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  1. Article ; Online: Goldilocks principle and recessive disease.

    Fabre, Alexandre / Guerry, Paul

    European journal of human genetics : EJHG

    2023  Volume 32, Issue 2, Page(s) 143–145

    Language English
    Publishing date 2023-09-22
    Publishing country England
    Document type Journal Article
    ZDB-ID 1141470-4
    ISSN 1476-5438 ; 1018-4813
    ISSN (online) 1476-5438
    ISSN 1018-4813
    DOI 10.1038/s41431-023-01458-x
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 3589: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (2.OG)
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  2. Article: No preferential mode of inheritance for highly constrained genes.

    Fabre, Alexandre / Mancini, Julien

    Intractable & rare diseases research

    2022  Volume 11, Issue 1, Page(s) 25–28

    Abstract: Genetic constraint metrics such as the gnomAD probability of being loss-of-function (LoF) intolerant (pLI) are used to prioritize candidate genes but the mode of inheritance of highly constrained genes has never specifically been studied. We compared 605 ...

    Abstract Genetic constraint metrics such as the gnomAD probability of being loss-of-function (LoF) intolerant (pLI) are used to prioritize candidate genes but the mode of inheritance of highly constrained genes has never specifically been studied. We compared 605 genes with a pLI of 1 (pLI1 group) with a random sample of 635 genes from gnomAD (the random group) in terms of genetic constraint metrics, associations with Mendelian disease, modes of inheritance, and two intragenic constraint scores: the percentage of constraint coding regions (CCR) in the 99
    Language English
    Publishing date 2022-03-02
    Publishing country Japan
    Document type Journal Article
    ZDB-ID 2672570-8
    ISSN 2186-361X ; 2186-3644
    ISSN (online) 2186-361X
    ISSN 2186-3644
    DOI 10.5582/irdr.2022.01011
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article: When LUCA met gnomAD: genetic constraints on universal genes in humans.

    Fabre, Alexandre / Mancini, Julien

    Intractable & rare diseases research

    2022  Volume 11, Issue 3, Page(s) 149–152

    Abstract: LUCA, the last universal common ancestor, is the hypothetical most recent common ancestor of the three domains of life which share the universal genes (UG). It seems interesting to evaluate whether the UG phylogeny has had an impact on current Human gene ...

    Abstract LUCA, the last universal common ancestor, is the hypothetical most recent common ancestor of the three domains of life which share the universal genes (UG). It seems interesting to evaluate whether the UG phylogeny has had an impact on current Human gene constraints. A list of human homologs of UG was retrieved from the eggNOG database. We analyzed this LUCA gene (LG) group, and a random sample of 500 genes from the gnomAD database (RG group). Gene constraint metrics were retrieved from gnomAD and associations with Mendelian diseases and modes of inheritance were retrieved from OMIM. The LG group consisted of 277 genes and the RG group, 492 (8 genes were in LG group). 38.6% of the genes in the LG group and 25.2% of the genes in the RG group were associated with a Mendelian disease (
    Language English
    Publishing date 2022-09-01
    Publishing country Japan
    Document type Journal Article
    ZDB-ID 2672570-8
    ISSN 2186-361X ; 2186-3644
    ISSN (online) 2186-361X
    ISSN 2186-3644
    DOI 10.5582/irdr.2022.01063
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article: Smooth muscle motility disorder phenotypes: A systematic review of cases associated with seven pathogenic genes (

    Fournier, Ninon / Fabre, Alexandre

    Intractable & rare diseases research

    2022  Volume 11, Issue 3, Page(s) 113–119

    Abstract: Smooth muscle disorders affecting both the intestine and the bladder have been known for a decade. However, the recent discovery of genes associated with these dysfunctions has led to the description of several clinical phenotypes. We performed a ... ...

    Abstract Smooth muscle disorders affecting both the intestine and the bladder have been known for a decade. However, the recent discovery of genes associated with these dysfunctions has led to the description of several clinical phenotypes. We performed a systematic review of all published cases involving seven genes with pathogenic variants,
    Language English
    Publishing date 2022-09-01
    Publishing country Japan
    Document type Journal Article ; Review
    ZDB-ID 2672570-8
    ISSN 2186-361X ; 2186-3644
    ISSN (online) 2186-361X
    ISSN 2186-3644
    DOI 10.5582/irdr.2022.01060
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article ; Online: Il faut sauver les contrats de travail !

