Search Results - "RUPPS, R"

Two Sisters with Congenital Blindness caused by Osteoporosis‐pseudoglioma Syndrome due to new Mutations in the LPR5 Gene by Welinder, L., Robitaille, J.M., Boerkoel, C.F., Rupps, R., Lyons, C.

“…Purpose To discover the reason behind two sisters being born blind with retinal detachment and microphthalmia with later findings of severe osteoporosis with…”
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Two Sisters with Congenital Blindness caused by Osteoporosis‐pseudoglioma Syndrome due to new Mutations in the LPR5 Gene by Welinder, L., Robitaille, J.M., Boerkoel, C.F., Rupps, R., Lyons, C.

“…Purpose To discover the reason behind two sisters being born blind with retinal detachment and microphthalmia with later findings of severe osteoporosis with…”
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Phenotypic and molecular characterization of a novel DCX deletion and a review of the literature by Chou, A, Boerkoel, C, Du Souich, C, Rupps, R

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Recurrent trisomy 21: four cases in three generations by Gair, JL, Arbour, L, Rupps, R, Jiang, R, Bruyère, H, Robinson, WP

“…While gonadal mosaicism can lead to recurrence of trisomy 21 (T21) for a single couple, the recurrence of free T21 in multiple members of a single pedigree has…”
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Two Sisters with Congenital Blindness caused by Osteoporosis‐pseudoglioma Syndrome due to new Mutations in the LPR 5 Gene by Welinder, L., Robitaille, J.M., Boerkoel, C.F., Rupps, R., Lyons, C.

“…Abstract only…”
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Two Sisters with Congenital Blindness caused by Osteoporosis‐pseudoglioma Syndrome due to new Mutations in the LPR 5 Gene by Welinder, L., Robitaille, J.M., Boerkoel, C.F., Rupps, R., Lyons, C.

“…Abstract only…”
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Cloning, sequencing, and viscometric adhesion analysis of heat-resistant agglutinin 1, an integral membrane hemagglutinin from Escherichia coli O9:H10:K99 by Lutwyche, P, Rupps, R, Cavanagh, J, Warren, R A, Brooks, D E

“…Classifications Services IAI Citing Articles Google Scholar PubMed Related Content Social Bookmarking CiteULike Delicious Digg Facebook Google+ Mendeley Reddit…”
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Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder by Chaudhry, A., Noor, A., Degagne, B., Baker, K., Bok, L. A., Brady, A. F., Chitayat, D., Chung, B. H., Cytrynbaum, C., Dyment, D., Filges, I., Helm, B., Hutchison, H. T., Jeng, L. J. B., Laumonnier, F., Marshall, C. R., Menzel, M., Parkash, S., Parker, M. J., Raymond, L. F., Rideout, A. L., Roberts, W., Rupps, R., Schanze, I., Schrander-Stumpel, C. T. R. M., Speevak, M. D., Stavropoulos, D. J., Stevens, S. J. C., Thomas, E. R. A., Toutain, A., Vergano, S., Weksberg, R., Scherer, S. W., Vincent, J. B., Carter, M. T.

“…Studies of genomic copy number variants (CNVs) have identified genes associated with autism spectrum disorder (ASD) and intellectual disability (ID) such as…”
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Acetylcholine Receptor Pathway Mutations Explain Various Fetal Akinesia Deformation Sequence Disorders by Michalk, Anne, Stricker, Sigmar, Becker, Jutta, Rupps, Rosemarie, Pantzar, Tapio, Miertus, Jan, Botta, Giovanni, Naretto, Valeria G., Janetzki, Catrin, Yaqoob, Nausheen, Ott, Claus-Eric, Seelow, Dominik, Wieczorek, Dagmar, Fiebig, Britta, Wirth, Brunhilde, Hoopmann, Markus, Walther, Marisa, Körber, Friederike, Blankenburg, Markus, Mundlos, Stefan, Heller, Raoul, Hoffmann, Katrin

