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  1. AU="Orsetta Zuffardi"
  2. AU="Brunner, David"
  3. AU="Monserrat, Nuria"
  4. AU="Dufresne, Philippe J"
  5. AU="Dickey, Erin M"
  6. AU="Alessia Nava"
  7. AU="Yamoah, Peter"
  8. AU="Solit, David"
  9. AU="Raymond, Benjamin"
  10. AU="Maddi, Abhiram"
  11. AU="Rodríguez, Johanna G"
  12. AU="Frans, J"
  13. AU="Elisa Palazzari"

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  1. Artikel ; Online: Non-Invasive Detection of a De Novo Frameshift Variant of STAG2 in a Female Fetus

    Aldesia Provenzano / Andrea La Barbera / Francesco Lai / Andrea Perra / Antonio Farina / Ettore Cariati / Orsetta Zuffardi / Sabrina Giglio

    Journal of Clinical Medicine, Vol 11, Iss 14, p

    Escape Genes Influence the Manifestation of X-Linked Diseases in Females

    2022  Band 4182

    Abstract: Background: We report on a 20-week-old female fetus with a diaphragmatic hernia and other malformations, all of which appeared after the first-trimester ultrasound. Methods and Results: Whole trio exome sequencing (WES) on cell-free fetal DNA (cff-DNA) ... ...

    Abstract Background: We report on a 20-week-old female fetus with a diaphragmatic hernia and other malformations, all of which appeared after the first-trimester ultrasound. Methods and Results: Whole trio exome sequencing (WES) on cell-free fetal DNA (cff-DNA) revealed a de novo frameshift variant of the X-linked STAG2 gene. Loss-of-function (LoF) STAG2 variants cause either holoprosencephaly (HPE) or Mullegama–Klein–Martinez syndrome (MKMS), are de novo, and only affect females, indicating male lethality. In contrast, missense mutations associate with milder forms of MKMS and follow the classic X-linked recessive inheritance transmitted from healthy mothers to male offspring. STAG2 has been reported to escape X-inactivation, suggesting that disease onset in LoF females is dependent on inadequate dosing for at least some of the transcripts, as is the case with a part of the autosomal dominant diseases. Missense STAG2 variants produce a quantity of transcripts, which, while resulting in a different protein, leads to disease only in hemizygous males. Similar inheritance patterns are described for other escapee genes. Conclusions: This study confirms the advantage of WES on cff-DNA and emphasizes the role of the type of the variant in X-linked disorders.
    Schlagwörter X-linked diseases ; non-invasive whole exome sequencing ; fetal cell-free DNA ; escapee genes ; X-inactivation ; Medicine ; R
    Thema/Rubrik (Code) 610
    Sprache Englisch
    Erscheinungsdatum 2022-07-01T00:00:00Z
    Verlag MDPI AG
    Dokumenttyp Artikel ; Online
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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  2. Artikel ; Online: Prenatal Noninvasive Trio-WES in a Case of Pregnancy-Related Liver Disorder

    Aldesia Provenzano / Antonio Farina / Anna Seidenari / Francesco Azzaroli / Carla Serra / Anna Della Gatta / Orsetta Zuffardi / Sabrina Rita Giglio

    Diagnostics, Vol 11, Iss 1904, p

    2021  Band 1904

    Abstract: Liver disease in pregnancy may present as an acute condition related to the gestational period, characterized by pruritus, jaundice, and abnormal liver function. The disease may be misdiagnosed with other liver diseases, some of which may have ... ...

