Search Results - "Jenkins, E C"
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Autism severity is associated with child and maternal MAOA genotypes
Published in Clinical genetics (01-04-2011)“…Cohen IL, Liu X, Lewis MES, Chudley A, Forster‐Gibson C, Gonzalez M, Jenkins EC, Brown WT, Holden JJA. Autism severity is associated with child and maternal…”
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2
Genetic analysis of first-trimester miscarriages with a combination of cytogenetic karyotyping, microsatellite genotyping and arrayCGH
Published in Clinical genetics (01-02-2009)“…Miscarriage is the spontaneous loss of an embryo or fetus before the 20th week of pregnancy. Most miscarriages occur before the end of the first trimester (<13…”
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3
Association of autism severity with a monoamine oxidase A functional polymorphism
Published in Clinical genetics (01-09-2003)“…A functional polymorphism (the upstream variable‐number tandem repeat region, or uVNTR) in the monoamine oxidase A (MAOA) promoter region has been reported to…”
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4
Textured growth of diamond on silicon via in situ carburization and bias-enhanced nucleation
Published in Applied physics letters (15-03-1993)“…Ordered diamond films have been deposited on single-crystal silicon substrates via an in situ carburization followed by bias-enhanced nucleation. Textured…”
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5
Polycystic kidneys and del (4)(q21.1q21.3): further delineation of a distinct phenotype
Published in European journal of medical genetics (2005)“…A three year-old boy was evaluated because of growth and developmental delay, hypotonia and dysmorphic features. G-banding analysis revealed a small…”
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6
An improved method for detecting telomere size differences in T-lymphocyte interphases from older people with Down syndrome with and without mild cognitive impairment
Published in Biology methods and protocols (01-01-2017)“…Abstract Telomere size (quantified by fluorescence intensity and physical lengths) in short-term T-lymphocyte cultures from adults with Down syndrome (DS) with…”
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7
Adult fragile X syndrome: clinico-neuropathologic findings
Published in Acta neuropathologica (01-01-1985)“…Fragile X syndrome [fra (X)] is currently accepted as the second most frequent chromosomal disorder associated with developmental disability. Although next to…”
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8
Viral pharmacovigilance study of haemophiliacs receiving porcine factor VIII
Published in Haemophilia : the official journal of the World Federation of Hemophilia (01-11-2002)“…Porcine factor VIII (FVIII; Hyate:C; Speywood Biopharm Ltd, UK) has been used since 1980 for the treatment both of patients with acquired haemophilia and those…”
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9
Why are autism and the fragile-X syndrome associated ? conceptual and methodological issues
Published in American journal of human genetics (01-02-1991)“…Investigations of the association between autism and the fragile-X syndrome have yielded conflicting results with some studies indicating a strong correlation…”
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10
Proposed guidelines for diagnosis of chromosome mosaicism in amniocytes based on data derived from chromosome mosaicism and pseudomosaicism studies
Published in Prenatal diagnosis (01-07-1992)“…Currently, accepted protocol which has been developed at the Prenatal Diagnosis Laboratory of New York City (PDL) requires that when a chromosome abnormality…”
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11
An enzyme-linked immunosorbent assay for detection of porcine parvovirus in fetal tissues
Published in Journal of virological methods (01-09-1992)“…An enzyme-linked immunosorbent assay for porcine parvovirus was developed for laboratory detection of parvovirus antigen in fetal tissues and compared with the…”
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12
Parent-child dyadic gaze patterns in fragile X males and in non-fragile X males with autistic disorder
Published in Journal of child psychology and psychiatry (01-11-1989)“…Parent-child dyadic gaze patterns were examined in fragile X [fra(X)] males and in non-fra(X) autistic males across three age groups--early childhood, middle…”
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13
LiverClear: A versatile protocol for mouse liver tissue clearing
Published in STAR protocols (18-03-2022)“…Although there are numerous tissue clearing protocols, most are inadequate for clearing liver tissue. Here we present a flexible protocol for mouse liver…”
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14
Mitotic index and Alzheimerʼs disease
Published in Neuroreport (01-12-1998)“…ALZHEIMERʼS disease (AD), a progressive neurodegenerative disorder, is diagnosed definitively by increased numbers of β-amyloid plaques and neurofibrillary…”
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15
Substrate Reduction Therapy in Four Patients with Milder CLN1 Mutations and Juvenile-Onset Batten Disease Using Cysteamine Bitartrate
Published in JIMD Reports - Volume 11 (01-01-2013)“…Homozygous mutations in the gene CLN1 typically result in infantile-onset neuronal ceroid lipofuscinosis, a severe progressive neurological disorder with early…”
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16
Rapid Fragile X Carrier Screening and Prenatal Diagnosis Using a Nonradioactive PCR Test
Published in JAMA : the journal of the American Medical Association (06-10-1993)“…Objective.—To develop a rapid, nonradioactive test using the polymerase chain reaction (PCR) capable of detecting full fragile X mutations, premutations, and…”
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17
Gamow's Cyclist: A New Look at Relativistic Measurements for a Binocular Observer
Published 26-06-2019“…The visualisation of objects moving at relativistic speeds has been a popular topic of study since Special Relativity's inception. While the standard…”
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18
Longer brainstem auditory evoked response latencies of individuals with fragile X syndrome related to sedation
Published in American journal of medical genetics (18-04-1997)“…Brainstem auditory evoked response latencies were studied in 75 males (13 with fragile X syndrome, 18 with mental retardation due to other causes, and 44 with…”
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19
Polymerase chain reaction analysis of fragile X mutations
Published in Human genetics (01-09-1992)“…The mutation that underlies the fragile X syndrome is presumed to be a large expansion in the number of CGG repeats within the gene FMR-1. The unusually…”
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Further evidence for genetic heterogeneity in the fragile X syndrome
Published in Human genetics (01-04-1987)“…The X-linked fragile X [fra(X)] syndrome, associated with a fragile site at Xq27.3, is the most common Mendelian inherited form of mental deficiency…”
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