Zobrazeno 1 - 10
of 39
pro vyhledávání: '"H D, Hager"'
Autor:
Kirsten Schröder, Elke Back, H. D. Hager, Ulrike Thies, Traute M. Schroeder-Kurth, Gerhard Wolff
Publikováno v:
Clinical Genetics. 42:201-205
Clinical, cytogenetic and molecular studies were performed in three patients with Wolf-Hirschhorn syndrome (WHS). In all cases the altered chromosome 4 appeared to be the result of a de novo deletion. Cytogenetic investigations located the breakpoint
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::faf18332256c9afc54d3ca0bf109d7e6
https://doi.org/10.1111/j.1399-0004.1992.tb03238.x
https://doi.org/10.1111/j.1399-0004.1992.tb03238.x
Autor:
Christian Rupp, Sascha Keller, Peter Altevogt, S. Lugert, H.-D. Hager, Steffen Runz, Mina Fogel, Alexander Stoeck, Paul Gutwein, Mohamed S. Abdel-Bakky
Publikováno v:
Kidney International. 72:1095-1102
Exosomes are small membrane vesicles that are secreted from a variety of cell types into various body fluids including the blood and urine. These vesicles are thought to play a role in cell-cell interactions. CD24 is a small but extensively glycosyla
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7526ec9012c2afa220381629e3e42595
https://doi.org/10.1038/sj.ki.5002486
https://doi.org/10.1038/sj.ki.5002486
Publikováno v:
Clinical Dysmorphology. 14:51-54
Partial duplication of chromosome 6q has been recognized as a distinct dysmorphic syndrome with severe psychomotor and growth retardation, typical craniofacial features including microcephaly and microstomia, neck webbing, congenital contractures, an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::00a0c073f4ce4b22bf18897981c8b743
https://doi.org/10.1097/00019605-200501000-00013
https://doi.org/10.1097/00019605-200501000-00013
Autor:
Heidi Holtgreve-Grez, Michaela Brough, Susanne Popp, Inge Rauterberg-Ruland, Anna Jauch, Monika Keller, Gholamali Tariverdian, H. D. Hager, Brigitte Schoell, Martin Granzow
Publikováno v:
Human Genetics. 107:51-57
Cryptic rearrangements involving the terminal regions of chromosomes are suspected to be the cause of idiopathic mental retardation in a significant number of cases. This finding highlights the necessity of a primary screening test for such chromosom
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5cfa6a44b35233c374e8b112fa5ae19b
https://doi.org/10.1007/s004390000321
https://doi.org/10.1007/s004390000321
Autor:
Anne Geursen, N. Kawelke, Anke Bentmann, Norman Hackl, Peter Feick, Inaam A. Nakchbandi, H. D. Hager, Manfred V. Singer
Publikováno v:
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research. 23(8)
Osteoporosis is a major cause of morbidity and decreased quality of life in patients with chronic cholestatic liver disease. It is established that this osteoporosis results from decreased bone formation, but the mechanisms for the interaction betwee
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b51385c8c77e09c59a7bc354239e9918
https://pubmed.ncbi.nlm.nih.gov/18348696
https://pubmed.ncbi.nlm.nih.gov/18348696
Autor:
Peter H. Vogt, H. D. Hager, Paula Grigorescu-Sido, Anca Grigorescu-Sido, Markus Bettendorf, Anna Jauch, Udo Heinrich, Ileana Duncea
Publikováno v:
Journal of Pediatric Endocrinology and Metabolism. 18
Background: XX males range phenotypically from completely masculinised individuals to true hermaphrodites and include a subset of SRY negative patients. The correlation between genotype (SRY+/-) and phenotype is still unclear. Aim: To report three ne
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::427b4887c7223537fdc739b346f9a6b0
https://doi.org/10.1515/jpem.2005.18.2.197
https://doi.org/10.1515/jpem.2005.18.2.197
Autor:
Sharareh Moshir, Christiane Schiffer, Susanne Popp, Gerhard Rupprath, H. D. Hager, Elke Düngfelder, Gholamali Tariverdian, Anna Jauch
Publikováno v:
Clinical dysmorphology. 12(2)
We describe a boy with multiple congenital anomalies including a complex heart defect, club feet, adducted thumbs, and facial dysmorphic features. He died at the age of 2 months following cardiac surgery. G-banding analysis identified an abnormal chr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::379d6ad283486002af742dfccb1e61f3
https://pubmed.ncbi.nlm.nih.gov/12868477
https://pubmed.ncbi.nlm.nih.gov/12868477
Autor:
Michaela Brough, Monika Keller, Susanne Popp, Heidi Holtgreve-Grez, H. D. Hager, Lyndal Kearney, Brigitte Schoell, Birgit R. B. Schulze, Jill M. Brown, Anna Jauch, Gholamali Tariverdian, Martin Granzow
Publikováno v:
Human genetics. 111(1)
Cryptic subtelomeric chromosome rearrangements are a major cause of mild to severe mental retardation pointing out the necessity of sensitive screening techniques to detect such aberrations among affected patients. In this prospective study a group o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3112a3a238eba7ebf8bb99329716d01e
https://pubmed.ncbi.nlm.nih.gov/12136233
https://pubmed.ncbi.nlm.nih.gov/12136233
Autor:
C, Sergi, B R, Schulze, H D, Hager, B, Beedgen, E, Zilow, O, Linderkamp, H F, Otto, G, Tariverdian
Publikováno v:
Pathologica. 90(3)
A female fetus showing severe growth retardation was delivered at 31 weeks of gestation because of fetal distress. At birth, the infant showed bradycardia and no spontaneous breathing. Although high frequency oscillatory ventilation was started, seve
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::48b1b1a0f20de4a2cb56bb6854a50432
https://pubmed.ncbi.nlm.nih.gov/9774859
https://pubmed.ncbi.nlm.nih.gov/9774859
Autor:
J, Klapp, K H, Nicolaides, H D, Hager, T, Voigtländer, J, Greiner, G, Tariverdian, W D, Lehmann
Publikováno v:
Geburtshilfe und Frauenheilkunde. 50(6)
Preliminary clinical experience with early amniocentesis is reported. Fifty-two amniocenteses were performed before the end of the 14th week following the last menstrual period. Cytogenetic and biochemical analyses (AFP, AChE) were performed. Increas
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::0c672e8523d02de2907e45c866c3b7c8
https://pubmed.ncbi.nlm.nih.gov/1695882
https://pubmed.ncbi.nlm.nih.gov/1695882