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  1. Book: Timor's Ultrasonography of the prenatal brain

    Malinger, Gustavo / Pilu, Gianluigi / Paladini, Dario / Timor-Tritsch, Ilan E.

    2023  

    Title variant Ultrasonography of the prenatal brain
    Author's details edited by Gustavo Malinger, Ana Monteagudo, Gianluigi Pilu, Dario Paladini, Ilan Timor-Tritsch
    Keywords Fetal Diseases / diagnostic imaging ; Ultrasonography Brain / embryology ; Brain / growth & development ; Echoencephalography ; Infant, Newborn, Diseases / diagnostic imaging ; Fetal brain/Abnormalities/Ultrasonic imaging ; Ultrasonic encephalography
    Subject code 618.3268
    Language English
    Size xvi, 636 Seiten, Illustrationen
    Edition Fourth edition
    Publisher McGraw Hill
    Publishing place New York
    Publishing country United States
    Document type Book
    HBZ-ID HT030009329
    ISBN 978-1-260-13616-6 ; 1-260-13616-7
    Database Catalogue ZB MED Medicine, Health

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    In stock of ZB MED Cologne/Königswinter

    Shelf markLoan statusLocation
    2023 A 618 available for loan (reading room) Lesesaal EG

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  2. Article ; Online: Prenatal characterization of novel neurosonographic findings in a fetus with SOTOS syndrome.

    Bornstein, Eran / Reiss, Sarah / Malinger, Gustavo

    Prenatal diagnosis

    2023  Volume 44, Issue 3, Page(s) 360–363

    Abstract: Sotos syndrome is a rare genetic disorder that occurs in less than 1 in 10,000 births. It is characterized by rapid growth during childhood (tall stature and unusually large head), typical facial dysmorphic features, neurodevelopmental delays of both ... ...

    Abstract Sotos syndrome is a rare genetic disorder that occurs in less than 1 in 10,000 births. It is characterized by rapid growth during childhood (tall stature and unusually large head), typical facial dysmorphic features, neurodevelopmental delays of both mental and movement abilities, and learning disabilities. Prenatal diagnosis of Sotos syndrome is infrequent and sonographic findings are not well characterized as the condition is generally detected during childhood. We present a case in which routine third trimester ultrasound detected intracranial findings including ventriculomegaly, periventricular pseudocysts, and increased periventricular echogenicity. Although initially suspected to be the result of fetal infection with CMV, amniocentesis excluded fetal infection and microarray analysis detected a de novo 2.13 MB interstitial deletion of 5q35.2-35.3 involving several genes including the NSD1 gene, thus confirming the diagnosis of Sotos syndrome. This case provides novel characterization of the sonographic phenotype in a fetus with Sotos syndrome and discusses the differential diagnosis.
    MeSH term(s) Pregnancy ; Female ; Humans ; Sotos Syndrome/diagnostic imaging ; Sotos Syndrome/genetics ; Histone-Lysine N-Methyltransferase/genetics ; Histone Methyltransferases/genetics ; Phenotype ; Fetus
    Chemical Substances Histone-Lysine N-Methyltransferase (EC 2.1.1.43) ; Histone Methyltransferases (EC 2.1.1.-)
    Language English
    Publishing date 2023-12-27
    Publishing country England
    Document type Case Reports
    ZDB-ID 82031-3
    ISSN 1097-0223 ; 0197-3851
    ISSN (online) 1097-0223
    ISSN 0197-3851
    DOI 10.1002/pd.6504
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

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    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)

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  3. Article ; Online: A de novo pathogenic variant in DHX30 gene in a fetus with isolated dysgenesis of the corpus callosum.

    Haratz, Karina Krajden / Malinger, Gustavo / Erlik, Uri / Goldstein, Rayna / Shohat, Mordechai / Birnbaum, Roee

    Prenatal diagnosis

    2024  Volume 44, Issue 3, Page(s) 357–359

    Abstract: A 36 years old woman in her first pregnancy was referred at 24w3d for a dedicated neurosonographic examination due to a suspected short corpus callosum (CC). The examination depicted a dysgenetic CC with asymmetric thickness at the level of the body in ... ...

