribution patterns of the individual components are not linked to each other. DIP was taken up at rates of 10.1–380.8 nM d-1. dATP-P and dDNA-P were consumed simultaneously with DIP at rates of 6.9–24.1 and 0.09–0.19 nM d-1, respectively, with the main proportion taken up by the size fraction <3 μm and with DIP to be the dominant source. Groups of hydrographical and biological parameters were identified in the multiple regression analysis to impact the concentrations and uptake rates. It points to the complexity of the regulation. Our results indicate that the investigated DOP compounds, particularly dATP-P, can make significant contributions to the P nutrition of microorganisms and their use seems to be not intertwined. Therefore, more detailed knowledge of all DOP components including variation of concentrations and the utilization is required to understand the roles of DOP in marine ...
    Subject code 333
    Language English
    Publishing date 2018-12-10
    Publisher Frontiers
    Publishing country de
    Document type Article ; Online
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  10. Article: Letter: Frequency of cystic-fibrosis gene.

    Crawfurd, M D

    Lancet (London, England)

    1975  Volume 1, Issue 7899, Page(s) 167

    MeSH term(s) Cystic Fibrosis/genetics ; European Continental Ancestry Group ; Genes ; Heterozygote ; Homozygote ; Humans
    Language English
    Publishing date 1975-01-18
    Publishing country England
    Document type Comparative Study ; Journal Article
    ZDB-ID 3306-6
    ISSN 1474-547X ; 0140-6736 ; 0023-7507
    ISSN (online) 1474-547X
    ISSN 0140-6736 ; 0023-7507
    DOI 10.1016/s0140-6736(75)91468-3
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