Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome: New Report with a 197-kb Deletion Upstream of FOXL2 and Review of the Literature (Q92698683)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31191203%20AND%20SRC:MED&resulttype=core&format=json

1 May 2020

title

Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome: New Report with a 197-kb Deletion Upstream of FOXL2 and Review of the Literature (English)

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1 May 2020

Veronica Bertini

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1 May 2020

Angelo Valetto

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1 May 2020

Fulvia Baldinotti

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1 May 2020

Alessia Azzarà

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1 May 2020

Francesca Cambi

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1 May 2020

Benedetta Toschi

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1 May 2020

Alessandro Giacomina

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1 May 2020

Gian L Gatti

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1 May 2020

Simone Gana

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1 May 2020

Maria A Caligo

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1 May 2020

Silvano Bertelloni

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1 May 2020

publication date

20 March 2019

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1 May 2020

published in

Molecular syndromology

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1 May 2020

volume

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1 May 2020

issue

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1 May 2020

page(s)

147-153

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Normative Basal Values of Hormones and Proteins of Gonadal and Adrenal Functions from Birth to Adulthood

1 May 2020

cites work

1 reference

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Copb2 is essential for embryogenesis and hypomorphic mutations cause human microcephaly

11 February 2021

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Accuracy of Endocrine Tests for Detecting Hypogonadotropic Hypogonadism in Girls

11 February 2021

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AMH as Predictor of Premature Ovarian Insufficiency: A Longitudinal Study of 120 Turner Syndrome Patients.

11 February 2021

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Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions

11 February 2021

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Acquired microcephaly in blepharophimosis-ptosis-epicanthus inversus syndrome because of an interstitial 3q22.3q23 deletion

11 February 2021

1 reference

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Disruption of long-range gene regulation in human genetic disease: a kaleidoscope of general principles, diverse mechanisms and unique phenotypic consequences

11 February 2021

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Microhomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domain

11 February 2021

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DECIPHER: web-based, community resource for clinical interpretation of rare variants in developmental disorders

11 February 2021

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Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathy

11 February 2021

1 reference

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Neonatal anthropometric charts: the Italian neonatal study compared with other European studies.

11 February 2021

1 reference

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FOXL2 copy number changes in the molecular pathogenesis of BPES: unique cohort of 17 deletions

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6528085

Disease-causing 7.4 kb cis-regulatory deletion disrupting conserved non-coding sequences and their interaction with the FOXL2 promotor: implications for mutation screening

11 February 2021

1 reference

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Sonographic assessment of uterine and ovarian development in normal girls aged 1 to 12 years

11 February 2021

1 reference

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FOXL2 mutations and genomic rearrangements in BPES.

11 February 2021

1 reference

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Antenatal mitochondrial disease caused by mitochondrial ribosomal protein (MRPS22) mutation

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6528085

Interstitial deletion in 3q in a patient with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and microcephaly, mild mental retardation and growth delay: clinical report and review of the literature.

11 February 2021

1 reference

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Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in blepharophimosis syndrome

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6528085

FOXL2 inactivation by a translocation 171 kb away: analysis of 500 kb of chromosome 3 for candidate long-range regulatory 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=6528085

The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6528085

Identification of BPESC1, a novel gene disrupted by a balanced chromosomal translocation, t(3;4)(q23;p15.2), in a patient with BPES.

11 February 2021

1 reference

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Molecular Cytogenetic Evaluation in a Patient with a Translocation (3;21) Associated with Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome (BPES)

11 February 2021

1 reference

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Assignment of the cellular retinol-binding protein 1 gene (RBP1) and of the coatomer beta subunit gene (COPB2) to human chromosome band 3q23 by in situ hybridization

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6528085

Hypergonadotropic hypogonadism in a 3-year-old girl with blepharophimosis, ptosis, and epicanthus inversus syndrome

11 February 2021

1 reference

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The blepharophimosis, ptosis, and epicanthus inversus syndrome: delineation of two types

11 February 2021

1 reference

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11 February 2021

Identifiers

DOI

10.1159/000497092

1 reference

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1 May 2020

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1 May 2020

PubMed publication ID

31191203

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