Zobrazeno 1 - 10
of 11
pro vyhledávání: '"R E, Schnur"'
Publikováno v:
Journal of Perinatology. 34:948-950
Mitchell-Riley syndrome/Martinez-Frias syndrome (MRS/MFS) is a rare, autosomal recessive disorder with multisystem involvement and poor prognosis. Most reported cases have been associated with homozygous or compound heterozygous mutations in the RFX6
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::723a8d1aa09135faf2ad610955738c33
https://doi.org/10.1038/jp.2014.162
https://doi.org/10.1038/jp.2014.162
Publikováno v:
Neuroradiology. 39:523-528
We examined 21 patients aged 5 months to 19 years, on a 1.5 T magnet. T1-weighted spin-echo images, proton density and T2-weighted images with spin-echo and turbo spin-echo sequences, and contrast-enhanced magnetization transfer (MT) T1-weighted imag
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a13af88393c35db9803d4fa546b32cd8
https://doi.org/10.1007/s002340050459
https://doi.org/10.1007/s002340050459
Autor:
R E, Schnur, W R, Heymann
Publikováno v:
Seminars in Cutaneous Medicine and Surgery. 16:72-80
Disorders that are characterized by a reticulate pattern of pigmentation are reviewed. Dyskeratosis congenita (DKC) is the prototype of these. In addition to reticulate hyperpigmentation, mucosal leukoplakia, bone marrow dysfunction, cytogenetic inst
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::da6f32bedb2afb7234fa4d755987e893
https://doi.org/10.1016/s1085-5629(97)80038-7
https://doi.org/10.1016/s1085-5629(97)80038-7
Autor:
R. E. Schnur
Publikováno v:
Archives of Dermatology. 131:1460-1462
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::44a414455fb540d6dd3fb2e9b52c263b
https://doi.org/10.1001/archderm.131.12.1460
https://doi.org/10.1001/archderm.131.12.1460
Publikováno v:
American journal of medical genetics. 72(1)
The "CHIME" syndrome (MIM#280000) is a rare neuroectodermal disorder comprised of Colobomas of the eye, Heart defects, Ichthyosiform dermatosis, Mental retardation, and Ear defects. We report on the sixth child with this syndrome and the first of the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b6cacee2aaf9fe5234772f348fbef5e8
https://pubmed.ncbi.nlm.nih.gov/9295069
https://pubmed.ncbi.nlm.nih.gov/9295069
Publikováno v:
American journal of medical genetics. 70(1)
We apply a method proposed by Rogatko et al. [1995: Am J Med Genet 59:24-32] to estimate carrier risks using genetic linkage data. The method is illustrated for X-linked ocular albinism. Linkage data from pedigrees were combined with genome mapping d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::099f32a1e0f97b8f59bd5419b3596390
https://pubmed.ncbi.nlm.nih.gov/9129743
https://pubmed.ncbi.nlm.nih.gov/9129743
Autor:
R A, Spritz, J, Oh, K, Fukai, S A, Holmes, L, Ho, D, Chitayat, T D, France, M A, Musarella, S J, Orlow, R E, Schnur, R G, Weleber, A V, Levin
Publikováno v:
Human mutation. 10(2)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b53cd5c8da2603d84b15305867e3a438
https://pubmed.ncbi.nlm.nih.gov/9259202
https://pubmed.ncbi.nlm.nih.gov/9259202
Autor:
S T, Lee, R D, Nicholls, R E, Schnur, L C, Guida, J, Lu-Kuo, N B, Spinner, E H, Zackai, R A, Spritz
Publikováno v:
Human molecular genetics. 3(11)
Type II (tyrosinase-positive) oculocutaneous albinism (OCA2) is an autosomal recessive disorder in which the biosynthesis of melanin pigment is reduced in the skin, hair, and eyes. OCA2, which we have shown results from mutations of the P gene in Cau
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::9a4c07421f1f57c8382b5ab501980eb1
https://pubmed.ncbi.nlm.nih.gov/7874125
https://pubmed.ncbi.nlm.nih.gov/7874125
Autor:
R E, Schnur, P A, Wick, C, Bailey, T, Rebbeck, R G, Weleber, J, Wagstaff, A W, Grix, R A, Pagon, A, Hockey, M J, Edwards
Publikováno v:
American journal of human genetics. 55(3)
One hundred nineteen individuals from 11 families with X-linked ocular albinism (OA1) were studied with respect to both their clinical phenotypes and their linkage genotypes. In a four-generation Australian family, two affected males and an obligator
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::708d5427433040a0cbdd9f0bce0c09b9
https://pubmed.ncbi.nlm.nih.gov/7915878
https://pubmed.ncbi.nlm.nih.gov/7915878
Autor:
R E, Schnur, A J, Herzberg, N, Spinner, J A, Kant, M, Magnusson, D, McDonald-McGinn, K, Rehberg, P J, Honig, E H, Zackai
Publikováno v:
Journal of the American Academy of Dermatology. 28(2 Pt 2)
We describe a 2 1/2-year-old boy who has hirsutism and ringed creases of the extremities associated with an underlying smooth muscle hamartoma. Cutaneous findings in this child resemble those in other reports of the "Michelin tire syndrome." Histolog
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::d21bee04cc784db1a5b036f5460d84c4
https://pubmed.ncbi.nlm.nih.gov/8436660
https://pubmed.ncbi.nlm.nih.gov/8436660