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Changes in registered congenital anomalies in the republic of belarus after the chernobyl accident
A descriptive analysis of birth defects and malformations was performed to assess whether the rates of these defects correlate with the geographic areas of Belarus that received different levels ofExpand
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Expression of the sonic hedgehog gene in human embryos with neural tube defects.
BACKGROUND To estimate the rate of malformations observed during early human development, a series of 38,913 first-trimester abortions were studied. Neural tube defects (NTD) were found in 57 cases.Expand
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The Neu‐Laxova syndrome—a distinct entity
We report a stillborn girl with a complex syndrome of microcephaly, lissencephaly, severe subcutaneous edema, atrophic muscles, camptodactyly, syndactyly of toes and fingers, hypoplastic genitalia,Expand
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Elaboration of the phenotypic changes of the upper limbs in the Neu-Laxova syndrome.
We present two new cases and data from a detailed study of the upper limbs (structural changes, the state of peripheral nerves, arteries, muscles and bones) of three stillborn infants with theExpand
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Cerebral abnormalities in the Neu-Laxova syndrome.
Cerebral abnormalities are considered an obligatory manifestation of the Neu-Laxova syndrome and include lissencephaly, severe microcephaly, aplasia of the corpus callosum, hypoplasia of theExpand
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The cerebro‐reno‐digital syndromes: a new community
Two “new” syndromes of multiple congenital malformations with autosomal‐recessive inheritance are presented. One syndrome, found in 2 sibs of nonconsanguineous parents, included microcephaly,Expand
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Partial trisomy 10p in two generations
SummaryTwo cases of partial 10p trisomy due to a t(10;20)(p12;p12) in two generations of a family are presented. Analysis of 20 known cases of such aberrations confirmed the opinion of SchleiermacherExpand
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Campomelic syndrome: concepts of the bowing and shortening in the lower limbs.
A comprehensive study (bone roentgenography, arteriography, gross dissection, microscopy of the long bones, and biochemical study of proteoglycan-aggregates in the hyaline cartilage) of the lowerExpand
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Genetics of the +p9 syndrome
SummaryAn analysis of data about the+p9 syndrome revealed that this clinical entity may occur in some different genetic forms. The recurrence risk in cases with familial translocations is due to theExpand
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