Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephaly.

Autor: Herbst C; Institute of Human Genetics, University of Leipzig Medical Center, 04103, Leipzig, Germany., Bothe V; Institute of Human Genetics, University of Leipzig Medical Center, 04103, Leipzig, Germany., Wegler M; Institute of Human Genetics, University of Leipzig Medical Center, 04103, Leipzig, Germany., Axer-Schaefer S; Department of Epileptology, Krankenhaus Mara Bethel Epilepsy Center Medical School OWL, Bielefeld University, Campus Bethel, Bielefeld, Germany., Audebert-Bellanger S; Department of Genetics, CHU Brest, 29000, Brest, France., Gecz J; Adelaide Medical School and Robinson Research Institute, The University of Adelaide, Adelaide, SA, Australia., Cogne B; Service de Génétique Médicale, CHU Nantes, 44000, Nantes, France.; l'institut du Thorax, Nantes Université, CHU Nantes, CNRS, INSERM, 44000, Nantes, France., Feldman HB; The Genetics Institute and Genomics Center, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Horn AHC; Institute of Biochemistry, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Erlangen National High Performance Computing Center, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany., Hurst ACE; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA., Kelly MA; HudsonAlpha Clinical Services Lab, HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA., Kruer MC; Barrow Neurological Institute, Phoenix Children's Hospital University of Arizona College of Medicine, Phoenix, USA., Kurolap A; The Genetics Institute and Genomics Center, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel., Laquerriere A; Department of Anatomy, Inserm U1245 and CHU Rouen, Univ Rouen Normandie, 76000, Rouen, France., Li M; Invitae Corp, San Francisco, CA, USA., Mark PR; Division of Medical Genetics, Helen DeVos Children's Hospital, Corewell Health, Grand Rapids, MI, USA., Morawski M; Center of Neuropathology and Brain Research, Medical Faculty, Paul Flechsig Institute, University of Leipzig, Leipzig, Germany., Nizon M; Service de Génétique Médicale, CHU Nantes, 44000, Nantes, France.; l'institut du Thorax, Nantes Université, CHU Nantes, CNRS, INSERM, 44000, Nantes, France., Pastinen T; Genomic Medicine Center, Children's Mercy Hospital, Kansas City, USA.; University of Missouri Kansas City School of Medicine, Kansas City, USA., Polster T; Department of Epileptology, Krankenhaus Mara Bethel Epilepsy Center Medical School OWL, Bielefeld University, Campus Bethel, Bielefeld, Germany., Saugier-Veber P; Department of Genetics and Reference Center for Developmental Disorders, Inserm U1245 and CHU Rouen, Univ Rouen Normandie, 76000, Rouen, France., SeSong J; Genomic Medicine Institute, Seoul National University, Seoul, Republic of Korea., Sticht H; Institute of Biochemistry, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany., Stieler JT; Center of Neuropathology and Brain Research, Medical Faculty, Paul Flechsig Institute, University of Leipzig, Leipzig, Germany., Thifffault I; Genomic Medicine Center, Children's Mercy Hospital, Kansas City, USA.; University of Missouri Kansas City School of Medicine, Kansas City, USA., van Eyk CL; Adelaide Medical School and Robinson Research Institute, The University of Adelaide, Adelaide, SA, Australia., Marcorelles P; Department of Anatomy, CHU Brest, 29000, Brest, France., Vezain-Mouchard M; Department of Genetics and Reference Center for Developmental Disorders, Inserm U1245 and CHU Rouen, Univ Rouen Normandie, 76000, Rouen, France., Abou Jamra R; Institute of Human Genetics, University of Leipzig Medical Center, 04103, Leipzig, Germany., Oppermann H; Institute of Human Genetics, University of Leipzig Medical Center, 04103, Leipzig, Germany. henry.oppermann@medizin.uni-leipzig.de.

Publikováno v: Human genetics [Hum Genet] 2024 Mar; Vol. 143 (3), pp. 455-469. Date of Electronic Publication: 2024 Mar 25.

A Review of Biomarkers of Amyotrophic Lateral Sclerosis: A Pathophysiologic Approach.

Autor: Alshehri, Rawiah S.¹ (AUTHOR) rsjalshehri@kau.edu.sa, Abuzinadah, Ahmad R.^2,3 (AUTHOR) aabuzinadah@kau.edu.sa, Alrawaili, Moafaq S.^2,3 (AUTHOR) aaalshareef@kau.edu.sa, Alotaibi, Muteb K.⁴ (AUTHOR) mk-alotaibi@psmmc.med.sa, Alsufyani, Hadeel A.¹ (AUTHOR) haalsufyani@kau.edu.sa, Alshanketi, Rajaa M.⁵ (AUTHOR) ralshanketi@kau.edu.sa, AlShareef, Aysha A.^2,3 (AUTHOR)

Publikováno v: International Journal of Molecular Sciences. Oct2024, Vol. 25 Issue 20, p10900. 34p.

Twelve novel mutations (Y11C, A34V, R54H, R135H, N194D, G203V, E218G, D277Y, F310G, 998-1T, A382S, V406A) in the tissue-non specific alkaline phosphatase (TNSALP) gene in patients with various forms of Hypophosphatasia

Autor: Taillandier, A., Lia-Baldini, Anne-Sophie, Mouchard, M., Robin, B., Muller, F., Simon-Bouy, B., Serre, J.L., Bera-Louville, A., Eckhard, J., Gaillard, Déborah, Grethe Myhre, A., Kortge-Jung, S., Larget-Piet, L., Libaers, I., Malou, E., Sillence, D., Temple, I.K., Viot, G., Mornet, Etienne

Publikováno v: Human Mutation
Human Mutation, Wiley, 2001, 18, pp.83-84

International audience

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::deab5a0916f3d61ecc9acb8345824d19
https://hal.inrae.fr/hal-02682051

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Twelve novel mutations in the tissue-nonspecific alkaline phosphatase gene (ALPL) in patients with various forms of hypophosphatasia.

Autor: Taillandier A; Centre d'Etudes de Biologie Prénatale - SESEP, Université de Versailles, Versailles, France., Lia-Baldini AS, Mouchard M, Robin B, Muller F, Simon-Bouy B, Serre JL, Bera-Louville A, Bonduelle M, Eckhardt J, Gaillard D, Myhre AG, Körtge-Jung S, Larget-Piet L, Malou E, Sillence D, Temple IK, Viot G, Mornet E

Publikováno v: Human mutation [Hum Mutat] 2001; Vol. 18 (1), pp. 83-4.