Search Results - "Weissbecker, K"

DRD2, DRD3 and 5HT2A receptor genes polymorphisms in obsessive-compulsive disorder by Nicolini, H, Cruz, C, Camarena, B, Orozco, B, Kennedy, J L, King, N, Weissbecker, K, de la Fuente, J R, Sidenberg, D

“…We performed an association analysis of the DRD2, DRD3 and 5HT2A genes polymorphisms in 67 Obsessive-Compulsive Disorder (OCD) patients and 54 healthy…”
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Prolonged culture of normal chorionic villus cells yields ICF syndrome-like chromatin decondensation and rearrangements by Tsien, F, Fiala, E S, Youn, B, Long, T I, Laird, P W, Weissbecker, K, Ehrlich, M

“…Untreated cultures from normal chorionic villus (CV) or amniotic fluid-derived (AF) samples displayed dramatic cell passage-dependent increases in aberrations…”
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A genome-wide search for loci contributing to smoking and alcoholism by Bergen, Andrew W., Korczak, Jeannette F., Weissbecker, Karen A., Goldstein, Alisa M.

“…Using the Collaborative Study on the Genetics of Alcoholism (COGA) data, we performed a sib‐pair linkage analysis of two smoking‐related traits and one…”
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Compulsive Behavior in Generalized Anxiety Disorder and Obsessive-Compulsive Disorder by Townsend, Mark H, Weissbecker, Karen A, Barbee, James G, Peña, José M, Snider, Leslie M, Tynes, L Lee, Tynes, Susan F, Boudoin, Connie, Green-Leibovitz, Matthew I, Winstead, Daniel K

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Segregation analysis of diastolic blood pressure in a large pedigree by Weissbecker, K A

“…Hypertension, a major risk factor for cardiovascular diseases, is thought to be inherited to some extent. However, the nature of its genetic component remains…”
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Mapping and positional cloning of common idiopathic generalized epilepsies: juvenile myoclonus epilepsy and childhood absence epilepsy by Delgado-Escueta, A V, Medina, M T, Serratosa, J M, Castroviejo, I P, Gee, M N, Weissbecker, K, Westling, B W, Fong, C Y, Alonso, M E, Cordova, S, Shah, P, Khan, S, Sainz, J, Rubio-Donnadieu, F, Sparkes, R S

“…Among the 40 to 100 million persons with epilepsy worldwide and the 2 to 2.5 million persons with epilepsies in the United States, approximately 50% have…”
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Comparison of Novel and Existing Methods for Detection of Linkage Disequilibrium Using Parent‐Child Trios in the GAW12 Genetic Isolate Simulated Data by Bailey-Wilson, J.E., Sorant, A.J.M., Malley, J.D., Presciuttini, S., Redner, R.A., Severini, T.A., Badner, J.A., Pajevic, S., Jufer, R., Baffoe-Bonnie, A., Kao, L., Doan, B.Q., Goldstein, J.L., Holmes, T.N., Behneman, D., Mandal, D.M., Turley, T.N., Weissbecker, K.A., O'Neill, J., Pugh, E.W.

“…A novel method for joint detection of association caused by linkage disequilibrium (LD) and estimation of both recombination fraction and linkage…”
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Genetic epidemiology and the search for epilepsy genes by Weissbecker, K A, Elston, R C, Greenberg, D, Delgado-Escueta, A V

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Clinical findings in four children with biotinidase deficiency detected through a statewide neonatal screening program by Wolf, B, Heard, G S, Jefferson, L G, Proud, V K, Nance, W E, Weissbecker, K A

“…Four children with biotinidase deficiency were identified during the first year of a neonatal screening program for this disease in the Commonwealth of…”
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Neonatal screening for biotinidase deficiency: results of a 1-year pilot study by Heard, G S, Wolf, B, Jefferson, L G, Weissbecker, K A, Nance, W E, McVoy, J R, Napolitano, A, Mitchell, P L, Lambert, F W, Linyear, A S

“…We screened 81,243 infants born in Virginia during the 1-year period beginning Jan. 24, 1984, for deficiency of the enzyme biotinidase. A simple colorimetric…”
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An automated procedure for measuring biotinidase activity in serum by Weissbecker, K A, Gruemer, H D, Heard, G S, Miller, W G, Nance, W E, Wolf, B

“…In this automated procedure for quantifying biotinidase activity in human serum, a manual colorimetric method that measures conversion of the enzyme's…”
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Confirmation of linkage between juvenile myoclonic epilepsy locus and the HLA region of chromosome 6 by Weissbecker, K A, Durner, M, Janz, D, Scaramelli, A, Sparkes, R S, Spence, M A

“…Juvenile myoclonic epilepsy (JME) is a generalized, non-progressive epilepsy characterized by an adolescent onset of sudden, involuntary myoclonic jerks…”
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Biotinidase deficiency: initial clinical features and rapid diagnosis by Wolf, B, Heard, G S, Weissbecker, K A, McVoy, J R, Grier, R E, Leshner, R T

“…Biotinidase deficiency is the primary defect in most individuals with late-onset multiple carboxylase deficiency. We have reviewed the presenting clinical…”
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Sudden death associated with biotinidase deficiency by Burton, B K, Roach, E S, Wolf, B, Weissbecker, K A

“…To the Editor.— We report a case of sudden death in a patient with presumed biotinidase deficiency and emphasize the importance of suspecting this diagnosis in…”
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Sib-pair linkage analyses of alcoholism: Dichotomous and quantitative measures by Korczak, Jeannette F., Bergen, Andrew W., Goldstein, Alisa M., Weissbecker, Karen A.

“…We hypothesized that a quantitative alcoholism trait would have greater power than the Collaborative Study on the Genetics of Alcoholism (COGA) dichotomous…”
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The choice of epilepsy syndromes for genetic analysis by Delgado-Escueta, A V, Greenberg, D A, Weissbecker, K, Serratosa, J M, Liu, A, Treiman, L J, Sparkes, R, Park, M S, Barbetti, A

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Neonatal screening for biotinidase deficiency: An update by Wolf, B., Heard, G. S., Jefferson, L. G., Weissbecker, K. A., Secor McVoy, J. R., Nance, W. E., Mitchell, P. L., Lambert, F. W., Linyear, A. S.

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Genes for salivary proline-rich proteins and taste for phenylthiourea are not closely linked in humans by O'Hanlon, K, Weissbecker, K, Cortessis, V, Spence, M A, Azen, E A

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Statistical approaches for the detection of heterozygotes for biotinidase deficiency by Weissbecker, K A, Nance, W E, Eaves, L J, Piussan, C, Wolf, B

“…We applied and evaluated 3 statistical approaches for the detection of heterozygotes for biotinidase deficiency in a randomly selected population of French…”
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Combined pedigree and twin family study to determine the sources of variation in serum biotinidase activity: the usefulness of multiple study designs by Weissbecker, K A, Wolf, B, Eaves, L J, Marazita, M L, Nance, W E

“…Biotinidase, the enzyme responsible for recycling the vitamin biotin, is deficient in most individuals with late-onset multiple carboxylase deficiency. Based…”
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