Zobrazeno 1 - 10
of 10
pro vyhledávání: '"S D Flatz"'
Publikováno v:
Clinical Genetics. 11:235-240
A 45, X/46,XY mosaicism was found in a male infant with stigmata of Turner's syndrome but normal male external genitalia. In contrast to the Y chromosome of his father, the Y chromosome of the patient does not display either the characteristic brilli
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af56a429c345a37d20205162a89d0b56
https://doi.org/10.1111/j.1399-0004.1977.tb01306.x
https://doi.org/10.1111/j.1399-0004.1977.tb01306.x
Publikováno v:
European Journal of Pediatrics. 141:183-185
We report two patients with Opitz trigonocephaly syndrome. Both children showed the pattern of abnormal findings characteristic of this syndrome, including trigonocephaly, upslanted palpebral fissures, inner epicanthic folds, broad alveolar ridges, s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f4d472e4e1d11db8242e2b02cf2481d
https://doi.org/10.1007/bf00443223
https://doi.org/10.1007/bf00443223
Autor:
C, Fonatsch, S D, Flatz
Publikováno v:
Wiener klinische Wochenschrift. 94(8)
In males affected by a special form of X-linked mental retardation a characteristic chromosomal abnormality can be demonstrated, - i.e. a fragile site on the long arm of the X chromosome, fra(X) (q27 or 28) (marker-X chromosome). Male carriers are ph
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::058f22c58bc109c5b35f88e7730d8054
https://pubmed.ncbi.nlm.nih.gov/7101956
https://pubmed.ncbi.nlm.nih.gov/7101956
Publikováno v:
Journal of pediatric gastroenterology and nutrition. 4(6)
Pulmonary excretion of hydrogen and methane after administration of an unabsorbable disaccharide (lactulose) was determined in 228 adult Hungarian twins, 60 monozygous (MZ) and 54 dizygous (DZ) pairs. More than 98% of the subjects (224 of 228) excret
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::42b165630ecd3ada9e74133e6752b713
https://pubmed.ncbi.nlm.nih.gov/4067782
https://pubmed.ncbi.nlm.nih.gov/4067782
A total of 308 healthy Italian adults (192 females, 116 males; mean age 29.2 yr) were examined using a field version of the lactose tolerance test with breath hydrogen determination. Two geographical groups were formed according to the birth places o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a83f58ae83831e9a1f3158bb71df9bb5
http://hdl.handle.net/2318/31276
http://hdl.handle.net/2318/31276
Publikováno v:
Annals of human biology. 11(4)
Lactose-absorption capacity was examined in 275 apparently healthy Polish adolescents and adults (214 females and 61 males with an average age of 29.1 years) using a field version of the lactose-tolerance test with breath hydrogen determination. In t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5fe005b4896eb4025bf428978b008dfa
https://pubmed.ncbi.nlm.nih.gov/6465837
https://pubmed.ncbi.nlm.nih.gov/6465837
Publikováno v:
Annales de genetique. 31(4)
The frequency of deletional types of alpha-thalassemias in the Khmer population of Kampuchea (Cambodia) was estimated using DNA techniques. Among 58 healthy adult Kampucheans from rural areas, 17 had alpha-globin gene anomalies. There were 14 heteroz
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::88db3a72398c9f4ca19033bc9aa4e15c
https://pubmed.ncbi.nlm.nih.gov/3265303
https://pubmed.ncbi.nlm.nih.gov/3265303
Autor:
S D, Flatz, J, Natzschka
Publikováno v:
Klinische Padiatrie. 190(6)
A Female infant is described with marked acceleration of her osseous maturation, unusual facial features, hypotonia and hypertrichosis. She was in respiratory distress and had feeding problems. She died at the age of 18 days.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::ca7988fd13e14df4ea10d69e8e43862f
https://pubmed.ncbi.nlm.nih.gov/568687
https://pubmed.ncbi.nlm.nih.gov/568687
Publikováno v:
Scopus-Elsevier
Lactose tolerance tests with breath hydrogen determination were performed on 585 apparently healthy adolescents and adults in the Democratic Republic of the Sudan. Out of the total, 303 probands belong to the tribal group Beja, traditional nomadic pa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e3bc7f183a459756f2efa2f05021798
https://pubmed.ncbi.nlm.nih.gov/6810704
https://pubmed.ncbi.nlm.nih.gov/6810704
Publikováno v:
Gene geography : a computerized bulletin on human gene frequencies. 1(3)
The frequencies of the hemoglobin E gene (HBB*E) and the beta-thalassemia gene(s) (HBB*T) were determined in 890 healthy adult males from three areas at the Thai-Kampuchean border in Northeastern Thailand. The population of the three study areas diff
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::8f429880b5628d8abcc409cb61ecbb79
https://pubmed.ncbi.nlm.nih.gov/3154122
https://pubmed.ncbi.nlm.nih.gov/3154122