Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Sibylle D. Flatz"'
Publikováno v:
Human genetics. 84(4)
The association of various unsystematic aneuploidies with premature centromere division (PCD) was observed in a patient with conspicuous clinical features and combined immunodeficiency. Trisomies and monosomies of almost all autosomes and gonosomal a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7bb450ed242efc7d732a40d5b1565dbc
https://pubmed.ncbi.nlm.nih.gov/2307459
https://pubmed.ncbi.nlm.nih.gov/2307459
Autor:
Loretta Ghersini, Renata Lorini, Lisa Poloni, Giorgio Gimelli, Daniela Tonetti, Diletta Peretti, Paola Maraschio, Christa Fonatsch, Orsetta Zuffardi, G. Zamboni, Sibylle D. Flatz, Franca Bernardi, Mario Loi, C. De Paoli, Mauro Bozzola, Roberta Vanni
Publikováno v:
Human Genetics. 57:345-350
Eight patients are reported with a de novo extra inverted duplicated chromosome 15. The abnormal chromosome was considered to be the same in all cases, but its precise delineation remained uncertain and was defined as either 15pter leads to 15q12::15
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af5aae3091a69e4138506e0527165a0a
https://doi.org/10.1007/bf00281681
https://doi.org/10.1007/bf00281681
Autor:
Joachim Hundrieser, Marion Laig, Sibylle D. Flatz, Gebhard Flatz, Bernt Schulze, P. Sriboonlue, N. Mularlee, R. Limberg, Puangrat Yongvanit, P. Areejitranusorn, T. Karnthong
Publikováno v:
Human Genetics. 83:171-174
DNA haplotypes (HT) and frameworks (FW) linked to the beta-globin locus were determined by restriction fragment analysis using eight restriction enzymes on chromosomes bearing the Hb A gene (HBB*A) or the HbE gene (HBB*E) in the So, an Austro-Asiatic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::07972267f46e2ac1186efd9b01d02f05
https://doi.org/10.1007/bf00286712
https://doi.org/10.1007/bf00286712
Publikováno v:
Human Genetics. 64:398-401
Lactose absorption capacity was estimated in 820 apparently healthy, well nourished, Hungarian adults and adolescents (560 females, 260 males, aged 16-54 years) using a field version of the lactose tolerance test with breath hydrogen determination. T
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae169b82c2845bd8f64ed5bf58d99305
https://doi.org/10.1007/bf00292375
https://doi.org/10.1007/bf00292375
Autor:
Sibylle D. Flatz, K. Miller
Publikováno v:
Human Genetics. 68:93-95
A family with two independent reciprocal translocations t(3;19) and t(16;22) is described. The proband, a 4-week-old male, was phenotypically conspicuous with multiple congenital anomalies. Cytogenetic examination revealed a balanced reciprocal trans
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2199f84c243e030fa57befaf6aebd973
https://doi.org/10.1007/bf00293881
https://doi.org/10.1007/bf00293881
Publikováno v:
Europe PubMed Central
Lactose absorption was studied in 570 health adolescent and adult males in Egypt. Employing a field version of the noninvasive hydrogen breath test, 156 (27.4%) lactose absorbers and 414 (72.6%) lactose malabsorbers were identified. The age-specific
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::435d410c3d0d75844e50345f4393b2e8
https://pubmed.ncbi.nlm.nih.gov/6807827
https://pubmed.ncbi.nlm.nih.gov/6807827
Publikováno v:
Humangenetik. 28(2)
A male infant is described with unusual facial appearance, clubfeet, and moderate hydrocephalus internus without obvious deficiency in mental and physical development. Cytogenetic studies revealed a karyotype of 45,XY,--C,--D,+t(C;D). A chromosome 11
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2cae59d94cce740ae9576db08f96ced3
https://pubmed.ncbi.nlm.nih.gov/1150274
https://pubmed.ncbi.nlm.nih.gov/1150274
Publikováno v:
Human genetics. 67(1)
Lactose absorption capacity was examined in 641 apparently healthy adolescents and adults (447 males and 194 females with an average age of 22.9 years and an age range of 16-46 years) using a field version of the lactose tolerance test with breath hy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f4e616bba4fa14b040c02c54e50e023
https://pubmed.ncbi.nlm.nih.gov/6235167
https://pubmed.ncbi.nlm.nih.gov/6235167
Distribution of physiological adult lactase phenotypes, lactose absorber and malabsorber, in Germany
Publikováno v:
Human genetics. 62(2)
A total of 1805 apparently healthy, adult and adolescent Germans (1572 males and 233 females with a mean age of 20.3 years) were examined for lactose absorption capacity employing a field version of the breath hydrogen (H2) test. The diagnostic param
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::060d4fe19161d08ac94f100c75d47ae0
https://pubmed.ncbi.nlm.nih.gov/6819221
https://pubmed.ncbi.nlm.nih.gov/6819221
Publikováno v:
Clinical genetics. 15(2)
The cytogenetic analysis of a 7-month-old retarded girl with clinical signs compatible with partial trisomy 13 revealed a translocation t(4;13)(q33;q14) and an additional derivative chromosome 13. This karyotype probably resulted from 3:1 segregation
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b23dc2e2911dfd3fbe9ef52b55bdbcf6
https://pubmed.ncbi.nlm.nih.gov/761418
https://pubmed.ncbi.nlm.nih.gov/761418