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  1. Article ; Online: Clinical overview on RASopathies.

    Zenker, Martin

    American journal of medical genetics. Part C, Seminars in medical genetics

    2022  Volume 190, Issue 4, Page(s) 414–424

    Abstract: RASopathies comprise a group of clinically overlapping developmental disorders caused by genetic variations affecting components or modulators of the RAS-MAPK signaling cascade, which lead to dysregulation of signal flow through this pathway. Noonan ... ...

    Abstract RASopathies comprise a group of clinically overlapping developmental disorders caused by genetic variations affecting components or modulators of the RAS-MAPK signaling cascade, which lead to dysregulation of signal flow through this pathway. Noonan syndrome and the less frequent, clinically related disorders, Costello syndrome, cardiofaciocutaneous syndrome, Noonan syndrome with multiple lentigines, and Noonan syndrome-like disorder with loose anagen hair are part of the RASopathy spectrum and share a recognizable pattern of multisystem involvement. This review describes the "Noonan syndrome-like" phenotype as a common phenotypic signature of generalized developmental RAS pathway dysregulation. Distinctive features of the different entities are revisited against the background of the understanding of underlying genetic alterations and genotype correlations, which has evolved rapidly during the past 20 years, thereby leading to suggestions regarding the nosology of RASopathies.
    MeSH term(s) Humans ; Noonan Syndrome/genetics ; Heart Defects, Congenital/genetics ; Costello Syndrome/genetics ; Failure to Thrive/genetics ; Mutation
    Language English
    Publishing date 2022-11-25
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 2108622-9
    ISSN 1552-4876 ; 0148-7299 ; 1552-4868
    ISSN (online) 1552-4876
    ISSN 0148-7299 ; 1552-4868
    DOI 10.1002/ajmg.c.32015
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article: Die Chirurgie Martin Kirschners in unserer Zeit.

    Zenker, R

    MMW, Munchener medizinische Wochenschrift

    1980  Volume 122, Issue 9, Page(s) 318–319

    Title translation Martin Kirschner's surgery in our time.
    MeSH term(s) Anesthesia/history ; Anniversaries and Special Events ; Bronchial Neoplasms/therapy ; Electrocoagulation/history ; Esophagus/surgery ; Fracture Fixation, Internal/history ; Germany, West ; History, 19th Century ; History, 20th Century ; Lung/surgery ; Precancerous Conditions/diagnosis
    Language German
    Publishing date 1980-02-29
    Publishing country Germany
    Document type Biography ; Historical Article ; Journal Article
    ZDB-ID 200445-8
    ISSN 0341-3098 ; 0027-2973 ; 0724-8210
    ISSN 0341-3098 ; 0027-2973 ; 0724-8210
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  3. Book ; Online: Noonan syndrome and related disorders

    Zenker, Martin

    a matter of deregulated ras signaling ; from basic molecular research to clinical practice

    2009  

    Author's details vol. ed.: Martin Zenker
    Language English
    Size X + 168 S.
    Publisher Karger
    Publishing place Basel
    Publishing country Switzerland
    Document type Book ; Online
    HBZ-ID TT050388277
    ISBN 978-3-8055-8654-2 ; 3-8055-8654-X
    Database ZB MED Catalogue: Medicine, Health, Nutrition, Environment, Agriculture

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  4. Book: Der Drache Martin

    Zenker, Helmut

    Kinderroman

    (Luchterhand-Kinderbuch)

    1977  

    Abstract: Martin und sein Bruder Georg (beide tragen also die Namen berühmter Drachenkämpfer ...

    Author's details Helmut Zenker. Mit Zeichn. von Leo Leonhard
    Series title Luchterhand-Kinderbuch
    Abstract Martin und sein Bruder Georg (beide tragen also die Namen berühmter Drachenkämpfer) haben sich als Mitarbeiter in Geister- und Grottenbahn so gut angepaßt, daß sie als Verkleidungen durchgehen können. Erst in der Begegnung mit Kindern gewinnen sie ihre alte Identität (vermindert um ihre Gefährlichkeit) wieder zurück und siedeln sich in Wäldern außerhalb der Stadt an. Das Fortschreiten der Technik ist mächtiger als die "alten Drachen", ihnen bleibt nur die Flucht aufs Land. (PG) <dt.>
    Size 119 S, Ill, 21 cm
    Publisher Luchterhand
    Publishing place Darmstadt u.a.
    Document type Book
    ISBN 3472864354 ; 9783472864356
    Database Former special subject collection: coastal and deep sea fishing

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  5. Book: Noonan syndrome and related disorders

    Zenker, Martin

    a matter of deregulated ras signaling ; 16 tables

    (Monographs in human genetics ; 17)

