Search Results - "Lowry, R.B."

Co-occurrence of Joubert syndrome and Jeune asphyxiating thoracic dystrophy by Lehman, A.M., Eydoux, P., Doherty, D., Glass, I.A., Chitayat, D., Chung, B.Y.H., Langlois, S., Yong, S.L., Lowry, R.B., Hildebrandt, F., Trnka, P.

“…Ciliary disorders share typical features, such as polydactyly, renal and biliary cystic dysplasia, and retinitis pigmentosa, which often overlap across…”
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FOXL2 copy number changes in the molecular pathogenesis of BPES: unique cohort of 17 deletions by D'haene, B, Nevado, J, Pugeat, M, Pierquin, G, Lowry, R.B, Reardon, W, Delicado, A, García-Miñaur, S, Palomares, M, Courtens, W, Stefanova, M, Wallace, S, Watkins, W, Shelling, A.N, Wieczorek, D, Veitia, R.A, De Paepe, A, Lapunzina, P, De Baere, E

“…Blepharophimosis Syndrome (BPES) is an autosomal dominant developmental disorder of the eyelids with or without ovarian dysfunction caused by FOXL2 mutations…”
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Reduction in Neural-Tube Defects After Folic Acid Fortification in Canada by De Wals, P, Tairou, F, Van Allen, M.I, Uh, S.H, Lowry, R.B, Sibbald, B, Evans, J.A, Van den Hof, M.C, Zimmer, P, Crowley, M, Fernandez, B, Lee, N.S, Niyonsenga, T

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An update on the frequency of mucopolysaccharide syndromes in British Columbia by Lowry, R B, Applegarth, D A, Toone, J R, MacDonald, E, Thunem, N Y

“…We report an update of data for frequency of the Hurler and Hunter syndromes in British Columbia, Canada. An earlier study of the frequency of both Hurler…”
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Interstitial Deletions at 6q14.1q15 Associated with Developmental Delay and a Marfanoid Phenotype by Lowry, R.B., Chernos, J.E., Connelly, M.S., Wyse, J.P.H.

“…There are a number of reports of interstitial deletions of the long arm of chromosome 6 that have developmental delay and obesity suggesting that this is a…”
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Father-to-son transmission of an X-linked gene: A case of paternal sex chromosome heterodisomy by Ferrier, R.A., Lowry, R.B., Lemire, E.G., Stoeber, G.P., Howard, J., Parboosingh, J.S.

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Cataracts, microcephaly, kyphosis, and limited joint movement in two siblings: a new syndrome by Lowry, R B, MacLean, R, McLean, D M, Tischler, B

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Alport syndrome and mental retardation: clinical and genetic dissection of the contiguous gene deletion syndrome in Xq22.3 (ATS-MR) by Meloni, I, Vitelli, F, Pucci, L, Lowry, R B, Tonlorenzi, R, Rossi, E, Ventura, M, Rizzoni, G, Kashtan, C E, Pober, B, Renieri, A

“…[...]we have further characterised the new contiguous gene syndrome in Xq22.3, which we propose to call ATS-MR; this adds to the previously known contiguous…”
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Bowen–Conradi syndrome: A clinical and genetic study by Lowry, R.B., Innes, A.M., Bernier, F.P., McLeod, D.R., Greenberg, C.R., Chudley, A.E., Chodirker, B., Marles, S.L., Crumley, M.J., Loredo‐Osti, J.C., Morgan, K., Fujiwara, T.M.

“…The purpose of the study was to delineate the anomalies and the natural life history of persons with the Bowen–Conradi syndrome [Bowen and Conradi 1976: Birth…”
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Association between congenital foot anomalies and gestational age at amniocentesis by Yoon, G., Chernos, J., Sibbald, B., Lowry, R.B., Connors, G., Simrose, R., Bernier, F.P.

“…Objectives Our objectives were to confirm the reported association between early amniocentesis and congenital foot anomalies as well as to report, for the…”
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Autosomal recessive, fatal infantile hypertonic muscular dystrophy among Canadian Natives by Lacson, A G, Seshia, S S, Sarnat, H B, Anderson, J, DeGroot, W R, Chudley, A, Adams, C, Darwish, H Z, Lowry, R B, Kuhn, S

“…We describe eleven mid-western Canadian aboriginal infants with a unique, progressive muscle disorder. All except one had muscle biopsy and/or autopsy. The…”
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Klippel-Trenaunay and Sturge-Weber syndrome with extensive Mongolian spots, hypoplastic larynx and subglottic stenosis by Leung, A K, Lowry, R B, Mitchell, I, Martin, S, Cooper, D M

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Bowen-Conradi syndrome: A clinical and genetic study by Lowry, R.B., Innes, A.M., Bernier, F.P., McLeod, D.R., Greenberg, C.R., Chudley, A.E., Chodirker, B., Marles, S.L., Crumley, M.J., Loredo-Osti, J.C., Morgan, K., Fujiwara, T.M.

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Characterization of an interstitial deletion del(13)(q22q32) using microdissection and sequential FISH and G-banding by Xu, J, Chernos, J E, Bernier, F, Lowry, R B

“…The objective of this study was to delineate a chromosome 13 abnormality and establish its clinical correlation by using molecular cytogenetics procedures. A…”
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Tertiary trisomy (22q11q),47,+der(22),t(11;22) by Biederman, B M, Lin, C C, Lowry, R B, Somerville, R

“…We describe a case of tertiary trisomy (22q11q) 47,XX,+der(22),(22pter = to 22q13 :: 11q25 = to 11qter) in a child with mental retardation, cleft palate, and…”
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Absent vagina and the Klippel-Feil anomaly by Baird, P A, Lowry, R B

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The use of spontaneous abortuses and stillbirths in genetic counseling by Poland, B J, Lowry, R B

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Prenatal diagnosis of chromosomal mosaicism for trisomy D by Dill, F J, Hall, J G, Hoehn, H

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Analysis of urinary mucopolysaccharides using small ion exchange columns by Applegarth, D A, Bozoian, G, Lowry, R B

“…Methods are presented for the small scale column chromatography of urinary mucopolysaccharides. After isolation by cety pyridinium chloride mucopolysaccharides…”
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The British Columbia Registry for Handicapped Children and Adults: Evolutionary Changes Over Twenty Years by LOWRY, R.B., MILLER, J.R., SCOTT, A.E., RENWICK, D.H.G.

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