(Q36577378)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26502894%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

title

A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26502894%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

10

1 reference

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28 February 2020

Maryline Minoux

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26502894%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Sophie Jung

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26502894%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Annick Toutain

33

1 reference

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28 February 2020

Benjamin Fournier

46

1 reference

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28 February 2020

Muriel de la Dure Molla

47

1 reference

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28 February 2020

Ariane Berdal

51

1 reference

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28 February 2020

Agnes Bloch-Zupan

55

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26502894%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

54

Hélène Dollfus

1 reference

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28 February 2020

author name string

Megana K Prasad

1

1 reference

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28 February 2020

Véronique Geoffroy

2

1 reference

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28 February 2020

Serge Vicaire

3

1 reference

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28 February 2020

Bernard Jost

4

1 reference

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28 February 2020

Michael Dumas

5

1 reference

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28 February 2020

Stéphanie Le Gras

6

1 reference

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28 February 2020

Marzena Switala

7

1 reference

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28 February 2020

Barbara Gasse

8

1 reference

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28 February 2020

Virginie Laugel-Haushalter

9

1 reference

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28 February 2020

Bruno Leheup

11

1 reference

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28 February 2020

Dominique Droz

12

1 reference

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28 February 2020

Amelie Dalstein

13

1 reference

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28 February 2020

Adeline Loing

14

1 reference

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28 February 2020

Bruno Grollemund

15

1 reference

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28 February 2020

Michèle Muller-Bolla

16

1 reference

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28 February 2020

Séréna Lopez-Cazaux

17

1 reference

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28 February 2020

Frédéric Obry

20

1 reference

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28 February 2020

Vincent Vogt

21

1 reference

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28 February 2020

Jean-Luc Davideau

22

1 reference

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28 February 2020

Tiphaine Davit-Beal

23

1 reference

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28 February 2020

Anne-Sophie Kaiser

24

1 reference

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28 February 2020

Ute Moog

25

1 reference

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28 February 2020

Béatrice Richard

26

1 reference

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28 February 2020

Jean-Jacques Morrier

27

1 reference

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28 February 2020

Jean-Pierre Duprez

28

1 reference

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28 February 2020

Sylvie Odent

29

1 reference

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28 February 2020

Isabelle Bailleul-Forestier

30

1 reference

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28 February 2020

Monique Marie Rousset

31

1 reference

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28 February 2020

Laure Merametdijan

32

1 reference

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28 February 2020

Clara Joseph

34

1 reference

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28 February 2020

Fabienne Giuliano

35

1 reference

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28 February 2020

Jean-Christophe Dahlet

36

1 reference

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28 February 2020

Aymeric Courval

37

1 reference

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28 February 2020

Mustapha El Alloussi

38

1 reference

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28 February 2020

Samir Laouina

39

1 reference

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28 February 2020

Sylvie Soskin

40

1 reference

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28 February 2020

Nathalie Guffon

41

1 reference

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28 February 2020

Anne Dieux

42

1 reference

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28 February 2020

Bérénice Doray

43

1 reference

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28 February 2020

Stephanie Feierabend

44

1 reference

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28 February 2020

Emmanuelle Ginglinger

45

1 reference

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28 February 2020

Yves Alembik

48

1 reference

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28 February 2020

Corinne Tardieu

49

1 reference

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28 February 2020

François Clauss

50

1 reference

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28 February 2020

Corinne Stoetzel

52

1 reference

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28 February 2020

Marie Cécile Manière

53

1 reference

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28 February 2020

language of work or name

English

0 references

publication date

26 October 2015

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26502894%20AND%20SRC:MED&resulttype=core&format=json

Journal of Medical Genetics

28 February 2020

published in

1 reference

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28 February 2020

volume

53

1 reference

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28 February 2020

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26502894%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

page(s)

98-110

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26502894%20AND%20SRC:MED&resulttype=core&format=json

Variability of systemic and oro-dental phenotype in two families with non-lethal Raine syndrome with FAM20C mutations

28 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752661

VaRank: a simple and powerful tool for ranking genetic variants

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752661

Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta.

