The fragile site on the long arm of chromosome 16

Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11.

Clinical genetics·2008

Supernumerary marker chromosome 5 diagnosed by M-FISH in a child with congenital heart defect and unusual face.

Cytogenetic and genome research·2006

Direct duplication of 8p21.3-->p23.1: a cytogenetic anomaly associated with developmental delay without consistent clinical features.

American journal of medical genetics·2001

Angelman syndrome with uniparental disomy due to paternal meiosis II nondisjunction.

Clinical genetics·1999

Pregnancy in patients with well-treated beta-thalassemia: outcome for mothers and newborn infants.

American journal of obstetrics and gynecology·1999

Partial trisomy 17q22-qter and partial monosomy Xq27-qter in a girl with a de novo unbalanced translocation due to a postzygotic error: case report and review of the literature on partial trisomy 17qter.

American journal of medical genetics·1997

Intranuclear arrangement of human chromosome 12 is reflected in metaphase chromosomes as non-random bending.

Annales de genetique·2004

Trisomy 4 associated with double minute chromosomes and MYC amplification in acute myeloblastic leukemia.

Annales de genetique·2004

Large duplication 4q25-q34 with mild clinical effect.

Annales de genetique·2004

A submicroscopic unbalanced subtelomeric translocation t(2p;10q) identified by fluorescence in situ hybridization: fetus with increased nuchal translucency and normal standard karyotype with later growth and developmental delay, rhombencephalosynapsis (RES).

Annales de genetique·2004

Partial trisomy 8q and partial monosomy 18p: a case report.

Annales de genetique·2004

Partial trisomy 18q11.2-->qter due to de novo unbalanced translocation of chromosomes 15 and 18 analyzed by fluorescence in situ hybridization.

Annales de genetique·2004

Long-read sequencing resolves complex CYP21A2 variants and identifies 2+0 carriers in 21-hydroxylase deficiency.

The Journal of molecular diagnostics : JMD·2026

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

Human molecular genetics·2026

Assessing the Effects of Childhood and Adult Body Mass Index on Diabetic Retinopathy Risk: A Mendelian Randomization Study.

Endocrine, metabolic & immune disorders drug targets·2026

Whole-brain chemosensory responses of both C. elegans sexes.

Current biology : CB·2026

Clinical and functional characterization of 27 Chinese patients with 46, XY disorders of sex development caused by novel NR5A1 variants.

Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation·2026

Infantile Epileptic Spasms Syndrome Complicating Mosaic Down-Turner Syndrome: A Case Report.

Clinical case reports·2026

Related Experiment Videos

The fragile site on the long arm of chromosome 16

Related Concept Videos

Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11.

Supernumerary marker chromosome 5 diagnosed by M-FISH in a child with congenital heart defect and unusual face.

Direct duplication of 8p21.3-->p23.1: a cytogenetic anomaly associated with developmental delay without consistent clinical features.

Angelman syndrome with uniparental disomy due to paternal meiosis II nondisjunction.

Pregnancy in patients with well-treated beta-thalassemia: outcome for mothers and newborn infants.

Partial trisomy 17q22-qter and partial monosomy Xq27-qter in a girl with a de novo unbalanced translocation due to a postzygotic error: case report and review of the literature on partial trisomy 17qter.

Intranuclear arrangement of human chromosome 12 is reflected in metaphase chromosomes as non-random bending.

Trisomy 4 associated with double minute chromosomes and MYC amplification in acute myeloblastic leukemia.

Large duplication 4q25-q34 with mild clinical effect.

A submicroscopic unbalanced subtelomeric translocation t(2p;10q) identified by fluorescence in situ hybridization: fetus with increased nuchal translucency and normal standard karyotype with later growth and developmental delay, rhombencephalosynapsis (RES).

Partial trisomy 8q and partial monosomy 18p: a case report.

Partial trisomy 18q11.2-->qter due to de novo unbalanced translocation of chromosomes 15 and 18 analyzed by fluorescence in situ hybridization.

Long-read sequencing resolves complex CYP21A2 variants and identifies 2+0 carriers in 21-hydroxylase deficiency.

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

Assessing the Effects of Childhood and Adult Body Mass Index on Diabetic Retinopathy Risk: A Mendelian Randomization Study.

Whole-brain chemosensory responses of both C. elegans sexes.

Clinical and functional characterization of 27 Chinese patients with 46, XY disorders of sex development caused by novel NR5A1 variants.

Infantile Epileptic Spasms Syndrome Complicating Mosaic Down-Turner Syndrome: A Case Report.

Related Experiment Videos

The fragile site on the long arm of chromosome 16

Abstract:

Related Concept Videos

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