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

Resolving a genetic paradox throughout preimplantation genetic diagnosis for autosomal dominant severe congenital neutropenia.

Prenatal diagnosis - 1 Mar 2010

Malcov Mira, Reches Adi, Ben-Yosef Dalit, Cohen Tania, Amit Ami, Dgany Orly, Tamary Hannah, Yaron Yuval

Abstract excerpt

OBJECTIVE: Severe congenital neutropenia is an inherited disease characterized by low peripheral blood neutrophils, amenable to bone marrow transplantation. Genetic analysis in the family here described detected a ELA2 splice-site mutation in the affected child and also in his asymptomatic father. The parents requested preimplantation genetic diagnosis (PGD), coupled with HLA matching, to obtain a suitable bone...

Read the complete abstract on PubMed

Topics

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

Share to Fathers
Share to Fertilization in Vitro

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Leukocyte Count

Share to Neutropenia

Share to Neutrophils

Share to Preimplantation Diagnosis

Share to RNA Splice Sites

Share to Spermatozoa

Source

Identifiers

PMID: 20049848
DOI: 10.1002/pd.2437

Genes

PGD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Resolving a genetic paradox throughout preimplantation genetic diagnosis for autosomal dominant severe congenital neutropenia.PMID 20049848Read ↗

Strong evidence for autosomal dominant inheritance of severe congenital neutropenia associated with ELA2 mutations.Semantic proximity Read ↗

Cyclic neutropenia and severe congenital neutropenia in patients with a shared ELANE mutation and paternal haplotype: evidence for phenotype determination by modifying genes.Semantic proximity Read ↗

A patient with severe congenital neutropenia harbors a missense ELANE mutation due to paternal germline mosaicism.Semantic proximity Read ↗

Screening of genetic variants in ELANE mutation negative congenital neutropenia by next generation sequencing.Semantic proximity Read ↗

Paternal germline mosaicism of a missense mutation in ELANE in a Chinese male with severe congenital neutropeniaSemantic proximity Read ↗

[Clinical and genetic analysis of two patients with congenital neutropenia caused by ELANE gene mutation].Semantic proximity Read ↗

Mutations in the ELA2 gene correlate with more severe expression of neutropenia: a study of 81 patients from the French Neutropenia Register.Semantic proximity Read ↗

Spectrum of ELANE mutations in congenital neutropenia: a single-centre study in patients of Indian origin.Semantic proximity Read ↗

Heterozygous M1V variant of ELA-2 gene mutation associated with G-CSF refractory severe congenital neutropenia.Semantic proximity Read ↗

Digenic mutations in severe congenital neutropenia.Semantic proximity Read ↗

De Novo Deep Intron ELANE Mutation Resulting in Severe Congenital Neutropenia.Semantic proximity Read ↗

Prevalence of mutations in ELANE, GFI1, HAX1, SBDS, WAS and G6PC3 in patients with severe congenital neutropenia.Semantic proximity Read ↗

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