Zobrazeno 1 - 10
of 19
pro vyhledávání: '"B R, Korf"'
Autor:
A E, Lin, P H, Birch, B R, Korf, R, Tenconi, M, Niimura, M, Poyhonen, K, Armfield Uhas, M, Sigorini, R, Virdis, C, Romano, E, Bonioli, P, Wolkenstein, E K, Pivnick, M, Lawrence, J M, Friedman
Publikováno v:
American journal of medical genetics. 95(2)
Although it is well recognized that a peripheral vasculopathy may occur in patients with neurofibromatosis 1 (NF1), it is unclear whether cardiovascular abnormalities are more common. We reviewed the frequency of cardiovascular abnormalities, in part
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::ebbbbbc330fef89e339e453f12332e64
https://pubmed.ncbi.nlm.nih.gov/11078559
https://pubmed.ncbi.nlm.nih.gov/11078559
Autor:
B R, Korf
Publikováno v:
Postgraduate medicine. 108(3)
The sequence of the human genome is very nearly in hand; the first draft has been completed, and the finished sequence will be available years ahead of schedule. Already, advances in medical genetics have affected the day-to-day practice of medicine
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::619da2df97aa7d5037c11e65a7ee065c
https://pubmed.ncbi.nlm.nih.gov/11004932
https://pubmed.ncbi.nlm.nih.gov/11004932
Publikováno v:
American journal of medical genetics. 94(1)
We report on a pair of monozygotic twins with Fryns syndrome discordant for severity of diaphragmatic defect. Both twins had macrocephaly, "coarse" facial appearance, hypoplasia of distal phalanges, and an extra pair of ribs. Twin A lacked an apparen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a52b239a18f73b131af39a8033d8750e
https://pubmed.ncbi.nlm.nih.gov/11484214
https://pubmed.ncbi.nlm.nih.gov/11484214
Autor:
B R, Korf
Publikováno v:
American journal of medical genetics. 89(1)
Plexiform neurofibromas are among the most common and debilitating complications of neurofibromatosis type 1 (NF1). They account for substantial morbidity, including disfigurement, functional impairment, and may even be life threatening. Plexiform ne
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::e31358d7f89aa342e13a240dd7f0cf7e
https://pubmed.ncbi.nlm.nih.gov/10469434
https://pubmed.ncbi.nlm.nih.gov/10469434
Autor:
B R, Korf
Publikováno v:
Seminars in nephrology. 19(4)
The Human Genome Project is rapidly producing insights into the molecular basis of human genetic disorders. The most immediate clinical benefit is the advent of new diagnostic methods. Molecular diagnostic tools are available for several genetic rena
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::95b11dfac20eebeed62a2a0bd9dbebab
https://pubmed.ncbi.nlm.nih.gov/10435670
https://pubmed.ncbi.nlm.nih.gov/10435670
Autor:
D A, Stevenson, P H, Birch, J M, Friedman, D H, Viskochil, P, Balestrazzi, S, Boni, A, Buske, B R, Korf, M, Niimura, E K, Pivnick, E K, Schorry, M P, Short, R, Tenconi, J H, Tonsgard, J C, Carey
Publikováno v:
American journal of medical genetics. 84(5)
Five percent of individuals with neurofibromatosis type 1 (NF1) present with congenital long bone pseudarthrosis (PA). In large series, 50-80% of patients with congenital long bone PA also have NF1. Very little information exists on the natural histo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::3bd50bbdab402cdc26864c0302147e5f
https://pubmed.ncbi.nlm.nih.gov/10360395
https://pubmed.ncbi.nlm.nih.gov/10360395
Publikováno v:
American journal of medical genetics. 76(4)
We describe a newborn male with minor facial anomalies, pyloric stenosis, and a chromosome rearrangement that involves deletion and addition of material at 9p24.3. Routine studies showed a 46, XY, add (9) (p24) karyotype. Fluorescence in situ hybridi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::de0df20a07e28c771ebe37584feaf173
https://pubmed.ncbi.nlm.nih.gov/9545094
https://pubmed.ncbi.nlm.nih.gov/9545094
Autor:
B R, Korf
Publikováno v:
Current opinion in neurology. 10(2)
Neurofibromatosis 1, neurofibromatosis 2, and tuberous sclerosis are a set of dominantly transmitted disorders that have in common the tendency towards formation of tumors of the nervous system and other tissues. The genes for neurofibromatosis 1, ne
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::181637a67a733d665387aece407e4f66
https://pubmed.ncbi.nlm.nih.gov/9146993
https://pubmed.ncbi.nlm.nih.gov/9146993
Publikováno v:
American journal of medical genetics. 69(1)
We identified a father and son with neurofibromatosis type 1 (NF1) due to a deletion of the entire NF1 gene detected by fluorescence in situ hybridization (FISH). As is the case for others reported to have such large deletions, father and son had sev
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::2c9e5f607e7e4bc6a0c7afbf8f8eb660
https://pubmed.ncbi.nlm.nih.gov/9066892
https://pubmed.ncbi.nlm.nih.gov/9066892
Publikováno v:
American journal of medical genetics. 67(2)
We compared neurobehavioral profiles of 10 children with neurofibromatosis 1 (NF-1) referred for evaluation of learning disabilities (NF/LD) to those to learning disabled children without known genetic disease (LD), matched for age, sex, and estimate
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::cd92dc6a8923f7734c5c4daad2369d3a
https://pubmed.ncbi.nlm.nih.gov/8723038
https://pubmed.ncbi.nlm.nih.gov/8723038