Parental origin of mutations in sporadic cases of Treacher Collins syndrome (Q34225214)

31 July 2017

title

Parental origin of mutations in sporadic cases of Treacher Collins syndrome (English)

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31 July 2017

Ethylin Wang Jabs

2

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Maria Rita Passos-Bueno

series ordinal

4

object named as

Maria Rita Passos-Bueno

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31 July 2017

Alessandra Splendore

1

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31 July 2017

Têmis Maria Félix

series ordinal

3

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31 July 2017

publication date

1 September 2003

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European Journal of Human Genetics

31 July 2017

published in

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31 July 2017

volume

11

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31 July 2017

issue

9

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31 July 2017

page(s)

718-722

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The pathogenesis of the Treacher Collins syndrome (mandibulofacial dysostosis).

31 July 2017

cites work

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Screening of TCOF1 in patients from different populations: confirmation of mutational hot spots and identification of a novel missense mutation that suggests an important functional domain in the protein treacle

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A simple salting out procedure for extracting DNA from human nucleated cells

21 January 2018

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Treacher Collins syndrome may result from insertions, deletions or splicing mutations, which introduce a termination codon into the gene

21 January 2018

1 reference

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TCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins Syndrome throughout its coding region

21 January 2018

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Exclusive paternal origin of new mutations in Apert syndrome

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Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome

21 January 2018

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Mutations in fibroblast growth-factor receptor 3 in sporadic cases of achondroplasia occur exclusively on the paternally derived chromosome

21 January 2018

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The observed human sperm mutation frequency cannot explain the achondroplasia paternal age effect

21 January 2018

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Genotype-phenotype correlation for nucleotide substitutions in the IgII- IgIII linker of FGFR2

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Paternal origin of new mutations in von Recklinghausen neurofibromatosis.

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Sex differences in mutational rate and mutational mechanism in the NF1 gene in neurofibromatosis type 1 patients.

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Quantification of the paternal allele bias for new germline mutations in the retinoblastoma gene

21 January 2018

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MECP2 mutations in sporadic cases of Rett syndrome are almost exclusively of paternal origin

21 January 2018

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Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. The Treacher Collins Syndrome Collaborative Group

21 January 2018

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inferred from DOI database lookup

7 January 2021

based on heuristic

Two maternally derived missense mutations in the tyrosine kinase domain of the RET protooncogene in a patient with de novo MEN 2B

1 reference

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inferred from DOI database lookup

7 January 2021

based on heuristic

SNP identification, haplotype analysis, and parental origin of mutations in TSC2

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201029

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/SJ.EJHG.5201029

1 reference

31 July 2017

1 reference