Výsledky vyhledávání - "Karmen M Trzupek"

Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children

Autor: Edwin M. Stone, Maren Jensen, Edward S. Cohn, Michael S. Hildebrand, Richard J.H. Smith, Jennifer A Halder, A. Eliot Shearer, William J. Kimberling, Karmen M Trzupek, Richard G. Weleber

Publikováno v: Genetics in Medicine. 12:512-516

Purpose: Usher syndrome is a major cause of genetic deafness and blindness. The hearing loss is usually congenital and the retinitis pigmentosa is progressive and first noticed in early childhood to the middle teenage years. Its frequency may be unde

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7811dce87deff3cdcf721a0250f530b6
https://doi.org/10.1097/gim.0b013e3181e5afb8

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Choroideremia: Analysis of the Retina from a Female Symptomatic Carrier

Autor: Yong Li, Peter J. Francis, Vera L. Bonilha, Joe G. Hollyfield, N. Smaoui, Mary E. Rayborn, Richard G. Weleber, Karmen M Trzupek

Publikováno v: Ophthalmic Genetics. 29:99-110

To define the retinal pathology in a 91 year-old affected matriarch of a three-generation choroideremia family with multiple manifesting carriers.Tissue from three different retinal areas was processed for immunohistochemistry. The macular area was p

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0468a94e794e114ded128f0a52c0c397
https://doi.org/10.1080/13816810802206499

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Combined Retinal Hamartomas Leading to the Diagnosis of Neurofibromatosis Type 2

Autor: Kate Crow, Ludwine Messiaen, Karmen M Trzupek, Richard G. Weleber, Jacob A. Reiss, Elizabeth A. Grant

Publikováno v: Ophthalmic Genetics. 29:133-138

To report two cases of neurofibromatosis type 2 (NF2) initially presenting with isolated bilateral combined hamartomas of the retina and retinal pigment epithelium (RPE).Retrospective observational case reports.Two unrelated children presented to oph

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fe462dd22f3d386a80a0dbb3cfb61027
https://doi.org/10.1080/13816810802206507

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Microcephaly with chorioretinopathy in a brother–sister pair: Evidence for germ line mosaicism and further delineation of the ocular phenotype

Autor: Rena E. Falk, Karmen M Trzupek, Richard G. Weleber, Joseph L. Demer

Publikováno v: American Journal of Medical Genetics Part A. :1218-1222

Microcephaly with chorioretinopathy (OMIM 156590) is an autosomal dominant syndrome, characterized primarily by chorioretinal lesions and microcephaly. The phenotype is variable, and has been described in association with retinal dysplasia that can b

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92ad42b2faa1b0f2460add925c3fe881
https://doi.org/10.1002/ajmg.a.31717

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Electroretinographic and clinicopathologic correlations of retinal dysfunction in infantile neuronal ceroid lipofuscinosis (infantile Batten disease)

Autor: Daryl E. Kurz, Meredith S. Wepner, Richard G. Weleber, Ann H. Milam, Karmen M Trzupek, Nisha Gupta

Publikováno v: Molecular Genetics and Metabolism. 83:128-137

Infantile neuronal ceroid lipofuscinosis (INCL) is an autosomal recessive disease that results from deficiency of palmitoyl-protein thioesterase-1 (PPT1). INCL leads to retinal blindness, neurodegeneration, and early death. We studied the clinical fe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a478d6e4c81154be787d670069c9036c
https://doi.org/10.1016/j.ymgme.2004.06.019

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The phenotype of Severe Early Childhood Onset Retinal Dystrophy (SECORD) from mutation of RPE65 and differentiation from Leber congenital amaurosis

Autor: Karmen M Trzupek, Edwin M. Stone, Richard G. Weleber, Michel Michaelides, Niamh B. Stover

Publikováno v: Investigative ophthalmologyvisual science. 52(1)

PURPOSE. To describe in detail the characteristic clinical phenotype and electrophysiological features of Severe Early Childhood Onset Retinal Dystrophy (SECORD) caused by mutation of RPE65. METHODS. Ophthalmological examination, color fundus photogr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd7faeb205e4f09b38451d3fb4c45041
https://pubmed.ncbi.nlm.nih.gov/20811047

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Novel mutations in the KCNV2 gene in patients with cone dystrophy and a supernormal rod electroretinogram

Autor: Karmen M Trzupek, Michael A. Sandberg, Sureka Thiagalingam, Terri L. McGee, Richard G. Weleber, Eliot L. Berson, Thaddeus P. Dryja

Publikováno v: Ophthalmic genetics. 28(3)

Purpose: To identify mutations in KCNV2 in patients with a form of cone dystrophy characterized by a supernormal rod electroretinogram (ERG). Methods: The 2 exons and flanking intron DNA of KCNV2 from 8 unrelated patients were PCR amplified and seque

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8352672a340e5cffb899256011b03b33
https://pubmed.ncbi.nlm.nih.gov/17896311

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Clinical and electrophysiologic characterization of paraneoplastic and autoimmune retinopathies associated with antienolase antibodies

Autor: William T. Shults, Karmen M Trzupek, Robert A. Egan, John R. Heckenlively, Richard G. Weleber, Robert C. Watzke, Grazyna Adamus

Publikováno v: American journal of ophthalmology. 139(5)

Purpose Paraneoplastic and autoimmune retinopathies are immunologically mediated retinal degenerations that are associated with antibodies directed against any of several retinal proteins, including α-enolase. We report the clinical and electrophysi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::03ddc97e219e0c97e11ef51b8844659e
https://pubmed.ncbi.nlm.nih.gov/15860281

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