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American Journal of Medical Genetics. Part A|May 2, 2008
Clinical delineation of Giuffrè-Tsukahara syndrome: another case with microcephaly and radio-ulnar synostosis with apparent X-linked semi-dominant inheritanceHarald Gaspar, Kurt Albermann, Alessandra Baumer, et al.
Prenatal Diagnosis|February 14, 2006
Postzygotic isochromosome formation as a cause for false-negative results from chorionic villus chromosome examinationsMariluce Riegel, Josef Wisser, Alessandra Baumer, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|March 23, 2021
Network-based analysis using chromosomal microdeletion syndromes as a modelThiago Corrêa, Bruno César Feltes, Albert Schinzel, et al.
American Journal of Medical Genetics. Part A|April 27, 2004
Natural history of twin disruption sequenceAndreas Zankl, Daniela Brooks, Eugen Boltshauser, et al.
Prenatal Diagnosis|May 10, 2002
Maternal uniparental isodisomy 10 and mosaicism for an additional marker chromosome derived from the paternal chromosome 10 in a fetusMonika Schlegel, Alessandra Baumer, Mariluce Riegel, et al.
American Journal of Medical Genetics|March 14, 2002
Patient with rheumatoid arthritis and MCA/MR syndrome due to unbalanced der(18) transmission of a paternal translocation t(18;20)(p11.1;p11.1)Márta Czakó, Mariluce Riegel, Eva Morava, et al.
Croatian Medical Journal|June 16, 2011
Novel duplication on chromosome 16 (q12.1-q21) associated with behavioral disorder, mild cognitive impairment, speech delay, and dysmorphic features: case reportLjubica Odak, Ingeborg Barisić, Leona Morozin Pohovski, et al.
Genes|April 30, 2021
Shared Neurodevelopmental Perturbations Can Lead to Intellectual Disability in Individuals with Distinct Rare Chromosome DuplicationsThiago Corrêa, Cíntia B Santos-Rebouças, Maytza Mayndra, et al.
European Neurology|January 20, 2004
Moyamoya angiopathy with dolichoectatic internal carotid arteries, patent ductus arteriosus and pupillary dysfunction: a new genetic syndrome?Nadia Khan, Albert Schinzel, Bernhard Shuknecht, et al.
European Journal of Medical Genetics|February 12, 2008
Blepharophimosis and mental retardation (BMR) phenotypes caused by chromosomal rearrangements: description in a boy with partial trisomy 10q and monosomy 4q and review of the literatureDeborah Bartholdi, Sandra P Toelle, Bernhard Steiner, et al.
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