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Sonographically detected fetal and placental abnormalities associated with trisomy 16 confined to the placenta. A case report and review of the literature.
Astner A, Schwinger E, Caliebe A, Jonat W, Gembruch U. Astner A, et al. Among authors: caliebe a. Prenat Diagn. 1998 Dec;18(12):1308-15. Prenat Diagn. 1998. PMID: 9885025 Review.
Detailed sonography showed a thickened and enlarged placenta with multiple 'cysts', polyhydramnios, a single umbilical artery and a small ventricular septal defect (VSD). ...We speculate that the sonographic findings of multiple round placental 'cysts' withou …
Detailed sonography showed a thickened and enlarged placenta with multiple 'cysts', polyhydramnios, a single umbilical artery …
Transmission of a ring chromosome 18 from a mother with 46,XX/47,XX, + r(18) mosaicism to her daughter, resulting in a 46,XX,r(18) karyotype.
Jenderny J, Caliebe A, Beyer C, Grote W. Jenderny J, et al. Among authors: caliebe a. J Med Genet. 1993 Nov;30(11):964-5. doi: 10.1136/jmg.30.11.964. J Med Genet. 1993. PMID: 8301656 Free PMC article.
A 6 month old patient is reported with a ring chromosome 18 confirmed by cytogenetic studies and in situ hybridisation. Her clinical features were similar to previous cases of ring chromosome 18 syndrome. The ring chromosome was inherited from the phenotypically and
A 6 month old patient is reported with a ring chromosome 18 confirmed by cytogenetic studies and in situ hybridisation. Her cl
Mild phenotypic manifestations of terminal deletion of the long arm of chromosome 4: clinical description of a new patient.
Caliebe A, Waltz S, Jenderny J. Caliebe A, et al. Clin Genet. 1997 Aug;52(2):116-9. doi: 10.1111/j.1399-0004.1997.tb02528.x. Clin Genet. 1997. PMID: 9298747 Review.
We present clinical and developmental data on a patient with a de novo terminal deletion of the long arm of chromosome 4. Cytogenetic studies after G-banding revealed the karyotype 46,XY,del(4)(q34). ...
We present clinical and developmental data on a patient with a de novo terminal deletion of the long arm of chromosome 4. Cyto …
Prenatal diagnosis of ductus venosus agenesis: a report of two cases and review of the literature.
Gembruch U, Baschat AA, Caliebe A, Gortner L. Gembruch U, et al. Among authors: caliebe a. Ultrasound Obstet Gynecol. 1998 Mar;11(3):185-9. doi: 10.1046/j.1469-0705.1998.11030185.x. Ultrasound Obstet Gynecol. 1998. PMID: 9589141 Review.
This is a report of the prenatal diagnosis of two cases of isolated ductus venosus agenesis occurring at 20 and 37 weeks' gestation, confirmed postnatally by color-coded Doppler sonography. ...In the first case, a healthy female infant was delivered at term. In the …
This is a report of the prenatal diagnosis of two cases of isolated ductus venosus agenesis occurring at 20 and 37 weeks' gestation, …
Absence of 9q22-9qter in trisomy 9 does not prevent a Dandy-Walker phenotype.
von Kaisenberg CS, Caliebe A, Krams M, Hackelöer BJ, Jonat W. von Kaisenberg CS, et al. Among authors: caliebe a. Am J Med Genet. 2000 Dec 18;95(5):425-8. Am J Med Genet. 2000. PMID: 11146460
A postmortem examination confirmed caudal hypoplasia and dysplasia of the cerebellar vermis, resulting in a massively dilated foramen Magendii through which the enlarged cisterna magna communicated with the fourth ventricle. ...Cytogenetic studies showed a 47
A postmortem examination confirmed caudal hypoplasia and dysplasia of the cerebellar vermis, resulting in a massively dilated
Phenotypical variation in cousins with the identical partial trisomy 9 (pter-q22.2) and 7 (q35-qter) at 16 and 23 weeks gestation.
