Zobrazeno 1 - 10
of 61
pro vyhledávání: '"U, Hillig"'
Publikováno v:
Monatsschrift Kinderheilkunde. 150:58-61
Fallbericht. Es wird von einer 18 Monate alten Patientin berichtet, die nach einer unklaren, dilatativen Kardiomyopathie in der Neugeborenenperiode im weiteren Verlauf mit Photophobie, Nystagmus und ausgepragter Adipositas auffiel. Da diese Symptomat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::497f692f1b1e35cc4f59b00783cadff5
https://doi.org/10.1007/s112-002-8181-y
https://doi.org/10.1007/s112-002-8181-y
Publikováno v:
European Journal of Human Genetics. 8:167-173
Accumulating evidence suggests that haploinsufficiency of a dosage-sensitive gene(s) in human chromosome 9p24.3 is responsible for the failure of testicular development and feminisation in XY patients with monosomy for 9p. We have used molecular cyto
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1299810a42e1a22cc8a7a71efefcb903
https://doi.org/10.1038/sj.ejhg.5200431
https://doi.org/10.1038/sj.ejhg.5200431
Autor:
T Vanessen, Peter Meinecke, Renata Rizzo, L Pfeiffer, J. J. P. Schrander, Nicole Philip, G Wilson, Alain Verloes, Constance T.R.M. Schrander-Stumpel, [No Value] Vanderburgt, Sigrid Tinschert, U Hillig, Rainer König, Gabriele Gillessen-Kaesbach, J. P. Fryns, Hubert Journel, E Latta, A Maatkievit
Publikováno v:
European Journal of Pediatrics, 153(6), 438-445. SPRINGER
The Kabuki (Niikawa-Kuroki) syndrome was reported in 1981 by Niikawa et al. [19] and Kuroki et al. [15] in a total of ten unrelated Japanese children with a characteristic array of multiple congenital anomalies and mental retardation. The syndrome is
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::69c638a1425a8f6044e68871ca2d11f0
https://pubmed.ncbi.nlm.nih.gov/8088300
https://pubmed.ncbi.nlm.nih.gov/8088300
Publikováno v:
Zeitschrift fur Kinder- und Jugendpsychiatrie. 20(2)
The fragile X or Martin-Bell syndrome is the second most common chromosomal cause of mental retardation. It has a prevalence of 1:1000; the clinical and psychopathologic symptoms vary. The difficult diagnosis rests on cytogenetic evidence of the frag
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::f7ad236d58a029db1e8f2fc6c282b17c
https://pubmed.ncbi.nlm.nih.gov/1509819
https://pubmed.ncbi.nlm.nih.gov/1509819
Autor:
A, von Gontard, U, Hillig
Publikováno v:
Zeitschrift fur Kinder- und Jugendpsychiatrie. 20(1)
A mother's experiencing of the development of her son with "XYY syndrome" is presented based on notes from the mother's diary. According to recent findings in unselected longitudinal studies the boy clearly belonged to a subgroup of the more severely
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::d760d64f811fa7d10f52e1fb9a24762e
https://pubmed.ncbi.nlm.nih.gov/1374989
https://pubmed.ncbi.nlm.nih.gov/1374989
Autor:
U, Hillig
Publikováno v:
Fortschritte der Kieferorthopadie. 52(4)
This article presents a survey of the currently used classification of primary and secondary cleft formations especially from the gentic view. In connection with frequency data a clear distinction is required for the terms: incidence, prevalence and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::ade9a4ea6089b5622a671316e6b09731
https://pubmed.ncbi.nlm.nih.gov/1937318
https://pubmed.ncbi.nlm.nih.gov/1937318
Publikováno v:
Deutsche medizinische Wochenschrift (1946). 116(7)
A 25-year old male, with a 3-year history of spastic paraparesis and a disturbance of bladder emptying, developed Addison's disease (plasma ACTH 1250 pg/ml, depressed cortisol values with loss of diurnal rhythm, potassium 6.8 mmol/l, sodium 123 mmol/
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::f32c43019c21100d0b5bdc35c5b62215
https://pubmed.ncbi.nlm.nih.gov/1993440
https://pubmed.ncbi.nlm.nih.gov/1993440
Autor:
M. Gramse, Klaus Havemann, H. G. Benkmann, R. Rauskolb, U. Hillig, S. L. Roth, R. Keitzer, H. W. Goedde, G. A. Martini, G. Hug, E. Latta
Publikováno v:
Klinische Wochenschrift. 58:617-624
Bei der Mutter eines an juveniler Leberzirrhose bei Alpha-1-Antitrypsinmangel erkrankten Kindes wurde in ihrer erneuten Schwangerschaft der fetale Phanotyp Pi MZ durch Isoelektrofokussierung des Fruchtwassers festgestellt. Die quantitativen Werte des
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7d586af0129f30e8673c1973110b0016
https://doi.org/10.1007/bf01477837
https://doi.org/10.1007/bf01477837
Publikováno v:
Uspekhi Fizicheskih Nauk. 91:691-719
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::08e417cf1583b2b25dabd1807aa05bfa
https://doi.org/10.3367/ufnr.0091.196704e.0691
https://doi.org/10.3367/ufnr.0091.196704e.0691
Publikováno v:
Journal of inherited metabolic disease. 3(3)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b0f4aac9e562ad6cd4993763f382718c
https://pubmed.ncbi.nlm.nih.gov/6775145
https://pubmed.ncbi.nlm.nih.gov/6775145