Search Results - "Ives, Elizabeth J"

VAMP1 Mutation Causes Dominant Hereditary Spastic Ataxia in Newfoundland Families by Bourassa, Cynthia V., Meijer, Inge A., Merner, Nancy D., Grewal, Kanwal K., Stefanelli, Mark G., Hodgkinson, Kathleen, Ives, Elizabeth J., Pryse-Phillips, William, Jog, Mandar, Boycott, Kym, Grimes, David A., Goobie, Sharan, Leckey, Richard, Dion, Patrick A., Rouleau, Guy A.

“…Our group previously described and mapped to chromosomal region 12p13 a form of dominantly inherited hereditary spastic ataxia (HSA) in three large…”
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Somatic and gonadal mosaicism of the Huntington disease gene CAG repeat in brain and sperm by Telenius, Håkan, Kremer, Berry, Goldberg, Y. Paul, Theilmann, Jane, Andrew, Susan E, Zeisler, Jutta, Adam, Shelin, Greenberg, Cheryl, Ives, Elizabeth J, Clarke, Lorne A, Hayden, Michael R

“…Huntington disease is associated with an unstable and expanded (CAG) trinucleotide repeat. We have analysed the CAG expansion in different tissues from 12…”
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Sorsby's fundus dystrophy is genetically linked to chromosome 22q13-qter by Weber, Bernhard H.F, Vogt, Gudrun, Wolz, Werner, Ives, Elizabeth J, Ewing, Cecil C

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Autosomal recessive microcephaly and micromelia in Cree Indians by Ives, E J, Houston, C S

“…In a highly consanguineous, predominantly Cree Indian community in northern Saskatchewan, Canada, 14 similarly malformed babies have been born to eight…”
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Asymmetry of chromosome number 1 pair in three generations of a phenotypically normal family by Ying, K L, Ives, E J

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Assessment of the cardiovascular system in conjoined thoracopagus twins by Izukawa, T, Kidd, B S, Moes, C A, Tyrrell, M J, Ives, E J, Simpson, J S, Shandling, B

“…The thoracoomphalopagus conjoined twins comprise 75% of all conjoined twins. In the assessment of the organ systems of the twins, the cardiovascular system is…”
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Sorsby's fundus dystrophy by Hamilton, W K, Ewing, C C, Ives, E J, Carruthers, J D

“…Ever since Sorsby described his pseudoinflammatory dystrophy in five families, its characteristics have been unclear. The findings in ten affected members of a…”
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833 EVALUATION OF GENETIC COUNSELING FOLLOWING THE BIRTH OF A MALFORMED NEWBORN by Ives, Elizabeth J, Henick, Patricia, Morgan, Kenneth, Holmes, T Mary

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Genetic counselling in family practice by Ives, E J

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The troubled helix: social & psychological implications of the new human genetics // Review by Marteau, Theresa, Richards, Martin, Ives, Elizabeth J

“…The second section of the book deals with the major areas that constitute the practice of clinical genetics. Essential for overall understanding is a very…”
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More on marker X chromosomes, mental retardation and macro-orchidism by Jacobs, P A, Mayer, M, Rudak, E, Gerrard, J, Ives, E J, Shokeir, M H, Hall, J, Jennings, M, Hoehn, H

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Thalidomide and Anal Abnormalities by Ives, E J

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Mitotic behavior of a human dicentric Y chromosome by Ying, K L, Ives, E J

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Regional localization of an X-linked mental retardation gene to Xp21.1-Xp22.13 (MRX38) by Schutz, Christopher K., Ives, Elizabeth J., Chalifoux, Maryse, MacLaren, Linda, Farrell, Sandra, Robinson, Paula D., White, Bradley N., Holden, Jeanette J. A.

“…A gene responsible for X‐linked mental retardation with macrocephaly and seizures (MRX38) in a family with five affected males in three generations was…”
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Genetics and Genetic Counselling by IVES, ELIZABETH J.

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Atelosteogenesis type III: a distinct skeletal dysplasia with features overlapping atelosteogenesis and oto-palato-digital syndrome type II by Stern, H J, Graham, Jr, J M, Lachman, R S, Horton, W, Bernini, P M, Spiegel, P K, Bodurtha, J, Ives, E J, Bocian, M, Rimoin, D L

“…We present 5 cases of a short-limb dwarfism syndrome whose manifestations overlap those of atelosteogenesis and oto-palato-digital syndrome Type II. Clinical,…”
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