Výsledky vyhledávání - "(Fragile) breakage-prone sites in human chromosomes"

Genetic variation in ICF syndrome: Evidence for genetic heterogeneity

Autor: Jacques J. M. van Dongen, Bernd H. Belohradsky, Cisca Wijmenga, Dominique Smeets, David Valentine, Peter L. Pearson, Lambert P. van den Heuvel, Erik Björck, Eric Strengman, R. Scott Hansen, Corry M.R. Weemaes, J.A.F.M. Luyten, Giorgio Gimelli, E. Graham Davies

Publikováno v: Human Mutation, 16, 509-517
Human Mutation, 16, 6, pp. 509-517

ICF syndrome is a rare autosomal recessive immunoglobulin deficiency, sometimes combined with defective cellular immunity. Other features that are frequently observed in ICF syndrome patients include facial dysmorphism, developmental delay, and recur

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cf26cf706b5ca335b92e6abc91d9bc30
https://doi.org/10.1002/1098-1004(200012)16:6<509::aid-humu8>3.0.co

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Fine localization of the Nijmegen Breakage Syndrome gene at 8q21: Evidence for a common founder haplotype

Autor: A. Malcolm R. Taylor, Pamela S. Karnes, Karen M. Cerosaletti, Michael Boehnke, Patrick Concannon, Kenshi Komatsu, Dominique Smeets, Heather M. Stringham, Richard A. Gatti, Ethan M. Lange, B. Sölder, Bernd H. Belohradsky, Alison M. Elliott, Corry M.R. Weemaes

Publikováno v: American Journal of Human Genetics, 63, 125-135
American Journal of Human Genetics, 63, pp. 125-135

Summary Nijmegen breakage syndrome (NBS) is a rare autosomal recessive disorder characterized by microcephaly, a birdlike face, growth retardation, immunodeficiency, lack of secondary sex characteristics in females, and increased incidence of lymphoi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8145020406e55c1095e49a75e8c72f49
https://doi.org/10.1086/301927

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Localisation of the gene for a dominant congenital spinal muscular atrophy predominantly affecting the lower limbs to chromosome 12q23-q24l

Autor: A.J.W. van der Vleuten, C.J.M. Frijns, George W. Padberg, G. Hageman, Arie P. T. Smits, Hannie Kremer, C.M.A. van Ravenswaaij-Arts

Publikováno v: European Journal of Human Genetics, 6, 4, pp. 376-382
European Journal of Human Genetics, 376-382
STARTPAGE=376;ENDPAGE=382;ISSN=1018-4813;TITLE=European Journal of Human Genetics
European Journal of Human Genetics, 6, 376-382
European Journal of Human Genetics, 6, pp. 376-382

Spinal muscular atrophies are a heterogeneous group of disorders. They differ in time of onset, clinical presentation, progression, severity and mode of inheritance. In 1985 a Dutch family was described with a dominant, non-progressive spinal muscula

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d3cb8c9555d0ebe4015e3a387d3f396
https://doi.org/10.1038/sj.ejhg.5200229

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MISINTERPRETATION OF TRISOMY 18 AS A PSEUDOMOSAICISM AT THIRD-TRIMESTER AMNIOCENTESIS OF A CHILD WITH A MOSAIC 46,XY/47,XY,+3/48,XXY,+18 KARYOTYPE

Autor: J.G. Nijhuis, Joep H. A. M. Tuerlings, Dominique Smeets, C.M.A. van Ravenswaaij-Arts, J.P. Niehof, A.F.J. van Heyst

Publikováno v: Prenatal Diagnosis, 17, pp. 375-379
Prenatal Diagnosis, 17, 375-379

False-negative trisomy 18 has been reported after chorionic villus sampling, but not after amniocentesis. We describe a double aneuploidy in cultured amniocytes that was initially misinterpreted as a pseudomosaicism. A patient was referred at 31 week

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a8bbc4ea526687ee16eaf708ca31366a
https://doi.org/10.1002/(sici)1097-0223(199704)17:4<375::aid-pd55>3.0.co

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Rapid antibody test for diagnosing fragile X syndrome: a validation of the technique

Autor: A. M. W. Van Den Ouweland, Arie P. T. Smits, A. de Haan, Hans Galjaard, H.M. van Beerendonk, S. Mohkamsing, Erik A. Sistermans, Ben A. Oostra, B. B. A. De Vries, Rob Willemsen

Publikováno v: Human Genetics, 99, 3, pp. 308-311
Human Genetics, 99(3), 308-311. Springer Verlag
Human Genetics, 99, 308-311. Springer-Verlag
Human Genetics, 99, 308-311
Human Genetics, 99, pp. 308-311
Willemsen, R, Smits, A, Mohkamsing, S, Van Beerendonk, H, De Haan, A, De Vries, B, Van Den Ouweland, A, Sistermans, E, Galjaard, H & Oostra, B A 1997, ' Rapid antibody test for diagnosing fragile X syndrome : A validation of the technique ', Human Genetics, vol. 99, no. 3, pp. 308-311 . https://doi.org/10.1007/s004390050363

To date, the identification of patients and carriers of the fragile X syndrome has been carried out by DNA analysis by means of the polymerase chain reaction and Southern blot analysis. This direct DNA analysis allows both the size of the CGG repeat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b1bcdfad6d292e7e9c02c17b887f38df
https://doi.org/10.1007/s004390050363

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Anesthesiologic problems in Williams syndrome : the CACNL2A locus is not involved

Autor: Isabella Mammi, Dominique Smeets, David E. Iles, Maurizio Clementi, Romano Tenconi

Publikováno v: Human Genetics, 98, pp. 317-320
Human Genetics, 98, 3, pp. 317-320
Human Genetics, 98, 317-320

We present the case of a patient affected with Williams syndrome (WS), who developed a suspected malignant hyperthermia (MH) reaction to general anesthesia. The proximity to the WS region of the gene encoding the L-type voltage-gated calcium channel

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ac9f9c38472750a0b401f4311da01f7
https://hdl.handle.net/2066/22907

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