Prof. Dr. Albert Schinzel (emeritiert)

Fakultäten » Medizinische Fakultät » Medizinische Genetik, Institut für » Prof. Dr. Albert Schinzel (emeritiert)

Completed research projects

Project leader	Project title
Bartholdi Baumer	Clinical and molecular studies in patients with the Silver-Russell syndrome
Baumer	Beckwith-Wiedemann syndrome: ascertainment of the genetic causes, uniparental disomy, duplications, abnormal methylation patterns at LIT1, H19 or IGF2.
Baumer Bartholdi	Molecular investigations in patients with Silver-Russell syndrome: determination of maternal uniparental disomy 7 and methylation differences in the cluster of imprinted genes on 11p15.
Baumer Riegel	Origin and mechanism of formation of structural chromosome aberrations
Baumer Schinzel	Prader-Willi syndrome and Angelman syndrome: ascertainment of deletions, uniparental disomy, imprinting defects, UBE3A mutations
	Investigations in grand-parents from probands with interstitial chromosome microdeletions, particularly microdeletion 15q12, 7q11.23 and 22q11.22.
	Gene mapping and mutation analysis in monogenic disorders
Baumer Wey	Uniparental disomy in man: investigations in patients with balanced rearrangements and phenotypic abnormalities.
Riegel	ArrayCGH studies in fetuses, stillborns and multiply malformed lifeborns with normal conventional karyotype
	Characterization of de novo marker and ring chromosomes using FISH
	ECARUCA (European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations). Determination of breakpoints in rare structural chromosome aberrations
	Molecular cytogenetic investigations of ring chromosomes
Riegel Baumer	Investigation of the origin of de novo extra chromosomes and structural rearrangements through chromosome dissection and reverse painting
Riegel Schinzel	Investigations of subtelomeric microdeletions in families with a proband with multiple congenital anomalies reminiscent of chromosome aberrations, but normal banded karyotype
Schinzel	Clinical delineation of malformation syndromes of genetic etiology
	Surival in trisomy 18
	Cytogenetic findings in a series of full and partial trisomy 21 cases.
	Mapping candidate gene loci for congenital malformations using data from unbalanced chromosome aberrations
	Prenatally diagnosed sex chromosome aberrations: decisions taken by the couples
	Ratio of false negative and false positive cytogenetic results from chorionic villus examinations and the impact of long-term cultures for their reduction.
	Survival in trisomy 13
	Origin of balanced translocations which arose de novo
	Trisomy 16p
Schinzel Riegel	Follow-up of pregnancies and children undergoing prenatal cytogenetic diagnosis
	Investigations with molecular cytogenetic techniques of rare and unusual chromosome aberrations
Schinzel Riegel Baumer	Investigations of rare multiple congenital malformations syndromes of unknown etiology using array-based comparative genomic hybridization