(Q24672616)

English

Sorting nexin 3 (SNX3) is disrupted in a patient with a translocation t(6;13)(q21;q12) and microcephaly, microphthalmia, ectrodactyly, prognathism (MMEP) phenotype

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scholarly article

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Sorting nexin 3 (SNX3) is disrupted in a patient with a translocation t(6;13)(q21;q12) and microcephaly, microphthalmia, ectrodactyly, prognathism (MMEP) phenotype (English)

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based on heuristic

inferred from title

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author name string

V S Vervoort

1

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D Viljoen

2

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R Smart

3

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G Suthers

4

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B R DuPont

5

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A Abbott

6

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C E Schwartz

7

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language of work or name

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publication date

December 2002

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Journal of Medical Genetics

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39

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12

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893-9

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The p63 gene in EEC and other syndromes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757218

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757218

7 April 2017

Identification of a family of sorting nexin molecules and characterization of their association with receptors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757218

7 April 2017

Genomic structure, chromosomal localization, start of transcription, and tissue expression of the human p40-phox, a new component of the nicotinamide adenine dinucleotide phosphate-oxidase complex

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757218

7 April 2017

Cloning of the cDNA and functional expression of the 47-kilodalton cytosolic component of human neutrophil respiratory burst oxidase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757218

7 April 2017

Bilateral split hand and split foot malformation in a boy with a de novo interstitial deletion of 7q21.3.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757218

7 April 2017

Retrieval of resident late-Golgi membrane proteins from the prevacuolar compartment of Saccharomyces cerevisiae is dependent on the function of Grd19p.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757218

7 April 2017

Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757218

7 April 2017

Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757218

7 April 2017

Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757218

28 September 2017

Fine mapping of the split-hand/split-foot locus (SHFM3) at 10q24: evidence for anticipation and segregation distortion.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757218

28 September 2017

Refined mapping of a gene for split hand-split foot malformation (SHFM3) on chromosome 10q25

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757218

28 September 2017

Interstitial deletion of the long arm of chromosome 6 associated with unusual limb anomalies: report of two new patients 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=1757218

28 September 2017

Heterochromatin and gene expression in Drosophila

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757218

28 September 2017

A split hand-split foot (SHFM3) gene is located at 10q24-->25.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757218

28 September 2017

A second autosomal split hand/split foot locus maps to chromosome 10q24-q25.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757218

28 September 2017

Deletion (X)(q26.1-->q28) in a proband and her mother: molecular characterization and phenotypic-karyotypic deductions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757218

28 September 2017

Deletion of chromosome 2q24-q31 causes characteristic digital anomalies: case report and review

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757218

28 September 2017

Split foot and developmental retardation associated with a deletion of three microsatellite markers in 7q21.2‐q22.1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757218

28 September 2017

Allan-Herndon syndrome. II. Linkage to DNA markers in Xq21

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757218

28 September 2017

New insights into the phenotypes of 6q deletions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757218

28 September 2017

Identification of cryptic rearrangements in patients with 18q- deletion syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757218

30 May 2018

A second case of microcephaly, microphthalmia, ectrodactyly (split-foot) and prognathism (MMEP).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757218

30 May 2018

Heterochromatin effects on the frequency and duration of LCR-mediated gene transcription.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757218

30 May 2018

Interstitial long-arm deletion of chromosome 7 and ectrodactyly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757218

30 May 2018

Ectro-amelia syndrome associated with an interstitial deletion of 7q.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757218

30 May 2018

Evaluation of denaturing high performance liquid chromatography (DHPLC) for the mutational analysis of the neurofibromatosis type 1 ( NF1) gene.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757218

28 November 2018

Split-foot anomaly, microphthalmia, cleft-lip and cleft-palate, and mental retardation associated with a chromosome 6;13 translocation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757218

28 November 2018

Ulnar ray defect in an infant with a 6q21;7q31.2 translocation: further evidence for the existence of a limb defect gene in 6q21.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1757218

28 November 2018

EEC syndrome (ectrodactyly, ectodermal dysplasia and cleft lip/palate) is on 7p11.2-q21.3

1 reference

https://pubmed.ncbi.nlm.nih.gov/12471201

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mapping of the gene for X-chromosomal split-hand/split-foot anomaly to Xq26-q26.1.

1 reference

https://pubmed.ncbi.nlm.nih.gov/12471201

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The breakpoints of the EEC syndrome (ectrodactyly, ectodermal dysplasia and cleft lip/palate) confirmed to 7q11.21 and 9p12 by fluorescence in situ hybridization

1 reference

https://pubmed.ncbi.nlm.nih.gov/12471201

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ectrodactyly and proximal/intermediate interstitial deletion 7q

1 reference

https://pubmed.ncbi.nlm.nih.gov/12471201

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Position effect in human genetic disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/12471201

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Locus control region function and heterochromatin-induced position effect variegation

1 reference

https://pubmed.ncbi.nlm.nih.gov/12471201

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Inhibitory effect of ethidium bromide on mitotic chromosome condensation and its application to high-resolution chromosome banding

1 reference

https://pubmed.ncbi.nlm.nih.gov/12471201

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[Interstitial deletion of the long arm of chromosome 7 and its clinical correlations]

1 reference

https://pubmed.ncbi.nlm.nih.gov/12471201

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Interstitial deletion of 6q21-q23 associated with split hand

1 reference

https://pubmed.ncbi.nlm.nih.gov/12471201

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JMG.39.12.893

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