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  1. AU="Papoulidis, Ioannis"
  2. AU="Migaud, Henri"
  3. AU="Kelion, Andrew"
  4. AU="Harry Jabs"
  5. AU="Patel, Yatindra"
  6. AU="Aziza Jamal-Allial"
  7. AU="Montiel, Olga Martha"
  8. AU="Pérez Latorre, Leire"
  9. AU=Vardhan Seshu
  10. AU="OJ Baker"
  11. AU="Dalton, R C"
  12. AU="Mrozikiewicz-Rakowska, Beata"
  13. AU="Penkert, Judith"
  14. AU="Mak, Susanna"
  15. AU="Karkoszka, Henryk"
  16. AU="Burton, Jeffrey H"
  17. AU="Frederique Pitel"
  18. AU="Pierce, Aimee"
  19. AU="Luque-Ballesteros, Laura"
  20. AU="Dondi, Francesco"
  21. AU="McLachlan, Alex"
  22. AU="Krizova, Ludmila"
  23. AU="Balog, Attila"
  24. AU="Faerber, Karin"
  25. AU="Prettner, Klaus"
  26. AU="Ambrožová, I."
  27. AU="William, Doreen"
  28. AU="Gutiérrez-Sánchez, A M"
  29. AU="Bohan, Dana"
  30. AU="Spracklen, D."
  31. AU="Lobo, Brian C"
  32. AU=Zhuang Jianjian AU=Zhuang Jianjian
  33. AU=Pathanki Adithya M
  34. AU="Armando Vilchis-Ordoñez"
  35. AU="Zhongfu Lu"
  36. AU="Lo, Hong-Yip"
  37. AU="Ziman Xiong"
  38. AU="Oakes, Allison H"
  39. AU="Ma, Shaotong"
  40. AU="Zang, Lili"
  41. AU="Adams Brian D"
  42. AU="Maria Papaioannou"
  43. AU="Kollia, Georgia"
  44. AU="Auxiette, Catherine"
  45. AU="Guzmán, Luis"
  46. AU="Alipour, Elnaz"
  47. AU="Queiroz, Dayanna Joyce Marques"
  48. AU="Ramamurthy, Santosh"
  49. AU="Xueying Huang"
  50. AU="Cromwell, Howard C"
  51. AU="Spence, John C H"
  52. AU="Chapinal, Libertad"
  53. AU=Rohaim Mohammed A AU=Rohaim Mohammed A
  54. AU=Hempel Cornelius

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  1. Artikel ; Online: Cell‑free fetal DNA at 11‑13 weeks of gestation is not altered in complicated pregnancies.

    Koukou, Zoi / Panteris, Eleftherios / Manolakos, Emmanouel / Papadopoulos, Aristeidis / Papoulidis, Ioannis / Relakis, Konstantinos / Sifakis, Stavros

    Biomedical reports

    2024  Band 20, Heft 4, Seite(n) 69

    Abstract: Non-invasive maternal cell-free fetal DNA (cffDNA) is a promising biomarker for screening common genetic syndromes. Alterations in the expression levels of cffDNA in the maternal circulation have been demonstrated in abnormal pregnancies. However, the ... ...

    Abstract Non-invasive maternal cell-free fetal DNA (cffDNA) is a promising biomarker for screening common genetic syndromes. Alterations in the expression levels of cffDNA in the maternal circulation have been demonstrated in abnormal pregnancies. However, the results are conflicting. The present study aimed to investigate whether cffDNA levels are associated with pregnancy complications. The study group comprised pregnant women who presented with pregnancy complications, such as preterm birth, gestational hypertension, intrauterine growth retardation, gestational diabetes, polyhydramnios, oligohydramnios, vaginal bleeding and placental abruption. The control group comprised women who had a normal pregnancy course. Blood samples were obtained from 500 pregnant women between 11-13 weeks of gestation. cffDNA was amplified, sequenced and analyzed using the next-generation aneuploidy test of a Panorama-Natera kit. Nuchal translucency (NT) thickness as well as pregnancy associated plasma protein-A (PAPP-A) and β-human chorionic gonadotropin (β-hCG) levels were also assessed. Statistical analysis was performed in 494 out of the 500 samples collected with SPSS v.26 using non-parametric methods. The parameters were normalized by the multiples of median (MoM) method. The expression levels of PAPP-A, β-hCG, and the NT mean MoM values were significantly different between the study and control groups (P=0.005, P<0.001 and P=0.007, respectively). However, the expression levels of cffDNA and the mean MoM values were not significantly different between these two groups (P=0.687). The findings of the present study support the conclusion that cffDNA expression is not altered in a series of pregnancy complications. The prognostic value of cffDNA in predicting adverse pregnancy outcomes requires further investigation.
    Sprache Englisch
    Erscheinungsdatum 2024-03-04
    Erscheinungsland England
    Dokumenttyp Journal Article
    ZDB-ID 2763624-0
    ISSN 2049-9442 ; 2049-9434
    ISSN (online) 2049-9442
    ISSN 2049-9434
    DOI 10.3892/br.2024.1757
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  2. Artikel: Genital Abnormalities and Growth Retardation as Early Signs of Dilated Cardiomyopathy with Ataxia Syndrome.

    Papadopoulou-Legbelou, Kyriaki / Ntoumpara, Maria / Kavga, Maria / Kotanidou, Eleni P / Papoulidis, Ioannis / Galli-Tsinopoulou, Assimina / Fotoulaki, Maria

    Case reports in genetics

    2024  Band 2024, Seite(n) 8860889

    Abstract: Dilated cardiomyopathy with ataxia syndrome is a rare mitochondrial disease caused by autosomal recessive mutations in ... ...

    Abstract Dilated cardiomyopathy with ataxia syndrome is a rare mitochondrial disease caused by autosomal recessive mutations in the
    Sprache Englisch
    Erscheinungsdatum 2024-01-20
    Erscheinungsland United States
    Dokumenttyp Case Reports
    ZDB-ID 2664417-4
    ISSN 2090-6552 ; 2090-6544
    ISSN (online) 2090-6552
    ISSN 2090-6544
    DOI 10.1155/2024/8860889
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  3. Artikel: Prenatal Identification of a Missense Mutation of the L1CAM Gene Associated With Hydrocephalus Using Next-Generation Sequencing.

    Sotiriou, Sotirios / Samara, Athina A / Anastasakis, Eleftherios / Zikopoulos, Athanasios / Papoulidis, Ioannis / Manolakos, Emmanouil / Pavlidou, Efterpi / Skentou, Chara

    Cureus

    2024  Band 16, Heft 2, Seite(n) e55142

    Abstract: We present the case of a 35-year-old pregnant woman who visited our department for a routine ultrasonography screening scan for fetus anatomy during the 22nd week of gestation. Our report revealed a male fetus with marked hydrocephalus and severe ... ...

    Abstract We present the case of a 35-year-old pregnant woman who visited our department for a routine ultrasonography screening scan for fetus anatomy during the 22nd week of gestation. Our report revealed a male fetus with marked hydrocephalus and severe intrauterine growth retardation. After extensive counseling, the couple decided to proceed with an invasive diagnosis via amniocentesis. The cytogenetic analysis showed findings related to clinical history and ultrasound findings related to the presence of a nucleotide change in c.578T>C with an amino acid change in p.Leu198Pro of the
    Sprache Englisch
    Erscheinungsdatum 2024-02-28
    Erscheinungsland United States
    Dokumenttyp Case Reports
    ZDB-ID 2747273-5
    ISSN 2168-8184
    ISSN 2168-8184
    DOI 10.7759/cureus.55142
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  4. Artikel ; Online: An asymptomatic male individual carrying a 5.72 Mb

    Keramida, Christina / Papoulidis, Ioannis / Pappa, Efterpi / Liehr, Thomas / Kalmantis, Konstantinos / Gerede, Angeliki / Pavlidou, Efterpi / Petersen, Michael Bjorn / Manolakos, Emmanouil

    Experimental and therapeutic medicine

    2024  Band 27, Heft 6, Seite(n) 241

    Abstract: Numerous rearrangements in the 8p23 chromosomal region have been reported; included in these rearrangements are isolated deletions in this area. Such deletions are associated with a wide range of phenotypic characteristics, including motor impairment, ... ...

    Abstract Numerous rearrangements in the 8p23 chromosomal region have been reported; included in these rearrangements are isolated deletions in this area. Such deletions are associated with a wide range of phenotypic characteristics, including motor impairment, epilepsy, intellectual disability, cardiac defects and seizures. The present study describes the case of a 30-year-old asymptomatic man that carries a
    Sprache Englisch
    Erscheinungsdatum 2024-04-03
    Erscheinungsland Greece
    Dokumenttyp Case Reports
    ZDB-ID 2683844-8
    ISSN 1792-1015 ; 1792-0981
    ISSN (online) 1792-1015
    ISSN 1792-0981
    DOI 10.3892/etm.2024.12529
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  5. Artikel ; Online: Invasive Prenatal Diagnostic Testing for Aneuploidies in Singleton Pregnancies: A Comparative Review of Major Guidelines.