    Abstract A 36 years old woman in her first pregnancy was referred at 24w3d for a dedicated neurosonographic examination due to a suspected short corpus callosum (CC). The examination depicted a dysgenetic CC with asymmetric thickness at the level of the body in coronal views, very thin in the midline and thicker in both sides, suggesting bilateral formation of Probst bundles. The BPD, HC, and transverse cerebellar diameters were in the normal low range without associated growth restriction. Associated anomalies were not detected in the brain or other organs. Following genetic consultation and a normal CMA, trio exome sequencing was performed and a de novo missense pathogenic mutation c.2353 C > T in the DHX30 gene was detected. This variant has been previously reported in children and adults, mostly with a severe phenotype including neurodevelopmental disorder with variable motor and language impairment, but also mild phenotypes have been reported. MRI describes delayed myelination, ventriculomegaly, and cortical and cerebellar atrophy as imaging features in affected patients. This is the first prenatal report of a DHX30-associated neurodevelopmental disorder in which the fetus presents with isolated callosal dysgenesis, stressing the importance of exome sequencing in fetuses with this condition, as far as it is phenotypic presentation of numerous syndromes with different outcomes.
    MeSH term(s) Adult ; Female ; Humans ; Pregnancy ; Agenesis of Corpus Callosum/diagnostic imaging ; Agenesis of Corpus Callosum/genetics ; Brain/abnormalities ; Corpus Callosum/diagnostic imaging ; Fetus ; Hydrocephalus/pathology ; Magnetic Resonance Imaging/methods ; RNA Helicases
    Chemical Substances DHX30 protein, human (EC 2.7.7.-) ; RNA Helicases (EC 3.6.4.13)
    Language English
    Publishing date 2024-02-17
    Publishing country England
    Document type Case Reports
    ZDB-ID 82031-3
    ISSN 1097-0223 ; 0197-3851
    ISSN (online) 1097-0223
    ISSN 0197-3851
    DOI 10.1002/pd.6536
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

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    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
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    ab Jg. 2022: Lesesaal (EG)

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  4. Article ; Online: A New BCl6 Transcriptional Corepressor Variant Mosaicism in a Fetus with Severe Fetal-Eye Anomalies.

    Malinger, Andrés / Brusilov, Michael / Mitzad Koresh, Daphna / Shohat, Mordechai / Malinger, Gustavo

    Fetal diagnosis and therapy

    2022  Volume 49, Issue 3, Page(s) 114–116

    Abstract: We present the prenatal imaging of a fetus with severe eye anomalies diagnosed as carrying a new variant mosaicism on the BCOR gene. ...

    Abstract We present the prenatal imaging of a fetus with severe eye anomalies diagnosed as carrying a new variant mosaicism on the BCOR gene.
    MeSH term(s) Co-Repressor Proteins ; Female ; Fetus/diagnostic imaging ; Humans ; Mosaicism ; Pregnancy ; Prenatal Diagnosis/methods ; Proto-Oncogene Proteins c-bcl-6 ; Ultrasonography, Prenatal/methods
    Chemical Substances BCL6 protein, human ; Co-Repressor Proteins ; Proto-Oncogene Proteins c-bcl-6
    Language English
    Publishing date 2022-03-31
    Publishing country Switzerland
    Document type Case Reports
    ZDB-ID 1066460-9
    ISSN 1421-9964 ; 1015-3837
    ISSN (online) 1421-9964
    ISSN 1015-3837
    DOI 10.1159/000524360
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 2146: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
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    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)

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  5. Article ; Online: Reply to: Addressing expectations of therapeutic options for children with hydrocephalus-A comment on "Fetal Cerebral Ventriculomegaly. What do we tell the prospective parents?"

