Zobrazeno 1 - 10
of 53
pro vyhledávání: '"Severe muscular hypotonia"'
Publikováno v:
Perm Medical Journal. 38:108-114
Objective. To develop a method for predicting the persistence of hemodynamically significant ductus arteriosus in profoundly premature newborns based on the evaluation of clinical data and the results of additional studies. Material and methods. Sixt
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c3de809791d443f685626e289bfe53b6
https://doi.org/10.17816/pmj381108-114
https://doi.org/10.17816/pmj381108-114
Autor:
David Süßmuth, Ellen Knierim, Claudia Castiglioni, Enrico Bertini, Laurie D. Smith, Omid Aryani, Markus Buelow, Werner Stenzel, Markus Schuelke
Publikováno v:
European Journal of Human Genetics
Neurodevelopmental disorder with hypotonia, neuropathy, and deafness (NEDHND, OMIM #617519) is an autosomal recessive disease caused by homozygous or compound heterozygous variants in SPTBN4 coding for type 4 βIV-spectrin, a non-erythrocytic member
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::daba716165f373b95e04ccab6fc9f715
http://europepmc.org/articles/PMC8298470
http://europepmc.org/articles/PMC8298470
Autor:
Kenjiro Kosaki, Seiji Mizuno, Mamiko Yamada, Tomoko Uehara, Hisato Suzuki, Motomichi Doi, Mie Inaba, Toshiki Takenouchi
Publikováno v:
American Journal of Medical Genetics Part A. 185:1182-1186
The heterozygous deletion of 15q13.3 is a recurrently observed microdeletion syndrome associated with a relatively mild phenotype including learning disability and language impairment. In contrast, the homozygous deletion of 15q13.3 is extremely rare
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::98ca5cbaf8cae3c922d185f7dd497fc3
https://doi.org/10.1002/ajmg.a.62054
https://doi.org/10.1002/ajmg.a.62054
Autor:
Mohammad, Marhabaie, Scott E, Hickey, Katherine, Miller, Olivia, Grischow, Kathleen M, Schieffer, Samuel J, Franklin, David M, Gordon, Samantha, Choi, Theresa, Mihalic Mosher, Peter, White, Daniel C, Koboldt, Richard K, Wilson
Publikováno v:
Cold Spring Harbor Molecular Case Studies
There is increasing recognition for the contribution of genetic mosaicism to human disease, particularly as high-throughput sequencing has enabled detection of sequence variants at very low allele frequencies. Here, we describe an infant male who pre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::9730cca7b180db210ee1c48e83ecb519
https://pubmed.ncbi.nlm.nih.gov/34667072
https://pubmed.ncbi.nlm.nih.gov/34667072
Publikováno v:
Italian Journal of Pediatrics
Italian Journal of Pediatrics, Vol 47, Iss 1, Pp 1-4 (2021)
Italian Journal of Pediatrics, Vol 47, Iss 1, Pp 1-4 (2021)
Background Ehlers-Danlos syndrome (EDS) represents a group of connective tissue disorders characterized by the fragility of the soft connective tissues resulting in widespread skin, ligament, joint, blood vessel and internal organ involvement. The cl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::54584807c58a49e3284546ebc5fe28b4
http://europepmc.org/articles/PMC7881555
http://europepmc.org/articles/PMC7881555
Publikováno v:
Archivos Argentinos de Pediatria. 117
Ehlers-Danlos syndrome (EDS) is a group of clinically and genetically heterogeneous inherited connective tissue disorders, characterized by skin hyperextensibility, poor wound healing, joint hypermobility and tissue friability. Since 1997 a new spect
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a7b624887c21e0ea32a25084db30cbbd
https://doi.org/10.5546/aap.2019.eng.e274
https://doi.org/10.5546/aap.2019.eng.e274
Autor:
Michael Ludwig, Arend Bökenkamp
Publikováno v:
Pediatric Nephrology (Berlin, Germany)
Bökenkamp, A & Ludwig, M 2016, ' The oculocerebrorenal syndrome of Lowe : an update ', Pediatric Nephrology, vol. 31, no. 12, pp. 2201-2212 . https://doi.org/10.1007/s00467-016-3343-3
Bökenkamp, A & Ludwig, M 2016, ' The oculocerebrorenal syndrome of Lowe : an update ', Pediatric Nephrology, vol. 31, no. 12, pp. 2201-2212 . https://doi.org/10.1007/s00467-016-3343-3
The oculocerebrorenal syndrome of Lowe is a rare X-linked multisystemic disorder characterized by the triad of congenital cataracts, intellectual disability, and proximal renal tubular dysfunction. Whereas the ocular manifestations and severe muscula
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bbda4693316bb0042b6147f9b7c643e0
https://doi.org/10.1007/s00467-016-3343-3
https://doi.org/10.1007/s00467-016-3343-3
Autor:
André Reis, Christiane Zweier, Christian Thiel, Cornelia Kraus, Arif B. Ekici, Regina Trollmann, Katalin L.M.L. Hetzelt, Stefan Kusnik, Steffen Uebe
Publikováno v:
European Journal of Medical Genetics. 63:103998
Autosomal-recessive spinocerebellar ataxia type 18 (SCAR18) is a rare neurologic disorder. It is caused by bi-allelic aberrations in the GRID2 gene, encoding an ionotropic glutamate receptor. In total, 20 affected individuals with mainly homozygous/c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f4c7bd8871d926711e3461c8e40adf58
https://doi.org/10.1016/j.ejmg.2020.103998
https://doi.org/10.1016/j.ejmg.2020.103998
Autor:
Martin Lammens, Matthias C. Braunisch, H. Gallwitz, Thomas Meitinger, Sabine Rudnik-Schöneborn, Elke Holinski-Feder, L. Van Maldergem, Bader Alhaddad, Reka Kovacs-Nagy, Angela Abicht, Tobias B. Haack, T. M. Strom, Jan Senderek, I. Diebold
Publikováno v:
Clinical genetics
Biallelic mutations in SLC25A46, encoding a modified solute transporter involved in mitochondrial dynamics, have been identified in a wide range of conditions such as hereditary motor and sensory neuropathy with optic atrophy type VIB (OMIM: *610826)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ba95cdafede2b047214c28bd3afd11ef
https://hdl.handle.net/10067/1525760151162165141
https://hdl.handle.net/10067/1525760151162165141
Autor:
Daniela Karall, Katharina Steindl, Christine Fauth, Pascal Joset, Christian R. Marshall, Oliver Maier, Sebastian Böhm, Alessandra Baumer, Annick Toutain, Sandra A. Farrell, Johannes Zschocke, Anita Rauch, Rosanna Weksberg, Martina Witsch-Baumgartner
Publikováno v:
American Journal of Medical Genetics Part A. 170:392-402
Hypomorphic germline mutations in the PIGA (phosphatidylinositol glycan class A) gene recently were recognized as the cause of a clinically heterogeneous spectrum of X-linked disorders including (i) early onset epileptic encephalopathy with severe mu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b5940cd0dc0a44f67950ea77b991c60e
https://doi.org/10.1002/ajmg.a.37452
https://doi.org/10.1002/ajmg.a.37452