    Giovannopoulou, Eirini / Tsakiridis, Ioannis / Mamopoulos, Apostolos / Kalogiannidis, Ioannis / Papoulidis, Ioannis / Athanasiadis, Apostolos / Dagklis, Themistoklis

    Medicina (Kaunas, Lithuania)

    2022  Band 58, Heft 10

    Abstract: Sophisticated screening protocols for genetic abnormalities constitute an important component of current prenatal care, aiming to identify high-risk pregnancies and offer appropriate counseling to parents regarding their options. Definite prenatal ... ...

    Abstract Sophisticated screening protocols for genetic abnormalities constitute an important component of current prenatal care, aiming to identify high-risk pregnancies and offer appropriate counseling to parents regarding their options. Definite prenatal diagnosis is only possible by invasive prenatal diagnostic testing (IPDT), mainly including amniocentesis and chorionic villous sampling (CVS). The aim of this comparative review was to summarize and compare the existing recommendations on IPDT from the most influential guidelines. All the reviewed guidelines highlight that IPDT is indicated based on a positive screening test rather than maternal age alone. Other indications arise from medical history and sonography, with significant variations identified between the guidelines. The earlier time for amniocentesis is unequivocally set at ≥15 gestational weeks, whereas for CVS, the earlier limit varies from ≥10 to ≥11 weeks. Certain technical aspects and the overall approach demonstrate significant differences. Periprocedural management regarding Rhesus alloimmunization, virologic status and use of anesthesia or antibiotics are either inconsistent or insufficiently addressed. The synthesis of an evidence-based algorithm for IPDT is of crucial importance to healthcare professionals implicated in prenatal care to avoid unnecessary interventions without compromising optimal prenatal care.
    Mesh-Begriff(e) Pregnancy ; Humans ; Female ; Chorionic Villi Sampling ; Amniocentesis ; Aneuploidy ; Prenatal Diagnosis ; Maternal Age
    Sprache Englisch
    Erscheinungsdatum 2022-10-17
    Erscheinungsland Switzerland
    Dokumenttyp Journal Article ; Review
    ZDB-ID 2188113-3
    ISSN 1648-9144 ; 1010-660X
    ISSN (online) 1648-9144
    ISSN 1010-660X
    DOI 10.3390/medicina58101472
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  6. Artikel ; Online: Charcot-Marie-Tooth Disease Type 2-Like Phenotype due to a Novel Variant in the Stalk Domain of

    Liouta, Eleni / Poulidou, Vasiliki / Frontistis, Antonios / Moschou, Maria / Fidani, Styliani / Papoulidis, Ioannis / Spilioti, Martha / Kimiskidis, Vasilios K / Arnaoutoglou, Marianthi

    Neurology India

    2023  Band 71, Heft 3, Seite(n) 577–579

    Mesh-Begriff(e) Humans ; Charcot-Marie-Tooth Disease/genetics ; Phenotype ; Mutation/genetics ; Kinesins/genetics
    Chemische Substanzen KIF5A protein, human ; Kinesins (EC 3.6.4.4)
    Sprache Englisch
    Erscheinungsdatum 2023-06-16
    Erscheinungsland India
    Dokumenttyp Letter
    ZDB-ID 415522-1
    ISSN 1998-4022 ; 0028-3886
    ISSN (online) 1998-4022
    ISSN 0028-3886
    DOI 10.4103/0028-3886.378650
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 698: Hefte anzeigen Standort:
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  7. Artikel ; Online: The Effect of Resolution Level and Targeted Design in the Diagnostic Performance of Prenatal Chromosomal Microarray Analysis.

    Papageorgiou, Elena / Athanasiadis, Apostolos / Fidani, Stiliani / Papoulidis, Ioannis / Manolakos, Emmanouil / Siomou, Elissavet / Chatzakis, Christos / Sotiriadis, Alexandros

    Fetal diagnosis and therapy

    2023  Band 50, Heft 6, Seite(n) 397–405

    Abstract: Introduction: This study was performed to assess the optimal resolution for prenatal testing by array comparative genomic hybridization (aCGH), aiming to balance between maximum diagnostic yield and minimal detection of variants of uncertain ... ...

