Zobrazeno 1 - 8
of 8
pro vyhledávání: '"E K, Pivnick"'
Publikováno v:
Case Reports in Otolaryngology, Vol 2013 (2013)
Gorlin Syndrome (GS), also known as nevoid basal cell carcinoma syndrome, is a rare autosomal dominant condition characterized by developmental abnormalities and predisposition to certain neoplasms. Acute invasive fungal rhinosinusitis (AIFRS) is an
Externí odkaz:
https://doaj.org/article/e24081a5deb54a7e83f952f129581f29
Autor:
Jerome W. Thompson, S. T. Donovan, John T. Sandlund, J. H. Harreld, E. E. Adderson, E. K. Pivnick
Publikováno v:
Case Reports in Otolaryngology
Case Reports in Otolaryngology, Vol 2013 (2013)
Case Reports in Otolaryngology, Vol 2013 (2013)
Gorlin Syndrome (GS), also known as nevoid basal cell carcinoma syndrome, is a rare autosomal dominant condition characterized by developmental abnormalities and predisposition to certain neoplasms. Acute invasive fungal rhinosinusitis (AIFRS) is an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f870ed179c0a8305cb2a9b295072f13f
https://doi.org/10.1155/2013/272314
https://doi.org/10.1155/2013/272314
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:
E K, Pivnick, B, Angle, R A, Kaufman, B D, Hall, P, Pitukcheewanont, J H, Hersh, J L, Fowlkes, L P, Sanders, J M, O'Brien, G S, Carroll, W M, Gunther, H G, Morrow, G A, Burghen, J C, Ward
Publikováno v:
American journal of medical genetics. 90(2)
The neonatal progeroid syndrome (NPS), or Wiedemann-Rautenstrauch, is a rare autosomal recessive disorder comprised of generalized lipoatrophy except for fat pads in the suprabuttock areas, hypotrichosis of the scalp hair, eyebrows, and eyelashes, re
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::da8b1cd942be3ad2750f1d6addf42130
https://pubmed.ncbi.nlm.nih.gov/10607952
https://pubmed.ncbi.nlm.nih.gov/10607952
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:
Clinical genetics. 55(3)
This report expands on a study by Pryor [Pryor HB. Objective measurement of interpupillary distance. Pediatrics 1969: 44: 973 977] that related normal values of inner canthal distance (ICD), outer canthal distance (OCD) and interpupillary distance (I
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b30521d1007df0b907f4a6244eb8201e
https://pubmed.ncbi.nlm.nih.gov/10334472
https://pubmed.ncbi.nlm.nih.gov/10334472
Publikováno v:
Teratology. 58(5)
An infant presented with multiple congenital anomalies including a midline thoracoabdominal defect, absence of the sternum, ectopia cordis, right diaphragmatic hernia, right anophthalmia, left microphthalmia, incomplete bilateral cleft lip, and vario
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::91f6af96e89f86fdd53e3562ac834a51
https://pubmed.ncbi.nlm.nih.gov/9839359
https://pubmed.ncbi.nlm.nih.gov/9839359
Autor:
R C, Michaelis, G V, Velagaleti, C, Jones, E K, Pivnick, M C, Phelan, E, Boyd, J, Tarleton, R S, Wilroy, A, Tunnacliffe, A T, Tharapel
Publikováno v:
American journal of medical genetics. 76(3)
Recent studies have identified a (CCG)n repeat in the 5' untranslated region of the CBL2 protooncogene (11q23.3) and have demonstrated that expansion of this repeat causes expression of the folate-sensitive fragile site FRA11B. It has also been demon
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::64c6b2597dfa00e3ed273f2636732de7
https://pubmed.ncbi.nlm.nih.gov/9508241
https://pubmed.ncbi.nlm.nih.gov/9508241