Výsledky vyhledávání - "Jana Sachwitz"

NSD1duplication in Silver-Russell syndrome (SRS): molecular karyotyping in patients with SRS features

Autor: Katja Eggermann, Klaus Zerres, Miriam Elbracht, Alexia Bach, Andrea Luczay, Nadina Ortiz Brüchle, Jana Sachwitz, György Fekete, Vaidutis Kučinskas, Thomas Eggermann, Stephanie Spranger, Aušra Matulevičienė, Robert Meyer

Publikováno v: Clinical Genetics. 91:73-78

Silver-Russell syndrome (SRS) is a growth retardation syndrome characterized by intrauterine and postnatal growth retardation, relative macrocephaly and protruding forehead, body asymmetry and feeding difficulties. Nearly 50% of cases show a hypometh

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::45420cb02db2284d4d2269034e115a16
https://doi.org/10.1111/cge.12803

Zobrazit plný text záznamu

Structural and sequence variants in patients with Silver-Russell syndrome or similar features-Curation of a disease database

Autor: Jana Sachwitz, Julia Angélica López-Hernández, Karen Grønskov, Lene Bjerring Gede, Irène Netchine, Zeynep Tümer, Miriam Elbracht, Thomas Eggermann, Johan T. den Dunnen

Publikováno v: Human mutation. 39(3)

Silver-Russell syndrome (SRS) is a clinically and molecularly heterogeneous disorder involving prenatal and postnatal growth retardation, and the term SRS-like is broadly used to describe individuals with clinical features resembling SRS. The main mo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0be05f7e342c8a591417f09a349a47c7
https://pubmed.ncbi.nlm.nih.gov/29250858

Zobrazit plný text záznamu

Examinations of maternal uniparental disomy and epimutations for chromosomes 6, 14, 16 and 20 in Silver-Russell syndrome-like phenotypes

Autor: Getrud Strobl-Wildemann, Matthias Begemann, Lukas Soellner, Jana Sachwitz, Thomas Eggermann, György Fekete, Laima Ambrozaitytė, Vaidutis Kučinskas

Publikováno v: BMC medical genetics 17, 20 (2016). doi:10.1186/s12881-016-0280-8
BMC Medical Genetics, London : BioMed Central Ltd., 2016, Vol. 17, Art. No. 20
BMC Medical Genetics

BMC medical genetics 17, 20 (2016). doi:10.1186/s12881-016-0280-8
Published by BioMed Central, London

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c67cbb1d8d13056a97c57a5a4ece8582
https://publications.rwth-aachen.de/record/683113

Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání