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

De novo duplication of 18p11.21-18q12.1 in a female with anorectal malformation.

American journal of medical genetics. Part A - 1 Feb 2011

Schramm Charlotte, Draaken Markus, Bartels Enrika, Boemers Thomas M, Schmiedeke Eberhard, Grasshoff-Derr Sabine, Märzheuser Stefanie, Hosie Stuart, Holland-Cunz Stefan, Baudisch Friederike, Priebe Lutz, Hoffmann Per, Zink Alexander M, Engels Hartmut, Brockschmidt Felix F, Aretz Stefan, Nöthen Markus M, Ludwig Michael, Reutter Heiko

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to Anus, Imperforate
Share to Child
Share to Chromosome Duplication

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, Pair 18

Share to Genotype

Share to Karyotyping

Share to Phenotype

Share to Polymorphism, Single Nucleotide

Source

Identifiers

PMID: 21271671
DOI: 10.1002/ajmg.a.33820

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

De novo duplication of 18p11.21-18q12.1 in a female with anorectal malformation.PMID 21271671Read ↗

Oesophageal atresia with tracheoesophageal fistula and anal atresia in a patient with a de novo microduplication in 17q12Semantic proximity Read ↗

The Role of De Novo Variants in Formation of Human Anorectal Malformations.Semantic proximity Read ↗

Duplication of 18q21.32-q22.3 identified in a stillborn and two relatives with minimal dysmorphic features.Semantic proximity Read ↗

A novel genotype-phenotype between persistent-cloaca-related VACTERL and mutations of 8p23 and 12q23.1.Semantic proximity Read ↗

De novo interstitial deletion in the long arm of chromosome 11: a case report.Semantic proximity Read ↗

Duplication (22)(q11.22-q11.23) without coloboma and cleft lip or palate.Semantic proximity Read ↗

[Phenotypic and genetic analysis of a child featuring multiple malformations due to chromosome 18p deletion].Semantic proximity Read ↗

Chromosomal anomalies in the etiology of anorectal malformations: a review.Semantic proximity Read ↗

De novo microduplication at 22q11.21 in a patient with VACTERL associationSemantic proximity Read ↗

Trisomy 21 Children With Duodenal Atresia or Anorectal Malformation: NSQIP-P Surgical Outcomes StudySemantic proximity Read ↗

De novo dir dup/del of 18q characterized by SNP arrays and FISH in a girl child with mixed phenotypes.Semantic proximity Read ↗

ESOPHAGEAL ATRESIA WITH RECURRENT TRACHEOESOPHAGEAL FISTULAS AND MICRODUPLICATION 22q11.23.Semantic proximity Read ↗

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