Non-coding variation in disorders of sex development. (Q38995934)

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26 March 2020

review article

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title

Non-coding variation in disorders of sex development (English)

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Berenice Bilharinho Mendonça

26 March 2020

author

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26 March 2020

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D Baetens

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26 March 2020

H Verdin

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E De Baere

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publication date

1 February 2017

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26 March 2020

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volume

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issue

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page(s)

163-172

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Control of sex development

26 March 2020

cites work

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New Technologies for the Identification of Novel Genetic Markers of Disorders of Sex Development (DSD)

21 January 2018

1 reference

Using ROADMAP Data to Identify Enhancers Associated with Disorders of Sex Development

21 January 2018

1 reference

Long-range control of gene expression: emerging mechanisms and disruption in disease

21 January 2018

1 reference

Looking beyond the genes: the role of non-coding variants in human disease

21 January 2018

1 reference

Non-coding genetic variants in human disease

21 January 2018

1 reference

XY sex reversal associated with a deletion 5' to the SRY "HMG box" in the testis-determining region

21 January 2018

1 reference

Loss of sequences 3' to the testis-determining gene, SRY, including the Y pseudoautosomal boundary associated with partial testicular determination.

21 January 2018

1 reference

Mutation analysis of the 2 kb 5' to SRY in XY females and XY intersex subjects.

21 January 2018

1 reference

Conservation of Y chromosome-specific sequences immediately 5′ to the testis determining gene in primates

21 January 2018

1 reference

Identification of conserved potentially regulatory sequences of the SRY gene from 10 different species of mammals.

21 January 2018

1 reference

A naturally occurring deletion in the SRY promoter region affecting the Sp1 binding site is associated with sex reversal

21 January 2018

1 reference

New insights into SRY regulation through identification of 5' conserved sequences

21 January 2018

1 reference

Deletion of long-range regulatory elements upstream of SOX9 causes campomelic dysplasia

21 January 2018

1 reference

Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development

21 January 2018

1 reference

Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence

21 January 2018

1 reference

Pierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2

21 January 2018

1 reference

Duplications of noncoding elements 5' of SOX9 are associated with brachydactyly-anonychia.

21 January 2018

1 reference

Comparative genomics of the SOX9 region in human and Fugu rubripes: conservation of short regulatory sequence elements within large intergenic regions

21 January 2018

1 reference

Screening of the 1 Mb SOX9 5' control region by array CGH identifies a large deletion in a case of campomelic dysplasia with XY sex reversal

21 January 2018

1 reference

Position effects due to chromosome breakpoints that map approximately 900 Kb upstream and approximately 1.3 Mb downstream of SOX9 in two patients with campomelic dysplasia

21 January 2018

1 reference

Chromosome conformation capture-on-chip analysis of long-range cis-interactions of the SOX9 promoter.

21 January 2018

1 reference

Long-range upstream and downstream enhancers control distinct subsets of the complex spatiotemporal Sox9 expression pattern

21 January 2018

1 reference

Copy number variation of two separate regulatory regions upstream of SOX9 causes isolated 46,XY or 46,XX disorder of sex development.

21 January 2018

1 reference

RevSex duplication-induced and sex-related differences in the SOX9 regulatory region chromatin landscape in human fibroblasts.

21 January 2018

1 reference

Topological domains in mammalian genomes identified by analysis of chromatin interactions

21 January 2018

1 reference

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

21 January 2018

1 reference

Identification of SOX3 as an XX male sex reversal gene in mice and humans

21 January 2018

1 reference

A region of human chromosome 9p required for testis development contains two genes related to known sexual regulators.

21 January 2018

1 reference

Expression of Dmrt1 in the genital ridge of mouse and chicken embryos suggests a role in vertebrate sexual development

21 January 2018

1 reference

A new submicroscopic deletion that refines the 9p region for sex reversal

21 January 2018

1 reference

Characterization of deletions at 9p affecting the candidate regions for sex reversal and deletion 9p syndrome by MLPA

21 January 2018

1 reference

Deletion of the ANKRD15 gene at 9p24.3 causes parent-of-origin-dependent inheritance of familial cerebral palsy

21 January 2018

1 reference

Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism

21 January 2018

1 reference

A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal

21 January 2018

1 reference

Male-to-female sex reversal associated with an approximately 250 kb deletion upstream of NR0B1 (DAX1).