“…Impaired fetal movement causes malformations, summarized as fetal akinesia deformation sequence (FADS), and is triggered by environmental and genetic factors…”
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A KCNQ1 V205M missense mutation causes a high rate of long QT syndrome in a First Nations community of northern British Columbia: a community-based approach to understanding the impact by Arbour, Laura, Rezazadeh, Saman, Eldstrom, Jodene, Weget-Simms, Gwen, Rupps, Rosemarie, Dyer, Zoe, Tibbits, Glen, Accili, Eric, Casey, Brett, Kmetic, Andrew, Sanatani, Shubhayan, Fedida, David

“…Hereditary long QT syndrome is named for a prolonged QT interval reflecting predisposition to ventricular arrhythmias and sudden death. A high rate in a…”
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Short Report: Recurrent trisomy 21: four cases in three generations by Gair, J L, Arbour, L, Rupps, R, Jiang, R, Bruyère, H, Robinson, W P

“…While gonadal mosaicism can lead to recurrence of trisomy 21 (T21) for a single couple, the recurrence of free T21 in multiple members of a single pedigree has…”
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Increased permeability of lymphatic trunks draining granulomas by Carr, J, Carr, I, Rupps, R

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Cloning, sequencing, and visometric adhesion analysis of heat-resistant agglutinin 1, an integral membrane hemagglutinin from Escherichia coli O9:H10:K99 by Lutwyche P, Rupps R, Cavanagh J, Warren R.A.J, Brooks D.E

“…The gene encoding a mannose-resistant hemagglutinating protein was cloned from Escherichia coli O9:H10:K99. The hemagglutinin is different from two other…”
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Cloning, sequencing, and viscometric adhesion analysis of heat-resistant agglutinin A, an integral membrane hemagglutinin from Escherichia coli O9:H10:K99 by LUTWYCHE, P, RUPPS, R, CAVANAGH, J, WARREN, A. J, BROOKS, D. E

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Characteristics of primary biliary cirrhosis in British Columbia's First Nations population by Arbour, Laura, Rupps, Rosemarie, Field, Leigh, Ross, Paul, Erikson, Anders, Henderson, Harvey, Hill, Warren, Yoshida, Eric

“…Primary biliary cirrhosis (PBC) is a rare, autoimmune liver disorder characterized by progressive destruction of intrahepatic bile ducts, that results in…”
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Renal-coloboma syndrome: Prenatal detection and clinical spectrum in a large family by Ford, Bryce, Rupps, Rosemarie, Lirenman, David, Van Allen, Margot I., Farquharson, Duncan, Lyons, Christopher, Friedman, J.M.

“…Renal‐coloboma syndrome includes abnormalities in the urogenital and ocular systems as its primary manifestations, although it can be associated with…”
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Recurrent trisomy 21 in a couple with a child presenting trisomy 21 mosaicism and maternal uniparental disomy for chromosome 21 in the euploid cell line by Bruyère, Hélène, Rupps, Rosemarie, Kuchinka, Brian D., Friedman, Jan M., Robinson, Wendy P.

“…Recurrence of trisomy 21 was observed in a family in which both parents had a normal chromosome complement. Mosaic trisomy 21 was found in a blood karyotype of…”
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Skeletal and cardiac malformations with thrombocytopenia: A new syndrome? by Rupps, Rosemarie, Elliott, Alison M., Azouz, E. Michel, Bernstein, Mark L., Kaplan, Paige, Eydoux, Patrice, Der Kaloustian, Vazken M.

“…We describe a female patient with multiple anomalies suggestive of a new syndrome. Manifestations include: VSD and ASD, mild developmental delay, conductive…”
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Congenital heart defects in Canadian Inuit: is more folic acid making a difference? by Arbour, L, Rupps, R, MacDonald, S, Forth, M, Yang, J, Nowdluk, M, Osborne, G

“…Grain fortification of flour with folic acid has successfully reduced neural tube defects (NTDs) by approximately one half of the pre-fortification rate. The…”
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Early development of schizophrenic patients. An anamnestic study (author's transl) by Keppler, K, Lempp, R, Paschedag, D, Rebmann, H E, Rupps, R

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