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  1. Book ; Thesis: Cytogenetische Untersuchungen zur Herkunft des überzähligen Chromosoms bei Trisomie 21

    Albrecht, Beate Hilde

    1987  

    Author's details vorgelegt von Beate Hilde Albrecht, geb. Klein
    Keywords Down Syndrome / etiology ; Nondisjunction, Genetic
    Size 51 Bl. : Ill., graph. Darst.
    Document type Book ; Thesis
    Thesis / German Habilitation thesis Essen, Univ., Diss., 1987
    HBZ-ID HT003023810
    Database Catalogue ZB MED Medicine, Health

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    In stock of ZB MED Cologne/Königswinter

    Shelf markLoan statusLocation
    88 E 3093 order for loan Magazin

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  2. Book ; Online ; Thesis: Evangelische Publizistik und NS-Diktatur 1933 bis 1941

    Albrecht, Beate

    am Beispiel des Hannoverschen Sonntagsblattes, des Stuttgarter Evangelischen Sonntagsblattes und der Jungen Kirche

    2002  

    Abstract: Protestant publishing, confessional church, protestant sunday ... ...

    Author's details von Beate Albrecht
    Abstract Protestant publishing, confessional church, protestant sunday papers
    Keywords Judenverfolgung ; Evangelische Publizistik ; Deutschland
    Language German
    Size Online-Ressource (352 p. = 1263 Kb)
    Edition [Elektronische Ressource]
    Publisher Universitätsbibliothek u. Technische Informationsbibliothek
    Publishing place Hannover
    Document type Book ; Online ; Thesis
    Thesis / German Habilitation thesis Univ., Diss.--Hannover, 2001
    Note Differences between the printed and electronic version of the document are possible
    Database Former special subject collection: coastal and deep sea fishing

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  3. Book ; Online ; Thesis: Evangelische Publizistik und NS-Diktatur 1933 bis 1941

    Albrecht, Beate

    am Beispiel des Hannoverschen Sonntagsblattes, des Stuttgarter Evangelischen Sonntagsblattes und der Jungen Kirche

    2002  

    Abstract: Protestant publishing, confessional church, protestant sunday ... ...

    Author's details von Beate Albrecht
    Abstract Protestant publishing, confessional church, protestant sunday papers
    Language German
    Size Online-Ressource (352 p. = 1263 Kb)
    Edition [Elektronische Ressource]
    Publisher Universitätsbibliothek u. Technische Informationsbibliothek
    Publishing place Hannover
    Document type Book ; Online ; Thesis
    Thesis / German Habilitation thesis Univ., Diss.--Hannover, 2001
    Note Differences between the printed and electronic version of the document are possible
    Database Library catalogue of the German National Library of Science and Technology (TIB), Hannover

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  4. Book: TP1, Koordination des Konsortiums

    Horsthemke, Bernhard / Albrecht, Beate / Buiting, Karin

    TP2, Genetische und epigenetische Analysen bei Patienten mit einem Imprintingdefekt ; Schlussbericht

    2015  

    Title variant Imprinting NetworkDiseases caused by imprinting defects: Clinicaland pathogenetic mechanisms, subproject 2: Imprinting defects in Prader-Willy and Angelman syndromes and related disorders
    Author's details [Autoren]: Bernhard Horsthemke; Karin Buiting; [Beate Albrecht]
    Language German ; English
    Size [10] Bl., Ill., graph. Darst.
    Publisher Univ. Duisburg-Essen, Univ.-Klinikum Essen, Inst. für Humangenetik
    Publishing place Essen
    Document type Book
    Note Zsfassungen in dt. u. engl. Sprache ; Förderkennzeichen BMBF 01GM1114A. - Verbund-Nr. 01070130. - Engl. Berichtsbl. u.d.T.: Imprinting NetworkDiseases caused by imprinting defects: Clinicaland pathogenetic mechanisms, subproject 2: Imprinting defects in Prader-Willy and Angelman syndromes and related disorders
    Database Library catalogue of the German National Library of Science and Technology (TIB), Hannover

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  5. Book ; Thesis: Evangelische Publizistik und NS-Diktatur 1933 bis 1941

    Albrecht, Beate

    am Beispiel des Hannoverschen Sonntagsblattes, des Stuttgarter Evangelischen Sonntagsblattes und der Jungen Kirche

    2002  

    Author's details von Beate Albrecht
    Language German
    Size 361 S
    Document type Book ; Thesis
    Thesis / German Habilitation thesis Univ., Diss.--Hannover, 2001
    Note Auch als elektronisches Dokument vorh. ; Unterschiede zwischen dem gedruckten Dokument und der elektronischen Ressource können nicht ausgeschlossen werden
    Database Library catalogue of the German National Library of Science and Technology (TIB), Hannover

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  6. Article: Successful methylphenidate treatment of early onset extreme obesity in a child with a melanocortin-4 receptor gene mutation and attention deficit/hyperactivity disorder

    Albayrak, Özgür / Albrecht, Beate / Scherag, Susann / Barth, Nikolaus / Hinney, Anke / Hebebrand, Johannes

    European journal of pharmacology. 2011 June 11, v. 660, no. 1

    2011  

    Abstract: We present the case report of a 2year old boy with early onset extreme obesity (body mass index (BMI) 34.2kg/m²; body mass index standard deviation score (BMI-SDS) 5.4) who is heterozygous for a non-conservative functionally relevant melanocortin MC₄ ... ...