21 January 2018

1 reference

X-linked congenital adrenal hypoplasia with hypogonadotropic hypogonadism caused by an inversion disrupting a conserved noncoding element upstream of the NR0B1 (DAX1) gene

21 January 2018

1 reference

A Recurrent Germline Mutation in the 5'UTR of the Androgen Receptor Causes Complete Androgen Insensitivity by Activating Aberrant uORF Translation

21 January 2018

1 reference

Complete androgen insensitivity syndrome caused by a deep intronic pseudoexon-activating mutation in the androgen receptor gene

21 January 2018

1 reference

Novel (60%) and recurrent (40%) androgen receptor gene mutations in a series of 59 patients with a 46,XY disorder of sex development

21 January 2018

1 reference

A transgenic insertion upstream of sox9 is associated with dominant XX sex reversal in the mouse

21 January 2018

1 reference

Long-range activation of Sox9 in Odd Sex (Ods) mice.

21 January 2018

1 reference

Sox9 duplications are a relevant cause of Sry-negative XX sex reversal dogs.

21 January 2018

1 reference

Copy number variation in the region harboring SOX9 gene in dogs with testicular/ovotesticular disorder of sex development (78,XX; SRY-negative)

21 January 2018

1 reference

A Revised Genome Assembly of the Region 5' to Canine SOX9 Includes the RevSex Orthologous Region.

21 January 2018

1 reference

A 11.7-kb deletion triggers intersexuality and polledness in goats

21 January 2018

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FOXL2 is a female sex-determining gene in the goat

21 January 2018

1 reference

Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype--phenotype correlation

21 January 2018

1 reference

FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

FOXL2 mutation screening in a large panel of POF patients and XX males

21 January 2018

1 reference

A piggyBac insertion disrupts Foxl2 expression that mimics BPES syndrome in mice

21 January 2018

1 reference

A clinical and genetic study of campomelic dysplasia

21 January 2018

1 reference

Familial acampomelic form of campomelic dysplasia caused by a 960 kb deletion upstream of SOX9

21 January 2018

1 reference

Copy number variation in patients with disorders of sex development due to 46,XY gonadal dysgenesis

21 January 2018

1 reference

Familial 46,XY sex reversal without campomelic dysplasia caused by a deletion upstream of the SOX9 gene

21 January 2018

1 reference

ASOX9Duplication and Familial 46,XX Developmental Testicular Disorder

21 January 2018

1 reference

XX males SRY negative: a confirmed cause of infertility

21 January 2018

1 reference

A rare case of 46, XX SRY-negative male with approximately 74-kb duplication in a region upstream of SOX9.

21 January 2018

1 reference

Campomelic dysplasia associated with a de novo 2q;17q reciprocal translocation

21 January 2018

1 reference

Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene

21 January 2018

1 reference

Campomelic dysplasia translocation breakpoints are scattered over 1 Mb proximal to SOX9: evidence for an extended control region

21 January 2018

1 reference

Assignment of an autosomal sex reversal locus (SRA1) and campomelic dysplasia (CMPD1) to 17q24.3-q25.1

21 January 2018

1 reference

Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9

21 January 2018

1 reference

Translocation breakpoints in three patients with campomelic dysplasia and autosomal sex reversal map more than 130 kb from SOX9.

21 January 2018

1 reference

Isolation of a testis-specific cDNA on chromosome 17q from a region adjacent to the breakpoint of t(12;17) observed in a patient with acampomelic campomelic dysplasia and sex reversal

21 January 2018

1 reference

A somatic cell hybrid panel for distal 17q: GDIA1 maps to 17q25.3

21 January 2018

1 reference

Fine mapping of chromosome 17 translocation breakpoints > or = 900 Kb upstream of SOX9 in acampomelic campomelic dysplasia and a mild, familial skeletal dysplasia

21 January 2018

1 reference

Acampomelic campomelic dysplasia with de novo 5q;17q reciprocal translocation and severe phenotype

21 January 2018

1 reference

Two novel translocation breakpoints upstream of SOX9 define borders of the proximal and distal breakpoint cluster region in campomelic dysplasia

21 January 2018

1 reference

Translocation and deletion around SOX9 in a patient with acampomelic campomelic dysplasia and sex reversal

21 January 2018

1 reference

Interchromosomal Insertional Translocation at Xq26.3 AltersSOX3Expression in an Individual With XX Male Sex Reversal

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1111/CGE.12911

1 reference

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26 March 2020

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