Metzke-Heidemann S, Kuhling-von Kaisenberg H, Caliebe A, Janssen D, Jonat W, Grote W, von Kaisenberg CS. Metzke-Heidemann S, et al. Among authors: caliebe a. Am J Med Genet A. 2004 Apr 15;126A(2):197-203. doi: 10.1002/ajmg.a.20563. Am J Med Genet A. 2004. PMID: 15057986
Knowledge of phenotypic consequences of a specific chromosomal imbalance is important for genetic counseling and prenatal diagnosis. ...Therefore, the study of the karyotype to phenotype correlation in affected relatives of the same age and the identical unbalanced translo …
Knowledge of phenotypic consequences of a specific chromosomal imbalance is important for genetic counseling and prenatal diagnosis. …
An evaluation of the genetic-matched pair study design using genome-wide SNP data from the European population.
Lu TT, Lao O, Nothnagel M, Junge O, Freitag-Wolf S, Caliebe A, Balascakova M, Bertranpetit J, Bindoff LA, Comas D, Holmlund G, Kouvatsi A, Macek M, Mollet I, Nielsen F, Parson W, Palo J, Ploski R, Sajantila A, Tagliabracci A, Gether U, Werge T, Rivadeneira F, Hofman A, Uitterlinden AG, Gieger C, Wichmann HE, Ruether A, Schreiber S, Becker C, Nürnberg P, Nelson MR, Kayser M, Krawczak M. Lu TT, et al. Among authors: caliebe a. Eur J Hum Genet. 2009 Jul;17(7):967-75. doi: 10.1038/ejhg.2008.266. Epub 2009 Jan 21. Eur J Hum Genet. 2009. PMID: 19156175 Free PMC article.
Using pair-wise identity-by-state (IBS) as a matching criterion, we tried to derive a subset of markers that would allow identification of the best overall matching (BOM) partner for a given individual, based on the IBS status for the subset alone. ...Further …
Using pair-wise identity-by-state (IBS) as a matching criterion, we tried to derive a subset of markers that would allow ident …
Depletion of potential A2M risk haplotype for Alzheimer's disease in long-lived individuals.
Flachsbart F, Caliebe A, Nothnagel M, Kleindorp R, Nikolaus S, Schreiber S, Nebel A. Flachsbart F, et al. Among authors: caliebe a. Eur J Hum Genet. 2010 Jan;18(1):59-61. doi: 10.1038/ejhg.2009.136. Eur J Hum Genet. 2010. PMID: 19639019 Free PMC article.
Consistent with this hypothesis, earlier studies showed a depletion of the Alzheimer's disease risk factor APOE*epsilon4 in long-lived individuals (LLIs). ...Our results show a significant depletion of this haplotype in LLIs, thus confirming it as a mortality …
Consistent with this hypothesis, earlier studies showed a depletion of the Alzheimer's disease risk factor APOE*epsilon4 in long-live …
Association of TH01 with human longevity revisited.
von Wurmb-Schwark N, Caliebe A, Schwark T, Kleindorp R, Poetsch M, Schreiber S, Nebel A. von Wurmb-Schwark N, et al. Among authors: caliebe a. Eur J Hum Genet. 2011 Aug;19(8):924-7. doi: 10.1038/ejhg.2011.43. Epub 2011 Mar 16. Eur J Hum Genet. 2011. PMID: 21407269 Free PMC article.
The gene tyrosine hydroxylase 1 (TH01) has been suggested as a candidate for human longevity. A previous study has shown an association between longevity and specific alleles of the TH01 short tandem repeat (STR) polymorphism in an Italian population. ...If the TH01 …
The gene tyrosine hydroxylase 1 (TH01) has been suggested as a candidate for human longevity. A previous study has shown an as …
Empirical evaluation reveals best fit of a logistic mutation model for human Y-chromosomal microsatellites.
Jochens A, Caliebe A, Rösler U, Krawczak M. Jochens A, et al. Among authors: caliebe a. Genetics. 2011 Dec;189(4):1403-11. doi: 10.1534/genetics.111.132308. Epub 2011 Oct 3. Genetics. 2011. PMID: 21968190 Free PMC article.
At the six microsatellites analyzed (DYS19, DYS389I, DYS390, DYS391, DYS392, and DYS393), a total of 162 mutations were observed. ...This is the first study to empirically compare different microsatellite mutation models in a locus-specific fashion....
At the six microsatellites analyzed (DYS19, DYS389I, DYS390, DYS391, DYS392, and DYS393), a total of 162 mutations were observed. ... …
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