    Fabre, Alexandre

    ISSN: 1951-0152 ; EISSN: 1760-7566 ; Revue de Droit du Travail ; https://halshs.archives-ouvertes.fr/halshs-02546633 ; Revue de Droit du Travail, Dalloz, 2020, pp.246 ; https://www.dalloz.fr/documentation/Document?id=REVTRAV/CHRON/2020/0051

    2020  

    Abstract: International ... ...

    Abstract International audience
    Keywords Contrat de Travail ; Covid-19 ; Crise sanitaire ; Survie des contrats de travail ; Dispositifs mis en place ; [SHS.DROIT]Humanities and Social Sciences/Law ; covid19
    Language French
    Publishing date 2020-04-27
    Publisher HAL CCSD
    Publishing country fr
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  6. Article ; Online: Il faut sauver les contrats de travail !

    Fabre, Alexandre

    ISSN: 1951-0152 ; EISSN: 1760-7566 ; Revue de Droit du Travail ; https://halshs.archives-ouvertes.fr/halshs-02546633 ; Revue de Droit du Travail, Dalloz, 2020, pp.246 ; https://www.dalloz.fr/documentation/Document?id=REVTRAV/CHRON/2020/0051

    2020  

    Abstract: International ... ...

    Abstract International audience
    Keywords Contrat de Travail ; Covid-19 ; Crise sanitaire ; Survie des contrats de travail ; Dispositifs mis en place ; [SHS.DROIT]Humanities and Social Sciences/Law ; covid19
    Language French
    Publishing date 2020-04-27
    Publisher HAL CCSD
    Publishing country fr
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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    Inter-library loan at ZB MED

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  7. Article ; Online: Il faut sauver les contrats de travail !

    Fabre, Alexandre

    ISSN: 1951-0152 ; EISSN: 1760-7566 ; Revue de Droit du Travail ; https://halshs.archives-ouvertes.fr/halshs-02546633 ; Revue de Droit du Travail, Dalloz, 2020, pp.246 ; https://www.dalloz.fr/documentation/Document?id=REVTRAV/CHRON/2020/0051

    2020  

    Abstract: International ... ...

    Abstract International audience
    Keywords Contrat de Travail ; Covid-19 ; Crise sanitaire ; Survie des contrats de travail ; Dispositifs mis en place ; [SHS.DROIT]Humanities and Social Sciences/Law ; covid19
    Language French
    Publishing date 2020-04-27
    Publisher HAL CCSD
    Publishing country fr
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

    Full text online

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    Inter-library loan at ZB MED

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  8. Article ; Online: Same Quality but Not the Same Impact: Citations Related to Publications About Celiac Disease in JPGN and AJG.

    Fabre, Alexandre

    Journal of pediatric gastroenterology and nutrition

    2016  Volume 62, Issue 4, Page(s) e38

    MeSH term(s) Bibliometrics ; Celiac Disease ; Humans ; Periodicals as Topic ; Publishing ; Research
    Language English
    Publishing date 2016-04
    Publishing country United States
    Document type Comment ; Letter
    ZDB-ID 603201-1
    ISSN 1536-4801 ; 0277-2116
    ISSN (online) 1536-4801
    ISSN 0277-2116
    DOI 10.1097/MPG.0000000000001061
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 1728: 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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  9. Article ; Online: Oral findings in children with congenital cholestatic disease: A systematic review of case reports and case series.

    Reynal, Florence / Camoin, Ariane / Tardieu, Corinne / Fabre, Alexandre / Blanchet, Isabelle

    Archives de pediatrie : organe officiel de la Societe francaise de pediatrie

    2023  Volume 30, Issue 6, Page(s) 427–437

    Abstract: Multiple causes of congenital neonatal cholestasis have been identified, and are classified as extrahepatic or intrahepatic. Biliary atresia (BA), Alagille syndrome (AGS), and progressive familial intrahepatic cholestasis (PFIC) are the most common of ... ...