    Giorgione, Veronica / Haratz, Karina Krajden / Constantini, Shlomi / Birnbaum, Roee / Malinger, Gustavo

    Prenatal diagnosis

    2023  Volume 43, Issue 6, Page(s) 806

    MeSH term(s) Child ; Humans ; Female ; Pregnancy ; Motivation ; Prospective Studies ; Hydrocephalus ; Prenatal Diagnosis ; Cerebral Ventricles/diagnostic imaging ; Ultrasonography, Prenatal
    Language English
    Publishing date 2023-04-16
    Publishing country England
    Document type Letter
    ZDB-ID 82031-3
    ISSN 1097-0223 ; 0197-3851
    ISSN (online) 1097-0223
    ISSN 0197-3851
    DOI 10.1002/pd.6350
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

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    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
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  6. Article ; Online: Prenatal Diagnosis of Snijders Blok-Campeau Syndrome in a Fetus with Macrocephaly.

    Malinger, Gustavo / Hoffmann, Chen / Achiron, Reuven / Berkenstadt, Michal

    Fetal diagnosis and therapy

    2021  Volume 48, Issue 5, Page(s) 407–410

    Abstract: We present the prenatal imaging and whole exomics sequencing with the newly described Snijders Blok-Campeau macrocephaly syndrome. ...

    Abstract We present the prenatal imaging and whole exomics sequencing with the newly described Snijders Blok-Campeau macrocephaly syndrome.
    MeSH term(s) Female ; Fetus/diagnostic imaging ; Humans ; Megalencephaly/diagnostic imaging ; Megalencephaly/genetics ; Pregnancy ; Prenatal Diagnosis ; Ultrasonography, Prenatal ; Whole Exome Sequencing
    Language English
    Publishing date 2021-05-17
    Publishing country Switzerland
    Document type Case Reports
    ZDB-ID 1066460-9
    ISSN 1421-9964 ; 1015-3837
    ISSN (online) 1421-9964
    ISSN 1015-3837
    DOI 10.1159/000514326
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 2146: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
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    ab Jg. 2022: Lesesaal (EG)

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  7. Article ; Online: The normal 14-18 gestational weeks "parasagittal complex" view of the fetal brain. A 3D transvaginal neurosonographic study.

    Birnbaum, Roee / Kuperberg, Maya / Brusilov, Michael / Wolman, Igal / Malinger, Gustavo / Haratz, Karina Krajden

    Prenatal diagnosis

    2023  Volume 43, Issue 12, Page(s) 1520–1526

    Abstract: Objective: To study the early second trimester development of brain hemispheres, lateral ventricles, choroid plexus, and ganglionic eminence/basal ganglia complex (GEBG).: Methods: A retrospective analysis of TVUS 3D volumes of 14-18 gestational ... ...

    Abstract Objective: To study the early second trimester development of brain hemispheres, lateral ventricles, choroid plexus, and ganglionic eminence/basal ganglia complex (GEBG).
    Methods: A retrospective analysis of TVUS 3D volumes of 14-18 gestational weeks (GW) fetuses. Hemispheres were analyzed for wall thickness, choroid plexus extension, GEBG height and length, lamination pattern (intermediate zone and the subplate border, IZ-SP), ventricle height, width, and angle. Measurements were correlated with GW and assessed for symmetry and impact of probe resolution.
    Results: We included 84 fetuses (168 hemispheres). The CP location is variable at 14-16 GW, becoming consistently and symmetrically posterior at 18 GW. Hemispheric thickness, GEBG height and length grow significantly with fetal age, whereas ventricle height, width, and angle regress. The detection rate of the IZ-SP line at 14, 15, 16, 17, and 18 weeks was 0%, 24%, 78.26%, 100%, and 100%, respectively. The ratio between the upper and lower segments of the cerebral lamination grows with GW. For all brain structures, the asymmetry between sides was significant only for ventricular height. The transducer type did not have a significant effect on any outcome except for ventricle height.
    Conclusion: These normal features of the parasagittal view should aid clinicians in fetal brain assessment during the early weeks of the second trimester.
    MeSH term(s) Humans ; Female ; Pregnancy ; Retrospective Studies ; Brain ; Cerebral Ventricles/diagnostic imaging ; Gestational Age ; Fetus ; Ultrasonography, Prenatal
    Language English
    Publishing date 2023-11-09
    Publishing country England
    Document type Journal Article
    ZDB-ID 82031-3
    ISSN 1097-0223 ; 0197-3851
    ISSN (online) 1097-0223
    ISSN 0197-3851
    DOI 10.1002/pd.6456
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  8. Article ; Online: Fetal Neurology.

