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  1. Article ; Online: Dental stem cells

    Ashwin Dalal

    Indian Journal of Dental Research, Vol 27, Iss 2, Pp 113-

    Hope or hype?

    2016  Volume 114

    Keywords Dentistry ; RK1-715 ; Medicine ; R
    Language English
    Publishing date 2016-01-01T00:00:00Z
    Publisher Medknow Publications
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  2. Article ; Online: Identification of a Novel Variant

    Mamata, M / Padma, G / Pragna Laxmi, T / Saroja, K / Ashwin, Dalal / Suman, Jain

    Hemoglobin

    2024  Volume 48, Issue 1, Page(s) 1–3

    Abstract: A 21-year-old patient presented with a previous medical history of pallor, mild icterus, increased fatigue, low hemoglobin, and abnormal hemoglobin variant analysis with more than 70 transfusions. He was referred for genetic analysis to identify the ... ...

    Abstract A 21-year-old patient presented with a previous medical history of pallor, mild icterus, increased fatigue, low hemoglobin, and abnormal hemoglobin variant analysis with more than 70 transfusions. He was referred for genetic analysis to identify the pathogenic variations in the β-globin gene. Sanger's sequencing of the proband and his family revealed the presence of a novel frame shift variant
    MeSH term(s) Humans ; Male ; Young Adult ; beta-Globins/genetics ; beta-Globins/metabolism ; beta-Thalassemia/diagnosis ; beta-Thalassemia/genetics ; Hemoglobin E/genetics ; Hemoglobins, Abnormal/genetics ; Heterozygote ; Mutation ; Phenotype
    Chemical Substances beta-Globins ; Hemoglobin E (9034-61-1) ; Hemoglobins, Abnormal
    Language English
    Publishing date 2024-01-23
    Publishing country England
    Document type Case Reports ; Journal Article
    ZDB-ID 750615-6
    ISSN 1532-432X ; 0363-0269
    ISSN (online) 1532-432X
    ISSN 0363-0269
    DOI 10.1080/03630269.2023.2279609
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 1345: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)

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  3. Article ; Online: Genotype first approach & familial segregation analysis help in the elucidation of disease-causing variant for fucosidosis

    Amrita Bhattacherjee / Elyska Desa / Kaisar Ahmad Lone / Arjita Jaiswal / Shweta Tyagi / Ashwin Dalal

    Indian Journal of Medical Research, Vol 157, Iss 4, Pp 363-

    2023  Volume 366

    Keywords Medicine ; R
    Language English
    Publishing date 2023-01-01T00:00:00Z
    Publisher Wolters Kluwer Medknow Publications
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  4. Article ; Online: Identification of three novel mutations in SLCO2A1 in Asian-Indians with Pachydermoperiostosis

    Divya Pasumarthi / Priya Ranganath / Kausik Mandal / N Dhanya Lakshmi / Ashwin Dalal / Shagun Aggarwal

    Indian Journal of Medical Research, Vol 158, Iss 3, Pp 319-

    2023  Volume 323

    Keywords Medicine ; R
    Language English
    Publishing date 2023-01-01T00:00:00Z
    Publisher Wolters Kluwer Medknow Publications
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  5. Article ; Online: Title-molecular diagnostics of dystrophinopathies in Sri Lanka towards phenotype predictions

    Nalaka Wijekoon / Lakmal Gonawala / Pyara Ratnayake / Roshan Liyanage / Dhammika Amaratunga / Yetrib Hathout / Harry W. M. Steinbusch / Ashwin Dalal / Eric P. Hoffman / K. Ranil D. de Silva

    European Journal of Medical Research, Vol 29, Iss 1, Pp 1-

    an insight from a South Asian resource limited setting

    2024  Volume 16

    Abstract: Abstract Background The phenotype of Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) patients is determined by the type of DMD gene variation, its location, effect on reading frame, and its size. The primary objective of this ... ...

