Zobrazeno 1 - 10
of 101
pro vyhledávání: '"R E, Falk"'
Autor:
Julie Hoover-Fong, B. A. Thompson, Ute Moog, Gail E. Graham, S. M. Amudhavalli, R. E. Falk, Susan Zeesman, Denise A.S. Batista, Małgorzata J.M. Nowaczyk, Pedro A. Sanchez-Lara, Katherine A. Rauen, Susan M. White, Pilar L. Magoulas
Publikováno v:
Clinical Genetics. 85:138-146
RASopathies are a class of genetic syndromes caused by germline mutations in genes encoding Ras/mitogen-activated protein kinase (Ras/MAPK) pathway components. Cardio-facio-cutaneous (CFC) syndrome is a RASopathy characterized by distinctive craniofa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6b1b865bea55f96cf79ba27377c1fd4c
https://doi.org/10.1111/cge.12116
https://doi.org/10.1111/cge.12116
Autor:
M J M, Nowaczyk, B A, Thompson, S, Zeesman, U, Moog, P A, Sanchez-Lara, P L, Magoulas, R E, Falk, J E, Hoover-Fong, D A S, Batista, S M, Amudhavalli, S M, White, G E, Graham, K A, Rauen
Publikováno v:
Clinical genetics. 85(2)
RASopathies are a class of genetic syndromes caused by germline mutations in genes encoding Ras/mitogen-activated protein kinase (Ras/MAPK) pathway components. Cardio-facio-cutaneous (CFC) syndrome is a RASopathy characterized by distinctive craniofa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::71e4a41c0e4ca0e3a0e089d0b858d428
https://pubmed.ncbi.nlm.nih.gov/23379592
https://pubmed.ncbi.nlm.nih.gov/23379592
Publikováno v:
Cancer Investigation. 12:176-188
Pelvic recurrence following curative resection for colorectal carcinoma continues to pose a challenge to the oncologist despite current multimodality therapy. Pelvic exenteration with or without sacral resection may provide long-term disease-free sur
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::556100dc8b8fde8ba3663828bc8c80e7
https://doi.org/10.3109/07357909409024873
https://doi.org/10.3109/07357909409024873
Publikováno v:
American Journal of Medical Genetics. 42:29-34
Several "progeroid" syndromes have now been identified. The De Barsy syndrome is an autosomal recessive syndrome of dwarfism, mental deficiency, an "aged" appearance at birth, abnormal elastic fibers on skin biopsy, and lax skin, large helices, eye a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a770609561ac12edacdbe4def9b74695
https://doi.org/10.1002/ajmg.1320420108
https://doi.org/10.1002/ajmg.1320420108
Publikováno v:
European Journal of Pediatrics. 156:661-663
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3bf86c433639dbcc5105383beb2b9b84
https://doi.org/10.1007/s004310050687
https://doi.org/10.1007/s004310050687
Publikováno v:
Ophthalmic genetics. 21(1)
To illustrate a good visual outcome following penetrating keratoplasty in a patient with Sly disease, a rare mucopolysaccharidosis (MPS) caused by a deficiency of beta-glucuronidase.A 15-year-old male with progressive bilateral corneal opacification
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::6480fb37aef17a259dcfffec4250668d
https://pubmed.ncbi.nlm.nih.gov/10779845
https://pubmed.ncbi.nlm.nih.gov/10779845
Autor:
W T, Hsu, D A, Shchepin, R, Mao, E, Berry-Kravis, A P, Garber, N, Fischel-Ghodsian, R E, Falk, D E, Carlson, E R, Roeder, E A, Leeth, M J, Hajianpour, J C, Wang, L S, Rosenblum-Vos, S D, Bhatt, E M, Karson, C H, Hux, C, Trunca, M G, Bialer, S K, Linn, R R, Schreck
Publikováno v:
American journal of medical genetics. 80(5)
Trisomy 16, once thought to result uniformly in early pregnancy loss, has been detected in chorionic villus samples (CVS) from on-going pregnancies and was initially ascribed to a second, nonviable pregnancy. Prenatally detected trisomy 16 in CVS and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b5a2f73a86d21a0eebf9fd2541b2f6af
https://pubmed.ncbi.nlm.nih.gov/9880211
https://pubmed.ncbi.nlm.nih.gov/9880211
Autor:
D J, Wilkin, G R, Mortier, C L, Johnson, M C, Jones, A, de Paepe, M, Shohat, R S, Wildin, R E, Falk, D H, Cohn
Publikováno v:
American journal of medical genetics. 80(2)
The clinical findings of eight families with Stickler syndrome were analyzed and compared with the results of linkage studies using a marker for the type II collagen gene (COL2A1). In six families, there was linkage of the phenotype to COL2A1. The ma
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::1ab371f50bb1fd271b14e70b84b19ab0
https://pubmed.ncbi.nlm.nih.gov/9805127
https://pubmed.ncbi.nlm.nih.gov/9805127
Autor:
F L, Moffat, R E, Falk
Publikováno v:
Recent results in cancer research. Fortschritte der Krebsforschung. Progres dans les recherches sur le cancer. 146
In a small proportion of patients with extensive primary or locally recurrent rectal cancer, disease remains confined to the pelvis for a prolonged period. Symptoms are highly prejudicial to quality of life and often refractory to treatment short of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::88cc033df1cd15af820acfc32309439c
https://pubmed.ncbi.nlm.nih.gov/9670251
https://pubmed.ncbi.nlm.nih.gov/9670251
Autor:
F L, Moffat, T, Han, Z M, Li, M D, Peck, R E, Falk, P B, Spalding, W, Jy, Y S, Ahn, A J, Chu, L Y, Bourguignon
Publikováno v:
Journal of cellular physiology. 168(3)
The leukocyte CD44 and CD45 cell surface receptors are associated via the linker proteins ankyrin and fodrin with the cytoskeleton, which itself is important in immune cell functions such as adherence, chemotaxis, and phagocytosis. The effects of rat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::7247b9819ec65ca84cfc554020b22b99
https://pubmed.ncbi.nlm.nih.gov/8816918
https://pubmed.ncbi.nlm.nih.gov/8816918