Zobrazeno 1 - 10
of 15
pro vyhledávání: '"A. J. Barnicoat"'
Publikováno v:
Health Technology Assessment, Vol 5, Iss 7 (2001)
Externí odkaz:
https://doaj.org/article/73659439e7bd4dea8c6a87ecd1e305e5
Publikováno v:
American Journal of Medical Genetics. 70:166-170
We report on two sibs with facial anomalies and developmental delay. Partial trisomy 2q was detected only after parental chromosome studies showed the father to carry a balanced interchromosomal insertion of 2 (q24.3-q32.1) into 5q.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b09dbba9e68c7fb87c72b87ca2a5bdbf
https://doi.org/10.1002/(sici)1096-8628(19970516)70:2<166::aid-ajmg12>3.0.co
https://doi.org/10.1002/(sici)1096-8628(19970516)70:2<166::aid-ajmg12>3.0.co
Autor:
G A Flynn, E. Green, A J Barnicoat, Jeremy Turk, Q Wang, Mark C. Hirst, V. J. Buckle, Martin Bobrow, Kay E. Davies, Christopher G. Mathew
Publikováno v:
Scopus-Elsevier
The probe StB12.3 has been used to screen the FMR-1 gene in 42 pedigrees with a distal Xq fragile site for expansion of the CCG repeat and aberrant methylation of the FRAXA locus. Four families did not have a FRAXA mutation and were investigated furt
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3fa16357f7aff0ad9bcebe550cd102d0
https://doi.org/10.1136/jmg.34.1.13
https://doi.org/10.1136/jmg.34.1.13
Publikováno v:
International Journal of Thermophysics. 17:1151-1161
Data on the physical properties of alloys at high temperatures are urgently needed for the mathematical modeling of high-temperature processes such as casting, welding, secondary refining, dip melting, spray forming, and metal powder production. Data
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e03f9d615de16c86a5f3878f02a5168c
https://doi.org/10.1007/bf01442002
https://doi.org/10.1007/bf01442002
Autor:
S. Youings, J. Tarrelton, Joanne Dixon, D. Broome, Stephanie L. Sherman, G. Filippi, Randi J Hagerman, G. S. Pai, J. L. Meyer, Karl-Henrik Gustavson, S. A. M. Taylor, E. C. Jenkins, A. P. T. Smits, Anne Maddalena, Lawrence R. Shapiro, Tessa Webb, M. Grasso, C. E. Schwartz, W. T. Brown, P A Jacobs, Sarah L. Nolin, Ingo Kennerknecht, Patricia N. Howard-Peebles, Francisco Martínez, A. J. Barnicoat, Patrick Ferreira, Louise W. Staley, Hazel Robinson, Gotthold Barbi, Peter Steinbach, B.A. van Oost, Athel Hockey
Publikováno v:
American Journal of Medical Genetics. 51:503-506
The Prospective Study of the Fragile X Syndrome is a large collaborative effort designed to collect prospective data on the pregnancy outcomes of individuals who carry the fragile X mutation. The goal of this 5-year study is to obtain empiric recurre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::17957294560ea78e0e53c54c4af58efa
https://doi.org/10.1002/ajmg.1320510442
https://doi.org/10.1002/ajmg.1320510442
Publikováno v:
Health Technology Assessment, Vol 5, Iss 7 (2001)
Background Fragile X syndrome is an inherited form of learning disability that was defined in the late 1970s by cytogenetic detection of an associated fragile site on the X chromosome (Xq27.3). Cytogenetic estimates of the prevalence of fragile X syn
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d6870a2d5fd9231ae8fef94b3c4f71d
https://doaj.org/article/73659439e7bd4dea8c6a87ecd1e305e5
https://doaj.org/article/73659439e7bd4dea8c6a87ecd1e305e5
Autor:
D. T. Pilz, Mary D. King, Z. Docherty, Maurice Super, S. McManus, J. L. Huret, S.J. Fennell, E. Boyd, A. J. Barnicoat, E. Shafei-Benaissa, John Tolmie, J. L. Bonneau, E. L. Maltby
Publikováno v:
Clinical genetics. 49(1)
We report on the clinical and cytogenetic assessment of five cases of Down syndrome phenotype with either a partial duplication of chromosome 21 or a normal karyotype, and we quote a case of del (21q) syndrome. Down syndromes with a partial duplicati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f62a58984508a8b7780faa8d1885cf2
https://pubmed.ncbi.nlm.nih.gov/8721567
https://pubmed.ncbi.nlm.nih.gov/8721567
Publikováno v:
Clinical dysmorphology. 3(4)
A male fetus with multiple congenital abnormalities is reported. The parents of the fetus are consanguineous. There were unusual facial features, digital anomalies, cleft palate, a malformed tongue that prevented swallowing, absent clavicles and geni
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::1ee9caa9b62f5d5bcdcd63a765b65ddc
https://pubmed.ncbi.nlm.nih.gov/7894742
https://pubmed.ncbi.nlm.nih.gov/7894742
Publikováno v:
Developmental medicine and child neurology. 35(6)
SUMMARY A four-year retrospective survey of individuals referred for fragile X testing to South East Thames Regional Genetics Service was carried out to determine the accuracy of clinical diagnosis of fragile X syndrome among routine referrals for cy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::034795c19d7a6db0fee7bcd469fea853
https://pubmed.ncbi.nlm.nih.gov/7684989
https://pubmed.ncbi.nlm.nih.gov/7684989
Publikováno v:
Journal of Medical Genetics. 32:757-758
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a5d89e00ae48c1330b55f644aaee0fa
https://doi.org/10.1136/jmg.32.9.757
https://doi.org/10.1136/jmg.32.9.757