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

Molecular Testing of MECP2 Gene in Rett Syndrome Phenotypes in Indian Girls.

Indian pediatrics - 15 Jun 2018

Lallar Meenakshi, Rai Archana, Srivastava Priyanka, Mandal Kausik, Gupta Neerja, Kabra Madhulika, Phadke Shubha R

Abstract excerpt

OBJECTIVE: To assess yield of MECP2 gene sequence variations analysis and large deletions in suspected cases of Rett syndrome. DESIGN: Descriptive study. SETTING: Tertiary-care medical genetics center. PATIENTS: Girls with neuroregression, postnatal microcephaly and signs and symptoms suggestive of classical and atypical Rett syndrome were classified into two groups. Group I consisted of girls with Classical and...

Read the complete abstract on PubMed

Topics

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

Share to Cross-Sectional Studies
Share to Genetic Markers

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Genetic Testing

Share to Infant

Share to Methyl-CpG-Binding Protein 2

Share to Rett Syndrome

Share to Sequence Deletion

Source

Identifiers

PMID: 29428920

Genes

MECP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Molecular Testing of MECP2 Gene in Rett Syndrome Phenotypes in Indian Girls.PMID 29428920Read ↗

Spectrum of MECP2 gene mutations in a cohort of Indian patients with Rett syndrome: report of two novel mutations.Semantic proximity Read ↗

MECP2 Mutations in the Rett Syndrome Patients from South India.Semantic proximity Read ↗

Molecular diagnosis of Rett syndrome.Semantic proximity Read ↗

Mutational analysis of methyl-CpG binding protein 2 (MECP2) gene in Indian cases of Rett syndrome.Semantic proximity Read ↗

Spectrum of MECP2 mutations in New Zealand Rett syndrome patients.Semantic proximity Read ↗

Rett Syndrome: A Timely Review From Recognition to Current Clinical Approaches and Clinical Study Updates.Semantic proximity Read ↗

Gross rearrangements in the MECP2 gene in three patients with Rett syndrome: implications for routine diagnosis of Rett syndrome.Semantic proximity Read ↗

MECP2 gene analysis in classical Rett syndrome and in patients with Rett-like features.Semantic proximity Read ↗

Rett syndrome: revised diagnostic criteria and nomenclature.Semantic proximity Read ↗

Genetic Instability and Disease Progression of Indian Rett Syndrome Patients.Semantic proximity Read ↗

Novel non-identical MECP2 mutations in Rett syndrome family: a rare presentation.Semantic proximity Read ↗

Spectrum of MECP2 mutations in Vietnamese patients with RETT syndrome.Semantic proximity Read ↗

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