Search Results - "MARLES, S. L"

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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Prenatal diagnosis of ring chromosome 6 by Dawson, A J, Marles, S L, Harman, C R, Phillips, S, Menticoglou, S

“…An amniocentesis was performed on a gravida 1, para 0 23-year-old female because of high maternal serum alpha-fetoprotein and nuchal thickening/cystic mass…”
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Another case of microcephaly, facial clefting, and preaxial polydactyly by Marles, S L, Chudley, A E

“…We describe a nine month old boy with failure to thrive, developmental delay, bilateral cleft lip and palate, and left preaxial polydactyly. The features are…”
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New familial syndrome of unilateral upper eyelid coloboma, aberrant anterior hairline pattern, and anal anomalies in Manitoba Indians by Marles, S L, Greenberg, C R, Persaud, T V, Shuckett, E P, Chudley, A E

“…We report on 6 (3 male, 3 female) Manitoba Indian children with hypertelorism and variable combinations of unilateral eye malformations, aberrant anterolateral…”
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Identification of an uncommon haptoglobin type using DNA and protein analysis by MARLES, S. L, MCALPINE, P. J, ZELINSKI, T, PHILLIPS, S, MAEDA, N, GREENBERG, C. R

“…The inherited variations in haptoglobin phenotypes are attributed to the homozygous and heterozygous combinations of three common autosomal alleles: HP*1F,…”
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Evidence for Ritscher-Schinzel syndrome in Canadian Native Indians by Marles, S L, Chodirker, B N, Greenberg, C R, Chudley, A E

“…We report on 8 (3 male, 5 female) native Canadian children with distinctive facial appearance and variable combinations of ocular colobomas, hypertelorism,…”
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Long-term survival and normal cognitive development in infantile phosphofructokinase-1 deficiency by Spriggs, E. L., Marles, S. L., Lacson, A., McRae, K., Bowman, N., Sachdeva, R., Monson, R., Dilling, L., Greenberg, C. R.

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Ulnar agenesis and endocardial fibroelastosis by Marles, S L, Chudley, A E

“…We report on an infant with bilateral ulnar agenesis, radial hypoplasia, oligodactyly, hydrops fetalis, and endocardial fibroelastosis (EFE). The presence of…”
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Mucinous cystadenoma of ovary in a patient with Williams syndrome by Marles, S L, Goldberg, N A, Chudley, A E

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Persistent neonatal hypoglycemia: Diagnosis and management by Marles, S L, Casiro, O G

“…Maintenance of plasma glucose depends on a normal endocrine system, functional enzyme levels for glycogenolysis, gluconeogenesis and other processes, and there…”
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Humeroradial synostosis, ulnar aplasia and oligodactyly, with contralateral amelia, in a child with prenatal cocaine exposure by Marles, Sandra L., Reed, Martin, Evans, Jane A.

“…Humeral “bifurcation” due to humeroradial synostosis, and amelia are both very rare limb anomalies. We report on a Canadian. Aboriginal boy with both these…”
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Long-term survival and normal cognitive development in infantile phosphofructokinase-1 deficiency by Spriggs, E L, Marles, S L, Lacson, A, McRae, K, Bowman, N, Sachdeva, R, Monson, R, Dilling, L, Greenberg, C R

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A not-so-"new" mental retardation syndrome by Chodirker, Bernard N., Marles, Sandra L., Chudley, Albert E.

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