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752661

From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752661

The Mouse Genome Database (MGD): facilitating mouse as a model for human biology and disease

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752661

Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752661

Isolated dentinogenesis imperfecta and dentin dysplasia: revision of the classification

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752661

Pathognomonic oral profile of Enamel Renal Syndrome (ERS) caused by recessive FAM20A mutations

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752661

Deletion of ameloblastin exon 6 is associated with amelogenesis imperfecta

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752661

De novo loss-of-function mutations in SETD5, encoding a methyltransferase in a 3p25 microdeletion syndrome critical region, cause intellectual disability

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752661

STIM1 and SLC24A4 Are Critical for Enamel Maturation

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752661

Dominant β-catenin mutations cause intellectual disability with recognizable syndromic features

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752661

A missense mutation in ITGB6 causes pitted hypomineralized amelogenesis imperfecta

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752661

Targeted exome sequencing for mitochondrial disorders reveals high genetic heterogeneity

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752661

Diseases of the tooth: the genetic and molecular basis of inherited anomalies affecting the dentition

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752661

Spondyloepiphyseal dysplasias and bilateral legg-calvé-perthes disease: diagnostic considerations for mucopolysaccharidoses

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752661

Whole-exome sequencing, without prior linkage, identifies a mutation in LAMB3 as a cause of dominant hypoplastic amelogenesis imperfecta

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752661

Molars and incisors: show your microarray IDs.

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752661

Disease-targeted sequencing: a cornerstone in the clinic

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752661

Identification of mutations in SLC24A4, encoding a potassium-dependent sodium/calcium exchanger, as a cause of amelogenesis imperfecta

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752661

Diagnosing mucopolysaccharidosis IVA

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752661

An integrated map of genetic variation from 1,092 human genomes

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752661

Mutations in C4orf26, encoding a peptide with in vitro hydroxyapatite crystal nucleation and growth activity, cause amelogenesis imperfecta

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752661

Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752661

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752661

Mutations in WNT10A are present in more than half of isolated hypodontia cases.

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752661

Mutations in ROGDI Cause Kohlschütter-Tönz Syndrome

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752661

Target gene analyses of 39 amelogenesis imperfecta kindreds

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752661

Novel FAM20A mutations in hypoplastic amelogenesis imperfecta

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752661

Amelogenesis imperfecta: genotype-phenotype studies in 71 families

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752661

Whole-Exome sequencing identifies FAM20A mutations as a cause of amelogenesis imperfecta and gingival hyperplasia syndrome

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752661

A framework for variation discovery and genotyping using next-generation DNA sequencing data

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752661

Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing.

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752661

ZFIN: enhancements and updates to the Zebrafish Model Organism Database

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752661

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752661

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752661

A method and server for predicting damaging missense mutations

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752661

Fast and accurate long-read alignment with Burrows-Wheeler transform

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752661

Mutations in the beta propeller WDR72 cause autosomal-recessive hypomaturation amelogenesis imperfecta

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752661

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752661

WNT10A mutations are a frequent cause of a broad spectrum of ectodermal dysplasias with sex-biased manifestation pattern in heterozygotes

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752661

Oligodontia is caused by mutation in LTBP3, the gene encoding latent TGF-beta binding protein 3.

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752661

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752661

Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfecta

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752661

Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752661

Mutational spectrum of FAM83H: the C-terminal portion is required for tooth enamel calcification

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752661

FAM83H mutations in families with autosomal-dominant hypocalcified amelogenesis imperfecta

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752661

SNP genome scanning localizes oto-dental syndrome to chromosome 11q13 and microdeletions at this locus implicate FGF3 in dental and inner-ear disease and FADD in ocular coloboma

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752661

9 September 2017

Amelogenesis imperfecta

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752661

Developmental dental toxicity of dioxin and related compounds--a review

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752661

MMP-20 mutation in autosomal recessive pigmented hypomaturation amelogenesis imperfecta

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752661

DLX3 mutation associated with autosomal dominant amelogenesis imperfecta with taurodontism

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752661

Mutation in kallikrein 4 causes autosomal recessive hypomaturation amelogenesis imperfecta

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752661

Mutations in AXIN2 cause familial tooth agenesis and predispose to colorectal cancer

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752661

Prevalence of enamel mineralisation disturbances in an area with 1-1.2 ppm F in drinking water. Review and summary of a report published in Sweden in 1981

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752661

ESEfinder: A web resource to identify exonic splicing enhancers

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752661

Predictive identification of exonic splicing enhancers in human genes

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752661

Mutation of the gene encoding the enamel-specific protein, enamelin, causes autosomal-dominant amelogenesis imperfecta

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752661

A nonsense mutation in MSX1 causes Witkop syndrome

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752661

A new mathematical model for relative quantification in real-time RT-PCR

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752661

GeneSplicer: a new computational method for splice site prediction

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752661

Dentinogenesis imperfecta 1 with or without progressive hearing loss is associated with distinct mutations in DSPP

