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  1. Book ; Online: Certifications of Critical Systems - The CECRIS Experience

    Bondavalli, Andrea / Brancati, Francesco

    2017  

    Keywords Automatic control engineering ; Distributed systems
    Language English
    Size 1 electronic resource (312 pages)
    Publisher Taylor and Francis
    Document type Book ; Online
    Note English
    HBZ-ID HT030382520
    ISBN 9788793519565 ; 8793519567
    Database ZB MED Catalogue: Medicine, Health, Nutrition, Environment, Agriculture

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  2. Article ; Online: Patient perspective in perceived comparative genetic mutation risk: An exploratory review.

    Cilli, Eleonora / Guerra, Federica / Ranieri, Jessica / Brancati, Francesco / Di Giacomo, Dina

    Clinical genetics

    2024  Volume 105, Issue 4, Page(s) 355–363

    Abstract: The genetic risk of chronic diseases represents a complex medical setting in which individuals need to adapt to health conditions that manage daily living towards to healthy behaviours. This exploratory review focused on psychological counselling for ... ...

    Abstract The genetic risk of chronic diseases represents a complex medical setting in which individuals need to adapt to health conditions that manage daily living towards to healthy behaviours. This exploratory review focused on psychological counselling for genetic risk diagnosis. This study aimed to address the psychological management of the impact of genetic risk on chronic diseases. We performed a systematic search of MEDLINE via PubMed, Embase, Web of Science, PsycINFO and Scopus for articles from May 2012 to August 2023. A descriptive analysis of the characteristics of the included studies was conducted. Based on the exclusion/inclusion criteria, the literature search yielded 250 studies. Seventeen full texts were assessed for eligibility and 207 articles were excluded. Observational (n = 15) and randomised clinical trials (n = 2) were examined. Most studies have been conducted on oncological diagnoses; the emotional dimensions examined have been worry, depression, anxiety and stress in most diseases. Psychological measures are based on self-reports and questionnaires; few studies have investigated the connections between quality of life, psychological traits and emotional dimensions. The complexity of clinics and from daily diagnostic and treatment practices to the everyday experience of those living with the risk of disease might be addressed in counselling settings to improve quality of life in genetic risk, increasing mental adaptation to tailored chronic conditions. Thus, the empowerment of communication of genetic risk information should be part of the general trend towards personalised medicine.
    MeSH term(s) Humans ; Quality of Life ; Psychotherapy/methods ; Anxiety/therapy ; Chronic Disease ; Counseling
    Language English
    Publishing date 2024-02-10
    Publishing country Denmark
    Document type Journal Article ; Review
    ZDB-ID 221209-2
    ISSN 1399-0004 ; 0009-9163
    ISSN (online) 1399-0004
    ISSN 0009-9163
    DOI 10.1111/cge.14489
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Genetics of familial adult myoclonus epilepsy: From linkage studies to noncoding repeat expansions.

    Corbett, Mark A / Depienne, Christel / Veneziano, Liana / Klein, Karl Martin / Brancati, Francesco / Guerrini, Renzo / Zara, Federico / Tsuji, Shoji / Gecz, Jozef

    Epilepsia

    2023  Volume 64 Suppl 1, Page(s) S14–S21

    Abstract: Familial adult myoclonus epilepsy (FAME) is a genetic epilepsy syndrome that for many years has resisted understanding of its underlying molecular cause. This review covers the history of FAME genetic studies worldwide, starting with linkage and ... ...

    Abstract Familial adult myoclonus epilepsy (FAME) is a genetic epilepsy syndrome that for many years has resisted understanding of its underlying molecular cause. This review covers the history of FAME genetic studies worldwide, starting with linkage and culminating in the discovery of noncoding TTTTA and inserted TTTCA pentanucleotide repeat expansions within six different genes to date (SAMD12, STARD7, MARCHF6, YEATS2, TNRC6A, and RAPGEF2). FAME occurs worldwide; however, repeat expansions in particular genes have regional geographical distributions. FAME repeat expansions are dynamic in nature, changing in length and structure within germline and somatic tissues. This variation poses challenges for molecular diagnosis such that molecular methods used to identify FAME repeat expansions typically require a trade-off between cost and efficiency. A rigorous evaluation of the sensitivity and specificity of each molecular approach remains to be performed. The origin of FAME repeat expansions and the genetic and environmental factors that modulate repeat variability are not well defined. Longer repeats and particular arrangements of the TTTTA and TTTCA motifs within an expansion are correlated with earlier onset and increased severity of disease. Other factors such as maternal or paternal inheritance, parental age, and repeat length alone have been suggested to influence repeat variation; however, further research is required to confirm this. The history of FAME genetics to the present is a chronicle of perseverance and predominantly collaborative efforts that yielded a successful outcome. The discovery of FAME repeats will spark progress toward a deeper understanding of the molecular pathogenesis of FAME, discovery of new loci, and development of cell and animal models.
    MeSH term(s) Humans ; Epilepsies, Myoclonic/genetics ; Epilepsies, Myoclonic/pathology ; Pedigree ; Research
    Language English
    Publishing date 2023-04-17
    Publishing country United States
    Document type Review ; Journal Article
    ZDB-ID 216382-2
    ISSN 1528-1167 ; 0013-9580
    ISSN (online) 1528-1167
    ISSN 0013-9580
    DOI 10.1111/epi.17610
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 517: Show issues Location:
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  4. Article: Targeted Next-Generation Sequencing Indicates a Frequent Oligogenic Involvement in Primary Ovarian Insufficiency Onset.