    Abstract Liver disease in pregnancy may present as an acute condition related to the gestational period, characterized by pruritus, jaundice, and abnormal liver function. The disease may be misdiagnosed with other liver diseases, some of which may have consequences for fetal health. It is therefore advisable to implement rapid diagnostic strategies to provide information for the management of pregnancy in these conditions. We report the case of a healthy woman with a twin pregnancy from homologous in vitro fertilization (IVF), who in the third trimester presented jaundice and malaise. Biochemical investigations and liver hyperechogenicity raised the suspicion of acute fatty liver disease of pregnancy (AFLP). Non-invasive prenatal whole-exome sequencing (WES) in the trio identified the Phe305Ile heterozygous variant in the ATP8B1 gene. Considering the twin pregnancy, the percentage of the variant versus the wild allele was of 31%, suggesting heterozygosity present in the mother alone. This analysis showed that the mother was affected by benign recurrent intrahepatic cholestasis of pregnancy (ICP1: # 147480) and indicated the opportunity to anticipate childbirth to avoid worsening of the mother’s health. WES after the birth of the twins confirmed the molecular data.
    Schlagwörter fetal cell free DNA ; exome sequencing ; non-invasive WES ; liver disorder ; Medicine (General) ; R5-920
    Thema/Rubrik (Code) 610
    Sprache Englisch
    Erscheinungsdatum 2021-10-01T00:00:00Z
    Verlag MDPI AG
    Dokumenttyp Artikel ; Online
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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  3. Artikel ; Online: A donor splice site mutation in CISD2 generates multiple truncated, non-functional isoforms in Wolfram syndrome type 2 patients

    Monica Cattaneo / Lucia La Sala / Maurizio Rondinelli / Edoardo Errichiello / Orsetta Zuffardi / Annibale Alessandro Puca / Stefano Genovese / Antonio Ceriello

    BMC Medical Genetics, Vol 18, Iss 1, Pp 1-

    2017  Band 8

    Abstract: Abstract Background Mutations in the gene that encodes CDGSH iron sulfur domain 2 (CISD2) are causative of Wolfram syndrome type 2 (WFS2), a rare autosomal recessive neurodegenerative disorder mainly characterized by diabetes mellitus, optic atrophy, ... ...

    Abstract Abstract Background Mutations in the gene that encodes CDGSH iron sulfur domain 2 (CISD2) are causative of Wolfram syndrome type 2 (WFS2), a rare autosomal recessive neurodegenerative disorder mainly characterized by diabetes mellitus, optic atrophy, peptic ulcer bleeding and defective platelet aggregation. Four mutations in the CISD2 gene have been reported. Among these mutations, the homozygous c.103 + 1G > A substitution was identified in the donor splice site of intron 1 in two Italian sisters and was predicted to cause a exon 1 to be skipped. Methods Here, we employed molecular assays to characterize the c.103 + 1G > A mutation using the patient’s peripheral blood mononuclear cells (PBMCs). 5′-RACE coupled with RT-PCR were used to analyse the effect of the c.103 + 1G > A mutation on mRNA splicing. Western blot analysis was used to analyse the consequences of the CISD2 mutation on the encoded protein. Results We demonstrated that the c.103 + 1G > A mutation functionally impaired mRNA splicing, producing multiple splice variants characterized by the whole or partial absence of exon 1, which introduced amino acid changes and a premature stop. The affected mRNAs resulted in either predicted targets for nonsense mRNA decay (NMD) or non-functional isoforms. Conclusions We concluded that the c.103 + 1G > A mutation resulted in the loss of functional CISD2 protein in the two Italian WFS2 patients.
    Schlagwörter CISD2 ; Wolfram syndrome type 2 ; mRNA splicing ; Non functional isoforms ; Nonsense-mediated mRNA decay ; Internal medicine ; RC31-1245 ; Genetics ; QH426-470
    Thema/Rubrik (Code) 572
    Sprache Englisch
    Erscheinungsdatum 2017-12-01T00:00:00Z
    Verlag BMC
    Dokumenttyp Artikel ; Online
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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  4. Artikel ; Online: A newborn with ambiguous genitalia and a complex X;Y rearrangement

    Mohammadreza Dehghani / Elena Rossi / Annalisa Vetro / Gianni Russo / Zahra Hashemian / Orsetta Zuffardi

    Iranian Journal of Reproductive Medicine, Vol 12, Iss 5, Pp 351-

    2014  Band 356

    Abstract: Background: In most mammals, sex is determined at the beginning of gestation by the constitution of the sex chromosomes, XY in males and XX in females. Case: Here we report an interesting case characterized by ambiguous genitalia and ovotestis in a ... ...

