Search Results - "CANTU, J. M"
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Genetic evidence for a novel familial Alzheimer's disease locus on chromosome 14
Published in Nature genetics (01-12-1992)“…Familial Alzheimer's disease (FAD) has been shown to be genetically heterogeneous, with a very small proportion of early onset pedigrees being associated with…”
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2
Genetic linkage studies suggest that Alzheimer's disease is not a single homogeneous disorder
Published in Nature (London) (13-09-1990)“…Alzheimer's disease, a fatal neurodegenerative disorder of unknown aetiology, is usually considered to be a single disorder because of the general uniformity…”
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3
Inherited hypertrichoses
Published in Clinical genetics (01-05-2002)“…Hypertrichosis is a rare condition characterized by excessive growth of hair (terminal, vellus or lanugo) in areas of the body that are not predominantly…”
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4
Sorption of Cr(III) and Cr(VI) to K2Mn4O9 nanomaterial a study of the effect of pH, time, temperature and interferences
Published in Microchemical journal (01-07-2017)“…A Rancieite type material (K2Mn4O9) nanomaterial was synthesized and tested for the removal of chromium (III) and chromium (VI) from aqueous solutions. The…”
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5
Determination of diesel genotoxicity in firebreathers by micronuclei and nuclear abnormalities in buccal mucosa
Published in Mutation research (30-03-1998)“…Diesel or its derivatives could have aneuploidogenic and/or clastogenic activity. Hence, the genotoxicity of diesel gases has been studied, considering…”
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6
Novel Hairless Mutations in Two Kindreds with Autosomal Recessive Papular Atrichia
Published in Journal of investigative dermatology (01-12-1999)“…Papular atrichia is an autosomal recessive disorder characterized clinically by the occurrence of universal congenital alopecia and disseminated papular…”
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Mapping of the congenital generalized hypertrichosis locus to chromosome Xq24-q27.1
Published in Nature genetics (01-06-1995)“…Congenital generalized hypertrichosis (CGH) is a rare, fully penetrant X-linked dominant trait previously described in a single, multigenerational Mexican…”
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Allele frequency distributions of six Amp-FLPS (D1S80, APO-B, VWA, TH01, CSF1PO and HPRTB) in a Mexican population
Published in Forensic science international (01-11-1999)“…Six amplified fragment length polymorphisms or Amp-FLPs, two VNTRs (D1S80 and APO-B) and four STRs (VWA, TH01, CSF1PO and HPRTB), were typed in a Mexican…”
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9
Parental origin of the extra chromosomes in polysomy X
Published in Human genetics (01-10-1994)“…Five polymorphic index markers were analyzed by polymerase chain reaction (PCR) to ascertain the parental origin of the extra X chromosomes in seven polysomic…”
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10
The Myhre syndrome: report of two cases
Published in Clinical genetics (01-10-1993)“…Two unrelated patients, aged 19 and 6 years, were studied and diagnosed as having Myhre syndrome (MS). This review, together with three previous cases, permits…”
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11
Soil microbial biomass and community composition along an anthropogenic disturbance gradient within a long-leaf pine habitat
Published in Ecological indicators (01-12-2001)“…Some of the finest surviving natural habitat in the United States is on military reservations where land has been protected from development. However,…”
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12
The facio-digito-genital syndrome (Aarskog syndrome): a further delineation of the distinct radiological findings
Published in Genetic counseling (1994)“…The Aarskog syndrome is a true MCA syndrome with X-linked recessive inheritance. The clinical phenotype, and its evolution with age, have been well documented…”
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13
Copper(II) and lead(II) adsorption onto zinc sulfide nanoparticles effects of light, pH, time, temperature, and interferences
Published in International journal of environmental science and technology (Tehran) (01-08-2022)“…A ZnS nano-sorbent to remove copper(II) and lead(II) ions from aqueous solutions was prepared via a hydrothermal reaction and characterized by X-ray…”
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14
A new form of hypertrichosis inherited as an X-linked dominant trait
Published in Human genetics (01-01-1984)“…A family with a distinct form of congenital generalized hypertrichosis was studied. Males were more severely affected than females, who exhibited asymmetric…”
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15
Familial iridogoniodysgenesis and skeletal anomalies: a probable new autosomal recessive disorder
Published in Clinical genetics (01-07-2004)“…Three sibs with congenital glaucoma, skeletal anomalies, and peculiar facial appearance were studied. At birth, enlarged eyes and corneae were present in the…”
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16
SED-brachydactyly and distinctive speech: report of two new cases
Published in Genetic counseling (2007)“…We describe two unrelated patients and the mother of one of them showing clinical and radiological features as those previously described in the…”
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17
Sorbitol dehydrogenase deficiency in several pig tissues: potential implications for studies of experimental diabetes
Published in Diabetologia (01-10-1984)“…Screening for red blood cell sorbitol dehydrogenase deficiency in 12 different mammalian species was performed. A wide inter-species variability in red cell…”
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18
A new psychomotor retardation syndrome with peculiar facies and marfanoid habitus
Published in Clinical genetics (01-02-1984)“…We studied four sibs, two males and two females, who presented psychomotor retardation, typical flat facies and some features of the Marfan phenotype such as…”
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De novo t(4;5)(q3100;q2200) with del(5)(q1500q2200). Tentative delineation of a 5q monosomy syndrome and assignment of the critical segment
Published in Clinical genetics (01-01-1985)“…An 8-month-old boy with multiple malformations and psychomotor retardation was found to have a de novo t(4;5)(q1300;q2200) with del(5)(q1500q2200). The…”
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De novo del(4) (p15.32) with incomplete expression of the Wolf-Hirschhorn syndrome
Published in Clinical genetics (01-05-1986)“…A 7 7/12-year-old girl with a de novo deletion 4p15.32---pter without the typical Wolf-Hirschhorn syndrome (WHS) is presented. This observation and others from…”
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