    Malinger, Gustavo / Lerman-Sagie, Tally

    European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

    2018  Volume 22, Issue 6, Page(s) 895–897

    Language English
    Publishing date 2018-11-22
    Publishing country England
    Document type Editorial ; Introductory Journal Article
    ZDB-ID 1397146-3
    ISSN 1532-2130 ; 1090-3798
    ISSN (online) 1532-2130
    ISSN 1090-3798
    DOI 10.1016/j.ejpn.2018.11.004
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  9. Article ; Online: Prenatal diagnosis of microcephaly as shown by plateauing of head circumference growth during the 3rd trimester in a fetus with a CCND2 inverse growth variant.

    Malinger, Gustavo / Haratz Krajden, Karina / Brinbaum, Roee / Tsur, Erez / Berger, Racheli / Shohat, Mordechai

    Prenatal diagnosis

    2022  Volume 42, Issue 10, Page(s) 1343–1345

    MeSH term(s) Cyclin D2 ; Female ; Fetus/diagnostic imaging ; Head/diagnostic imaging ; Humans ; Microcephaly/diagnostic imaging ; Nervous System Malformations ; Pregnancy ; Pregnancy Trimester, Third ; Prenatal Diagnosis ; Ultrasonography, Prenatal
    Chemical Substances CCND2 protein, human ; Cyclin D2
    Language English
    Publishing date 2022-04-28
    Publishing country England
    Document type Journal Article
    ZDB-ID 82031-3
    ISSN 1097-0223 ; 0197-3851
    ISSN (online) 1097-0223
    ISSN 0197-3851
    DOI 10.1002/pd.6148
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  10. Article ; Online: Clinical Practice Guidelines and Recommendations by The World Association of Perinatal Medicine and Perinatal Medicine Foundation. Reporting Suspected Findings from Fetal Central Nervous System Examination.

    De Robertis, Valentina / Sen, Cihat / Timor-Tritsch, Ilan / Volpe, Paolo / Galindo, Alberto / Khalil, Asma / Volpe, Nicola / Gil, Maria Del Mar / Birnbaum, Roee / Villalain, Cecilia / Malinger, Gustavo

    Fetal diagnosis and therapy

    2024  

    Abstract: These guidelines follow the mission of the World Association of Perinatal Medicine, in collaboration with the Perinatal Medicine Foundation, which brings together groups and individuals worldwide, with the aim to improve prenatal detection of Central ... ...

    Abstract These guidelines follow the mission of the World Association of Perinatal Medicine, in collaboration with the Perinatal Medicine Foundation, which brings together groups and individuals worldwide, with the aim to improve prenatal detection of Central Nervous System anomalies and the appropriate referral of pregnancies with suspected fetal anomalies. In addition, this document provides further guidance for healthcare practitioners with the goal of standardizing the description of ultrasonographic abnormal findings.
    Language English
    Publishing date 2024-02-02
    Publishing country Switzerland
    Document type Practice Guideline
    ZDB-ID 1066460-9
    ISSN 1421-9964 ; 1015-3837
    ISSN (online) 1421-9964
    ISSN 1015-3837
    DOI 10.1159/000535917
    Database MEDical Literature Analysis and Retrieval System OnLINE

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