List of works - Almuth Caliebe

A 1 Mb-sized microdeletion Xq26.2 encompassing the GPC3 gene in a fetus with Simpson-Golabi-Behmel syndrome Report, antenatal findings and review

scientific article published on 21 March 2011

A de novo 1.1Mb microdeletion of chromosome 19p13.11 provides indirect evidence for EPS15L1 to be a strong candidate for split hand split foot malformation

scientific article published on 07 June 2011

A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader-Willi syndrome

scientific article

Antiviral and regulatory T cell immunity in a patient with stromal interaction molecule 1 deficiency

scientific article published on 21 December 2011

Array-based DNA methylation profiling in male infertility reveals allele-specific DNA methylation in PIWIL1 and PIWIL2.

scientific article published on 10 February 2014

Catel-Manzke syndrome: two new patients and a critical review of the literature

scientific article published on 11 April 2008

Conflicting results of prenatal FISH with different probes for Down's Syndrome critical regions associated with mosaicism for a de novo del(21)(q22) characterised by molecular karyotyping: Case report

scientific article

DNA-methylation profiling of fetal tissues reveals marked epigenetic differences between chorionic and amniotic samples

scientific article

Deep bisulfite sequencing of aberrantly methylated loci in a patient with multiple methylation defects

scientific article

Do the exome: A case of Williams-Beuren syndrome with severe epilepsy due to a truncating de novo variant in GABRA1.

scientific article published on 6 September 2016

Frequency and characterization of DNA methylation defects in children born SGA.

scientific article published on 12 December 2012

Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly

scientific article

Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome

scientific article

In vivo investigations of the effect of short- and long-term recombinant growth hormone treatment on DNA-methylation in humans

scientific article

Isolated trisomy 7q21.2-31.31 resulting from a complex familial rearrangement involving chromosomes 7, 9 and 10.

scientific article published on 5 December 2011

Mutations in CDK5RAP2 cause Seckel syndrome

scientific article

Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes

scientific article published on 2 November 2014

No significantly increased frequency of the inversion polymorphism at the WBS-critical region 7q11.23 in German parents of patients with Williams-Beuren syndrome as compared to a population control

scientific article

Normal prenatal ultrasound findings in a case with de novo mosaic small supernumerary marker chromosome 18--how to counsel?

scientific article published on 08 April 2011

The differentially methylated region of MEG8 is hypermethylated in patients with Temple syndrome

scientific article published on 6 November 2015

List of works by Almuth Caliebe

A 1 Mb-sized microdeletion Xq26.2 encompassing the GPC3 gene in a fetus with Simpson-Golabi-Behmel syndrome Report, antenatal findings and review

A de novo 1.1Mb microdeletion of chromosome 19p13.11 provides indirect evidence for EPS15L1 to be a strong candidate for split hand split foot malformation

A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader-Willi syndrome

Antiviral and regulatory T cell immunity in a patient with stromal interaction molecule 1 deficiency

Array-based DNA methylation profiling in male infertility reveals allele-specific DNA methylation in PIWIL1 and PIWIL2.

Catel-Manzke syndrome: two new patients and a critical review of the literature

Conflicting results of prenatal FISH with different probes for Down's Syndrome critical regions associated with mosaicism for a de novo del(21)(q22) characterised by molecular karyotyping: Case report

DNA-methylation profiling of fetal tissues reveals marked epigenetic differences between chorionic and amniotic samples

Deep bisulfite sequencing of aberrantly methylated loci in a patient with multiple methylation defects

Do the exome: A case of Williams-Beuren syndrome with severe epilepsy due to a truncating de novo variant in GABRA1.

Frequency and characterization of DNA methylation defects in children born SGA.

Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly

Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome

In vivo investigations of the effect of short- and long-term recombinant growth hormone treatment on DNA-methylation in humans

Isolated trisomy 7q21.2-31.31 resulting from a complex familial rearrangement involving chromosomes 7, 9 and 10.

Mutations in CDK5RAP2 cause Seckel syndrome

Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes

No significantly increased frequency of the inversion polymorphism at the WBS-critical region 7q11.23 in German parents of patients with Williams-Beuren syndrome as compared to a population control

Normal prenatal ultrasound findings in a case with de novo mosaic small supernumerary marker chromosome 18--how to counsel?

The differentially methylated region of MEG8 is hypermethylated in patients with Temple syndrome