    Abstract Introduction: This study was performed to assess the optimal resolution for prenatal testing by array comparative genomic hybridization (aCGH), aiming to balance between maximum diagnostic yield and minimal detection of variants of uncertain significance (VOUS).
    Methods: This was a prospective study using data of 2,336 fetuses that underwent invasive prenatal diagnosis, and the samples were analyzed by aCGH. In total, six different aCGH platforms were studied; four different resolutions (0.18 Mb, 0.5 Mb, 1 Mb, and 2 Mb) and two platform designs (whole-genome [WG] and targeted). The results of these designs were compared based on their diagnostic yield and VOUS rate. The performance of the different designs was further analyzed according to indication for invasive testing.
    Results: The diagnostic yield of copy number variants increased with increasing level of analysis. The detection rates of clinically significant chromosomal abnormalities were almost the same across our targeted array designs; 7.2% with 0.18 Mb backbone/0.05 Mb versus 7.1% with 0.5 Mb backbone/0.05 Mb (p >0.05). However, a significant difference in the rate of VOUS was observed; 9.4% with 0.18 Mb backbone/0.05 Mb versus 6% with 0.5 Mb backbone/0.05 Mb (p <0.001). After analyzing the results across different indications for testing, we found that the application of non-targeted platform designs and lower levels of resolution analysis (such as 1 Mb WG or 0.5 MbL/1 MbG WG) would offer similar diagnostic yield in most cases with major congenital anomalies, with lower VOUS rates. However, the sample size for many indication groups was too small to extract robust associations.
    Conclusion: It appears that the targeted array platform with 0.5 Mb backbone resolution and 0.05 Mb on targeted gene-rich regions is optimal for routine chromosomal microarray analysis use in prenatal diagnosis. It may be beneficial to individualize the minimum resolution in specific referral indications as the indications for invasive prenatal testing may be quite heterogeneous.
    Mesh-Begriff(e) Pregnancy ; Female ; Humans ; Comparative Genomic Hybridization/methods ; Prospective Studies ; Prenatal Diagnosis/methods ; Chromosome Aberrations ; Microarray Analysis ; DNA Copy Number Variations
    Sprache Englisch
    Erscheinungsdatum 2023-08-07
    Erscheinungsland Switzerland
    Dokumenttyp Journal Article
    ZDB-ID 1066460-9
    ISSN 1421-9964 ; 1015-3837
    ISSN (online) 1421-9964
    ISSN 1015-3837
    DOI 10.1159/000533137
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  8. Artikel: Split Hand Foot Malformation Syndrome: A Novel Heterozygous FGFR1 Mutation Detected by Next Generation Sequencing.

    Papasozomenou, Panayiota / Papoulidis, Ioannis / Mikos, Themistoklis / Zafrakas, Menelaos

    Current genomics

    2019  Band 20, Heft 3, Seite(n) 226–230

    Abstract: Background: Split-hand/foot malformation syndrome is a rare, clinically and genetically het-erogeneous group of limb malformations characterized by absence/hypoplasia and/or median cleft of hands and/or feet. It may occur as an isolated abnormality or ... ...

    Abstract Background: Split-hand/foot malformation syndrome is a rare, clinically and genetically het-erogeneous group of limb malformations characterized by absence/hypoplasia and/or median cleft of hands and/or feet. It may occur as an isolated abnormality or it may be associated with a genetic syn-drome.
    Case report: In the present case, isolated split-hand/split-foot malformation was diagnosed by prenatal ultrasound at 24 weeks in a male singleton fetus, with deep median cleft of the right hand, syndactyly and hypoplasia of phalanges in both hands, and oligodactyly of the right foot. During consultation, the father of the fetus revealed that he also had an isolated right foot dysplasia. The parents chose elective termination and autopsy confirmed prenatal ultrasound findings. Genetic testing of the aborted fetus with QF-PCR analysis for common aneuploidies and array comparative genomic hybridization (aCGH) showed a male genomic pattern, without aneuploidies or chromosomal imbalances. Further investigation with next generation sequencing of 49 clinically relevant genes revealed a novel heterozygous FGFR1 mutation c.787_789del (p.Ala263del) in the fetus; the father was heterozygous to the same mutation.
    Conclusion: A novel heterozygous FGFR1 mutation causing split-hand/foot malformation syndrome is reported. Accurate genetic diagnosis allowed detailed counseling to be provided to the couple, including the underlying cause, recurrence risks, and detailed management plan with preimplantation genetic diag-nosis for future pregnancies.
    Sprache Englisch
    Erscheinungsdatum 2019-05-06
    Erscheinungsland United Arab Emirates
    Dokumenttyp Case Reports
    ZDB-ID 2033677-9
    ISSN 1875-5488 ; 1389-2029
    ISSN (online) 1875-5488
    ISSN 1389-2029
    DOI 10.2174/1389202920666190530092856
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  9. Artikel: A novel familial mutation associated with Treacher Collins syndrome: A case report.