    Abstract We present the case report of a 2year old boy with early onset extreme obesity (body mass index (BMI) 34.2kg/m²; body mass index standard deviation score (BMI-SDS) 5.4) who is heterozygous for a non-conservative functionally relevant melanocortin MC₄receptor mutation (Glu308Lys) and who also showed severe symptoms of attention deficit/hyperactivity disorder (ADHD). Treatment with the stimulant methylphenidate led to a sharp decrease of BMI to 21.8kg/m² (BMI-SDS 2.8) within 24months. We discuss potential mechanisms for this unusually large weight loss and suggest a potential link between the melanocortinergic and the dopaminergic systems, and the sympathetic nervous system. The potential benefit of methylphenidate in obese melanocortin MC₄receptor mutation carriers with and without co-morbid ADHD warrants further studies.
    Keywords body mass index ; boys ; case studies ; childhood obesity ; genes ; heterozygosity ; mutation ; pharmacology ; sympathetic nervous system ; weight loss
    Language English
    Dates of publication 2011-0611
    Size p. 165-170.
    Publishing place Elsevier B.V.
    Document type Article
    ZDB-ID 80121-5
    ISSN 1879-0712 ; 0014-2999
    ISSN (online) 1879-0712
    ISSN 0014-2999
    DOI 10.1016/j.ejphar.2010.12.023
    Database NAL-Catalogue (AGRICOLA)

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    In stock of ZB MED Bonn / Germany

    Z 75/515: Show issues

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  7. Book ; Thesis: Die Disziplinierung der Linken 1977 und der Fall Peter Brückner

    Albrecht, Beate

    1992  

    Author's details von Beate Albrecht
    Language German
    Size 150 Bl
    Document type Book ; Thesis
    Thesis / German Habilitation thesis Univ., Magisterarbeit--Hannover, 1992
    Database Library catalogue of the German National Library of Science and Technology (TIB), Hannover

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  8. Article ; Online: A patient with a de-novo deletion 3p25.3 and features overlapping with Rubinstein-Taybi syndrome.

    Czeschik, Johanna Christina / Albrecht, Beate / Kayserili, Hülya / Kuechler, Alma / Wagner, Nicholas / Wieczorek, Dagmar / Lüdecke, Hermann-Josef

    Clinical dysmorphology

    2014  Volume 23, Issue 2, Page(s) 67–70

    MeSH term(s) Adult ; Chromosome Deletion ; Chromosomes, Human, Pair 3/genetics ; Developmental Disabilities/genetics ; Developmental Disabilities/physiopathology ; Female ; Humans ; Mutation ; Rubinstein-Taybi Syndrome/etiology ; Rubinstein-Taybi Syndrome/genetics ; Rubinstein-Taybi Syndrome/physiopathology
    Language English
    Publishing date 2014-04
    Publishing country England
    Document type Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1121482-x
    ISSN 1473-5717 ; 0962-8827
    ISSN (online) 1473-5717
    ISSN 0962-8827
    DOI 10.1097/MCD.0000000000000035
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 3528: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (2.OG)
    ab Jg. 2022: Lesesaal (EG)

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  9. Article ; Online: Successful methylphenidate treatment of early onset extreme obesity in a child with a melanocortin-4 receptor gene mutation and attention deficit/hyperactivity disorder.

    Albayrak, Ozgür / Albrecht, Beate / Scherag, Susann / Barth, Nikolaus / Hinney, Anke / Hebebrand, Johannes

    European journal of pharmacology

    2011  Volume 660, Issue 1, Page(s) 165–170

    Abstract: We present the case report of a 2 year old boy with early onset extreme obesity (body mass index (BMI) 34.2 kg/m²; body mass index standard deviation score (BMI-SDS) 5.4) who is heterozygous for a non-conservative functionally relevant melanocortin MC(4) ... ...