    Rossetti, Raffaella / Moleri, Silvia / Guizzardi, Fabiana / Gentilini, Davide / Libera, Laura / Marozzi, Anna / Moretti, Costanzo / Brancati, Francesco / Bonomi, Marco / Persani, Luca

    Frontiers in endocrinology

    2021  Volume 12, Page(s) 664645

    Abstract: Primary ovarian insufficiency (POI) is one of the major causes of female infertility associated with the premature loss of ovarian function in about 3.7% of women before the age of 40. This disorder is highly heterogeneous and can manifest with a wide ... ...

    Abstract Primary ovarian insufficiency (POI) is one of the major causes of female infertility associated with the premature loss of ovarian function in about 3.7% of women before the age of 40. This disorder is highly heterogeneous and can manifest with a wide range of clinical phenotypes, ranging from ovarian dysgenesis and primary amenorrhea to post-pubertal secondary amenorrhea, with elevated serum gonadotropins and hypoestrogenism. The ovarian defect still remains idiopathic in some cases; however, a strong genetic component has been demonstrated by the next-generation sequencing (NGS) approach of familiar and sporadic POI cases. As recent evidence suggested an oligogenic architecture for POI, we developed a target NGS panel with 295 genes including known candidates and novel genetic determinants potentially involved in POI pathogenesis. Sixty-four patients with early onset POI (range: 10-25 years) of our cohort have been screened with 90% of target coverage at 50×. Here, we report 48 analyzed patients with at least one genetic variant (75%) in the selected candidate genes. In particular, we found the following: 11/64 patients (17%) with two variants, 9/64 (14%) with three variants, 9/64 (14%) with four variants, 3/64 (5%) with five variants, and 2/64 (3%) with six variants. The most severe phenotypes were associated with either the major number of variations or a worse prediction in pathogenicity of variants. Bioinformatic gene ontology analysis identified the following major pathways likely affected by gene variants: 1) cell cycle, meiosis, and DNA repair; 2) extracellular matrix remodeling; 3) reproduction; 4) cell metabolism; 5) cell proliferation; 6) calcium homeostasis; 7) NOTCH signaling; 8) signal transduction; 9) WNT signaling; 10) cell death; and 11) ubiquitin modifications. Consistently, the identified pathways have been described in other studies dissecting the mechanisms of folliculogenesis in animal models of altered fertility. In conclusion, our results contribute to define POI as an oligogenic disease and suggest novel candidates to be investigated in patients with POI.
    MeSH term(s) Adolescent ; Adult ; Child ; Female ; Genetic Variation ; High-Throughput Nucleotide Sequencing ; Humans ; Primary Ovarian Insufficiency/genetics ; Young Adult
    Language English
    Publishing date 2021-11-04
    Publishing country Switzerland
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2592084-4
    ISSN 1664-2392
    ISSN 1664-2392
    DOI 10.3389/fendo.2021.664645
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article ; Online: H2AFY

    Kragesteen, Bjørt K / Brancati, Francesco / Digilio, Maria Cristina / Mundlos, Stefan / Spielmann, Malte

    Journal of medical genetics

    2019  Volume 56, Issue 4, Page(s) 246–251

    Abstract: Background: Structural variants (SVs) affecting non-coding : Methods: Here, we identify SVs by whole genome sequencing (WGS) and use CRISPR-Cas9 genome editing in transgenic mice to assign pathogenicity to the SVs.: Results: In this study, we used ...

