Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Bilateral radial aplasia"'
Autor:
Michaela Hýblová, Vanda Rísová, Jan Miertus, Darina Ďurovčíková, Erika Tomková, Matteo Bertelli, Paolo Enrico Maltese
Publikováno v:
Journal of Biotechnology. 311:44-48
Rare genetic diseases and syndromes may appear with unique features in some patients. In genetically-solved cases, this situation indicates a phenotypic expansion of the syndrome with additional features (i.e. the disease-associated gene gives rise t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dbfc3b9f3340114904119b66c9730eab
https://doi.org/10.1016/j.jbiotec.2020.02.011
https://doi.org/10.1016/j.jbiotec.2020.02.011
Autor:
Elisa Adele Colombo, Hatice Mutlu-Albayrak, Yousef Shafeghati, Mine Balasar, Juliette Piard, Davide Gentilini, Anna Maria Di Blasio, Cristina Gervasini, Lionel Van Maldergem, Lidia Larizza
Publikováno v:
Frontiers in Pediatrics
Frontiers in Pediatrics, Vol 7 (2019)
Frontiers in Pediatrics, Vol 7 (2019)
Baller-Gerold (BGS, MIM#218600) and Roberts (RBS, MIM#268300) syndromes are rare autosomal recessive disorders caused, respectively, by biallelic alterations in RECQL4 (MIM*603780) and ESCO2 (MIM*609353) genes. Common features are severe growth retar
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::67f704edce7d355fc69ab43d768ff54d
https://doi.org/10.3389/fped.2019.00210
https://doi.org/10.3389/fped.2019.00210
Publikováno v:
Europe PubMed Central
A new case of the Baller-Gerold syndrome is described in a 6 1/2-year-old, black male who presented at birth with bilateral synostoses of the coronal and lambdoidal sutures, bilateral radial aplasia, vertebral anomalies and genito-urinary malformatio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::22f1123ca29fe697566eaf0b2c9ceb49
https://doi.org/10.1111/j.1399-0004.1980.tb00126.x
https://doi.org/10.1111/j.1399-0004.1980.tb00126.x
Publikováno v:
Clinical Dysmorphology. 9:79-85
A syndrome is described in three isolated patients in whom the main features are bilateral radial aplasia, short stature, an inflammatory based 'elastic' pyloric stenosis, a pan-enteric inflammatory gut disorder that appears to be due to an autoimmun
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d9de9e021cf3eca5f15998aefa2d7e75
https://doi.org/10.1097/00019605-200009020-00001
https://doi.org/10.1097/00019605-200009020-00001
Publikováno v:
Prenatal Diagnosis. 19:54-57
A fetus with bilateral radial aplasia was identified on routine ultrasound. The diagnosis of thrombocytopenia absent radius (TAR) syndrome was confirmed with cordocentesis. The differential diagnosis of radial aplasia and prenatal tests available to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f20533386106d3a2abe6030f4d5cefa2
https://doi.org/10.1002/(sici)1097-0223(199901)19:1<54::aid-pd452>3.0.co
https://doi.org/10.1002/(sici)1097-0223(199901)19:1<54::aid-pd452>3.0.co
Publikováno v:
Journal of Medical Case Reports, Vol 6, Iss 1, p 168 (2012)
Journal of Medical Case Reports
Journal of Medical Case Reports
Introduction Thrombocytopenia with absent radii is a rare congenital defect with hypomegakaryocytic thrombocytopenia and bilateral radial aplasia that may have additional anomalies. We report the case of a girl baby with thrombocytopenia and absent r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a4ca4abf23aec21f8c9c4768a79ad2a5
https://doi.org/10.1186/1752-1947-6-168
https://doi.org/10.1186/1752-1947-6-168
Autor:
Judith G. Hall, Harald Schulze, Silke Fleischhauer, Ruth Newbury-Ecob, Gabriele Strauß, Lynn Greenhalgh, Claus-Eric Ott, Eva Klopocki, Rolf Habenicht, André Mégarbané, Hans-Hilger Ropers, Stefan Mundlos, Eva Seemanova, Luitgard M. Neumann, Rainer König, Reinhard Ullmann, Denise Horn, Fabienne Trotier
Thrombocytopenia-absent radius (TAR) syndrome is characterized by hypomegakaryocytic thrombocytopenia and bilateral radial aplasia in the presence of both thumbs. Other frequent associations are congenital heart disease and a high incidence of cow's
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2886ded6714281dec1727997ee3b6e3d
https://europepmc.org/articles/PMC1785342/
https://europepmc.org/articles/PMC1785342/
Publikováno v:
Clinical dysmorphology. 11(4)
We report a fetus with atelencephaly, bilateral radial aplasia/hypoplasia, ventriculoseptal defect and megacolon, this combination of anomalies being consistent with the diagnosis of XK-aprosencephaly syndrome. The facial dysmorphology of this fetus
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a954041828123e696da16dbb46e9ff3
https://pubmed.ncbi.nlm.nih.gov/12402000
https://pubmed.ncbi.nlm.nih.gov/12402000
Autor:
R. T. Howell, Keith W. Brown, Ruth Newbury-Ecob, P J Ancliff, K. L. Greenhalgh, Ellen G Vernon, C C Verschuuren-Bemelmans, H G Brunner, A. Bottani
Publikováno v:
Journal of Medical Genetics, 39, 876-81
Journal of Medical Genetics, 39, 12, pp. 876-81
JOURNAL OF MEDICAL GENETICS, 39(12), 876-881. BMJ PUBLISHING GROUP
Journal of Medical Genetics, 39, 12, pp. 876-81
JOURNAL OF MEDICAL GENETICS, 39(12), 876-881. BMJ PUBLISHING GROUP
Item does not contain fulltext The thrombocytopenia-absent radius (TAR) syndrome is a congenital malformation syndrome characterised by bilateral absence of the radii and a thrombocytopenia. The lower limbs, gastrointestinal, cardiovascular, and othe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ccdcfee9df51e726797f180082b0e63
http://hdl.handle.net/2066/185509
http://hdl.handle.net/2066/185509
Autor:
Franco Locatelli, Maria Savino, Roberto Tonelli, Michele D'Avanzo, Paola Giordano, Domenico De Mattia, Guido Paolucci, Caterina Borgna, Achille Iolascon, Anna Savoia, F. Massolo, Gian Paolo Bagnara, Pierluigi Strippoli, Leopoldo Zelante
Thrombocytopenia with absent radii (TAR) is a rare autosomal recessive disease characterized by hypomegakaryocytic thrombocytopenia and bilateral radial aplasia. We performed mutational screening of coding and promoter regions of the c-mpl gene, enco
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6cfb8637dfe6c17b46a10fa5e954db9
http://hdl.handle.net/11368/1701512
http://hdl.handle.net/11368/1701512