    2009  

    Author's details vol. ed. Martin Zenker
    Series title Monographs in human genetics ; 17
    Collection
    Keywords Noonan Syndrome / genetics ; Noonan Syndrome / physiopathology ; Signal Transduction ; Ras Protein / genetics ; Noonan-Syndrom ; Molekularbiologie ; Ras-Proteine ; MAP-Kinase ; Signaltransduktion ; Pathophysiologie
    Subject Pathologische Physiologie ; Physiologische Pathologie ; Physiopathologie ; Signalübertragung ; Signalvermittlung ; Mitogen activated protein kinase ; Mitogen-activated proteinkinase ; MAPKinase ; MAPK ; Mitogen-aktivierte Proteinkinase ; p21ras ; Molekulare Biologie
    Language English
    Size X, 167 S. : Ill., graph. Darst.
    Edition 1. ed.
    Publisher Karger
    Publishing place Basel u.a.
    Publishing country Switzerland
    Document type Book
    HBZ-ID HT015712048
    ISBN 978-3-8055-8653-5 ; 9783805586542 ; 3-8055-8653-1 ; 380558654X
    Database Catalogue ZB MED Medicine, Health

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    Shelf markLoan statusLocation
    2008 A 5303 order for loan Magazin

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  6. Article ; Online: Unusual Findings in a Patient With Carney Complex due to a Novel

    Friedrich, Reinhard E / Zenker, Martin

    Anticancer research

    2022  Volume 42, Issue 12, Page(s) 6121–6125

    Abstract: Background/aim: Carney complex (CNC) is a rare autosomal dominant tumor-predisposition syndrome with variable expression. Its main features are pigmentary skin lesions, soft-tissue myxomas, and endocrine overactivity or tumors. There is occasional ... ...

    Abstract Background/aim: Carney complex (CNC) is a rare autosomal dominant tumor-predisposition syndrome with variable expression. Its main features are pigmentary skin lesions, soft-tissue myxomas, and endocrine overactivity or tumors. There is occasional overlap with other syndromes, and oligosymptomatic cases may escape diagnosis. This report describes the long journey of a patient until the diagnosis of CNC was finally made after a thorough diagnostic workup.
    Case report: The female patient was referred for treatment of a subcutaneous tumor of the lower abdomen. Medical reports detailed previous excisions of fibroma, neurofibroma and myxoma, and a malignant tumor of the cerebellopontine angle. The resected subcutaneous tumor was a myxoma. The identification of a previously unknown frameshift mutation in the gene for protein kinase cAMP-dependent type I regulatory subunit alpha (PRKAR1A) in the patient confirmed the diagnosis of CNC.
    Conclusion: Patients with CNC may have highly variable clinical findings. Some rare lesions in CNC are more commonly recorded in other syndromes, making early diagnosis difficult in some cases. Genetic testing greatly facilitates diagnosis.
    MeSH term(s) Humans ; Female ; Carney Complex/diagnosis ; Carney Complex/genetics ; Syndrome ; Transcription Factors ; Myxoma/diagnosis ; Myxoma/genetics ; Myxoma/surgery ; Mutation ; Cyclic AMP-Dependent Protein Kinase RIalpha Subunit/genetics
    Chemical Substances Transcription Factors ; PRKAR1A protein, human ; Cyclic AMP-Dependent Protein Kinase RIalpha Subunit
    Language English
    Publishing date 2022-12-01
    Publishing country Greece
    Document type Case Reports ; Journal Article
    ZDB-ID 604549-2
    ISSN 1791-7530 ; 0250-7005
    ISSN (online) 1791-7530
    ISSN 0250-7005
    DOI 10.21873/anticanres.16125
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article: Syndromic forms of congenital hyperinsulinism.

    Zenker, Martin / Mohnike, Klaus / Palm, Katja

    Frontiers in endocrinology

    2023  Volume 14, Page(s) 1013874

    Abstract: Congenital hyperinsulinism (CHI), also called hyperinsulinemic hypoglycemia (HH), is a very heterogeneous condition and represents the most common cause of severe and persistent hypoglycemia in infancy and childhood. The majority of cases in which a ... ...

    Abstract Congenital hyperinsulinism (CHI), also called hyperinsulinemic hypoglycemia (HH), is a very heterogeneous condition and represents the most common cause of severe and persistent hypoglycemia in infancy and childhood. The majority of cases in which a genetic cause can be identified have monogenic defects affecting pancreatic β-cells and their glucose-sensing system that regulates insulin secretion. However, CHI/HH has also been observed in a variety of syndromic disorders. The major categories of syndromes that have been found to be associated with CHI include overgrowth syndromes (e.g. Beckwith-Wiedemann and Sotos syndromes), chromosomal and monogenic developmental syndromes with postnatal growth failure (e.g. Turner, Kabuki, and Costello syndromes), congenital disorders of glycosylation, and syndromic channelopathies (e.g. Timothy syndrome). This article reviews syndromic conditions that have been asserted by the literature to be associated with CHI. We assess the evidence of the association, as well as the prevalence of CHI, its possible pathophysiology and its natural course in the respective conditions. In many of the CHI-associated syndromic conditions, the mechanism of dysregulation of glucose-sensing and insulin secretion is not completely understood and not directly related to known CHI genes. Moreover, in most of those syndromes the association seems to be inconsistent and the metabolic disturbance is transient. However, since neonatal hypoglycemia is an early sign of possible compromise in the newborn, which requires immediate diagnostic efforts and intervention, this symptom may be the first to bring a patient to medical attention. As a consequence, HH in a newborn or infant with associated congenital anomalies or additional medical issues remains a differential diagnostic challenge and may require a broad genetic workup.
    MeSH term(s) Infant ; Infant, Newborn ; Humans ; Child ; Congenital Hyperinsulinism/diagnosis ; Congenital Hyperinsulinism/genetics ; Beckwith-Wiedemann Syndrome/complications ; Insulin Secretion ; Glucose
    Chemical Substances Glucose (IY9XDZ35W2)
    Language English
    Publishing date 2023-03-30
    Publishing country Switzerland
    Document type Journal Article ; Review ; Research Support, Non-U.S. Gov't
    ZDB-ID 2592084-4
    ISSN 1664-2392
    ISSN 1664-2392
    DOI 10.3389/fendo.2023.1013874
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  8. Article: Editorial: Endocrine aspects of Noonan syndrome and related syndromes.

