Zobrazeno 1 - 9
of 9
pro vyhledávání: '"R F, Stratton"'
Autor:
William B. Dobyns, Susan H. Blanton, M. A. Patton, Hope Northrup, Joan M. Mastrobattista, R. F. Stratton
Publikováno v:
Neuropediatrics. 27:70-75
Cobblestone lissencephaly is the characteristic brain malformation observed in Fukuyama congenital muscular dystrophy (FCMD), muscle-eye-brain disease (MEB), and Walker-Warburg syndrome (WWS). The diagnostic criteria for all three require the presenc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5b939619f4831d57608c188693eacfb4
https://doi.org/10.1055/s-2007-973752
https://doi.org/10.1055/s-2007-973752
Autor:
R F, STRATTON
Publikováno v:
The Middlesex veterinarian. 5
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c08ad26f8626a59b33c58e6923781217
https://pubmed.ncbi.nlm.nih.gov/21009469
https://pubmed.ncbi.nlm.nih.gov/21009469
Publikováno v:
American Journal of Medical Genetics. 45:562-564
We report on a premature female infant with Fryns syndrome who had several less commonly reported anomalies. She had bilateral posterior eventration of the hemidiaphragms instead of the usual diaphragmatic defects with visceral herniation into the ch
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::633762e5ea96ccf6ff1bae5fd1d264cb
https://doi.org/10.1002/ajmg.1320450507
https://doi.org/10.1002/ajmg.1320450507
Autor:
J D, Cody, P D, Ghidoni, B R, DuPont, D E, Hale, S G, Hilsenbeck, R F, Stratton, D S, Hoffman, S, Muller, R L, Schaub, R J, Leach, C I, Kaye
Publikováno v:
American journal of medical genetics. 85(5)
Deletions of chromosome 18q are among the most common segmental aneusomies compatible with life. The estimated frequency is approximately 1/40,000 live births [Cody JD, Pierce JF, Brkanac Z, Plaetke R, Ghidoni PD, Kaye CI, Leach RJ. 1997. Am. J. Med.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b65faa8a5451aa67a93db93ff13899b3
https://pubmed.ncbi.nlm.nih.gov/10405442
https://pubmed.ncbi.nlm.nih.gov/10405442
Publikováno v:
American journal of medical genetics. 76(1)
We report on a second 46,XX male with microphthalmia with linear skin defects (MLS) syndrome. In addition to microphthalmia and linear skin streaks, he had a secundum ASD, hypospadias with chordee, anal fistula, and agenesis of corpus callosum with c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::8c266629d413829c958005c5cf2a71a2
https://pubmed.ncbi.nlm.nih.gov/9508062
https://pubmed.ncbi.nlm.nih.gov/9508062
Frontonasal malformation with tetralogy of Fallot associated with a submicroscopic deletion of 22q11
Autor:
R F, Stratton, R M, Payne
Publikováno v:
American journal of medical genetics. 69(3)
We report on a 14-month-old girl with bifid nasal tip and tetralogy of Fallot. Several similar patients have been described with CNS or eye abnormalities. Chromosome analysis with FISH, using Oncor DiGeorge probes, confirmed a submicroscopic deletion
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::691ac8939156ab22e4c4dae20542107d
https://pubmed.ncbi.nlm.nih.gov/9482658
https://pubmed.ncbi.nlm.nih.gov/9482658
Autor:
Julie T. Parke, R. F. Stratton, Frank Greenberg, Robert L. Nussbaum, David H. Ledbetter, William B. Dobyns
Publikováno v:
The Journal of Pediatrics. 102:552-558
Miller-Dieker syndrome, which includes lissencephaly and a characteristic phenotypic appearance, has been reported to have an autosomal recessive pattern of inheritance. However, we have found abnormalities of chromosome 17 in two of three unrelated
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd7537ad3ad6e2d50c6bd7005eb99a0b
https://doi.org/10.1016/s0022-3476(83)80183-8
https://doi.org/10.1016/s0022-3476(83)80183-8
Publikováno v:
Human Genetics. 67:193-200
The Miller-Dieker Syndrome (MDS) consists of lissencephaly, characteristic facies, pre- and postnatal growth retardation, plus various other birth defects. Autosomal recessive inheritance has been presumed based on four reported families with two or
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee42d11a9e14d624a091478cec37b91e
https://doi.org/10.1007/bf00273000
https://doi.org/10.1007/bf00273000
Autor:
Dawna L. Armstrong, C. Dan Sauls, Wm B Dobyns, R. F. Stratton, Edith Hawkins, Frank Greenberg
Publikováno v:
Journal of Neuropathology and Experimental Neurology. 43:293
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0a07c6402938cb98820f03f42018f62b
https://doi.org/10.1097/00005072-198405000-00011
https://doi.org/10.1097/00005072-198405000-00011