    Abstract Background: In most mammals, sex is determined at the beginning of gestation by the constitution of the sex chromosomes, XY in males and XX in females. Case: Here we report an interesting case characterized by ambiguous genitalia and ovotestis in a newborn carrying an apparently female karyotype (46 XX). Array Comparative Genomic Hybridization (Array-CGH) revealed an unbalanced rearrangement resulting in the deletion of the distal Xp and the duplication of the proximal Xp contiguous region with presence of the Y chromosome from Ypter to Yq11. Fluorescent in situ hybridization (FISH) showed that this portion of the Y was translocated to the tip of the abnormal X and that the duplicated portion of chromosome X was inverted. Altogether, the abnormal chromosome was a dicentric one with the centromere of the Y chromosome apparently inactivated. Conclusion: The presence within the translocated Y chromosome of the SRY gene explains the devolopment of testes although it is not clear the reason for the genitalia ambiguity
    Schlagwörter Gynecology and obstetrics ; RG1-991 ; Medicine ; R
    Sprache Englisch
    Erscheinungsdatum 2014-05-01T00:00:00Z
    Verlag Shahid Sadoghi University of Medical Sciences of Yazd
    Dokumenttyp Artikel ; Online
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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  5. Artikel ; Online: A Data Fusion Approach to Enhance Association Study in Epilepsy.

    Simone Marini / Ivan Limongelli / Ettore Rizzo / Alberto Malovini / Edoardo Errichiello / Annalisa Vetro / Tan Da / Orsetta Zuffardi / Riccardo Bellazzi

    PLoS ONE, Vol 11, Iss 12, p e

    2016  Band 0164940

    Abstract: Among the scientific challenges posed by complex diseases with a strong genetic component, two stand out. One is unveiling the role of rare and common genetic variants; the other is the design of classification models to improve clinical diagnosis and ... ...

    Abstract Among the scientific challenges posed by complex diseases with a strong genetic component, two stand out. One is unveiling the role of rare and common genetic variants; the other is the design of classification models to improve clinical diagnosis and predictive models for prognosis and personalized therapies. In this paper, we present a data fusion framework merging gene, domain, pathway and protein-protein interaction data related to a next generation sequencing epilepsy gene panel. Our method allows integrating association information from multiple genomic sources and aims at highlighting the set of common and rare variants that are capable to trigger the occurrence of a complex disease. When compared to other approaches, our method shows better performances in classifying patients affected by epilepsy.
    Schlagwörter Medicine ; R ; Science ; Q
    Sprache Englisch
    Erscheinungsdatum 2016-01-01T00:00:00Z
    Verlag Public Library of Science (PLoS)
    Dokumenttyp Artikel ; Online
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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  6. Artikel ; Online: Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes

    Robert Schöpflin / Uirá Souto Melo / Hossein Moeinzadeh / David Heller / Verena Laupert / Jakob Hertzberg / Manuel Holtgrewe / Nico Alavi / Marius-Konstantin Klever / Julius Jungnitsch / Emel Comak / Seval Türkmen / Denise Horn / Yannis Duffourd / Laurence Faivre / Patrick Callier / Damien Sanlaville / Orsetta Zuffardi / Romano Tenconi /
    Nehir Edibe Kurtas / Sabrina Giglio / Bettina Prager / Anna Latos-Bielenska / Ida Vogel / Merete Bugge / Niels Tommerup / Malte Spielmann / Antonio Vitobello / Vera M. Kalscheuer / Martin Vingron / Stefan Mundlos

    Nature Communications, Vol 13, Iss 1, Pp 1-

    2022  Band 15

    Abstract: Here the authors characterize structural variations (SVs) in a cohort of individuals with complex genomic rearrangements, identifying breakpoints by employing short- and long-read genome sequencing and investigate their impact on gene expression and the ... ...

