Zobrazeno 1 - 10
of 23
pro vyhledávání: '"Ruth M, Liberfarb"'
Publikováno v:
Clinical Genetics. 14:261-264
This is the first report to our knowledge of trisomy 21 in two members of a set of triplets. The two with Down syndrome are monozygous; the other triplet is not identical. These triplets were born to a 22-year-old woman in whose family there have bee
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b8f979a6b0ec941624bebbe8ebbf0dd4
https://doi.org/10.1111/j.1399-0004.1978.tb02144.x
https://doi.org/10.1111/j.1399-0004.1978.tb02144.x
Autor:
Ruth M, Liberfarb, Howard P, Levy, Peter S, Rose, Douglas J, Wilkin, Joie, Davis, Joan Z, Balog, Andrew J, Griffith, Yvonne M, Szymko-Bennett, Jennifer J, Johnston, Clair A, Francomano, Ekaterina, Tsilou, Benhamin I, Rubin
Publikováno v:
Genetics in Medicine. 5:21-27
Purpose: To evaluate a cohort of clinically diagnosed Stickler patients in which the causative COL2A1 mutation has been identified, determine the prevalence of clinical features in this group as a whole and as a function of age, and look for genotype
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::823310c5a4c34381aa8c99506fc4df1b
https://doi.org/10.1097/00125817-200301000-00004
https://doi.org/10.1097/00125817-200301000-00004
Autor:
Joie Davis, Paul D. Sponseller, Ruth M. Liberfarb, Peter S. Rose, Nicholas U. Ahn, Howard P. Levy, Donna Magid, Clair A. Francomano
Publikováno v:
Journal of Pediatric Orthopedics. 21:657-663
Stickler syndrome is an autosomal dominant connective tissue disorder with a prevalence similar to that of Marfan syndrome. No previous study has examined hip pain or abnormalities in a large series of patients with Stickler syndrome. The purpose of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e8d8317f21eb6e8913c3ef0abd6245d0
https://doi.org/10.1097/00004694-200109000-00020
https://doi.org/10.1097/00004694-200109000-00020
Autor:
Peter S. Rose, Nicholas U. Ahn, Howard P. Levy, Donna Magid, Joie Davis, Ruth M. Liberfarb, Paul D. Sponseller, Clair A. Francomano
Publikováno v:
Journal of Pediatric Orthopaedics. 21:657-663
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::48bbdde8bf83ac974ad5dc4bbc0b89e5
https://doi.org/10.1097/01241398-200109000-00020
https://doi.org/10.1097/01241398-200109000-00020
Autor:
Howard P. Levy, Joie Davis, Clair A. Francomano, Nicholas U. Ahn, Uri M. Ahn, Leelakrishna Nallamshetty, Ruth M. Liberfarb, Paul D. Sponseller, Peter S. Rose
Publikováno v:
Spine. 26:403-409
Study design Retrospective review of clinical and radiographic records of patients with Stickler syndrome. Objectives To describe thoracolumbar spinal abnormalities and their correlation with age and back pain among patients with Stickler syndrome. S
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa8b440b3fa57b1374fab64f10c0a519
https://doi.org/10.1097/00007632-200102150-00017
https://doi.org/10.1097/00007632-200102150-00017
Publikováno v:
Journal of Child Neurology. 8:271-276
The proband, a French-Canadian white boy, presented with congenital sensory polyneuropathy, moderate to severe sensorineural hearing loss, infantile cataracts, nystagmus, esotropia, unusual facies, hypotonia, bilateral congenital hip dysplasia, delay
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b26c374c3b0dd07422d369c1d3aa741
https://doi.org/10.1177/088307389300800312
https://doi.org/10.1177/088307389300800312
Publikováno v:
American Journal of Ophthalmology. 110:143-148
We determined the clinical characteristics of cataract in 133 patients with the Stickler syndrome. Cataracts of various types or aphakia were found in 115 of 231 eyes (49.8%) studied. The most frequent and distinctive lesions, described as wedge and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::91cb52d0c871eece87f5cb4a87f3b173
https://doi.org/10.1016/s0002-9394(14)76982-x
https://doi.org/10.1016/s0002-9394(14)76982-x
Autor:
Saumil N. Merchant, David Climenhager, Joseph B. Nadol, Roland D. Eavey, Daniel M. Albert, Ruth M. Liberfarb, Roger Williams
Publikováno v:
American Journal of Otolaryngology. 11:112-124
Norrie's disease is an x-linked recessive disorder characterized by progressive oculoacousticocerebral degeneration. The light and electron microscopic changes in the temporal bones, eyes, and brain of an affected 77-year-old man who suffered from bi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::093e4aba5e8fdfc5979ae4af5e9a4550
https://doi.org/10.1016/0196-0709(90)90007-i
https://doi.org/10.1016/0196-0709(90)90007-i
Autor:
Peter S. Rose, Howard P. Levy, Yvonne M. Szymko-Bennett, Ekaterini Tsilou, Benjamin I. Rubin, Andrew J. Griffith, Ruth M. Liberfarb, Joie Davis, Clair A. Francomano
Publikováno v:
American journal of medical genetics. Part A. (3)
The purpose of this study was to establish diagnostic criteria for Stickler syndrome. Ninety patients from 38 families had complete evaluations for possible Stickler syndrome. Molecular confirmation of COL2A1 mutation status (type I Stickler syndrome
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3301f174039bd4c3a764613b637e118e
https://pubmed.ncbi.nlm.nih.gov/16152640
https://pubmed.ncbi.nlm.nih.gov/16152640
