Autosomal lesions versus fragile sites

An association between skewed X-chromosome inactivation and abnormal outcome in mosaic trisomy 16 confined predominantly to the placenta.

Clinical genetics·2001

Survey of the fragile X syndrome CGG repeat and the short-tandem-repeat and single-nucleotide-polymorphism haplotypes in an African American population.

American journal of human genetics·2000

Characterization and clinical implications of marker chromosomes identified at prenatal diagnosis.

Prenatal diagnosis·2000

Isolated bilateral anophthalmia in a girl with an apparently balanced de novo translocation: 46,XX,t(3;11)(q27;p11.2).

American journal of medical genetics·1999

Longitudinal assessment of adaptive and maladaptive behaviors in fragile X males: growth, development, and profiles.

American journal of medical genetics·1999

Age-related language characteristics of children and adolescents with fragile X syndrome.

American journal of medical genetics·1999

TTC14 dysfunction contributing to microcephaly and lissencephaly spectrum features through protein mislocalization and impaired RNA processing.

Human genetics·2026

The Russian FSHD registry: a first look at the cohort.

Human genetics·2026

Genetic ancestry of the Mulam ethnic group: admixture from ancient Yellow River, southern native, and Austronesian populations.

Human genetics·2026

Identification of novel loci regulating circulating melatonin and its causal relationship with hypertension.

Human genetics·2026

α-Thalassemia in Oraons-indigenous tribal population from Jharkhand, India: insights to common deletions.

Human genetics·2026

Discovery of a DNA methylation episignature for Weiss-Kruszka syndrome.

Human genetics·2026

Pili Annulati: A Case Series and Proposal for Classification.

Skin appendage disorders·2026

ß-Globin gene cluster haplotypes in Moroccan sickle cell disease patients: diversity pilot study.

African health sciences·2026

Deriving BMI-referenced, sex-specific fat mass index cutoff values in older Saudi adults: a cross-sectional secondary analysis.

Frontiers in nutrition·2026

Associations of intermediate hyperglycemia with elevated abdominal obesity, high-sensitivity C-reactive protein, and leptin in Korean adults.

Journal of Korean biological nursing science·2026

Child-to-adult body size trajectories and risk of rheumatoid arthritis: the mediating role of metabolic unhealthiness, low-grade inflammation, and the modifying effect of genetic susceptibility.

Journal of autoimmunity·2026

Bestrophinopathies: Clinical Characteristics, Natural History, and Genetic Landscape.

Ophthalmology. Retina·2026

Related Experiment Videos

Autosomal lesions versus fragile sites

Related Concept Videos

An association between skewed X-chromosome inactivation and abnormal outcome in mosaic trisomy 16 confined predominantly to the placenta.

Survey of the fragile X syndrome CGG repeat and the short-tandem-repeat and single-nucleotide-polymorphism haplotypes in an African American population.

Characterization and clinical implications of marker chromosomes identified at prenatal diagnosis.

Isolated bilateral anophthalmia in a girl with an apparently balanced de novo translocation: 46,XX,t(3;11)(q27;p11.2).

Longitudinal assessment of adaptive and maladaptive behaviors in fragile X males: growth, development, and profiles.

Age-related language characteristics of children and adolescents with fragile X syndrome.

TTC14 dysfunction contributing to microcephaly and lissencephaly spectrum features through protein mislocalization and impaired RNA processing.

The Russian FSHD registry: a first look at the cohort.

Genetic ancestry of the Mulam ethnic group: admixture from ancient Yellow River, southern native, and Austronesian populations.

Identification of novel loci regulating circulating melatonin and its causal relationship with hypertension.

α-Thalassemia in Oraons-indigenous tribal population from Jharkhand, India: insights to common deletions.

Discovery of a DNA methylation episignature for Weiss-Kruszka syndrome.

Pili Annulati: A Case Series and Proposal for Classification.

ß-Globin gene cluster haplotypes in Moroccan sickle cell disease patients: diversity pilot study.

Deriving BMI-referenced, sex-specific fat mass index cutoff values in older Saudi adults: a cross-sectional secondary analysis.

Associations of intermediate hyperglycemia with elevated abdominal obesity, high-sensitivity C-reactive protein, and leptin in Korean adults.

Child-to-adult body size trajectories and risk of rheumatoid arthritis: the mediating role of metabolic unhealthiness, low-grade inflammation, and the modifying effect of genetic susceptibility.

Bestrophinopathies: Clinical Characteristics, Natural History, and Genetic Landscape.

Related Experiment Videos

Autosomal lesions versus fragile sites

Related Concept Videos

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