Translocation breakpoint in Aarskog syndrome maps to Xp11.21 between ALAS2 and DXS323

Interacting effects of diet and environmental temperature on biochemical parameters in the liver ofLeuciscus idus melanotus (Cyprinidae: Teleostei).

Fish physiology and biochemistry·2013

Further Evidence of Contrasting Phenotypes Caused by Reciprocal Deletions and Duplications: Duplication of NSD1 Causes Growth Retardation and Microcephaly.

Molecular syndromology·2013

Investigation of TBR1 Hemizygosity: Four Individuals with 2q24 Microdeletions.

Molecular syndromology·2012

Blau syndrome (familial granulomatous arthritis, iritis, and rash) in an african-american family.

Journal of clinical rheumatology : practical reports on rheumatic & musculoskeletal diseases·2008

Depletion of CHK1, but not CHK2, induces chromosomal instability and breaks at common fragile sites.

Oncogene·2006

Genomic amplification of MET with boundaries within fragile site FRA7G and upregulation of MET pathways in esophageal adenocarcinoma.

Oncogene·2005

Optical genome mapping identifies cryptic balanced chromosomal rearrangements in karyotypically normal couples with recurrent pregnancy loss or adverse pregnancy history.

Human molecular genetics·2026

Cell-type-specific dysregulated gene expression in the frontal cortex of an Angelman syndrome pig model.

Human molecular genetics·2026

Coding, modifier, and regulatory effects shape circulating APOL1 levels.

Human molecular genetics·2026

CaMKIIβ Signaling drives expression of metabolic and stress response genes in skeletal muscle, and its loss contributes to the LGMDR1 phenotype.

Human molecular genetics·2026

Genetic and epigenetic contributors to cleft laterality: evidence from monozygotic mirror twins and replication cohorts.

Human molecular genetics·2026

Molecular analysis of individuals with suspected 46,XY differences of sex development in a homogenous and understudied population.

Human molecular genetics·2026

Cross-Ethnic Replication of Intersectin-1 as a Parkinson's Disease Susceptibility Gene in a Large Chinese Cohort.

Movement disorders : official journal of the Movement Disorder Society·2026

Chromosomal abnormalities in isolated persistent left superior vena cava: A systematic review and meta-analysis.

Turkish journal of obstetrics and gynecology·2026

The rate and spectrum of germline mutations in chicken from a commercial pedigree line.

Genetics, selection, evolution : GSE·2026

Delving into the clinical and genetic spectrum of NLSDM: A case study.

Journal of neuromuscular diseases·2026

Mutation Spectrum and Novel Rare Variants in a Han Chinese Hearing Loss Cohort Using a Tiered Sequencing Strategy.

Molecular genetics & genomic medicine·2026

Further delineation of 2p13.2-p11.2 deletion syndrome by optical genome mapping.

Neurogenetics·2026

Related Experiment Videos

Translocation breakpoint in Aarskog syndrome maps to Xp11.21 between ALAS2 and DXS323

Related Concept Videos

Interacting effects of diet and environmental temperature on biochemical parameters in the liver ofLeuciscus idus melanotus (Cyprinidae: Teleostei).

Further Evidence of Contrasting Phenotypes Caused by Reciprocal Deletions and Duplications: Duplication of NSD1 Causes Growth Retardation and Microcephaly.

Investigation of TBR1 Hemizygosity: Four Individuals with 2q24 Microdeletions.

Blau syndrome (familial granulomatous arthritis, iritis, and rash) in an african-american family.

Depletion of CHK1, but not CHK2, induces chromosomal instability and breaks at common fragile sites.

Genomic amplification of MET with boundaries within fragile site FRA7G and upregulation of MET pathways in esophageal adenocarcinoma.

Optical genome mapping identifies cryptic balanced chromosomal rearrangements in karyotypically normal couples with recurrent pregnancy loss or adverse pregnancy history.

Cell-type-specific dysregulated gene expression in the frontal cortex of an Angelman syndrome pig model.

Coding, modifier, and regulatory effects shape circulating APOL1 levels.

CaMKIIβ Signaling drives expression of metabolic and stress response genes in skeletal muscle, and its loss contributes to the LGMDR1 phenotype.

Genetic and epigenetic contributors to cleft laterality: evidence from monozygotic mirror twins and replication cohorts.

Molecular analysis of individuals with suspected 46,XY differences of sex development in a homogenous and understudied population.

Cross-Ethnic Replication of Intersectin-1 as a Parkinson's Disease Susceptibility Gene in a Large Chinese Cohort.

Chromosomal abnormalities in isolated persistent left superior vena cava: A systematic review and meta-analysis.

The rate and spectrum of germline mutations in chicken from a commercial pedigree line.

Delving into the clinical and genetic spectrum of NLSDM: A case study.

Mutation Spectrum and Novel Rare Variants in a Han Chinese Hearing Loss Cohort Using a Tiered Sequencing Strategy.

Further delineation of 2p13.2-p11.2 deletion syndrome by optical genome mapping.

Related Experiment Videos

Translocation breakpoint in Aarskog syndrome maps to Xp11.21 between ALAS2 and DXS323

Related Concept Videos

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