| Item Type | Name |
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Academic Article
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X-linked lissencephaly with absent corpus callosum and ambiguous genitalia.
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Academic Article
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Roberts/pseudothalidomide syndrome and normal intelligence: approaches to diagnosis and management.
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Academic Article
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X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndrome.
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Academic Article
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A novel in-frame deletion in ARX is associated with lissencephaly with absent corpus callosum and hypoplastic genitalia.
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Academic Article
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A novel mutation in the connexin 46 gene (GJA3) causes autosomal dominant zonular pulverulent cataract in a Hispanic family.
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Academic Article
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Persistent growth failure in Prader-Willi syndrome associated with short-chain acyl-CoA dehydrogenase gene variant.
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Academic Article
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Finding new etiologies of mental retardation and hypotonia: X marks the spot.
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Academic Article
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Expanding the neurologic phenotype of oculodentodigital dysplasia in a 4-generation Hispanic family.
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Academic Article
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Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome.
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Academic Article
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A novel GLRA1 mutation associated with an atypical hyperekplexia phenotype.
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Academic Article
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X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28.
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Academic Article
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Microdeletion at 4q21.3 is associated with intellectual disability, dysmorphic facies, hypotonia, and short stature.
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Academic Article
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Severe Hunter syndrome (mucopolysaccharidosis II) phenotype secondary to large deletion in the X chromosome encompassing IDS, FMR1, and AFF2 (FMR2).
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Academic Article
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Unbalanced translocation involving partial trisomy 9p and partial monosomy yq with neurodevelopmental delays.
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Academic Article
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Hemolytic jaundice due to G6PD deficiency causing kernicterus in a female newborn.
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Academic Article
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A deletion in the long arm of chromosome 18 in a child with serum carnosinase deficiency.
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Academic Article
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POMGnT1 gene alterations in a family with neurological abnormalities.
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Academic Article
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Expansion of the deletion 13q syndrome phenotype: a case report.
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Academic Article
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Autism in two females with duplications involving Xp11.22-p11.23.
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Academic Article
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X-linked myotubular myopathy: clinical observations in ten additional cases.
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Concept
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Chromosomes, Human, Y
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Concept
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Chromosomes, Human, Pair 16
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Concept
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Chromosomes, Human, Pair 17
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Concept
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Chromosome Banding
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Concept
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Chromosomes, Human, Pair 4
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Concept
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Chromosomes, Human, Pair 9
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Concept
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Chromosome Disorders
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Concept
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Chromosomes, Human, Pair 18
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Concept
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Sex Chromosomes
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Concept
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Chromosomes, Human, Pair 15
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Concept
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Chromosomes, Human, X
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Concept
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Chromosomes, Human, Pair 3
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Concept
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Chromosomes, Human, Pair 5
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Concept
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Sex Chromosome Disorders
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Concept
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Chromosome Mapping
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Concept
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Chromosome Aberrations
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Concept
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Chromosome Deletion
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Concept
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X Chromosome
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Concept
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Chromosomes, Human, Pair 13
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Academic Article
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Acquired microcephaly in blepharophimosis-ptosis-epicanthus inversus syndrome because of an interstitial 3q22.3q23 deletion.
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Academic Article
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Neurodevelopmental delays and macrocephaly in 17p13.1 microduplication syndrome.
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Academic Article
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Deletion of 16q24.1 supports a role for the ATP2C2 gene in specific language impairment.
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Concept
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Chromosome Duplication
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