Interstitial 22q11 microdeletion excluding the ADU breakpoint in a patient with DiGeorge syndrome

[Microarray CGH: principle and use for constitutional disorders].

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie·2005

Evaluation of MDM2 and CDK4 amplification by real-time PCR on paraffin wax-embedded material: a potential tool for the diagnosis of atypical lipomatous tumours/well-differentiated liposarcomas.

The Journal of pathology·2003

LMO2-associated clonal T cell proliferation in two patients after gene therapy for SCID-X1.

Science (New York, N.Y.)·2003

CGH analysis of secondary genetic changes in Ewing tumors: correlation with metastatic disease in a series of 43 cases.

Cancer genetics and cytogenetics·2001

Comparative genomic hybridisation in mentally retarded patients with dysmorphic features and a normal karyotype.

Clinical genetics·2001

Cancer risk in heterozygotes for ataxia-telangiectasia.

International journal of cancer·2001

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

Prevalence and mechanistic origins of genome-wide ploidy abnormalities in ICSI derived human preimplantation embryos.

Human molecular genetics·2026

Myofibrillar myopathy-associated KY protein promotes muscle fibre size rescue independent of its predicted catalytic triad.

Human molecular genetics·2026

In vivo dissection of human NRXN1 isoforms reveals gain-of-function pathogenicity of schizophrenia-associated 3' deletions.

Human molecular genetics·2026

Identification of the Novel HLA-DPB1*1965:01 Allele Using PacBio Sequencing Technology.

HLA·2026

Identification of the HLA-DQB1*03:626 Allele in Two Individuals in a Western Indian Family.

HLA·2026

Sporadic Retinal Astrocytic Hamartoma Mimicking Retinoblastoma in a Child: A Case Report and Literature Review.

Clinical case reports·2026

Primary Care Recognition of Rabson-Mendenhall Syndrome Despite Absence of Classical Diabetic Symptoms.

The American journal of case reports·2026

Characterisation of the Novel HLA-A*32:207 Allele by Sequencing-Based Typing.

HLA·2026

Discovery of the Novel HLA-DQB1*05:386 Allele in a Brazilian Volunteer Donor.

HLA·2026

Related Experiment Videos

Interstitial 22q11 microdeletion excluding the ADU breakpoint in a patient with DiGeorge syndrome

Related Concept Videos

[Microarray CGH: principle and use for constitutional disorders].

Evaluation of MDM2 and CDK4 amplification by real-time PCR on paraffin wax-embedded material: a potential tool for the diagnosis of atypical lipomatous tumours/well-differentiated liposarcomas.

LMO2-associated clonal T cell proliferation in two patients after gene therapy for SCID-X1.

CGH analysis of secondary genetic changes in Ewing tumors: correlation with metastatic disease in a series of 43 cases.

Comparative genomic hybridisation in mentally retarded patients with dysmorphic features and a normal karyotype.

Cancer risk in heterozygotes for ataxia-telangiectasia.

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.

Prevalence and mechanistic origins of genome-wide ploidy abnormalities in ICSI derived human preimplantation embryos.

Myofibrillar myopathy-associated KY protein promotes muscle fibre size rescue independent of its predicted catalytic triad.

In vivo dissection of human NRXN1 isoforms reveals gain-of-function pathogenicity of schizophrenia-associated 3' deletions.

Identification of the Novel HLA-DPB1*1965:01 Allele Using PacBio Sequencing Technology.

Identification of the HLA-DQB1*03:626 Allele in Two Individuals in a Western Indian Family.

Sporadic Retinal Astrocytic Hamartoma Mimicking Retinoblastoma in a Child: A Case Report and Literature Review.

Primary Care Recognition of Rabson-Mendenhall Syndrome Despite Absence of Classical Diabetic Symptoms.

Characterisation of the Novel HLA-A*32:207 Allele by Sequencing-Based Typing.

Discovery of the Novel HLA-DQB1*05:386 Allele in a Brazilian Volunteer Donor.

Related Experiment Videos

Interstitial 22q11 microdeletion excluding the ADU breakpoint in a patient with DiGeorge syndrome

Related Concept Videos

Related Articles