Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Elias O. Da-Silva"'
Publikováno v:
Clinical Genetics. 52:51-55
In this study, we report on two brothers, born to consanguineous parents, with a syndrome of sensorineural deafness, short stature, cryptorchidism, inguinal hernia, brachycephaly, prominent forehead, flat face, downslanting palpebral fissures, low na
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::16e1ee34ba57b88b72294d79e08fc95d
https://doi.org/10.1111/j.1399-0004.1997.tb02514.x
https://doi.org/10.1111/j.1399-0004.1997.tb02514.x
Publikováno v:
Clinical Genetics. 44:20-25
A set of 15 surface measurements taken directly from the craniofacial region were determined in 51 patients with Waardenburg syndrome type I (WSI). A roentgencephamometric analysis including 20 linear dimensions was also performed by the use of cepha
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f9d4c1d7c4bb7c7d4671177a1a0e29ea
https://doi.org/10.1111/j.1399-0004.1993.tb03836.x
https://doi.org/10.1111/j.1399-0004.1993.tb03836.x
Autor:
S H Blanton, Lindsay A. Farrer, Andrew P. Read, Thomas B. Friedman, Edward R. Wilcox, Melisa L. Carey, Elias O. da Silva, Anil K. Lalwani, L. Adrienne Cupples, Arti Pandya, Kathleen S. Arnos, Clinton T. Baldwin, Jacquie Greenberg, James H. Asher, Rajkumar Ramesar, Aubrey Milunsky, Walter E. Nance, May Tassabejhi, Anita L. DeStefano
Publikováno v:
Human Genetics. 102:499-506
Waardenburg syndrome (WS) type 1 is an autosomal dominant disorder characterized by sensorineural hearing loss, pigmentary abnormalities of the eye, hair, and skin, and dystopia canthorum. The phenotype is variable and affected individuals may exhibi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d808ff6cce74a6804e708751c456374
https://doi.org/10.1007/s004390050732
https://doi.org/10.1007/s004390050732
Autor:
Susan E. Ide, Elias O. Da Silva, Reed E. Pyeritz, Mihael H. Polymeropoulos, Michael Wright, Jean Weissenbach, Judith A. Goodship, Rosa Isela Ortiz De Luna, Clair A. Francomano
Publikováno v:
Genomics. 35:1-5
Ellis-van Creveld syndrome (EVC) is an autosomal recessive disorder characterized by disproportionate dwarfism, polydactyly, and congenital heart disease. This rare disorder is found with increased frequency among the Old Order Amish community in Lan
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::08ce6991fa0799f2e2feaed6658c033c
https://doi.org/10.1006/geno.1996.0315
https://doi.org/10.1006/geno.1996.0315
Autor:
Christopher Geoffrey Woods, Elias O. da Silva, Suzana Maria Ramos Costa, Daniel J. Hampshire, Emma Roberts, G F Leal
Publikováno v:
Journal of Medical Genetics. 40:540-542
Microcephaly is the clinical finding of a head circumference measurement greater than three standard deviations (SD) below the population mean for age and sex. It is usually accompanied by mental retardation and there are many diagnoses with both env
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e220d8a55fcd80df9c79bd4246ca8a85
https://doi.org/10.1136/jmg.40.7.540
https://doi.org/10.1136/jmg.40.7.540
Publikováno v:
American journal of medical genetics. Part A. (6)
van den Ende-Gupta syndrome is characterized by craniofacial and skeletal manifestations, mainly malar and/or maxillary hypoplasia, blepharophimosis, distinctive nose, lower lip eversion, arachnodactyly, camptodactyly, and long slender bones of hands
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9afec87a03b222a95415e00ffed00a60
https://pubmed.ncbi.nlm.nih.gov/19449421
https://pubmed.ncbi.nlm.nih.gov/19449421
Autor:
Elias O. Da‐Silva
Publikováno v:
American Journal of Medical Genetics. 40:65-74
Two large kindreds with Waardenburg I syndrome are described. The total number of affected individuals is 73. The major manifestations are telecanthus (the only constant anomaly in all cases), prominent nasal root, round or square tip of nose, hypopl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2093798b20d3beb2777f715d2983230b
https://doi.org/10.1002/ajmg.1320400113
https://doi.org/10.1002/ajmg.1320400113
Publikováno v:
Jornal de pediatria. 75(5)
OBJECTIVE: To describe an atypical case of Down syndrome presenting with additional clinical manifestations that might be components of Kabuki (Niikawa-Kuroki) syndrome.CLINICAL REPORT: We report the clinical history of a 19-month-old girl with a 47,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b135e19c3c1400e7e5a4b3e41ef55d8
https://pubmed.ncbi.nlm.nih.gov/14685516
https://pubmed.ncbi.nlm.nih.gov/14685516
Autor:
Elias O. Da Silva, Judith A. Goodship, Cecilia Espinoza-Valdez, J. Helen Blair, Ben C.J. Hamel, Michael Wright, Stuart W. Tompson, John L. Gibbs, Victor L. Ruiz-Perez, Ian D. Young, Pablo Lapunzina
Publikováno v:
American Journal of Human Genetics, 72, 728-32
American Journal of Human Genetics, 72, 3, pp. 728-32
American Journal of Human Genetics, 72, 3, pp. 728-32
Item does not contain fulltext Ellis-van Creveld syndrome (EvC) is an autosomal recessive skeletal dysplasia. Elsewhere, we described mutations in EVC in patients with this condition (Ruiz-Perez et al. 2000). We now report that mutations in EVC2 also
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c08e0ff68b1c1172148ed739bc4ec83a
http://hdl.handle.net/2066/166897
http://hdl.handle.net/2066/166897
Publikováno v:
American Journal of Medical Genetics. 109:333-334
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::36fd7596ae3d059526ecbf9db7a53e52
https://doi.org/10.1002/ajmg.10377
https://doi.org/10.1002/ajmg.10377