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752661

Dental findings in three siblings with Morquio's syndrome

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752661

Mutation of PAX9 is associated with oligodontia

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752661

Digenic junctional epidermolysis bullosa: mutations in COL17A1 and LAMB3 genes

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752661

Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752661

Identification of a new splice form of the EDA1 gene permits detection of nearly all X-linked hypohidrotic ectodermal dysplasia mutations

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752661

Mutational hotspots in the LAMB3 gene in the lethal (Herlitz) type of junctional epidermolysis bullosa

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752661

A human MSX1 homeodomain missense mutation causes selective tooth agenesis

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752661

Compound heterozygosity for a dominant glycine substitution and a recessive internal duplication mutation in the type XVII collagen gene results in junctional epidermolysis bullosa and abnormal dentition

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752661

Mucopolysaccharidosis IVA: screening and identification of mutations of the N-acetylgalactosamine-6-sulfate sulfatase gene

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752661

Altered laminin 5 expression due to mutations in the gene encoding the beta 3 chain (LAMB3) in generalized atrophic benign epidermolysis bullosa

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752661

Haplotype of multiple polymorphisms resolved by enzymatic amplification of single DNA molecules

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752661

A deletion in the amelogenin gene (AMG) causes X-linked amelogenesis imperfecta (AIH1)

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752661

A comprehensive analysis of normal variation and disease-causing mutations in the human DSPP gene

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752661

Wnt/beta-catenin signaling directs multiple stages of tooth morphogenesis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752661

Identification of a fibronectin interaction site in the extracellular matrix protein ameloblastin

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752661

Improved splice site detection in Genie

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752661

Premature termination codons are present on both alleles of the bullous pemphigoid antigen 2/type XVII collagen gene in five Austrian families with generalized atrophic benign epidermolysis bullosa.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752661

The dental manifestations of the Morquio syndrome (mucopolysaccharidosis type IV). A diagnostic aid.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752661

Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752661

MutationTaster2: mutation prediction for the deep-sequencing age.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752661

WNT10A mutations account for ¼ of population-based isolated oligodontia and show phenotypic correlations.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752661

Homozygous and compound heterozygous MMP20 mutations in amelogenesis imperfecta.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752661

Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752661

Nucleotide variants of genes encoding components of the Wnt signalling pathway and the risk of non-syndromic tooth agenesis.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752661

Diagnostic exome sequencing in persons with severe intellectual disability

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752661

Structure and function of ameloblastin as an extracellular matrix protein: adhesion, calcium binding, and CD63 interaction in human and mouse.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752661

Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752661

Mucopolysaccharidosis IVA mutations in Chinese patients: 16 novel mutations.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752661

A novel missense mutation of the EDA gene in a Mongolian family with congenital hypodontia.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752661

Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752661

The aetiology of developmental defects of enamel: a prevalence and family study in East London, U.K.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752661

A unifying aetiological explanation for anomalies of human tooth number and size

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4752661

Enamel defects in carriers of a novel LAMA3 mutation underlying epidermolysis bullosa

20 September 2018

1 reference

12 December 2020

Localized and generalized forms of blistering in junctional epidermolysis bullosa due to COL17A1 mutations in the Netherlands

1 reference

12 December 2020

Retrospective diagnosis of fatal BP180-deficient non-Herlitz junctional epidermolysis bullosa suggested by immunofluorescence (IF) antigen-mapping of parental carriers bearing enamel defects

1 reference

12 December 2020

Exonal deletion of SLC24A4 causes hypomaturation amelogenesis imperfecta

1 reference

12 December 2020

A meta-analysis of the prevalence of dental agenesis of permanent teeth

1 reference

12 December 2020

Oral findings in the Morquio syndrome (mucopolysaccharidosis IV)

1 reference

12 December 2020

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007

1 reference

12 December 2020

Isolated oligodontia associated with mutations in EDARADD, AXIN2, MSX1, and PAX9 genes

1 reference

12 December 2020

10.1136/JMEDGENET-2015-103302

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26502894%20AND%20SRC:MED&resulttype=core&format=json

release_7eujlo2qwvaprngykfnby4bh44

28 February 2020

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/7eujlo2qwvaprngykfnby4bh44

24 November 2022

mapped directly with Wikidata item

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26502894%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26502894%20AND%20SRC:MED&resulttype=core&format=json