DiGeorge syndrome and 22q11 rearrangements

Classification of human chromosome 21 gene-expression variations in Down syndrome: impact on disease phenotypes.

American journal of human genetics·2007

Major feeding difficulties in the first reported case of interstitial 20q11.22-q12 microdeletion and molecular cytogenetic characterization.

American journal of medical genetics. Part A·2006

Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders.

Journal of medical genetics·2006

Molecular cytogenetic analysis of five 2q37 deletions: refining the brachydactyly candidate region.

European journal of medical genetics·2006

Long-term survival in severe combined immune deficiency: the role of persistent maternal engraftment.

The Journal of pediatrics·2005

Genome-wide screening using automated fluorescent genotyping to detect cryptic cytogenetic abnormalities in children with idiopathic syndromic mental retardation.

Clinical genetics·2004

CRISPR/Cas9-based repair of a heterozygous HNF1A mutation in patient-derived hiPSCs.

Human genetics·2026

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

Conundrum resolved by optical genome mapping in a 46,XY girl with difference in sex development and skeletal anomalies.

JCEM case reports·2026

Sexual Dimorphism of ZEB1 Expression and Function in Glioblastoma.

Cells·2026

Positional cues, not Notch, direct neuroblast selection during early neurogenesis in the Drosophila embryo.

Current biology : CB·2026

The genetic landscape of hypospadias: clinical insights into inherited and de novo risk factors.

Science China. Life sciences·2026

First-trimester serum SHBG and vaspin as combined biomarkers for predicting gestational diabetes mellitus: a case-control accuracy study.

Hormone molecular biology and clinical investigation·2026

Beyond serum testosterone: Sexual experience delays the decline of sexual behavior and preserves cellular density in the medial preoptic area of gonadectomized male rats.

Behavioural processes·2026

Related Experiment Videos

DiGeorge syndrome and 22q11 rearrangements

Related Concept Videos

Classification of human chromosome 21 gene-expression variations in Down syndrome: impact on disease phenotypes.

Major feeding difficulties in the first reported case of interstitial 20q11.22-q12 microdeletion and molecular cytogenetic characterization.

Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders.

Molecular cytogenetic analysis of five 2q37 deletions: refining the brachydactyly candidate region.

Long-term survival in severe combined immune deficiency: the role of persistent maternal engraftment.

Genome-wide screening using automated fluorescent genotyping to detect cryptic cytogenetic abnormalities in children with idiopathic syndromic mental retardation.

CRISPR/Cas9-based repair of a heterozygous HNF1A mutation in patient-derived hiPSCs.

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.

Conundrum resolved by optical genome mapping in a 46,XY girl with difference in sex development and skeletal anomalies.

Sexual Dimorphism of ZEB1 Expression and Function in Glioblastoma.

Positional cues, not Notch, direct neuroblast selection during early neurogenesis in the Drosophila embryo.

The genetic landscape of hypospadias: clinical insights into inherited and de novo risk factors.

First-trimester serum SHBG and vaspin as combined biomarkers for predicting gestational diabetes mellitus: a case-control accuracy study.

Beyond serum testosterone: Sexual experience delays the decline of sexual behavior and preserves cellular density in the medial preoptic area of gonadectomized male rats.

Related Experiment Videos

DiGeorge syndrome and 22q11 rearrangements

Related Concept Videos

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