    Abstract Abstract Background The phenotype of Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) patients is determined by the type of DMD gene variation, its location, effect on reading frame, and its size. The primary objective of this investigation was to determine the frequency and distribution of DMD gene variants (deletions/duplications) in Sri Lanka through the utilization of a combined approach involving multiplex polymerase chain reaction (mPCR) followed by Multiplex Ligation Dependent Probe Amplification (MLPA) and compare to the international literature. The current consensus is that MLPA is a labor efficient yet expensive technique for identifying deletions and duplications in the DMD gene. Methodology Genetic analysis was performed in a cohort of 236 clinically suspected pediatric and adult myopathy patients in Sri Lanka, using mPCR and MLPA. A comparative analysis was conducted between our findings and literature data. Results In the entire patient cohort (n = 236), mPCR solely was able to identify deletions in the DMD gene in 131/236 patients (DMD-120, BMD-11). In the same cohort, MLPA confirmed deletions in 149/236 patients [DMD-138, BMD -11]. These findings suggest that mPCR has a detection rate of 95% (131/138) among all patients who received a diagnosis. The distal and proximal deletion hotspots for DMD were exons 45–55 and 6–15. Exon 45–60 identified as a novel in-frame variation hotspot. Exon 45–59 was a hotspot for BMD deletions. Comparisons with the international literature show significant variations observed in deletion and duplication frequencies in DMD gene across different populations. Conclusion DMD gene deletions and duplications are concentrated in exons 45–55 and 2–20 respectively, which match global variation hotspots. Disparities in deletion and duplication frequencies were observed when comparing our data to other Asian and Western populations. Identified a 95% deletion detection rate for mPCR, making it a viable initial molecular diagnostic approach for low-resource ...
    Keywords Mutations ; Dystrophin ; South Asia ; Muscular Dystrophies ; Medicine ; R
    Subject code 570
    Language English
    Publishing date 2024-01-01T00:00:00Z
    Publisher BMC
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  6. Article ; Online: Genetic heterogeneity and human diseases

    Shagun Agarwal / Ashwin Dalal

    Indian Journal of Medical Research, Vol 140, Iss 3, Pp 446-

    2014  Volume 447

    Keywords Medicine ; R
    Language English
    Publishing date 2014-01-01T00:00:00Z
    Publisher Wolters Kluwer Medknow Publications
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  7. Article: Whole exome sequencing identifies a novel frameshift mutation in GPC3 gene in a patient with overgrowth syndrome

    Das Bhowmik, Aneek / Ashwin Dalal

    Gene. 2015 Nov. 10, v. 572

    2015  

    Abstract: Overgrowth syndromes are a heterogeneous group of diseases characterized by focal or generalized overgrowth. Many of the syndromes have overlapping clinical features and it is difficult to diagnose the condition based on clinical features alone. In the ... ...

    Abstract Overgrowth syndromes are a heterogeneous group of diseases characterized by focal or generalized overgrowth. Many of the syndromes have overlapping clinical features and it is difficult to diagnose the condition based on clinical features alone. In the present study we report on a patient with overgrowth syndrome where extensive investigation did not reveal the cause of disease. Finally exome sequencing revealed a novel hemizygous single base pair deletion in exon 8 of GPC3 gene (chrX:132670203delA) resulting in a frameshift and creating a new stop codon at 62 amino acids downstream to codon 564 (c.1692delT; p.Leu565SerfsTer63) of the protein. The mutation was confirmed by Sanger sequencing. The mother was found to be heterozygous for the mutation. This variation is not reported in the 1000 Genomes, Exome Variant Server (EVS), Exome Aggregation Consortium (ExAC) and dbSNP databases and the region is conserved across primates. Exome sequencing was helpful in establishing diagnosis of Simpson–Golabi–Behmel syndrome type 1 (SGBS1) in a patient with unknown overgrowth syndrome.
    Keywords amino acids ; databases ; exons ; frameshift mutation ; genes ; heterozygosity ; patients ; Primates ; sequence analysis ; stop codon
    Language English
    Dates of publication 2015-1110
    Size p. 303-306.
    Publishing place Elsevier B.V.
    Document type Article
    ZDB-ID 391792-7
    ISSN 1879-0038 ; 0378-1119
    ISSN (online) 1879-0038
    ISSN 0378-1119
    DOI 10.1016/j.gene.2015.08.053
    Database NAL-Catalogue (AGRICOLA)

