Zobrazeno 1 - 10
of 106
pro vyhledávání: '"M C Phelan"'
Autor:
C. G. Palmer, F. Elder, J. T. Lanman, S. Schwartz, Mark J. Pettenati, M. D. Higgins, Elisabeth A. Keitges, J. Brown, Kathleen W. Rao, F. Grass, R. R. Higgins, M. G. Butler, D. L. Van Dyke, Colleen Jackson-Cook, P. N. Rao, J. L. Smith, P. Cosper, A. J. Carroll, M. C. Phelan, F.W. Luthardt
Publikováno v:
American Journal of Medical Genetics. 55:171-187
We present a large review of 446 cases of paracentric inversions (PAI), including 120 new cases, to assess their incidence, distribution, inheritance, modes of ascertainment, interchromosomal effects, viable recombinant offspring, and clinical releva
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ad6689bada096de7e20dfc060bea522
https://doi.org/10.1002/ajmg.1320550207
https://doi.org/10.1002/ajmg.1320550207
Autor:
Bofulin, Martina1 martina.bofulin@zrc-sazu.si
Publikováno v:
Two Homelands / Dve Domovini. 2024, Vol. 60, p69-89. 21p.
Publikováno v:
American Journal of Medical Genetics. 47:482-486
We evaluated 10 patients with an inverted tandem duplication of 8p. Inverted duplications of chromosome 8 have been reported infrequently, and no syndrome has been previously identified. All 8 patients on whom birth histories were available were hypo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::00796f99de9fbbfd6fa071b426a82256
https://doi.org/10.1002/ajmg.1320470410
https://doi.org/10.1002/ajmg.1320470410
Autor:
M C, Phelan, R C, Rogers, R A, Saul, G A, Stapleton, K, Sweet, H, McDermid, S R, Shaw, J, Claytor, J, Willis, D P, Kelly
Publikováno v:
American journal of medical genetics. 101(2)
We have recently collected clinical information on 37 individuals with deletion of 22q13 and compared the features of these individuals with 24 previously reported cases. The features most frequently associated with this deletion are global developme
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::3535c0be5f57a7bd4260d71707a6ae4b
https://pubmed.ncbi.nlm.nih.gov/11391650
https://pubmed.ncbi.nlm.nih.gov/11391650
Autor:
C C, Glenn, G, Deng, R C, Michaelis, J, Tarleton, M C, Phelan, L, Surh, T P, Yang, D J, Driscoll
Publikováno v:
Prenatal diagnosis. 20(4)
The Angelman (AS) and Prader-Willi syndromes (PWS) are clinically distinct neurobehavioural syndromes resulting from loss of maternal (AS) or paternal contributions (PWS) of imprinted genes within the chromosomal 15q11-q13 region. The molecular diagn
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::89a5426e0506f7d804b45a47958bf2d1
https://pubmed.ncbi.nlm.nih.gov/10740202
https://pubmed.ncbi.nlm.nih.gov/10740202
Autor:
M C, Phelan, W, Blackburn, R C, Rogers, E C, Crawford, N R, Cooley, E, Schrock, Y, Ning, T, Ried
Publikováno v:
Prenatal diagnosis. 18(11)
We report the prenatal diagnosis of an apparently balanced de novo complex chromosome rearrangement (CCR) which involved nine breakpoints on four different chromosomes. Fluorescence in situ hybridization (FISH) and spectral karyotyping (SKY) were per
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::320e7bca68655efcca948326e4db8b93
https://pubmed.ncbi.nlm.nih.gov/9854728
https://pubmed.ncbi.nlm.nih.gov/9854728
Autor:
R J, Schroer, M C, Phelan, R C, Michaelis, E C, Crawford, S A, Skinner, M, Cuccaro, R J, Simensen, J, Bishop, C, Skinner, D, Fender, R E, Stevenson
Publikováno v:
American journal of medical genetics. 76(4)
Of the chronic mental disabilities of childhood, autism is causally least well understood. The former view that autism was rooted in exposure to humorless and perfectionistic parenting has given way to the notion that genetic influences are dominant
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::7823550309cb2652d6e79ba60bd265c3
https://pubmed.ncbi.nlm.nih.gov/9545097
https://pubmed.ncbi.nlm.nih.gov/9545097
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
Publikováno v:
American journal of medical genetics. 71(3)
We describe a patient with Hirschsprung disease and autism. High-resolution karyotyping indicated that the patient has an interstitial deletion of 20p11.22-p11.23. Microsatellite analysis showed a deletion involving a 5-6 cM region from the maternall
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a7817619ed9d7656e73405d80cdb8fdc
https://pubmed.ncbi.nlm.nih.gov/9268100
https://pubmed.ncbi.nlm.nih.gov/9268100
Publikováno v:
Pediatric research. 41(2)
The dipeptides carnosine and anserine, found exclusively in meats, are hydrolyzed in serum by the enzyme carnosinase. Several reports of serum carnosinase deficiency describe a variable phenotype, which ranges from normal to severe psychomotor retard
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c85a81f41f49f4e00e0790d4855e6078
https://pubmed.ncbi.nlm.nih.gov/9029640
https://pubmed.ncbi.nlm.nih.gov/9029640