    Abstract Here the authors characterize structural variations (SVs) in a cohort of individuals with complex genomic rearrangements, identifying breakpoints by employing short- and long-read genome sequencing and investigate their impact on gene expression and the three-dimensional chromatin architecture. They find breakpoints are enriched in inactive regions and can result in chromatin domain fusions.
    Schlagwörter Science ; Q
    Sprache Englisch
    Erscheinungsdatum 2022-10-01T00:00:00Z
    Verlag Nature Portfolio
    Dokumenttyp Artikel ; Online
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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  7. Artikel ; Online: Guideline recommendations for diagnosis and clinical management of Ring14 syndrome—first report of an ad hoc task force

    Berardo Rinaldi / Alessandro Vaisfeld / Sergio Amarri / Chiara Baldo / Giuseppe Gobbi / Pamela Magini / Erto Melli / Giovanni Neri / Francesca Novara / Tommaso Pippucci / Romana Rizzi / Annarosa Soresina / Laura Zampini / Orsetta Zuffardi / Marco Crimi

    Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-

    2017  Band 11

    Abstract: Abstract Background Ring chromosome 14 syndrome is a rare chromosomal disorder characterized by early onset refractory epilepsy, intellectual disability, autism spectrum disorder and a number of diverse health issues. Results The aim of this work is to ... ...

    Abstract Abstract Background Ring chromosome 14 syndrome is a rare chromosomal disorder characterized by early onset refractory epilepsy, intellectual disability, autism spectrum disorder and a number of diverse health issues. Results The aim of this work is to provide recommendations for the diagnosis and management of persons affected by ring chromosome 14 syndrome based on evidence from literature and experience of health professionals from different medical backgrounds who have followed for several years subjects affected by ring chromosome 14 syndrome. The literature search was performed in 2016. Original papers, meta-analyses, reviews, books and guidelines were reviewed and final recommendations were reached by consensus. Conclusion Conventional cytogenetics is the primary tool to identify a ring chromosome. Children with a terminal deletion of chromosome 14q ascertained by molecular karyotyping (CGH/SNP array) should be tested secondarily by conventional cytogenetics for the presence of a ring chromosome. Early diagnosis should be pursued in order to provide medical and social assistance by a multidisciplinary team. Clinical investigations, including neurophysiology for epilepsy, should be performed at the diagnosis and within the follow-up. Following the diagnosis, patients and relatives/caregivers should receive regular care for health and social issues. Epilepsy should be treated from the onset with anticonvulsive therapy. Likewise, feeding difficulties should be treated according to need. Nutritional assessment is recommended for all patients and nutritional support for malnourishment can include gastrostomy feeding in selected cases. Presence of autistic traits should be carefully evaluated. Many patients with ring chromosome 14 syndrome are nonverbal and thus maintaining their ability to communicate is always essential; every effort should be made to preserve their autonomy.
    Schlagwörter Ring14 syndrome ; Recommendations ; Caregivers ; Best practices ; Medicine ; R
    Thema/Rubrik (Code) 610
    Sprache Englisch
    Erscheinungsdatum 2017-04-01T00:00:00Z
    Verlag BMC
    Dokumenttyp Artikel ; Online
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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  8. Artikel ; Online: Sox9 duplications are a relevant cause of Sry-negative XX sex reversal dogs.

    Elena Rossi / Orietta Radi / Lisa De Lorenzi / Annalisa Vetro / Debora Groppetti / Enrico Bigliardi / Gaia Cecilia Luvoni / Ada Rota / Giovanna Camerino / Orsetta Zuffardi / Pietro Parma

    PLoS ONE, Vol 9, Iss 7, p e

    2014  Band 101244

    Abstract: Sexual development in mammals is based on a complicated and delicate network of genes and hormones that have to collaborate in a precise manner. The dark side of this pathway is represented by pathological conditions, wherein sexual development does not ... ...