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    In stock of ZB MED Bonn / Germany

    Z 79/715: Show issues

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  8. Article ; Online: Exome sequencing & homozygosity mapping for identification of genetic aetiology for spastic ataxia in a consanguineous family

    Ashwin Dalal / Aneek Das Bhowmik / Divya Agarwal / Shubha R Phadke

    Indian Journal of Medical Research, Vol 142, Iss 2, Pp 220-

    2015  Volume 224

    Keywords Medicine ; R
    Language English
    Publishing date 2015-01-01T00:00:00Z
    Publisher Wolters Kluwer Medknow Publications
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  9. Article ; Online: Molecular Cytogenetic Characterization of a Non-Robertsonian Dicentric Chromosome 14;19 Identified in a Girl with Short Stature and Amenorrhea

    Usha R. Dutta / Vijaya Kumar Pidugu / Ashwin Dalal

    Case Reports in Genetics, Vol

    2012  Volume 2012

    Keywords Genetics ; QH426-470 ; Biology (General) ; QH301-705.5 ; Science ; Q ; DOAJ:Genetics ; DOAJ:Biology ; DOAJ:Biology and Life Sciences
    Language English
    Publishing date 2012-01-01T00:00:00Z
    Publisher Hindawi Publishing Corporation
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  10. Article ; Online: Sialidosis type II

    Veronica Arora / Nitika Setia / Ashwin Dalal / Maria Celestina Vanaja / Deepti Gupta / Tinku Razdan / Shubha R. Phadke / Renu Saxena / Anshu Rohtagi / Ishwar C. Verma / Ratna Dua Puri

    Molecular Genetics and Metabolism Reports, Vol 22, Iss , Pp - (2020)

    Expansion of phenotypic spectrum and identification of a common mutation in seven patients

    2020  

    Abstract: Sialidosis, an autosomal recessive disorder, is characterized by progressive lysosomal storage of sialylated glycopeptides and oligosaccharides. It occurs as a result of biallelic mutations in the NEU1 gene. Sialidosis is traditionally classified as a ... ...

    Abstract Sialidosis, an autosomal recessive disorder, is characterized by progressive lysosomal storage of sialylated glycopeptides and oligosaccharides. It occurs as a result of biallelic mutations in the NEU1 gene. Sialidosis is traditionally classified as a milder, late-onset type I and a severe early-onset type II disease. The presence of a cherry-red spot is a well-established ophthalmological clue to the disorder. We present a clinical-radiological report of seven unrelated patients with molecularly confirmed sialidosis type II. To the best of our knowledge, This is the largest reported series of patients with Sialidosis type II. A novel, previously unreported ophthalmic phenotype of bulls-eye maculopathy, is described. All seven phenotypically heterogeneous patients had the same pathogenic variant (c.679G > A; p.Gly227Arg) at a homozygous level in the NEU1 gene. We propose that this is a common mutation in north Indians for this rare disorder. We also observed an overlap of symptoms and a continuum of phenotypes in type I and II Sialidosis. Keywords: Common mutation, Bull's eye maculopathy, Sialidosis type II, NEU1, Polypheny, North India
    Keywords Medicine (General) ; R5-920 ; Biology (General) ; QH301-705.5
    Subject code 610
    Language English
    Publishing date 2020-03-01T00:00:00Z
    Publisher Elsevier
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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