A chromosomal duplication map of malformations: regions of suspected haplo- and triplolethality--and tolerance of segmental aneuploidy--in humans.
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S Holloway | D. Fitzpatrick | A. Schinzel | C. Brewer | A Schinzel | C Brewer | P Zawalnyski | D FitzPatrick | A. Schinzel | S. Holloway | P. Zawalnyski | D. FitzPatrick | Carole Brewer | Susan Holloway | Paul Zawalnyski | David Fitzpatrick
[1] S Holloway,et al. A chromosomal deletion map of human malformations. , 1998, American journal of human genetics.
[2] W. Reik,et al. Imprinting of IGF2 and H19: lack of reciprocity in sporadic Beckwith-Wiedemann syndrome. , 1997, Human molecular genetics.
[3] A. Schinzel,et al. Human Cytogenetics Database , 1997 .
[4] Y. Fukushima,et al. An imprinted gene p57KIP2 is mutated in Beckwith–Wiedemann syndrome , 1996, Nature Genetics.
[5] P. Rashbass,et al. Influence of PAX6 Gene Dosage on Development: Overexpression Causes Severe Eye Abnormalities , 1996, Cell.
[6] D. Ornitz,et al. Graded activation of fibroblast growth factor receptor 3 by mutations causing achondroplasia and thanatophoric dysplasia , 1996, Nature Genetics.
[7] D. Rimoin,et al. Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I. , 1995, Human molecular genetics.
[8] C. Bieberich,et al. Gain of function mutations for paralogous Hox genes: implications for the evolution of Hox gene function. , 1995, Proceedings of the National Academy of Sciences of the United States of America.
[9] A. Wilkie,et al. The molecular basis of genetic dominance. , 1994, Journal of medical genetics.
[10] I. Lurie. Autosomal imbalance syndromes: genetic interactions and the origin of congenital malformations in aneuploidy syndromes. , 1993, American journal of medical genetics.
[11] P. Jacobs,et al. Estimates of the frequency of chromosome abnormalities detectable in unselected newborns using moderate levels of banding. , 1992, Journal of medical genetics.
[12] C. Junien,et al. Uniparental paternal disomy in a genetic cancer-predisposing syndrome , 1991, Nature.
[13] J. Buehler,et al. Overview of the National Infant Mortality Surveillance (NIMS) project. , 1989, MMWR. CDC surveillance summaries : Morbidity and mortality weekly report. CDC surveillance summaries.
[14] K. Vasarhelyi,et al. Analysing rearrangement breakpoint distributions by means of binomial confidence intervals , 1989, Annals of human genetics.
[15] T. Beaty,et al. Can familial aggregation of disease be explained by familial aggregation of environmental risk factors? , 1988, American journal of epidemiology.
[16] C. Robinette,et al. The study of human twins in medical research. , 1984, The New England journal of medicine.
[17] H. Kalter,et al. Congenital malformations (second of two parts). , 1983, The New England journal of medicine.
[18] H. Kalter,et al. Medical progress. Congenital malformations: etiologic factors and their role in prevention (first of two parts). , 1983 .
[19] F. Hecht,et al. Annotation: genetic effects of aneuploidy. , 1973, American journal of human genetics.
[20] B. S. Baker,et al. Segmental aneuploidy and the genetic gross structure of the Drosophila genome. , 1972, Genetics.
[21] K. Becker,et al. Double autosomal trisomy (D trisomy plus mongolism). , 1963, Proceedings of the staff meetings. Mayo Clinic.
[22] A. Barbeau,et al. [Double autosomal trisomy with 48 chromosomes (21 and 18)]. , 1961, L'union medicale du Canada.
[23] A. Gossler,et al. Genetic interactions suggest that Danforth's short tail (Sd) is a gain-of-function mutation. , 1998, Developmental genetics.
[24] David I. Wilson,et al. Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family , 1997, Nature Genetics.
[25] J. Delabar,et al. Molecular Mapping of Twenty-Four Features of Down Syndrome on Chromosome 21 , 1993, European journal of human genetics : EJHG.
[26] Iscn. International System for Human Cytogenetic Nomenclature , 1978 .
[27] A. P. Mange,et al. A note on the maternal effect mutants daughterless and abnormal oocyte in Drosophila melanogaster. , 1973, Genetics.
[28] N. Myrianthopoulos,et al. Racial and prenatal factors in major congenital malformations. , 1968, American journal of human genetics.
[29] D. Lindsley,et al. Genetic variations of Drosophila melanogaster , 1967 .