    Radetti, Giorgio / Edouard, Thomas / Mazzanti, Laura / Tartaglia, Marco / Zenker, Martin

    Frontiers in endocrinology

    2023  Volume 13, Page(s) 1127686

    MeSH term(s) Humans ; Noonan Syndrome/genetics ; MAP Kinase Signaling System ; Protein Tyrosine Phosphatase, Non-Receptor Type 11
    Chemical Substances Protein Tyrosine Phosphatase, Non-Receptor Type 11 (EC 3.1.3.48)
    Language English
    Publishing date 2023-01-05
    Publishing country Switzerland
    Document type Editorial ; Comment
    ZDB-ID 2592084-4
    ISSN 1664-2392
    ISSN 1664-2392
    DOI 10.3389/fendo.2022.1127686
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  9. Article ; Online: Krebserkrankungen bei Menschen mit einer Intelligenzminderung in Deutschland: Prävalenzen, Genetik und Versorgungslage.

    Sappok, Tanja / Kowalski, Christoph / Zenker, Martin / Weißinger, Florian / Berger, Andreas W

    Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz

    2024  Volume 67, Issue 3, Page(s) 362–369

    Abstract: Intellectual disability has a prevalence rate of approximately 1% of the population; in Germany, this is around 0.5-1 million people. The life expectancy of this group of people is reduced, with cancer being one of the most common causes of death (approx. ...

    Title translation Cancer in people with an intellectual disability in Germany: prevalence, genetics, and care situation.
    Abstract Intellectual disability has a prevalence rate of approximately 1% of the population; in Germany, this is around 0.5-1 million people. The life expectancy of this group of people is reduced, with cancer being one of the most common causes of death (approx. 20%). Overall, the risk of cancer and mortality is increased compared to the general population.Certain genetic syndromes predispose to cancer in this vulnerable group, but associated comorbidities or lifestyle could also be risk factors for cancer. People with cognitive impairments are less likely to attend preventive check-ups, and challenges arise in medical care due to physical, communicative, and interactional characteristics. Optimized cooperation between clinical centers for people with disabilities and the respective cancer centers is required in order to tailor the processes to the individual.In Germany, there is a lack of data on the prevalence of cancer entities and the use and need for healthcare services. There is an urgent need to focus attention on cancer prevention, treatment, and research in the vulnerable and heterogeneous group of people with intellectual disabilities suffering from cancer in order to effectively counteract the increase in cancer-related deaths in this population group.The article summarizes specialist knowledge on cancer in people with an intellectual disability, identifies special features of treatment, presents care structures, and derives specific requirements for clinics and research.
    MeSH term(s) Humans ; Intellectual Disability/diagnosis ; Intellectual Disability/epidemiology ; Intellectual Disability/genetics ; Prevalence ; Germany/epidemiology ; Delivery of Health Care ; Life Expectancy ; Neoplasms/epidemiology ; Neoplasms/genetics ; Neoplasms/therapy
    Language German
    Publishing date 2024-02-09
    Publishing country Germany
    Document type English Abstract ; Journal Article ; Review
    ZDB-ID 1461973-8
    ISSN 1437-1588 ; 1436-9990
    ISSN (online) 1437-1588
    ISSN 1436-9990
    DOI 10.1007/s00103-024-03837-1
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  10. Book ; Thesis: Perkutane Elektrostimulation mit bidirektionalen Strömen am denervierten Kaninchenmuskel

    Zenker, Martin

    1995  

    Author's details vorgelegt von Martin Zenker
    Language German
    Size 117 Bl. : graph. Darst.
    Edition [Mikrofiche-Ausg.]
    Document type Book ; Thesis
    Thesis / German Habilitation thesis Erlangen-Nürnberg, Univ., Diss., 1995
    Note Mikrofiche-Ausg.: 2 Mikrofiches : 24x
    HBZ-ID HT007297474
    Database Catalogue ZB MED Medicine, Health

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    Shelf markLoan statusLocation
    1996 MB 2227 order for loan Magazin

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