    Abstract We present the case report of a 2 year old boy with early onset extreme obesity (body mass index (BMI) 34.2 kg/m²; body mass index standard deviation score (BMI-SDS) 5.4) who is heterozygous for a non-conservative functionally relevant melanocortin MC(4)receptor mutation (Glu308Lys) and who also showed severe symptoms of attention deficit/hyperactivity disorder (ADHD). Treatment with the stimulant methylphenidate led to a sharp decrease of BMI to 21.8 kg/m² (BMI-SDS 2.8) within 24 months. We discuss potential mechanisms for this unusually large weight loss and suggest a potential link between the melanocortinergic and the dopaminergic systems, and the sympathetic nervous system. The potential benefit of methylphenidate in obese melanocortin MC(4)receptor mutation carriers with and without co-morbid ADHD warrants further studies.
    MeSH term(s) Attention Deficit Disorder with Hyperactivity/complications ; Child, Preschool ; Humans ; Male ; Methylphenidate/therapeutic use ; Mutation ; Obesity/complications ; Obesity/drug therapy ; Obesity/genetics ; Obesity/pathology ; Receptor, Melanocortin, Type 4/genetics
    Chemical Substances Receptor, Melanocortin, Type 4 ; Methylphenidate (207ZZ9QZ49)
    Language English
    Publishing date 2011-06-11
    Publishing country Netherlands
    Document type Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 80121-5
    ISSN 1879-0712 ; 0014-2999
    ISSN (online) 1879-0712
    ISSN 0014-2999
    DOI 10.1016/j.ejphar.2010.12.023
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 522: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)

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  10. Article ; Online: The maternal uniparental disomy of chromosome 6 (upd(6)mat) "phenotype": result of placental trisomy 6 mosaicism?

    Eggermann, Thomas / Oehl-Jaschkowitz, Barbara / Dicks, Severin / Thomas, Wolfgang / Kanber, Deniz / Albrecht, Beate / Begemann, Matthias / Kurth, Ingo / Beygo, Jasmin / Buiting, Karin

    Molecular genetics & genomic medicine

    2017  Volume 5, Issue 6, Page(s) 668–677

    Abstract: Background: Maternal uniparental disomy of chromosome 6 (upd(6)mat) is a rare finding and its clinical relevance is currently unclear. Based on clinical data from two new cases and patients from the literature, the pathogenetic significance of upd(6)mat ...

    Abstract Background: Maternal uniparental disomy of chromosome 6 (upd(6)mat) is a rare finding and its clinical relevance is currently unclear. Based on clinical data from two new cases and patients from the literature, the pathogenetic significance of upd(6)mat is delineated.
    Methods: Own cases were molecularly characterized for isodisomic uniparental regions on chromosome 6. For further cases with upd(6)mat, a literature search was conducted and genetic and clinical data were ascertained.
    Results: Comparison of isodisomic regions between the new upd(6)mat cases and those from four reports did not reveal any common isodisomic region. Among the patients with available cytogenetic data, five had a normal karyotype in lymphocytes, whereas a trisomy 6 (mosaicism) was detected prenatally in four cases. A common clinical picture was not obvious in upd(6)mat, but intrauterine growth restriction (IUGR) and preterm delivery were frequent.
    Conclusion: A common upd(6)mat phenotype is not obvious, but placental dysfunction due to trisomy 6 mosaicism probably contributes to IUGR and preterm delivery. In fact, other clinical features observed in upd(6)mat patients might be caused by homozygosity of recessive mutations or by an undetected trisomy 6 cell line. Upd(6)mat itself is not associated with clinical features, and can rather be regarded as a biomarker. In case upd(6)mat is detected, the cause for the phenotype is identified indirectly, but the UPD is not the basic cause.
    MeSH term(s) Biomarkers/metabolism ; Chromosomes, Human, Pair 6 ; Cullin Proteins/genetics ; Female ; Fetal Growth Retardation/diagnosis ; Fetal Growth Retardation/genetics ; Genetic Testing ; Humans ; Infant, Newborn ; Karyotype ; Male ; Mosaicism ; Oligonucleotide Array Sequence Analysis ; Phenotype ; Placenta/metabolism ; Polymorphism, Single Nucleotide ; Pregnancy ; Premature Birth ; Steroid 21-Hydroxylase/genetics ; Trisomy/diagnosis ; Trisomy/genetics ; Uniparental Disomy/genetics ; Uniparental Disomy/pathology
    Chemical Substances Biomarkers ; CUL7 protein, human ; Cullin Proteins ; CYP21A2 protein, human (EC 1.14.14.16) ; Steroid 21-Hydroxylase (EC 1.14.14.16)
    Language English
    Publishing date 2017-09-22
    Publishing country United States
    Document type Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2734884-2
    ISSN 2324-9269 ; 2324-9269
    ISSN (online) 2324-9269
    ISSN 2324-9269
    DOI 10.1002/mgg3.324
    Database MEDical Literature Analysis and Retrieval System OnLINE

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