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

Comparison of phenotype in uniparental disomy and deletion Prader-Willi syndrome: sex specific differences.

American journal of medical genetics - 16 Oct 1996

Mitchell J, Schinzel A, Langlois S, Gillessen-Kaesbach G, Schuffenhauer S, Michaelis R, Abeliovich D, Lerer I, Christian S, Guitart M, McFadden D E, Robinson W P

Abstract excerpt

Prader-Willi syndrome (PWS) results primarily from either a paternal deletion of 15q11-q13 or maternal uniparental disomy (UPD) 15. Birth parameters and clinical presentation of 79 confirmed UPD cases and 43 deletion patients were compared in order to test whether any manifestations differ between the two groups. There were no major clinical differences between the two classes analyzed as a whole, other than the...

Read the complete abstract on PubMed

Topics

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

Share to Age Factors
Share to Body Weight

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Child, Preschool

Share to Chromosome Aberrations

Share to Chromosome Deletion

Share to Chromosomes, Human, Pair 15

Share to Phenotype

Share to Sex Factors

Source

Identifiers

PMID: 8911605
DOI: 10.1002/(SICI)1096-8628(19961016)65:2<133::AID-AJMG10>3.0.CO;2-R

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Comparison of phenotype in uniparental disomy and deletion Prader-Willi syndrome: sex specific differences.PMID 8911605Read ↗

Comparison of phenotype between patients with Prader-Willi syndrome due to deletion 15q and uniparental disomy 15Semantic proximity Read ↗

Delayed diagnosis in patients with Prader-Willi syndrome due to maternal uniparental disomy 15.Semantic proximity Read ↗

Comparison of perinatal factors in deletion versus uniparental disomy in Prader-Willi syndrome.Semantic proximity Read ↗

Prader-Willi Syndrome: Clinical Genetics and Diagnostic Aspects with Treatment Approaches.Semantic proximity Read ↗

Molecular subtype and growth hormone effects on dysmorphology in Prader-Willi syndrome.Semantic proximity Read ↗

Endocrine features of Prader-Willi syndrome: a narrative review focusing on genotype-phenotype correlation.Semantic proximity Read ↗

Genotype and phenotype in patients with Prader-Willi syndrome in Taiwan.Semantic proximity Read ↗

Clinical-etiologic correlation in children with Prader-Willi syndrome (PWS): an interdisciplinary study.Semantic proximity Read ↗

Multicentre study of maternal and neonatal outcomes in individuals with Prader-Willi syndromeSemantic proximity Read ↗

Prader-Willi syndrome.Semantic proximity Read ↗

Influence of molecular classes and growth hormone treatment on growth and dysmorphology in Prader-Willi syndrome: A multicenter study.Semantic proximity Read ↗

Case of 15q26-qter deletion associated with a Prader-Willi phenotype.Semantic proximity Read ↗

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