"Fragile X" chromosome in normal males

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

A De Novo DHX16 Variant Associated With Neuromuscular Oculoauditory Syndrome Regulates Pre-mRNA Splicing In Vitro.

Clinical genetics·2026

Clinical and Genetic Profile of One Molecularly Confirmed and One Clinically Suspected Case of LZTR1-Related Noonan Syndrome.

Clinical genetics·2026

Chorea-Acanthocytosis Without Acanthocytosis: Sensory Neuronopathy and Epilepsy as Prominent Features From a Novel VPS13A Variant.

Clinical genetics·2026

Spinal Muscular Atrophy in Adult Neurology Services in India.

Clinical genetics·2026

Delineation of a Novel Mirror Syndrome: NFIC Variants Cause Syndromic Intellectual Disability With Macrocephaly.

Clinical genetics·2026

Expanding the Phenotypic and Functional Evidence for KCNK3 as a Neurodevelopmental Disorder Gene: A New Chinese Case and Drosophila Validation.

Clinical genetics·2026

Comparative Effects of Topical Maresin-1 and Cyclosporine A in a Capsaicin-Induced Rat Model of Neurotrophic Keratopathy.

Experimental eye research·2026

Necrosing cervical fasciitis secondary to cocaine injection in the external jugular vein.

European annals of otorhinolaryngology, head and neck diseases·2026

Mechanistic insights into charge-transfer quenching and low-barrier ESIPT in an H2S-responsive fluorescent probe: a DFT/TD-DFT study.

Spectrochimica acta. Part A, Molecular and biomolecular spectroscopy·2026

Silent ascent of injury: Cervical cord involvement in subacute posttraumatic ascending myelopathy.

Surgical neurology international·2026

Silicon dioxide vaginal gel and short-term high-risk human papillomavirus DNA detectability: A randomized controlled trial.

Acta obstetricia et gynecologica Scandinavica·2026

Indirect bilirubin mitigates tubular vacuolization and injury in experimental contrast nephropathy.

BMC nephrology·2026

Related Experiment Videos

"Fragile X" chromosome in normal males

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.

A De Novo DHX16 Variant Associated With Neuromuscular Oculoauditory Syndrome Regulates Pre-mRNA Splicing In Vitro.

Clinical and Genetic Profile of One Molecularly Confirmed and One Clinically Suspected Case of LZTR1-Related Noonan Syndrome.

Chorea-Acanthocytosis Without Acanthocytosis: Sensory Neuronopathy and Epilepsy as Prominent Features From a Novel VPS13A Variant.

Spinal Muscular Atrophy in Adult Neurology Services in India.

Delineation of a Novel Mirror Syndrome: NFIC Variants Cause Syndromic Intellectual Disability With Macrocephaly.

Expanding the Phenotypic and Functional Evidence for KCNK3 as a Neurodevelopmental Disorder Gene: A New Chinese Case and Drosophila Validation.

Comparative Effects of Topical Maresin-1 and Cyclosporine A in a Capsaicin-Induced Rat Model of Neurotrophic Keratopathy.

Necrosing cervical fasciitis secondary to cocaine injection in the external jugular vein.

Mechanistic insights into charge-transfer quenching and low-barrier ESIPT in an H2S-responsive fluorescent probe: a DFT/TD-DFT study.

Silent ascent of injury: Cervical cord involvement in subacute posttraumatic ascending myelopathy.

Silicon dioxide vaginal gel and short-term high-risk human papillomavirus DNA detectability: A randomized controlled trial.

Indirect bilirubin mitigates tubular vacuolization and injury in experimental contrast nephropathy.

Related Experiment Videos

"Fragile X" chromosome in normal males

Related Concept Videos

Related Articles