    Abstract Background: Structural variants (SVs) affecting non-coding
    Methods: Here, we identify SVs by whole genome sequencing (WGS) and use CRISPR-Cas9 genome editing in transgenic mice to assign pathogenicity to the SVs.
    Results: In this study, we used WGS in a family with three mildly affected individuals with Liebenberg syndrome and identified the smallest deletion described so far including the first non-coding exon of
    Conclusion: Our data indicate that housekeeping promoters may titrate promiscuous enhancer activity to ensure normal morphogenesis. The deletion of the
    MeSH term(s) Alleles ; Animals ; Brachydactyly/diagnosis ; Brachydactyly/genetics ; Carpal Bones/abnormalities ; Disease Models, Animal ; Elbow Joint/abnormalities ; Epistasis, Genetic ; Fingers/abnormalities ; Gene Expression Regulation ; Gene Targeting ; Hand Deformities, Congenital/diagnosis ; Hand Deformities, Congenital/genetics ; Histones/genetics ; Humans ; Mice ; Mice, Knockout ; Paired Box Transcription Factors/genetics ; Paired Box Transcription Factors/metabolism ; Pedigree ; Promoter Regions, Genetic ; Sequence Deletion ; Synostosis/diagnosis ; Synostosis/genetics ; Transcriptional Activation ; Whole Genome Sequencing ; Wrist Joint/abnormalities
    Chemical Substances Histones ; MACROH2A2 protein, human ; Paired Box Transcription Factors ; homeobox protein PITX1
    Language English
    Publishing date 2019-02-02
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 220881-7
    ISSN 1468-6244 ; 0022-2593
    ISSN (online) 1468-6244
    ISSN 0022-2593
    DOI 10.1136/jmedgenet-2018-105793
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 177: Show issues Location:
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  6. Article ; Online: 2p25.3 microduplications involving MYT1L: further phenotypic characterization through an assessment of 16 new cases and a literature review.

    Bouassida, Malek / Egloff, Matthieu / Levy, Jonathan / Chatron, Nicolas / Bernardini, Laura / Le Guyader, Gwenaël / Tabet, Anne-Claude / Schluth-Bolard, Caroline / Brancati, Francesco / Giuffrida, Maria Grazia / Dard, Rodolphe / Clorennec, Juliette / Coursimault, Juliette / Vialard, François / Hervé, Bérénice

    European journal of human genetics : EJHG

    2023  Volume 31, Issue 8, Page(s) 895–904

    Abstract: Microduplications involving the MYT1L gene have mostly been described in series of patients with isolated schizophrenia. However, few reports have been published, and the phenotype has still not been well characterized. We sought to further characterize ... ...

    Abstract Microduplications involving the MYT1L gene have mostly been described in series of patients with isolated schizophrenia. However, few reports have been published, and the phenotype has still not been well characterized. We sought to further characterize the phenotypic spectrum of this condition by describing the clinical features of patients with a pure 2p25.3 microduplication that includes all or part of MYT1L. We assessed 16 new patients with pure 2p25.3 microduplications recruited through a French national collaboration (n = 15) and the DECIPHER database (n = 1). We also reviewed 27 patients reported in the literature. For each case, we recorded clinical data, the microduplication size, and the inheritance pattern. The clinical features were variable and included developmental and speech delays (33%), autism spectrum disorder (ASD, 23%), mild-to-moderate intellectual disability (ID, 21%), schizophrenia (23%), or behavioral disorders (16%). Eleven patients did not have an obvious neuropsychiatric disorder. The microduplications ranged from 62.4 kb to 3.8 Mb in size and led to duplication of all or part of MYT1L; seven of these duplications were intragenic. The inheritance pattern was available for 18 patients: the microduplication was inherited in 13 cases, and all parents but one had normal phenotype. Our comprehensive review and expansion of the phenotypic spectrum associated with 2p25.3 microduplications involving MYT1L should help clinicians to better assess, counsel and manage affected individuals. MYT1L microduplications are characterized by a spectrum of neuropsychiatric phenotypes with incomplete penetrance and variable expressivity, which are probably due to as-yet unknown genetic and nongenetic modifiers.
    MeSH term(s) Humans ; Autism Spectrum Disorder ; Phenotype ; Intellectual Disability/genetics ; Inheritance Patterns ; Nerve Tissue Proteins/genetics ; Transcription Factors/genetics
    Chemical Substances MYT1L protein, human ; Nerve Tissue Proteins ; Transcription Factors
    Language English
    Publishing date 2023-05-15
    Publishing country England
    Document type Review ; Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1141470-4
    ISSN 1476-5438 ; 1018-4813
    ISSN (online) 1476-5438
    ISSN 1018-4813
    DOI 10.1038/s41431-023-01379-9
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 3589: Show issues Location:
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  7. Article ; Online: Neurodevelopmental attributes of joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type: Update and perspectives.

