Zobrazeno 1 - 10
of 41
pro vyhledávání: '"Van den Ende-Gupta syndrome"'
Publikováno v:
BMC Medical Genetics, Vol 19, Iss 1, Pp 1-5 (2018)
Abstract Background Van Den Ende-Gupta Syndrome (VDEGS) is an extremely rare autosomal recessive syndrome with less than 20 reported families (approximately 40 patients) in the worldwide literature. Case presentation We have assessed one consanguineo
Externí odkaz:
https://doaj.org/article/6e486e137aad4bb1aa8d5d062534e769
Autor:
Karaer, Derya, Karaer, Kadri
Publikováno v:
American Journal of Medical Genetics Part A. 188:1881-1884
Van den Ende-Gupta syndrome (VDEGS) (MIM#600920) is characterized by skeletal and craniofacial abnormalities that include prominent ears, downslanting palpebral fissures, blepharophimosis, hypoplastic maxilla with or without a cleft palate, a narrow
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9bcc910cdc3c279033c503daa30f1f9b
https://doi.org/10.1002/ajmg.a.62707
https://doi.org/10.1002/ajmg.a.62707
Autor:
Zainab Al Masseri, Danny E. Miller, Angela E. Lin, Fowzan S. Alkuraya, Colby T. Marvin, Deborah A. Nickerson, Clara C. Hildebrandt, Pedro A. Sanchez-Lara, John M. Graham, Hamad Al-Zaidan, Katheryn Grand, Nisha Patel, Janson White, Michael J. Bamshad, Daniela N. Schweitzer
Publikováno v:
American Journal of Medical Genetics Part A. 185:2136-2149
Van den Ende-Gupta syndrome (VDEGS) is a rare autosomal recessive condition characterized by distinctive facial and skeletal features, and in most affected persons, by biallelic pathogenic variants in SCARF2. We review the type and frequency of the c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bd29cc8eb495578e3a20818965888c71
https://doi.org/10.1002/ajmg.a.62194
https://doi.org/10.1002/ajmg.a.62194
Publikováno v:
BMC Medical Genetics
BMC Medical Genetics, Vol 19, Iss 1, Pp 1-5 (2018)
BMC Medical Genetics, Vol 19, Iss 1, Pp 1-5 (2018)
Background Van Den Ende-Gupta Syndrome (VDEGS) is an extremely rare autosomal recessive syndrome with less than 20 reported families (approximately 40 patients) in the worldwide literature. Case presentation We have assessed one consanguineous Saudi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::41f833a653dd8e53a6c97cd15f5ccb8d
https://pubmed.ncbi.nlm.nih.gov/29378527
https://pubmed.ncbi.nlm.nih.gov/29378527
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
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Autor:
B Gentilin, D. Clerici, Francesca Mari, Alessandra Renieri, Mf Bedeschi, Lorenzo Colombo, Kristin Hofmann, Anita Rauch
Publikováno v:
Molecular Syndromology. 1:239-245
Van den Ende-Gupta syndrome (VDEGS) is a congenital condition characterized by craniofacial and skeletal manifestations, specifically blepharophimosis, malar and maxillary hypoplasia, distinctive nose, arachnocamptodactyly, and long slender bones of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::518bccec47b2d414858646163170867b
https://doi.org/10.1159/000328135
https://doi.org/10.1159/000328135
Autor:
Nouran Adly, Fatma Alzahrani, Fowzan S. Alkuraya, E.A. Elgamal, M.A. Salih, H.Y. Elkhashab, M. Al-Qattan, F. Abdulwahhab, Muneera J. Alshammari, Nisha Patel
Publikováno v:
Clinical Genetics. 85:492-494
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a7afb93f6be51c50947b6162e612bc29
https://doi.org/10.1111/cge.12205
https://doi.org/10.1111/cge.12205
Publikováno v:
American Journal of Medical Genetics. :267-273
We describe two Hispanic brothers born to unrelated parents with van den Ende-Gupta syndrome (VDEGS), a distinctive combination of characteristic dysmorphic features, skeletal abnormalities, and cerebellar hyperplasia. This syndrome was previously de
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64b05dbddbd49f8ee4d7c02387d6bfcd
https://doi.org/10.1002/ajmg.a.10143
https://doi.org/10.1002/ajmg.a.10143
Autor:
M. C. M. Oliveira, Ingele Casteels, Maria Isabel Melaragno, Ana Beatriz Alvarez Perez, David Valle, Decio Brunoni, Thomy de Ravel, Graziela P.M. Antonialli, Michele P. Migliavacca, Nara Sobreira
Van den Ende-Gupta Syndrome (VDEGS) is an autosomal recessive disorder characterized by blepharophimosis, distinctive nose, hypoplastic maxilla, and skeletal abnormalities. Using homozygosity mapping in four VDEGS patients from three consanguineous f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e62cd240a68164431b92b54eab89ac55
https://lirias.kuleuven.be/handle/123456789/439642
https://lirias.kuleuven.be/handle/123456789/439642
