Search Results - "Rudd, N L"

The chromosome constitution of 1000 human spermatozoa by Martin, R H, Balkan, W, Burns, K, Rademaker, A W, Lin, C C, Rudd, N L

“…Chromosomal analysis of 1000 spermatozoa from 33 normal men was performed using in vitro fertilization of zona-free golden hamster eggs. The frequency of…”
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Genotype and the cryopreservation process affect the levels of aneuploidy and chromosome breakage in cultured human fibroblasts by Rudd, N L, Hoar, D I, Williams, S E, Hennig, U G

“…Spontaneous micronucleus frequencies were measured in 11 human fibroblast strains, with early-passage cells that had never been frozen and with cells of…”
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Familial caudal dysgenesis: evidence for a major dominant gene by Rudd, N L, Klimek, M L

“…Four sibs with varying degrees of caudal dysgenesis are described. Case 1 showed aberrant umbilical cord vasculature with a single umbilical artery near the…”
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Sex chromosome mosaicism not detected at amniocentesis by Roland, B, Cox, D M, Rudd, N L

“…Amniocentesis was performed because of a fetal abdominal wall defect, and a 45,X karyotype was obtained. A near-normal male infant with no features of Turner…”
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Thymic-renal-anal-lung dysplasia in sibs: a new autosomal recessive error of early morphogenesis by Rudd, N L, Curry, C, Chen, K T, Capusten, B, Trevenen, C L

“…We report on 3 sisters with a syndrome of unilobed or absent thymus, renal and ureter agenesis/dysgenesis, and intrauterine growth retardation (IUGR). Two of…”
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The use of DNA probes to establish parental origin in Down syndrome by RUDD, N. L, DIMNIK, L. S, GREENTREE, C, MENDES-CRABB, K, HOAR, D. I

“…Molecular analysis was performed to determine the parental origin of the extra number 21 chromosome in 20 couples following the birth of a child with standard…”
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A de novo case of trisomy 10p: gene dosage studies of hexokinase, inorganic pyrophosphatase and adenosine kinase by SNYDER, F. F, LIN, C. C, RUDD, N. L, SHEARER, J. E, HEIKKILA, E. M, HOO, J. J

“…A female infant with multiple congenital anomalies is presented. Cytogenetic study revealed the presence of a de novo, supernumerary, small telocentric…”
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The meiotic stage of nondisjunction in trisomy 21 : determination by using DNA polymorphisms by ANTONARAKIS, S. E, PETERSEN, M. B, COHEN, M. M, ROULSON, D, SCHWARTZ, S, MIKKELSEN, M, TRANEBJAERG, L, GREENBERG, F, HOAR, D. I, RUDD, N. L, WARREN, A. C, METAXOTOU, C, MCINNIS, M. G, BARTSOCAS, C, CHAKRAVARTI, A, ADELSBERGER, P. A, SCHINZEL, A. A, BINKERT, F, PANGALOS, C, RAOUL, O, SLAUGENHAUPT, S. A, HAFEZ, M

“…We have studied DNA polymorphisms at loci in the pericentromeric region on the long arm of chromosome 21 in 200 families with trisomy 21, in order to determine…”
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A dominantly inherited cytogenetic anomaly: a possible cell division mutant by RUDD, N. L, TESHIMA, I. E, MARTIN, R. H, SISKEN, J. E, WEKSBERG, R

“…Short-term lymphocyte cultures from three unrelated patients showed an increased frequency of mitoses with separated centromeres and splayed chromatids in the…”
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The association of a lymphoreticular malignancy with an 11q deletion: a coincidence or a cancer susceptibility? by Rudd, N L, Teshima, I E

“…A balanced paternal chromosome insertion, ins(11) p14q14q21, resulted in a female with an unbalanced karyotype, del(11)(q14q21). This imbalance presumably…”
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Kinetochore analysis of micronuclei allows insights into the actions of colcemid and mitomycin C by Rudd, N L, Williams, S E, Evans, M, Hennig, U G, Hoar, D I

“…We have induced micronuclei in two strains of diploid human fibroblasts with a known aneugen, colcemid, and a known clastogen, mitomycin C. Using…”
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A possible primidone embryopathy by Rudd, N L, Freedom, R M

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A case of ring (9)/del(9p) mosaicism associated with gastroesophageal reflux by Leung, A K, Rudd, N L

“…We present a male infant with r(9) and del(9p) mosaicism and chromosome constitution of 46,XY,r(9) (p22;q34)/46,XY,del(9) (p22). This patient also had…”
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Trigonocephaly and associated minor anomalies in mother and son by Hunter, A G, Rudd, N L, Hoffmann, H J

“…A mother and her son are described with neonatal trigonocephaly, multiple suture synostosis; shallow orbits; unusual nose; deviation of the terminal phalanges…”
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A 'new' syndrome of mental retardation with characteristic facies and brachyphalangy by Hunter, A G, McAlpine, P J, Rudd, N L, Fraser, F C

“…This paper describes 6 individuals, occurring in 3 generations of a single family, who were affected by a distinct syndrome which included: retardation and…”
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Gene deletion and duplication effects on phenotype and gamma globulin levels by Rudd, N L, Lamarche, P H

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Prenatal ultrasonic diagnosis of occipital encephalocele by Miskin, M, Rudd, N L, Dische, M R, Benzie, R, Pirani, B B

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Factors distinguishing couples at risk for nondisjunction by Rudd, N L, Hoar, D I, Martin, R H, Kemp, D, Dimnik, L

“…Micronucleus frequencies were determined on 24 young parents of trisomic infants, 21 individuals with recurrent unexplained abortions, and 42 control…”
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Partial trisomy 20 confirmed by gene dosage studies by Rudd, N L, Bain, H W, Giblett, E, Chen, S H, Worton, R G

“…We describe a female infant with multiple congenital anomalies and mental retardation, pre- and postnatal growth failure, microcephaly, unusual facial…”
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Use of fetoscopy by Benzie, R J, Doran, T A, Ford, J A, Rudd, N L, Miskin, M, Allen, L C

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