    Ghibellini, Giulia / Brancati, Francesco / Castori, Marco

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

    2015  Volume 169C, Issue 1, Page(s) 107–116

    Abstract: In the last decade, increasing attention has been devoted to the extra-articular and extra-cutaneous manifestations of joint hypermobility syndrome, also termed Ehlers-Danlos syndrome, hypermobility type (i.e., JHS/EDS-HT). Despite the fact that the ... ...

    Abstract In the last decade, increasing attention has been devoted to the extra-articular and extra-cutaneous manifestations of joint hypermobility syndrome, also termed Ehlers-Danlos syndrome, hypermobility type (i.e., JHS/EDS-HT). Despite the fact that the current diagnostic criteria for both disorders remain focused on joint hypermobility, musculoskeletal pain and skin changes, medical practice and research have started investigating a wide spectrum of visceral, neurological and developmental complications, which represent major burdens for affected individuals. In particular, children with generalized joint hypermobility often present with various neurodevelopmental issues and can be referred for neurological consultation. It is common that investigations in these patients yield negative or inconsistent results, eventually leading to the exclusion of any structural neurological or muscle disorder. In the context of specialized clinics for connective tissue disorders, a clear relationship between generalized joint hypermobility and a characteristic neurodevelopmental profile affecting coordination is emerging. The clinical features of these patients tend to overlap with those of developmental coordination disorder and can be associated with learning and other disabilities. Physical and psychological consequences of these additional difficulties add to the chief manifestations of the pre-existing connective tissue disorder, affecting the well-being and development of children and their families. In this review, particular attention is devoted to the nature of the link between joint hypermobility, coordination difficulties and neurodevelopmental issues in children. Presumed pathogenesis and management issues are explored in order to attract more attention on this association and nurture future clinical research.
    MeSH term(s) Adolescent ; Apraxias/etiology ; Apraxias/physiopathology ; Child ; Child, Preschool ; Ehlers-Danlos Syndrome/complications ; Ehlers-Danlos Syndrome/physiopathology ; Humans ; Joint Instability/complications ; Joint Instability/congenital ; Joint Instability/physiopathology ; Motor Skills Disorders/etiology ; Motor Skills Disorders/physiopathology ; Proprioception/physiology
    Language English
    Publishing date 2015-03
    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.31424
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  8. Article ; Online: Craniosynostosis-microphthalmia syndrome belongs to the spectrum of BCOR-related disorders.

    Cinnirella, Giacomo / Taylor, Rachel L / Coco, Claudio / Piludu, Francesca / Vidiri, Antonello / Sinibaldi, Lorenzo / Kornak, Uwe / Black, Graeme / Brancati, Francesco

    Clinical genetics

    2020  Volume 98, Issue 4, Page(s) 413–415

    Abstract: Craniosynostosis-microphthalmia linked to BCOR haploinsufficiency. ...

    Abstract Craniosynostosis-microphthalmia linked to BCOR haploinsufficiency.
    MeSH term(s) Adolescent ; Child ; Chromosomes, Human, X/genetics ; Craniosynostoses/complications ; Craniosynostoses/genetics ; Craniosynostoses/pathology ; Eye Abnormalities/complications ; Eye Abnormalities/genetics ; Eye Abnormalities/pathology ; Female ; Genes, X-Linked ; Genetic Predisposition to Disease ; Haploinsufficiency/genetics ; Humans ; Microphthalmos/complications ; Microphthalmos/genetics ; Microphthalmos/pathology ; Proto-Oncogene Proteins/genetics ; Repressor Proteins/genetics
    Chemical Substances BCOR protein, human ; Proto-Oncogene Proteins ; Repressor Proteins
    Language English
    Publishing date 2020-08-03
    Publishing country Denmark
    Document type Letter ; Research Support, Non-U.S. Gov't
    ZDB-ID 221209-2
    ISSN 1399-0004 ; 0009-9163
    ISSN (online) 1399-0004
    ISSN 0009-9163
    DOI 10.1111/cge.13808
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 413: Show issues Location:
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  9. Article ; Online: Fundamental role of BMP15 in human ovarian folliculogenesis revealed by null and missense mutations associated with primary ovarian insufficiency.

