(Q48527905)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27600704%20AND%20SRC:MED&resulttype=core&format=json

22 March 2020

title

SLC13A5 is the second gene associated with Kohlschütter-Tönz syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27600704%20AND%20SRC:MED&resulttype=core&format=json

genetic predisposition to disease

22 March 2020

main subject

amelogenesis imperfecta

1 reference

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2

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22 March 2020

Nicole I Wolf

4

1 reference

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22 March 2020

author name string

Anna Schossig

1

1 reference

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22 March 2020

Adrian Lussi

3

1 reference

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22 March 2020

Salmo Raskin

5

1 reference

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22 March 2020

Monika Cohen

6

1 reference

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22 March 2020

Fabienne Giuliano

7

1 reference

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22 March 2020

Julie Jurgens

8

1 reference

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22 March 2020

Birgit Krabichler

9

1 reference

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22 March 2020

David A Koolen

10

1 reference

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22 March 2020

Nara Lygia de Macena Sobreira

11

1 reference

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22 March 2020

Elisabeth Maurer

12

1 reference

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22 March 2020

Michèle Muller-Bolla

13

1 reference

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22 March 2020

Johann Penzien

14

1 reference

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22 March 2020

Johannes Zschocke

15

1 reference

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22 March 2020

Ines Kapferer-Seebacher

16

1 reference

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22 March 2020

language of work or name

English

0 references

publication date

6 September 2016

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27600704%20AND%20SRC:MED&resulttype=core&format=json

Journal of Medical Genetics

22 March 2020

published in

1 reference

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22 March 2020

volume

54

1 reference

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22 March 2020

issue

1

1 reference

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22 March 2020

page(s)

54-62

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27600704%20AND%20SRC:MED&resulttype=core&format=json

Kohlschutter syndrome in siblings

22 March 2020

cites work

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2016-103988

Ataxia, mental deterioration, epilepsy in a family with dominant enamel hypoplasia: a variant of Kohlschütter-Tönz syndrome?

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2016-103988

Yellow teeth, seizures, and mental retardation: a less severe case of Kohlschütter-Tönz syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2016-103988

A Novel Mutation in the ROGDI Gene in a Patient with Kohlschütter-Tönz Syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2016-103988

A nonsense mutation in the human homolog of Drosophila rogdi causes Kohlschutter-Tonz syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2016-103988

Kohlschutter-Tonz syndrome: clinical and genetic insights gained from 16 cases deriving from a close-knit village in Northern Israel.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2016-103988

Mutations in ROGDI Cause Kohlschütter-Tönz Syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2016-103988

Kohlschütter-Tönz syndrome: mutations in ROGDI and evidence of genetic heterogeneity

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2016-103988

Kohlschütter syndrome--an example of a rare progressive neuroectodermal disease. Case report and review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2016-103988

Kohlschütter-Tönz syndrome: epilepsy, dementia, and amelogenesis imperfecta.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2016-103988

Epileptic encephalopathy and amelogenesis imperfecta: Kohlschütter-Tönz syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2016-103988

Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2016-103988

Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2016-103988

Mutations in the Na(+)/citrate cotransporter NaCT (SLC13A5) in pediatric patients with epilepsy and developmental delay

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2016-103988

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2016-103988

ALOHOMORA: a tool for linkage analysis using 10K SNP array data

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2016-103988

PedCheck: a program for identification of genotype incompatibilities in linkage analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2016-103988

Merlin--rapid analysis of dense genetic maps using sparse gene flow trees

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2016-103988

Fast and accurate short read alignment with Burrows-Wheeler transform

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2016-103988

The Sequence Alignment/Map format and SAMtools

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2016-103988

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2016-103988

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2016-103988

A method and server for predicting damaging missense mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2016-103988

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2016-103988

MutationTaster2: mutation prediction for the deep-sequencing age.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2016-103988

Ion channels, channelopathies, and tooth formation

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2016-103988

Human sodium-coupled citrate transporter, the orthologue of Drosophila Indy, as a novel target for lithium action

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2016-103988

Structure of mature human dental enamel as observed by electron microscopy

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2016-103988

Molars and incisors: show your microarray IDs.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2016-103988

Cell cycle control, DNA damage repair, and apoptosis-related pathways control pre-ameloblasts differentiation during tooth development.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2016-103988

Identification of novel genes expressed during mouse tooth development by microarray gene expression analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2016-103988

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2016-103988

A further family with epilepsy, dementia and yellow teeth: the Kohlschütter syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2016-103988

10.1136/JMEDGENET-2016-103988

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27600704%20AND%20SRC:MED&resulttype=core&format=json

22 March 2020

1 reference