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  1. AU="Kanwal Gujral"
  2. AU="Christian Young"
  3. AU=Takeuchi Kaoru
  4. AU="Wiślicki, W."
  5. AU="Veiga, Susana"
  6. AU="Reynolds, Matthew W."
  7. AU="Oates, Stephen B"
  8. AU=Okubo K
  9. AU="Behnood, Sanaz"

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  1. Artikel ; Online: Perinatal transmission of SARS-CoV-2 antibodies and the risk of infection

    Dinesh Kaul / Kanwal Gujral

    Current Medicine Research and Practice, Vol 11, Iss 4, Pp 192-

    2021  Band 194

    Schlagwörter Medicine ; R
    Sprache Englisch
    Erscheinungsdatum 2021-01-01T00:00:00Z
    Verlag Wolters Kluwer Medknow Publications
    Dokumenttyp Artikel ; Online
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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  2. Artikel ; Online: Dr. S. K Bhandari

    Kanwal Gujral / Kamal Buckshee / Chandra Kanta Bhalla

    Current Medicine Research and Practice, Vol 11, Iss 3, Pp 161-

    2021  Band 162

    Schlagwörter Medicine ; R
    Sprache Englisch
    Erscheinungsdatum 2021-01-01T00:00:00Z
    Verlag Wolters Kluwer Medknow Publications
    Dokumenttyp Artikel ; Online
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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  3. Artikel ; Online: Umbilical cord artery atresia

    Sakshi Nayar / Nidish Sharma / Seema Rao / Chandra Mansukhani / Kanwal Gujral

    Current Medicine Research and Practice, Vol 11, Iss 2, Pp 97-

    2021  Band 99

    Abstract: Umbilical cord has two arteries and one vein. The absence of one artery is referred to as single umbilical artery which could be because of primary agenesis of umbilical artery or atrophy or secondary atresia of the previously normally developed ... ...

    Abstract Umbilical cord has two arteries and one vein. The absence of one artery is referred to as single umbilical artery which could be because of primary agenesis of umbilical artery or atrophy or secondary atresia of the previously normally developed umbilical artery. The former is associated with foetal malformations and later can lead to haemodynamic changes in foetal circulation resulting in impaired foetal growth and its consequences. Histopathology of the umbilical cord is the gold standard for confirmation of the diagnosis.
    Schlagwörter single umbilical artery ; umbilical artery atresia ; umbilical cord malformations ; Medicine ; R
    Sprache Englisch
    Erscheinungsdatum 2021-01-01T00:00:00Z
    Verlag Wolters Kluwer Medknow Publications
    Dokumenttyp Artikel ; Online
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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  4. Artikel ; Online: NGS-based expanded carrier screening for genetic disorders in North Indian population reveals unexpected results – a pilot study

    Kanika Singh / Sunita Bijarnia-Mahay / V. L. Ramprasad / Ratna Dua Puri / Sandhya Nair / Sheetal Sharda / Renu Saxena / Sudha Kohli / Samarth Kulshreshtha / Indrani Ganguli / Kanwal Gujral / Ishwar C. Verma

    BMC Medical Genetics, Vol 21, Iss 1, Pp 1-

    2020  Band 15

    Abstract: Abstract Background To determine the carrier frequency and pathogenic variants of common genetic disorders in the north Indian population by using next generation sequencing (NGS). Methods After pre-test counselling, 200 unrelated individuals (including ... ...

    Abstract Abstract Background To determine the carrier frequency and pathogenic variants of common genetic disorders in the north Indian population by using next generation sequencing (NGS). Methods After pre-test counselling, 200 unrelated individuals (including 88 couples) were screened for pathogenic variants in 88 genes by NGS technology. The variants were classified as per American College of Medical Genetics criteria. Pathogenic and likely pathogenic variants were subjected to thorough literature-based curation in addition to the regular filters. Variants of unknown significance were not reported. Individuals were counselled explaining the implications of the results, and cascade screening was advised when necessary. Results Of the 200 participants, 52 (26%) were found to be carrier of one or more disorders. Twelve individuals were identified to be carriers for congenital deafness, giving a carrier frequency of one in 17 for one of the four genes tested (SLC26A4, GJB2, TMPRSS3 and TMC1 in decreasing order). Nine individuals were observed to be carriers for cystic fibrosis, with a frequency of one in 22. Three individuals were detected to be carriers for Pompe disease (frequency one in 67). None of the 88 couples screened were found to be carriers for the same disorder. The pathogenic variants observed in many disorders (such as deafness, cystic fibrosis, Pompe disease, Canavan disease, primary hyperoxaluria, junctional epidermolysis bullosa, galactosemia, medium chain acyl CoA deficiency etc.) were different from those commonly observed in the West. Conclusion A higher carrier frequency for genetic deafness, cystic fibrosis and Pompe disease was unexpected, and contrary to the generally held view about their prevalence in Asian Indians. In spite of the small sample size, this study would suggest that population-based carrier screening panels for India would differ from those in the West, and need to be selected with due care. Testing should comprise the study of all the coding exons with its boundaries in the genes ...
    Schlagwörter Carrier screening ; Cystic fibrosis ; Hearing loss ; Pompe disease ; Asian Indians ; Internal medicine ; RC31-1245 ; Genetics ; QH426-470
    Thema/Rubrik (Code) 630
    Sprache Englisch
    Erscheinungsdatum 2020-11-01T00:00:00Z
    Verlag BMC
    Dokumenttyp Artikel ; Online
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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