    Rossetti, Raffaella / Ferrari, Ilaria / Bestetti, Ilaria / Moleri, Silvia / Brancati, Francesco / Petrone, Luisa / Finelli, Palma / Persani, Luca

    Human mutation

    2020  Volume 41, Issue 5, Page(s) 983–997

    Abstract: Bone morphogenetic protein 15 (BMP15) encodes an oocyte factor with a relevant role for folliculogenesis as homodimer or cumulin heterodimer (BMP15-GDF9). Heterozygous BMP15 variants in the precursor or mature peptide had been associated with primary ... ...

    Abstract Bone morphogenetic protein 15 (BMP15) encodes an oocyte factor with a relevant role for folliculogenesis as homodimer or cumulin heterodimer (BMP15-GDF9). Heterozygous BMP15 variants in the precursor or mature peptide had been associated with primary ovarian insufficiency (POI), but the underlying mechanism remains elusive and a double dose of BMP15 was suggested to be required for adequate ovarian reserve. We uncovered two homozygous BMP15 null variants found in two girls with POI and primary amenorrhea. Both heterozygous mothers reported physiological menopause. We then performed western blot, immunofluorescence, and reporter assays to investigate how previously reported missense variants, p.Y235C and p.R329C, located in the precursor or mature domains of BMP15, may affect protein function. The p.R329C variant demonstrates an impaired colocalization with growth/differentiation factor 9 (GDF9) at confocal images and diminished activation of the SMAD pathways at western blot and reporter assays in COV434 follicular cell line. In conclusion, BMP15 null mutations cause POI only in the homozygous state, thus discarding the possibility that isolated BMP15 haploinsufficiency can cause evident ovarian defects. Alternatively, heterozygous BMP15 missense variants may affect ovarian function by interfering with cumulin activity. Our data definitely support the fundamental role of BMP15 in human ovarian folliculogenesis.
    MeSH term(s) Adolescent ; Alleles ; Bone Morphogenetic Protein 15/genetics ; Cell Line ; Comparative Genomic Hybridization ; Consanguinity ; DNA Mutational Analysis ; Female ; Genetic Association Studies/methods ; Genetic Predisposition to Disease ; Genotype ; Homozygote ; Humans ; Mutation, Missense ; Ovarian Follicle/growth & development ; Ovarian Follicle/metabolism ; Pedigree ; Phenotype ; Primary Ovarian Insufficiency/diagnosis ; Primary Ovarian Insufficiency/genetics ; Primary Ovarian Insufficiency/metabolism ; Sequence Deletion
    Chemical Substances BMP15 protein, human ; Bone Morphogenetic Protein 15
    Language English
    Publishing date 2020-02-06
    Publishing country United States
    Document type Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1126646-6
    ISSN 1098-1004 ; 1059-7794
    ISSN (online) 1098-1004
    ISSN 1059-7794
    DOI 10.1002/humu.23988
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  10. Article ; Online: HDAC9

    Hirsch, Naama / Dahan, Idit / D'haene, Eva / Avni, Matan / Vergult, Sarah / Vidal-García, Marta / Magini, Pamela / Graziano, Claudio / Severi, Giulia / Bonora, Elena / Nardone, Anna Maria / Brancati, Francesco / Fernández-Jaén, Alberto / Rory, Olson J / Hallgrímsson, Benedikt / Birnbaum, Ramon Y

    Genome research

    2022  Volume 32, Issue 7, Page(s) 1242–1253

    Abstract: Structural variants (SVs) can affect protein-coding sequences as well as gene regulatory elements. However, SVs disrupting protein-coding sequences that also function ... ...

    Abstract Structural variants (SVs) can affect protein-coding sequences as well as gene regulatory elements. However, SVs disrupting protein-coding sequences that also function as
    MeSH term(s) Animals ; Craniosynostoses/genetics ; Gene Expression Regulation ; Histone Deacetylases/genetics ; Humans ; Mice ; Nuclear Proteins/genetics ; Phenotype ; Polydactyly/genetics ; Repressor Proteins/genetics ; Twist-Related Protein 1/genetics
    Chemical Substances Nuclear Proteins ; Repressor Proteins ; TWIST1 protein, human ; Twist-Related Protein 1 ; HDAC9 protein, human (EC 3.5.1.98) ; Histone Deacetylases (EC 3.5.1.98)
    Language English
    Publishing date 2022-06-16
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1284872-4
    ISSN 1549-5469 ; 1088-9051 ; 1054-9803
    ISSN (online) 1549-5469
    ISSN 1088-9051 ; 1054-9803
    DOI 10.1101/gr.276196.121
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.MG 8: Show issues

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