Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome (Q92863416)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31448840%20AND%20SRC:MED&resulttype=core&format=json

2 May 2020

title

Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31448840%20AND%20SRC:MED&resulttype=core&format=json

2 May 2020

main subject

Contiguous gene syndrome

1 reference

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31448840%20AND%20SRC:MED&resulttype=core&format=json

2 May 2020

Claudia Gonzaga-Jauregui

1 reference

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2 May 2020

1 reference

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2 May 2020

1 reference

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2 May 2020

1 reference

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2 May 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31448840%20AND%20SRC:MED&resulttype=core&format=json

2 May 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31448840%20AND%20SRC:MED&resulttype=core&format=json

2 May 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31448840%20AND%20SRC:MED&resulttype=core&format=json

2 May 2020

Davut Pehlivan

1 reference

2 May 2020

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31448840%20AND%20SRC:MED&resulttype=core&format=json

Sau Wai Cheung

1 reference

2 May 2020

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31448840%20AND%20SRC:MED&resulttype=core&format=json

Fernanda S Coelho

1 reference

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2 May 2020

Soe S Mar

1 reference

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2 May 2020

Melanie A Manning

1 reference

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2 May 2020

SakkuBai Naidu

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31448840%20AND%20SRC:MED&resulttype=core&format=json

2 May 2020

Siddharth Srivastava

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31448840%20AND%20SRC:MED&resulttype=core&format=json

2 May 2020

Julie R Jones

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31448840%20AND%20SRC:MED&resulttype=core&format=json

2 May 2020

Michael J Friez

1 reference

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2 May 2020

Thomas Alberico

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31448840%20AND%20SRC:MED&resulttype=core&format=json

2 May 2020

Barbara Torres

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31448840%20AND%20SRC:MED&resulttype=core&format=json

2 May 2020

Ping Fang

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31448840%20AND%20SRC:MED&resulttype=core&format=json

2 May 2020

Xiaofei Song

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31448840%20AND%20SRC:MED&resulttype=core&format=json

2 May 2020

Angelique Davis-Williams

1 reference

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2 May 2020

Carly Jornlin

1 reference

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2 May 2020

Patricia A Wight

1 reference

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2 May 2020

Pankaj Patyal

1 reference

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2 May 2020

Jennifer Taube

1 reference

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2 May 2020

Andrea Poretti

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31448840%20AND%20SRC:MED&resulttype=core&format=json

2 May 2020

Ken Inoue

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31448840%20AND%20SRC:MED&resulttype=core&format=json

2 May 2020

Feng Zhang

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31448840%20AND%20SRC:MED&resulttype=core&format=json

2 May 2020

publication date

14 November 2019

1 reference

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2 May 2020

1 reference

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2 May 2020

volume

1 reference

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2 May 2020

issue

1 reference

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2 May 2020

page(s)

150-168

1 reference

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Distinct patterns of complex rearrangements and a mutational signature of microhomeology are frequently observed in PLP1 copy number gain structural variants

2 May 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6953250

Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2.

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6953250

Predicting human genes susceptible to genomic instability associated with Alu/Alu-mediated rearrangements

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6953250

Neurogenetics of Pelizaeus-Merzbacher disease

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6953250

Replication Through Repetitive DNA Elements and Their Role in Human Diseases.

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6953250

DNA structural basis for fragility at peak III of BCL2 major breakpoint region associated with t(14;18) translocation

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6953250

Efficient CNV breakpoint analysis reveals unexpected structural complexity and correlation of dosage-sensitive genes with clinical severity in genomic disorders

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6953250

An Xq22.1q22.2 nullisomy in a male patient with severe neurological impairment.

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6953250

Cellular Pathology of Pelizaeus-Merzbacher Disease Involving Chaperones Associated with Endoplasmic Reticulum Stress

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6953250

An Organismal CNV Mutator Phenotype Restricted to Early Human Development.

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6953250

Short tandem repeats, segmental duplications, gene deletion, and genomic instability in a rapidly diversified immune gene family

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6953250

A microdeletion at Xq22.2 implicates a glycine receptor GLRA4 involved in intellectual disability, behavioral problems and craniofacial anomalies

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6953250

Translocation and deletion breakpoints in cancer genomes are associated with potential non-B DNA-forming sequences

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6953250

Mechanisms underlying structural variant formation in genomic disorders

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6953250

A global reference for human genetic variation

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6953250

Decoding NF1 Intragenic Copy-Number Variations.

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6953250

Bex3 Dimerization Regulates NGF-Dependent Neuronal Survival and Differentiation by Enhancing trkA Gene Transcription

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6953250

Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3.