    Papageorgiou, Elena / Papoulidis, Ioannis / Zavlanos, Apostolos / Papanikolaou, Evaggelos / Manolakos, Emmanouil / Fidani, Stiliani

    Biomedical reports

    2020  Band 12, Heft 5, Seite(n) 285–289

    Abstract: Treacher Collins syndrome (TCS) is a type of mandibulofacial dysostosis with incomplete penetrance and high intra- and interfamilial clinical heterogeneity, and it is associated with mutations of treacle ribosome biogenesis factor 1 (TCOF1), and RNA ... ...

    Abstract Treacher Collins syndrome (TCS) is a type of mandibulofacial dysostosis with incomplete penetrance and high intra- and interfamilial clinical heterogeneity, and it is associated with mutations of treacle ribosome biogenesis factor 1 (TCOF1), and RNA polymerase I and III subunit (POLR1)C and POLR1D genes. In the present case report, a patient with TCS with auricle dysplasia and hearing loss accompanied with intellectual disability is described. Sequence analysis was performed on blood samples from the patient and his father via oligonucleotide-based target capture, followed by next-generation sequencing. Alignment and variant calls were generated using the Burrows-Wheeler Aligner and Genome Analysis Toolkit, followed by bioinformatics analysis of the detected variants. A novel heterozygous mutation, c.911C>T (p.Ser304Leu), was detected in the TCOF1 gene, which was inherited from the father. The father of the patient only suffered from hearing loss. The present report is the first to identify an association between phenotypic variability and TCOF1 gene mutations and thus contributes to our understanding of the association between the genotype and phenotype in patients with TCS and offers clinically relevant information for diagnosis of the syndrome.
    Sprache Englisch
    Erscheinungsdatum 2020-02-28
    Erscheinungsland England
    Dokumenttyp Journal Article
    ZDB-ID 2763624-0
    ISSN 2049-9442 ; 2049-9434
    ISSN (online) 2049-9442
    ISSN 2049-9434
    DOI 10.3892/br.2020.1284
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  10. Artikel ; Online: A novel heterozygous mutation in the SLC5A2 gene causing severe glycosuria, mild failure to thrive, and subclinical hypoglycemia.

    Papadimitriou, Dimitrios T / Manolakos, Emmanouil / Dermitzaki, Eleni / Filiousi, Fotini / Papoulidis, Ioannis / Zoupanos, Georges / Provenzano, Aldesia / Mastorakos, George

    Journal of diabetes

    2021  Band 13, Heft 8, Seite(n) 688–692

    Abstract: Highlights A novel heterozygous mutation in the SLC5A2 gene in a 2-year-old girl with severe asymptomatic glycosuria, mild failure to thrive, and subclinical hypoglycemia: Continuous glucose monitoring identified 14% hypoglycemic excursions (< 70 mg/dl), ...

    Abstract Highlights A novel heterozygous mutation in the SLC5A2 gene in a 2-year-old girl with severe asymptomatic glycosuria, mild failure to thrive, and subclinical hypoglycemia: Continuous glucose monitoring identified 14% hypoglycemic excursions (< 70 mg/dl), reduced at 1% with 1 g/Kg uncooked cornstarch at bed-time milk and eliminated (0%) adjusting the dose at 1.5 g/Kg, as shown by Flash technology.
    Mesh-Begriff(e) Child, Preschool ; Failure to Thrive/etiology ; Failure to Thrive/genetics ; Female ; Glycated Hemoglobin A/analysis ; Glycosuria/etiology ; Glycosuria/genetics ; Heterozygote ; Humans ; Hypoglycemia/etiology ; Hypoglycemia/genetics ; Sodium-Glucose Transporter 2/genetics
    Chemische Substanzen Glycated Hemoglobin A ; SLC5A2 protein, human ; Sodium-Glucose Transporter 2 ; hemoglobin A1c protein, human
    Sprache Englisch
    Erscheinungsdatum 2021-04-24
    Erscheinungsland Australia
    Dokumenttyp Case Reports
    ZDB-ID 2503337-2
    ISSN 1753-0407 ; 1753-0393
    ISSN (online) 1753-0407
    ISSN 1753-0393
    DOI 10.1111/1753-0407.13183
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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