    Abstract Multiple causes of congenital neonatal cholestasis have been identified, and are classified as extrahepatic or intrahepatic. Biliary atresia (BA), Alagille syndrome (AGS), and progressive familial intrahepatic cholestasis (PFIC) are the most common of these. Many factors associated with cholestatic diseases are known to degrade the oral health of these children. What are the oral manifestations associated with these diseases in the pediatric population? The aim of this article was to evaluate the impact of congenital cholestasis on oral health in pediatric patients. A systematic review of case reports and case series was carried out in PubMed, the Cochrane Library, and the Web of Science to identify relevant articles in French and English published up to April 2022. The review included 19 studies, 16 case reports, and three case series. Only studies dealing with BA and AGS were found. These studies showed an impact on jaw morphology, dental structure, and periodontal health. The facial dysmorphism observed in AGS was specific. Exposure to high levels of bilirubin during the period of dental calcification led to particular coloration. Regarding periodontal status, gingival inflammation was common in these patients, probably resulting from the use of certain treatment-associated drugs and poor oral hygiene. Cohort studies are needed to confirm the classification of these children as being at high individual risk of caries. Many major oral manifestations are found in children with AGS and BA, confirming the need to include a dentist in the care team of patients with congenital cholestatic disease as early as possible. It appears necessary to carry out individual prospective studies of each phenotype in order to confirm and better describe the oral impact of these cholestatic diseases and provide adequate medical care.
    MeSH term(s) Child ; Humans ; Infant, Newborn ; Biliary Atresia/complications ; Biliary Atresia/diagnosis ; Prospective Studies ; Cholestasis/complications ; Cholestasis/diagnosis ; Cholestasis, Intrahepatic/diagnosis ; Cholestasis, Intrahepatic/complications ; Cholestasis, Intrahepatic/congenital ; Alagille Syndrome/complications ; Alagille Syndrome/diagnosis
    Language English
    Publishing date 2023-06-30
    Publishing country France
    Document type Systematic Review ; Case Reports ; Journal Article
    ZDB-ID 1181947-9
    ISSN 1769-664X ; 0929-693X
    ISSN (online) 1769-664X
    ISSN 0929-693X
    DOI 10.1016/j.arcped.2023.06.003
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 3942: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
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    Jg. 1995 - 2021: Lesesall (2.OG)
    ab Jg. 2022: Lesesaal (EG)

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  10. Article ; Online: Proposed mechanism for the selection of lactase persistence in childhood.

    Fabre, Alexandre / Fabre, Anne / Bon, Céline / Guerry, Paul / Segurel, Laure

    BioEssays : news and reviews in molecular, cellular and developmental biology

    2023  Volume 45, Issue 7, Page(s) e2200243

    Abstract: Lactase persistence/persistent (LP), the ability to express the lactase enzyme in adults, is one of the most strongly selected phenotypes in humans. It is encoded by at least five genetic variants that have rapidly become widespread in various human ... ...

    Abstract Lactase persistence/persistent (LP), the ability to express the lactase enzyme in adults, is one of the most strongly selected phenotypes in humans. It is encoded by at least five genetic variants that have rapidly become widespread in various human populations. The underlying selective mechanism is not clear however, because dairy products in general are well tolerated in adults, even by lactase non-persistence/persistent (LNP) individuals. Cultural adaptations to milk consumption, notably fermentation and transformation, which can provide most of the energy (protein, fat) to both LP and LNP individuals without any associated cost seem to have been common in ancient societies. Here, we propose that selection for LP occurred through increased glucose/galactose (energy) from fresh milk intake in early childhood, a crucial period for growth. At the age of weaning indeed, lactase activity has already begun to decline in LNP individuals so the gain in energy from fresh milk by LP children represents a major fitness increase.
    MeSH term(s) Adult ; Child ; Child, Preschool ; Humans ; Lactase/genetics ; Lactose Intolerance/genetics ; Milk
    Chemical Substances Lactase (EC 3.2.1.108)
    Language English
    Publishing date 2023-04-19
    Publishing country United States
    Document type Journal Article
    ZDB-ID 50140-2
    ISSN 1521-1878 ; 0265-9247
    ISSN (online) 1521-1878
    ISSN 0265-9247
    DOI 10.1002/bies.202200243
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 2024: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
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    ab Jg. 2022: Lesesaal (EG)

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