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6953250

Unusual presentation of pelizaeus-merzbacher disease: female patient with deletion of the proteolipid protein 1 gene

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6953250

Complex genomic rearrangements at the PLP1 locus include triplication and quadruplication

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6953250

Impact of alternative DNA structures on DNA damage, DNA repair, and genetic instability

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6953250

An emerging phenotype of Xq22 microdeletions in females with severe intellectual disability, hypotonia and behavioral abnormalities

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6953250

The role of microhomology in genomic structural variation

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6953250

The human specialized DNA polymerases and non-B DNA: vital relationships to preserve genome integrity

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6953250

Partial PLP1 deletion causing X-linked dominant spastic paraplegia type 2.

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6953250

Replicative mechanisms for CNV formation are error prone

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6953250

Genes that escape X-inactivation in humans have high intraspecific variability in expression, are associated with mental impairment but are not slow evolving.

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6953250

G-quadruplex structures formed at the HOX11 breakpoint region contribute to its fragility during t(10;14) translocation in T-cell leukemia

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6953250

Diverse mechanisms of somatic structural variations in human cancer genomes

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6953250

Molecular analysis of a deletion hotspot in the NRXN1 region reveals the involvement of short inverted repeats in deletion CNVs

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6953250

Direct and inverted repeats elicit genetic instability by both exploiting and eluding DNA double-strand break repair systems in mycobacteria

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6953250

Non-B DB v2.0: a database of predicted non-B DNA-forming motifs and its associated tools

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6953250

Somatic rearrangements across cancer reveal classes of samples with distinct patterns of DNA breakage and rearrangement-induced hypermutability

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6953250

Inverted low-copy repeats and genome instability--a genome-wide analysis

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6953250

Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A.

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6953250

Clinical and genetic characterization of a 2-year-old boy with complete PLP1 deletion

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6953250

Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6953250

Evidence for disease penetrance relating to CNV size: Pelizaeus–Merzbacher disease and manifesting carriers with a familial 11 Mb duplication at Xq22

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6953250

Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications.

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6953250

Genomic rearrangements in inherited disease and cancer

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6953250

Mutation spectrum revealed by breakpoint sequencing of human germline CNVs

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6953250

Non-B DNA structure-induced genetic instability and evolution

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6953250

The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6953250

Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6953250

Non-B DNA conformations as determinants of mutagenesis and human disease

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6953250

A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6953250

Non-B DNA conformations, mutagenesis and disease

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6953250

Non-B DNA conformations formed by long repeating tracts of myotonic dystrophy type 1, myotonic dystrophy type 2, and Friedreich's ataxia genes, not the sequences per se, promote mutagenesis in flanking regions

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6953250

Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6953250

Z-DNA-forming sequences generate large-scale deletions in mammalian cells

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6953250

Heterogeneous duplications in patients with Pelizaeus-Merzbacher disease suggest a mechanism of coupled homologous and nonhomologous recombination

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6953250

Spastic paraplegia type 2 associated with axonal neuropathy and apparent PLP1 position effect.

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6953250

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6953250

Evolution's cauldron: duplication, deletion, and rearrangement in the mouse and human genomes

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6953250

Human-mouse alignments with BLASTZ

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6953250

Genomic rearrangements resulting in PLP1 deletion occur by nonhomologous end joining and cause different dysmyelinating phenotypes in males and females

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6953250

Recent segmental duplications in the human genome

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6953250

Scoring pairwise genomic sequence alignments

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6953250

Segmental duplications: organization and impact within the current human genome project assembly

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6953250

Repbase update: a database and an electronic journal of repetitive elements

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6953250

NADE, a p75NTR-associated cell death executor, is involved in signal transduction mediated by the common neurotrophin receptor p75NTR.

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6953250

Palindrome Resolution and Recombination in the Mammalian Germ Line

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6953250

Proteolipid Protein Is Necessary in Peripheral as Well as Central Myelin

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6953250

Contiguous gene syndromes: a component of recognizable syndromes

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6953250

Complete deletion of the proteolipid protein gene (PLP) in a family with X-linked Pelizaeus-Merzbacher disease

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6953250

Characterization of a low copy repetitive element S232 involved in the generation of frequent deletions of the distal short arm of the human X chromosome

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6953250

Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6953250

Clinical and molecular studies in a family with probable X-linked dominant Charcot-Marie-Tooth disease involving the central nervous system

11 February 2021

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FHUMU.23902

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1002/HUMU.23902

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31448840%20AND%20SRC:MED&resulttype=core&format=json

2 May 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31448840%20AND%20SRC:MED&resulttype=core&format=json

2 May 2020

PubMed publication ID

31448840

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31448840%20AND%20SRC:MED&resulttype=core&format=json