Cette recherche s'applique uniquement aux ressources en bibliothèque.
63 résultats
Trier par:
Ajouter à la liste:
Étendre à toutes les références (sans texte intégral)
    • Plusieurs versions

    Cornelia de Lange Syndrome and the link between chromosomal function, DNA repair and developmental gene regulation

    Strachan, Tom
    Current Opinion in Genetics & Development, 2005, Vol.15(3), pp.258-264 [Revue évaluée par les pairs]

    • Plusieurs versions

    Human molecular genetics

    Strachan, Tom
    • Plusieurs versions

    Human embryo use in developmental research

    Burn, John, Strachan, Tom
    Nature Genetics, 9/1995, Vol.11(1), pp.3-6 [Revue évaluée par les pairs]

    • Plusieurs versions

    Neural crest cell‐specific inactivation of Nipbl or Mau2 during mouse development results in a late onset of craniofacial defects

    Smith, Terence Gordon, Laval, Steve, Chen, Fangli, Rock, Matthew James, Strachan, Tom, Peters, Heiko
    genesis, July 2014, Vol.52(7), pp.687-694 [Revue évaluée par les pairs]

    • Livre
    Sélectionner

    Molekulare Humangenetik

    Strachan, Tom
    Read, Andrew P, Seidler, Lothar
    Heidelberg : Elsevier/Spektrum Akademischer Verl.
    2005
    Recherche de la disponibilité
    Plus…
    Chargement
    Erreur de chargement
    Titre: Molekulare Humangenetik / Tom Strachan, Andrew P. Read ; aus dem Englischen übers. von Lothar Seidler
    Auteur: Strachan, Tom
    Contributeur: Read, Andrew P; Seidler, Lothar
    Edition: 3. Aufl..
    Editeur: Heidelberg : Elsevier/Spektrum Akademischer Verl.
    Date: 2005
    Collation: XX, 800 S. : Ill. ; 28 cm
    Sujet RERO: Biologie moléculaire - Génétique - Homme
    Classification: LC QH431
    Identifiant: 3827414938 (ISBN)
    No RERO: R003883823
    Permalien:
    http://data.rero.ch/01-R003883823/html?view=FR_V1

    • Plusieurs versions

    Molecular Basis of Splotch and Waardenburg Pax-3 Mutations

    Chalepakis, Georges, Goulding, Martyn, Read, Andrew, Strachan, Tom, Gruss, Peter
    Proceedings of the National Academy of Sciences of the United States of America, 26 April 1994, Vol.91(9), pp.3685-3689 [Revue évaluée par les pairs]

    • Livre
    Sélectionner

    Génétique moléculaire humaine

    Strachan, Tom
    Read, Andrew P, Cartier-Lacave, Nathalie
    Paris : Médecine-Sciences Flammarion
    1998
    Recherche de la disponibilité
    Plus…
    Chargement
    Erreur de chargement
    Titre: Génétique moléculaire humaine / Tom Strachan, Andrew P. Read ; trad. de l'anglais par Nathalie Cartier-Lacave en collab. avec Roger Lacave
    Auteur: Strachan, Tom
    Contributeur: Read, Andrew P; Cartier-Lacave, Nathalie
    Editeur: Paris : Médecine-Sciences Flammarion
    Date: 1998
    Collation: XIV, 597 p. : ill. ; 28 cm
    Sujet RERO: Biologie moléculaire - Génétique - Homme
    Sujet MeSH: Genetics, Biochemical
    Note: Traduit de: Human molecular genetics
    Classification: LC QH431
    Identifiant: 2257110463 (ISBN); http://catalogue.bnf.fr/ark:/12148/cb37004656k (URN)
    No RERO: R239904760
    Permalien:
    http://data.rero.ch/01-R239904760/html?view=FR_V1

    • Plusieurs versions

    Genesis by Meiotic Unequal Crossover of a De Novo Deletion that Contributes to Steroid 21-Hydroxylase Deficiency

    Sinnott, Paul, Collier, Simon, Costigan, Colm, Dyer, Philip A., Harris, Rodney, Strachan, Tom
    Proceedings of the National Academy of Sciences of the United States of America, 1 March 1990, Vol.87(6), pp.2107-2111 [Revue évaluée par les pairs]

    • Plusieurs versions

    Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene

    Tassabehji, Mayada, Read, Andrew P., Newton, Valerie E., Harris, Rodney, Balling, Rudi, Gruss, Peter, Strachan, Tom
    Nature, 2/1992, Vol.355(6361), pp.635-636 [Revue évaluée par les pairs]

    • Article
    Sélectionner

    ATP2A2 Mutations in Darier's Disease: Variant Cutaneous Phenotypes Are Associated with Missense Mutations, But Neuropsychiatry Features Are Independent of Mutation Class

    Ruiz-Perez, Victor L
    Carter, Simon A, Healy, Eugene, Todd, Carole, Rees, Jonathan L, Steijlen, Peter M, Carmichael, Andrew J, Lewis, Helen M, Hohl, D, Itin, Peter, Vahlquist, Anders, Gobello, T, Mazzanti, C, Reggazini, R, Nagy, Gyula, Munro, Colin S, Strachan, Tom
    Human Molecular Genetics. - 1999/8/9/1621-1630
    Disponible
    Plus…
    Titre: ATP2A2 Mutations in Darier's Disease: Variant Cutaneous Phenotypes Are Associated with Missense Mutations, But Neuropsychiatry Features Are Independent of Mutation Class
    Auteur: Ruiz-Perez, Victor L
    Contributeur: Carter, Simon A; Healy, Eugene; Todd, Carole; Rees, Jonathan L; Steijlen, Peter M; Carmichael, Andrew J; Lewis, Helen M; Hohl, D; Itin, Peter; Vahlquist, Anders; Gobello, T; Mazzanti, C; Reggazini, R; Nagy, Gyula; Munro, Colin S; Strachan, Tom
    Description: Darier's disease (DD) is an autosomal dominant skin disorder characterized clinically by multiple keratotic papules, and histologically by focal loss of adhesion between epidermal cells (acantholysis) and by abnormal keratinization. Variant forms of cutaneous phenotype, sometimes familial, have been described. Associated neuropsychiatric features, including mental handicap, schizophrenia, bipolar disorder and epilepsy, have also been reported. The cause of DD was shown recently to be mutation in the ATP2A2gene at 12q24.1, which encodes the sarco-endoplasmic reticulum calcium ATPase type 2 (SERCA2). Here, we show that while both common isoforms of SERCA2 are expressed in the cytoplasm of cultured keratinocytes and fibroblasts, in adult skin sections only the longer isoform, SERCA2b, was expressed abundantly in epidermal structures. Extended mutation analysis in European DD patients using single-strand conformation polymorphism and/or direct sequencing identified 40 different patient-specific mutations in 47 families. The majority (23/40) were likely to result in nonsense-mediated RNA decay. The remaining 17 were missense mutations distributed throughout the protein and were associated significantly with atypical clinical features. The clearest association was with the familial haemorrhagic variant where all four families tested had a missense mutation. Three of the families (one Scottish family and two unrelated Italian families) exhibited the same N767S substitution in the M5 transmembrane domain, and a fourth family, from Sweden, had a C268F substitution in the M3 transmembrane domain. Neuropsychiatric features did not appear to be associated with a specific class of mutation and may be an intrinsic, but inconsistent, effect of defective ATP2A2expression
    Publication en relation: Human Molecular Genetics. - 1999/8/9/1621-1630
    Document hôte: Human Molecular Genetics
    Identifiant: 10.1093/hmg/8.9.1621 (DOI)