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X-Linked Periventricular Heterotopia

47 patients with FLNA associated periventricular nodular heterotopia

47 patients with FLNA associated periventricular nodular heterotopia

... Neuronal heterotopia (NH) is one of the most frequent malformations of cortical development observed in pa- tients with epilepsy ...of periventricular nodular heterotopia (PVNH) is located along the ...

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X-linked disorders with cerebellar dysgenesis

X-linked disorders with cerebellar dysgenesis

... 61. Kato M, Das S, Petras K, Kitamura K, Morohashi K, Abuelo DN, Barr M, Bonneau D, Brady AF, Carpenter NJ, Cipero KL, Frisone F, Fukuda T, Guerrini R, Iida E, Itoh M, Lewanda AF, Nanba Y, Oka A, Proud VK, Saugier- Veber ...

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Ectopic Posterior Pituitary Lobe and Periventricular Heterotopia: Cerebral Malformations with the Same Underlying Mechanism?

Ectopic Posterior Pituitary Lobe and Periventricular Heterotopia: Cerebral Malformations with the Same Underlying Mechanism?

... of periventricular heterotopia are the result of mutations in the FLN-1 gene, which are thought to affect intercellular adhesion by causing deficient cross-linking between neuronal membrane receptors and ...

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A novel X linked combined immunodeficiency disease

A novel X linked combined immunodeficiency disease

... A novel X-linked combined immunodeficiency disease was found in five living males in an extended family in the United States. The age of the affected males ranged from 2.5 to 34 yr. The most prominent ...

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Alpha thalassaemia-mental retardation, X linked

Alpha thalassaemia-mental retardation, X linked

... X-linked alpha thalassaemia mental retardation (ATR-X) syndrome in males is associated with profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassaemia. Female ...

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... With the rapid development of genome-scanning technologies [12], the structural variations in human genome were emerged and fully uncovered [13]. One type of structural variations is copy number variation (CNV) that ...

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An X-Linked Recessive Cardiomyopathy with Abnormal Mitochondria

An X-Linked Recessive Cardiomyopathy with Abnormal Mitochondria

... Pediatrics 64:24-29, 1979; X-linked recessive cardiomyopathy, ab- normal mitochondria in heart, skeletal muscle, liver, kidney, electron microscopy, transvascular endomyocar- dial biopsy[r] ...

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RICKETS AND MYOPATHY CURED BY REMOVAL OF A NONOSSIFYING FIBROMA OF BONE

RICKETS AND MYOPATHY CURED BY REMOVAL OF A NONOSSIFYING FIBROMA OF BONE

... parathyroid hormone-sensitive component of phosphate transport in X-linked hypophos- phatemia. Arnaud, C., Glonieux, F., and Scriver, C.: Serum parathyroid hormone in X-linked hypophosph[r] ...

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Skewed X-inactivation in a Female Carrier with X-linked Chronic Granulomatous Disease

Skewed X-inactivation in a Female Carrier with X-linked Chronic Granulomatous Disease

... with X-linked-CGD attributed to an extremely skewed X- chromosome ...juvenile-onset X linked-CGD, caused by a de novo mutation and extremely skewed X-inactivation, whose clinical ...

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A Genome-Wide Survey of Hybrid Incompatibility Factors by the Introgression of Marked Segments of Drosophila mauritiana Chromosomes into Drosophila simulans

A Genome-Wide Survey of Hybrid Incompatibility Factors by the Introgression of Marked Segments of Drosophila mauritiana Chromosomes into Drosophila simulans

... male hybrids are fertile (while males are sterile) not because their X-linked sterility factors are recessive, but rather because they either have no X-linked female ste- rilit[r] ...

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FGF23 and its role in X-linked hypophosphatemia-related morbidity

FGF23 and its role in X-linked hypophosphatemia-related morbidity

... Background: X-linked hypophosphatemia (XLH) is an inherited disease of phosphate metabolism in which inactivating mutations of the Phosphate Regulating Endopeptidase Homolog, X-Linked (PHEX) ...

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A novel stop mutation (p.(Gln22*)) of DAX1 (NR0B1) results in late-onset X-linked adrenal hypoplasia congenita

A novel stop mutation (p.(Gln22*)) of DAX1 (NR0B1) results in late-onset X-linked adrenal hypoplasia congenita

... The cases with missense mutations seem similar in phenotype, because all cases (cases 4, 5, 9 and 10) initially reported signs of adrenal insufficiency (Table 2). Case 5 had a missense mutation in the putative LBD (5), ...

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A further education college as a heterotopia

A further education college as a heterotopia

... The role of FE is changing, from supporting apprenticeships (1970s) to teaching arts and craft evening classes (1980s) to last chance/second chance (1990s) to the most recent developments in meeting the skill needs of ...

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Prevention of Periventricular Hemorrhage

Prevention of Periventricular Hemorrhage

... Randomized low-dose indomethacin trial for prevention of intraventricular hemorrhage in very low birth weight neonates.. Rennie JM, Doyle J, Cooke RW.[r] ...

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JM2, encoding a fork head–related protein, is mutated in X linked autoimmunity–allergic disregulation syndrome

JM2, encoding a fork head–related protein, is mutated in X linked autoimmunity–allergic disregulation syndrome

... the X chromosome mark- ers: DXS1223, DXS1068, DXS6810, DXS7132, DXS6800, DXS6789, DXS6797, DXS1047, and DXS7127, which cover an estimated 76 cM interval on the X chromosome on the sex-averaged Marshfield ...

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Disruption of a conserved region of Xist exon 1 impairs Xist RNA localisation and X linked gene silencing during random and imprinted X chromosome inactivation

Disruption of a conserved region of Xist exon 1 impairs Xist RNA localisation and X linked gene silencing during random and imprinted X chromosome inactivation

... of X inactivation: imprinted X inactivation of the paternal X chromosome initiated in early preimplantation embryos and persisting in extra-embryonic trophectoderm and primitive endoderm lineages; ...

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Cities of otherness:the smart city as a heterotopia

Cities of otherness:the smart city as a heterotopia

... The following principles characterise heterotopia as being capable of juxtaposing in a single real place, several different spaces, several sites that are in themselves incompatible. Foucault, used Oriental ...

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Subcortical heterotopia: a distinct clinicoradiologic entity

Subcortical heterotopia: a distinct clinicoradiologic entity

... the heterotopia was ab- normal in all patients in this ...bilateral heterotopia, abnormally small gyri were identified, prompting a diagno- sis of polymicrogyria (Fig ...the heterotopia (Figs 1 and ...

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Cities of otherness:the smart city as a heterotopia

Cities of otherness:the smart city as a heterotopia

... Heterotopias are often linked to slices in time. This fourth principle when applied to the ‘smart city’ helps us to unpack another feature in the urban smart city process – time or temporality. Foucault marks this ...

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The Causes of Synonymous Rate Variation in the Rodent Genome: Can Substitution Rates Be Used to Estimate the Sex Bias in Mutation Rate?

The Causes of Synonymous Rate Variation in the Rodent Genome: Can Substitution Rates Be Used to Estimate the Sex Bias in Mutation Rate?

... Miyata et al. have suggested that the male-to-female mutation rate ratio (a) can be estimated by comparing the neutral substitution rates of X-linked (X), Y-linked (Y), and autosomal (A) ...

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