A case of 18q- in a t(18q-;6p+) family

Aniridia, male pseudohermaphroditism, gonadoblastoma, mental retardation, and del 11p13.

Human genetics·2016

Novel mutation of the initiation codon of PAX9 causes oligodontia.

Journal of dental research·2004

BRCA1 and BRCA2 mutation status and cancer family history of Danish women affected with multifocal or bilateral breast cancer at a young age.

Journal of medical genetics·2001

Disease associated balanced chromosome rearrangements: a resource for large scale genotype-phenotype delineation in man.

Journal of medical genetics·2000

Localization of a human nucleoporin 155 gene (NUP155) to the 5p13 region and cloning of its cDNA.

Genomics·1999

Studies of the cranial base in 23 patients with cri-du-chat syndrome suggest a cranial developmental field involved in the condition.

American journal of medical genetics·1999

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

Embryological and Pathophysiological Perspectives on a Rare Association of Sirenomelia with Anencephaly and Spina Bifida.

Annals of African medicine·2026

Non-Genomic Actions of Testosterone Metabolites on Uterine Contractility in Rats.

Pharmaceutics·2026

Drosophila melanogaster as a Model for Autism Spectrum Disorder: Insights into Lifelong Neuronal Vulnerability.

International journal of molecular sciences·2026

Isolation and Characterization of Rabbit Spermatogonial Stem Cells as a Promising Animal Genetic Resource for Biodiversity Protection.

Biomolecules·2026

Identification and Functional Characteristics of NR5A1 Gene Variant in Patients with 46,XY Disorders of Sex Development.

Genes·2026

Three Novel de Novo SOX4 Variants Expanding the Phenotypic Spectrum: Case Series and Literature Review.

Genes·2026

Related Experiment Videos

A case of 18q- in a t(18q-;6p+) family

Related Concept Videos

Aniridia, male pseudohermaphroditism, gonadoblastoma, mental retardation, and del 11p13.

Novel mutation of the initiation codon of PAX9 causes oligodontia.

BRCA1 and BRCA2 mutation status and cancer family history of Danish women affected with multifocal or bilateral breast cancer at a young age.

Disease associated balanced chromosome rearrangements: a resource for large scale genotype-phenotype delineation in man.

Localization of a human nucleoporin 155 gene (NUP155) to the 5p13 region and cloning of its cDNA.

Studies of the cranial base in 23 patients with cri-du-chat syndrome suggest a cranial developmental field involved in the condition.

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.

Embryological and Pathophysiological Perspectives on a Rare Association of Sirenomelia with Anencephaly and Spina Bifida.

Non-Genomic Actions of Testosterone Metabolites on Uterine Contractility in Rats.

Drosophila melanogaster as a Model for Autism Spectrum Disorder: Insights into Lifelong Neuronal Vulnerability.

Isolation and Characterization of Rabbit Spermatogonial Stem Cells as a Promising Animal Genetic Resource for Biodiversity Protection.

Identification and Functional Characteristics of NR5A1 Gene Variant in Patients with 46,XY Disorders of Sex Development.

Three Novel de Novo SOX4 Variants Expanding the Phenotypic Spectrum: Case Series and Literature Review.

Related Experiment Videos

A case of 18q- in a t(18q-;6p+) family

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