Zobrazeno 1 - 10
of 108
pro vyhledávání: '"Marden–Walker syndrome"'
Publikováno v:
Experimental and Therapeutic Medicine
Piezo type mechanosensitive ion channel component 2 (PIEZO2) is a mechanically activated ion channel. Mutations in PIEZO2 may cause distal arthrogryposis 3 (DA3)/Gordon syndrome (GS), DA5, Marden-Walker syndrome (MWS) and associated diseases. To date
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ca53dec88c1307cafc436f78c8b1d50
http://europepmc.org/articles/PMC6447819
http://europepmc.org/articles/PMC6447819
Publikováno v:
Paediatrics Publications
The group of distal arthrogryposis (DA) disorders is characterized by congenital contractures of the distal joints. In most instances, these are genetic disorders are inherited in an autosomal dominant fashion; however, there is wide genetic and phen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34331b004256ed947798a00a307ba952
https://doi.org/10.1002/ajmg.a.61143
https://doi.org/10.1002/ajmg.a.61143
Autor:
Abdullah Al Faifi, Sateesh Maddirevula, Abdulmohsen Al Samadi, Abeer M. Miqdad, Fowzan S. Alkuraya, Mohammed Zain Seidahmed
Publikováno v:
American journal of medical genetics. Part AREFERENCES. 185(3)
Pathogenic heterozygous variants in PIEZO2 typically cause distal arthrogryposis type 5 (DA5) and the closely related Gordon syndrome (GS). Only one case of PIEZO2-related Marden-Walker syndrome (MWS) has been reported to date. We report the phenotyp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6de980d62bb707419d2ee878e143ea3c
https://pubmed.ncbi.nlm.nih.gov/33369052
https://pubmed.ncbi.nlm.nih.gov/33369052
Autor:
Jonas Wörmann, Jan-Hendrik van den Bruck, Jakob Lüker, Tobias Plenge, Daniel Steven, Arian Sultan
Publikováno v:
HerzschrittmachertherapieElektrophysiologie. 31(2)
A pediatric patient suffering from Marden-Walker syndrome, a rare genetic disease, was referred to the authors’ hospital for syncope due to bradycardia. Since this disease is associated with severe joint contractures, a transcatheter leadless pacin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3cfdceff4475b8dc60e167cba569f868
https://pubmed.ncbi.nlm.nih.gov/32372230
https://pubmed.ncbi.nlm.nih.gov/32372230
Autor:
Seyedreza Samsamshariat
Publikováno v:
Journal of Research in Medical and Dental Science, Vol 6, Iss 3, Pp 114-117 (2018)
his is a case of Marden-Walker syndrome and hypoplastic left heart syndrome. Hypoplastic left heart syndrome accounts for 1.5% to 3.8% of all congenital heart diseases, while Marden-Walker syndrome is a rare genetic disease in which atrial septal def
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doajarticles::46d287d2d856f091400ff59f376d04e1
https://www.jrmds.in/articles/hypoplastic-left-heart-syndrome-in-a-fetus-who-died-with-mardenwalker-syndrome-a-case-report.pdf
https://www.jrmds.in/articles/hypoplastic-left-heart-syndrome-in-a-fetus-who-died-with-mardenwalker-syndrome-a-case-report.pdf
Autor:
Karen Y. Niederhoffer, Patrice Eydoux, John B. Mawson, Gen Nishimura, Millan S. Patel, Somayyeh Fahiminiya, Loydie A. Jerome-Majewska
Publikováno v:
American Journal of Medical Genetics Part A. 170:2310-2321
Marden-Walker syndrome is challenging to diagnose, as there is significant overlap with other multi-system congenital contracture syndromes including Beals congenital contractural arachnodactyly, D4ST1-Deficient Ehlers-Danlos syndrome (adducted thumb
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f9c7f4be7b7bae0eefb54fbce7f4dbf2
https://doi.org/10.1002/ajmg.a.37831
https://doi.org/10.1002/ajmg.a.37831
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Nelci Adriana Cicuto Ferreira Rocha, Ana Carolina de Campos, Adriana Neves dos Santos, Carolina Souza Neves da Costa
Publikováno v:
Developmental Neurorehabilitation. 17:278-283
To review literature concerning Marden-Walker syndrome (MWS) and describe physical-functional characteristics of a child with a suspected diagnosis of MWS.Physical examination, laboratory and clinical tests were collected in a two-year-old boy. Bayle
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::46f3ef23f28143565b0212ede29e514a
https://doi.org/10.3109/17518423.2013.878406
https://doi.org/10.3109/17518423.2013.878406
Autor:
Mark S. Lubinsky, Donna M. McDonald-McGinn, Anna Tsai, William Allen, John C. Carey, William B. Dobyns, Renata C. Gallagher, Marc S. Williams, Marie-Claude Addor, Tamison Jewett, Elaine H. Zackai, Roel Hordijk, William G. Newman, Leah W. Burke, Martine LeMerrer, Richard M. Pauli, Rick A. Martin, Nicole Chun, David Wargowsky, Laurie H. Seaver, Gene Hoyme, Mira Irons, Luitgard M. Neumann, Helga V. Toriello, Ellen R. Elias
Publikováno v:
Scopus-Elsevier
American Journal of Medical Genetics. Part A, 123A(1), 84-90. Wiley
American Journal of Medical Genetics. Part A, 123A(1), 84-90. Wiley
Toriello and Carey [1988: Am J Med Genet 31:17-23] first described a syndrome with component manifestations of corpus callosum agenesis, unusual facial appearance, Robin sequence, and other anomalies. This was termed the Toriello-Carey syndrome by La
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21b0d431adfcedf6ca2d9b0704f3a186
https://doi.org/10.1002/ajmg.a.20493
https://doi.org/10.1002/ajmg.a.20493
Autor:
Javier Suela, Roque Tébar-Gil, Alberto Vidal-Company, María Luisa Martínez-Fernández, M C Carrascosa-Romero, Alexandra MacDonald, María Luisa Martínez-Frías, J M Pardal-Fernandez, Eva Bermejo-Sánchez
Publikováno v:
American Journal of Medical Genetics Part A. 161:2281-2290
We present a girl with the characteristic clinical picture associated with Marden-Walker syndrome (MWS; OMIM 248700), including mask-like face with blepharophimosis, joint contractures, intellectual disability, a multicystic dysplastic kidney and cer
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4280dc341d7ba4e11e7dd7b053b720d
https://doi.org/10.1002/ajmg.a.35862
https://doi.org/10.1002/ajmg.a.35862