A de novo 10.79 Mb interstitial deletion at 2q13q14.2 involving PAX8 causing hypothyroidism and mullerian agenesis: a novel case report and literature review. (Q38284924)

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English	A de novo 10.79 Mb interstitial deletion at 2q13q14.2 involving PAX8 causing hypothyroidism and mullerian agenesis: a novel case report and literature review.	scientific article

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scholarly article

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24 February 2020

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A de novo 10.79 Mb interstitial deletion at 2q13q14.2 involving PAX8 causing hypothyroidism and mullerian agenesis: a novel case report and literature review (English)

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24 February 2020

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24 February 2020

author name string

Deqiong Ma

1

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24 February 2020

Robert Marion

2

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24 February 2020

Netra Prasad Punjabi

3

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24 February 2020

Elaine Pereira

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24 February 2020

Joy Samanich

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24 February 2020

Jianli Li

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24 February 2020

Chih-Kang Huang

8

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24 February 2020

K H Ramesh

9

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24 February 2020

Linda A Cannizzaro

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24 February 2020

Rizwan Naeem

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24 February 2020

publication date

26 November 2014

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24 February 2020

Molecular Cytogenetics

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24 February 2020

7

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24 February 2020

85

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24 February 2020

1

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24 February 2020

copyright license

Creative Commons Attribution 4.0 International

26 November 2014

1 reference

April 2022 Public Data File from Crossref

copyright status

0 references

https://scigraph.springernature.com/pub.10.1186/s13039-014-0085-4

0 references

Functional analysis of candidate genes in 2q13 deletion syndrome implicates FBLN7 and TMEM87B deficiency in congenital heart defects and FBLN7 in craniofacial malformations

1 reference

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6 September 2017

Functional characterization of a heterozygous GLI2 missense mutation in patients with multiple pituitary hormone deficiency

1 reference

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6 September 2017

Chronic cutaneous pustulosis due to a 175-kb deletion on chromosome 2q13: excellent response to anakinra

1 reference

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6 September 2017

A copy number variation morbidity map of developmental delay

1 reference

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6 September 2017

A recurrent 1.71 Mb genomic imbalance at 2q13 increases the risk of developmental delay and dysmorphism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4256837

6 September 2017

High prevalence of associated birth defects in congenital hypothyroidism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4256837

6 September 2017

A previously unidentified amino-terminal domain regulates transcriptional activity of wild-type and disease-associated human GLI2

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4256837

6 September 2017

Genetics of congenital hypothyroidism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4256837

6 September 2017

Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4256837

6 September 2017

Genomic structure and evolution of the ancestral chromosome fusion site in 2q13-2q14.1 and paralogous regions on other human chromosomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4256837

6 September 2017

Hedgehog-Gli signalling and the growth of the brain.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4256837

6 September 2017

Getting your Pax straight: Pax proteins in development and disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4256837

6 September 2017

The paired-domain transcription factor Pax8 binds to the upstream enhancer of the rat sodium/iodide symporter gene and participates in both thyroid-specific and cyclic-AMP-dependent transcription

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4256837

6 September 2017

Pax-8, a paired domain-containing protein, binds to a sequence overlapping the recognition site of a homeodomain and activates transcription from two thyroid-specific promoters

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4256837

6 September 2017

Large-scale recombination rate patterns are conserved among human populations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4256837

14 September 2017

Interstitial deletion of the long arm of chromosome 2: a case report and review of the literature

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4256837

14 September 2017

Congenital Hypothyroidism Caused by a PAX8 Gene Mutation Manifested as Sodium/Iodide Symporter Gene Defect

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4256837

23 June 2018

A new PAX8 mutation causing congenital hypothyroidism in three generations of a family is associated with abnormalities in the urogenital tract.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4256837

31 August 2018

Absence of aneuploidy and gastrointestinal tumours in a man with a chromosomal 2q13 deletion and BUB1 monoallelic deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4256837

31 August 2018

Characterization of a novel loss-of-function mutation of PAX8 associated with congenital hypothyroidism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4256837

31 August 2018

Pontine tegmental cap dysplasia with a 2q13 microdeletion involving the NPHP1 gene: insights into malformations of the mid-hindbrain.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4256837

31 August 2018

Transcription factor mutations and congenital hypothyroidism: systematic genetic screening of a population-based cohort of Japanese patients.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4256837

31 August 2018

Array-based comparative genomic hybridization analysis of 1176 consecutive clinical genetics investigations.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4256837

31 August 2018

Emerging roles for PAX8 in ovarian cancer and endosalpingeal development.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4256837

31 August 2018

Genetics of specific phenotypes of congenital hypothyroidism: a population-based approach.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4256837

31 August 2018

A transmitted deletion of 2q13 to 2q14.1 causes no phenotypic abnormalities

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4256837

31 August 2018

Hedgehog signaling is required for pituitary gland development.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4256837

31 August 2018

Association of the interleukin-1 gene cluster on chromosome 2q13 with knee osteoarthritis

1 reference

https://pubmed.ncbi.nlm.nih.gov/25484916

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

De novo interstitial deletion of the long arm of chromosome 2 in a malformed newborn with a karyotype: 46,XY,del(2)(q12q14)

1 reference

https://pubmed.ncbi.nlm.nih.gov/25484916

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Enhanced detection of clinically relevant genomic imbalances using a targeted plus whole genome oligonucleotide microarray

1 reference

https://pubmed.ncbi.nlm.nih.gov/25484916

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Neonatal screening in Europe; the situation in 2004

1 reference

https://pubmed.ncbi.nlm.nih.gov/25484916

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The human interleukin-1 alpha gene is located on the long arm of chromosome 2 at band q13

1 reference

https://pubmed.ncbi.nlm.nih.gov/25484916

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A patient with a mild holoprosencephaly spectrum phenotype and heterotaxy and a 1.3 Mb deletion encompassing GLI2

1 reference

https://pubmed.ncbi.nlm.nih.gov/25484916

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Deletions of 2q14 that include the homeobox engrailed 1 (EN1) transcription factor are compatible with a normal phenotype

1 reference

https://pubmed.ncbi.nlm.nih.gov/25484916

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

High prevalence of extrathyroid malformations in a cohort of Brazilian patients with permanent primary congenital hypothyroidism

1 reference

https://pubmed.ncbi.nlm.nih.gov/25484916

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1186/S13039-014-0085-4

1 reference

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24 February 2020

Dimensions Publication ID

0 references

1 reference

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24 February 2020

1 reference

Europe PubMed Central

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24 February 2020

ResearchGate publication ID

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