Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Mutational study of the MAMLD1-gene in hypospadias.

European journal of medical genetics - 1 Jan 2000

Chen Yougen, Thai Hanh T T, Lundin Johanna, Lagerstedt-Robinson Kristina, Zhao Shengtian, Markljung Ellen, Nordenskjöld Agneta

Abstract excerpt

Hypospadias, when the urethral opening is situated on the ventral side of the penis, is a common genital malformation in boys and is partly caused by genetic factors. Mutations in the Mastermind-like domain containing 1 (MAMLD1 or CXorf6) gene have been reported in hypospadias cases. We have performed direct sequencing of the MAMLD1 gene in 99 sporadic hypospadias cases to further elucidate the role of this gene...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Aneuploidy
Share to DNA-Binding Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Haplotypes

Share to Hypospadias

Share to Introns

Share to Models, Genetic

Share to Nuclear Proteins

Share to Transcription Factors

Source

Identifiers

PMID: 20347055
DOI: 10.1016/j.ejmg.2010.03.005

Genes

MAMLD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutational study of the MAMLD1-gene in hypospadias.PMID 20347055Read ↗

Association of MAMLD1 single-nucleotide polymorphisms with hypospadias in Chinese Han population.Semantic proximity Read ↗

Polymorphisms of MAMLD1 gene in hypospadias.Semantic proximity Read ↗

Clinical and molecular spectrum of 46,XY disorders of sex development that harbour MAMLD1 variations: case series and review of literature.Semantic proximity Read ↗

Clinical and molecular spectrum of 46,XY disorders of sex development that harbourMAMLD1 variations: Case series and review of literatureSemantic proximity Read ↗

Screening of MAMLD1 mutations in 70 children with 46,XY DSD: identification and functional analysis of two new mutations.Semantic proximity Read ↗

Broad Phenotypes of Disorders/Differences of Sex Development in MAMLD1 Patients Through Oligogenic DiseaseSemantic proximity Read ↗

Novel Splice Site Mutation in MAMLD1 in a Patient with Hypospadias.Semantic proximity Read ↗

[Single-nucleotide polymorphisms of MAMLD1 and hypospadias in Chinese].Semantic proximity Read ↗

[Advance in research on the role of MAMLD1 gene in disorders of sex development].Semantic proximity Read ↗

MAMLD1 and Differences/Disorders of Sex Development: An Update.Semantic proximity Read ↗

Disorders of Sex Development in Individuals Harbouring MAMLD1 Variants: WES and Interactome Evidence of Oligogenic Inheritance.Semantic proximity Read ↗

MAMLD1 (CXorf6): a new gene for hypospadias.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.