    Abstract Sexual development in mammals is based on a complicated and delicate network of genes and hormones that have to collaborate in a precise manner. The dark side of this pathway is represented by pathological conditions, wherein sexual development does not occur properly either in the XX and the XY background. Among them a conundrum is represented by the XX individuals with at least a partial testis differentiation even in absence of SRY. This particular condition is present in various mammals including the dog. Seven dogs characterized by XX karyotype, absence of SRY gene, and testicular tissue development were analysed by Array-CGH. In two cases the array-CGH analysis detected an interstitial heterozygous duplication of chromosome 9. The duplication contained the SOX9 coding region. In this work we provide for the first time a causative mutation for the XXSR condition in the dog. Moreover this report supports the idea that the dog represents a good animal model for the study of XXSR condition caused by abnormalities in the SOX9 locus.
    Schlagwörter Medicine ; R ; Science ; Q
    Thema/Rubrik (Code) 630
    Sprache Englisch
    Erscheinungsdatum 2014-01-01T00:00:00Z
    Verlag Public Library of Science (PLoS)
    Dokumenttyp Artikel ; Online
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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  9. Artikel ; Online: Idiopathic Central Precocious Puberty Associated with 11 Mb De Novo Distal Deletion of the Chromosome 9 Short Arm

    Orsetta Zuffardi / Jole Messa / Baran Bayindir / Giovanni Pieri / Lorenzo Andrea Bassi / Giulia Rossetti / Alexandra Madè Laura Losa / Erika Della Mina / Mariangela Cisternino / Roberto Ciccone

    Case Reports in Genetics, Vol

    2013  Band 2013

    Schlagwörter Genetics ; QH426-470 ; Biology (General) ; QH301-705.5 ; Science ; Q ; DOAJ:Genetics ; DOAJ:Biology ; DOAJ:Biology and Life Sciences
    Sprache Englisch
    Erscheinungsdatum 2013-01-01T00:00:00Z
    Verlag Hindawi Publishing Corporation
    Dokumenttyp Artikel ; Online
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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  10. Artikel ; Online: Highly conserved non-coding sequences and the 18q critical region for short stature

    Flavio Rizzolio / Silvia Bione / Cinzia Sala / Carla Tribioli / Roberto Ciccone / Orsetta Zuffardi / Natascia di Iorgi / Mohamad Maghnie / Daniela Toniolo

    PLoS ONE, Vol 3, Iss 1, p e

    a common mechanism of disease?

    2008  Band 1460

    Abstract: Isolated growth hormone deficiency (IGHD) and multiple pituitary hormone deficiency (MPHD) are heterogeneous disorders with several different etiologies and they are responsible for most cases of short stature. Mutations in different genes have been ... ...

    Abstract Isolated growth hormone deficiency (IGHD) and multiple pituitary hormone deficiency (MPHD) are heterogeneous disorders with several different etiologies and they are responsible for most cases of short stature. Mutations in different genes have been identified but still many patients did not present mutations in any of the known genes. Chromosomal rearrangements may also be involved in short stature and, among others, deletions of 18q23 defined a critical region for the disorder. No gene was yet identified.We now report a balanced translocation X;18 in a patient presenting a breakpoint in 18q23 that was surprisingly mapped about 500 Kb distal from the short stature critical region. It separated from the flanking SALL3 gene a region enriched in highly conserved non-coding elements (HCNE) that appeared to be regulatory sequences, active as enhancers or silencers during embryonic development.We propose that, during pituitary development, the 18q rearrangement may alter expression of 18q genes or of X chromosome genes that are translocated next to the HCNEs. Alteration of expression of developmentally regulated genes by translocation of HCNEs may represent a common mechanism for disorders associated to isolated chromosomal rearrangements.
    Schlagwörter Medicine ; R ; Science ; Q
    Thema/Rubrik (Code) 570
    Sprache Englisch
    Erscheinungsdatum 2008-01-01T00:00:00Z
    Verlag Public Library of Science (PLoS)
    Dokumenttyp Artikel ; Online
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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