(Q34657870)

3 August 2017

title

Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome (English)

1 reference

Gabriele Gillessen-Kaesbach

3 August 2017

1 reference

1 reference

8

Gabriele Gillessen-Kaesbach

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Almuth Caliebe

2

Almuth Caliebe

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Valérie Cormier-Daire

6

Valérie Cormier-Daire

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Stefan Mundlos

27

Stefan Mundlos

1 reference

3 August 2017

Björn Fischer-Zirnsak

13

Björn Fischer-Zirnsak

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Celine Huber

Celine Huber

17

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Malte Spielmann

Malte Spielmann

19

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Peter Krawitz

Peter M Krawitz

23

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Peter Nürnberg

24

Peter Nürnberg

1 reference

3 August 2017

25

Reiner Siebert

1 reference

3 August 2017

12

Janine Altmüller

1 reference

3 August 2017

11

Holger Thiele

1 reference

ORCID Public Data File 2021

3 August 2017

1 reference

Sarina G. Kant

4

Sarina G Kant

1 reference

3 August 2017

20

Denise Horn

1 reference

3 August 2017

5

Zornitza Stark

1 reference

3 August 2017

Nadja Ehmke

1

1 reference

3 August 2017

Rainer Koenig

3

1 reference

3 August 2017

Dagmar Wieczorek

7

1 reference

3 August 2017

Kirstin Hoff

9

1 reference

3 August 2017

Amit Kawalia

10

1 reference

3 August 2017

Alexej Knaus

14

1 reference

3 August 2017

Na Zhu

15

1 reference

3 August 2017

Verena Heinrich

16

1 reference

3 August 2017

Izabela Harabula

18

1 reference

3 August 2017

Uwe Kornak

21

1 reference

3 August 2017

Jochen Hecht

22

1 reference

3 August 2017

Hermann Manzke

26

1 reference

3 August 2017

language of work or name

English

0 references

publication date

1 December 2014

1 reference

American Journal of Human Genetics

3 August 2017

published in

1 reference

3 August 2017

volume

95

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3 August 2017

issue

6

1 reference

3 August 2017

page(s)

763-770

1 reference

Jannovar: a java library for exome annotation

3 August 2017

cites work

1 reference

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7 July 2018

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7 July 2018

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7 July 2018

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7 July 2018

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7 July 2018

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7 July 2018

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Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis

7 July 2018

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A statistical framework for SNP calling, mutation discovery, association mapping and population genetical parameter estimation from sequencing data

7 July 2018

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Chondrodysplasia and abnormal joint development associated with mutations in IMPAD1, encoding the Golgi-resident nucleotide phosphatase, gPAPP.

7 July 2018

1 reference

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

7 July 2018

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Temtamy preaxial brachydactyly syndrome is caused by loss-of-function mutations in chondroitin synthase 1, a potential target of BMP signaling

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259972

MutationTaster evaluates disease-causing potential of sequence alterations

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259972

A method and server for predicting damaging missense mutations

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259972

Identification of CANT1 mutations in Desbuquois dysplasia

7 July 2018

1 reference

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

7 July 2018

1 reference

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Next generation tools for the annotation of human SNPs

7 July 2018

1 reference

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The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative

7 July 2018

1 reference

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The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease

7 July 2018

1 reference

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Catel-Manzke syndrome: two new patients and a critical review of the literature

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259972

UDP-glucuronate decarboxylase, a key enzyme in proteoglycan synthesis: cloning, characterization, and localization

7 July 2018

1 reference

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Molecular cloning and expression of a human chondroitin synthase

7 July 2018

1 reference

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A New Statistical Method for Haplotype Reconstruction from Population Data

7 July 2018

1 reference

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7 July 2018

1 reference

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A new multiple congenital anomaly, mental retardation syndrome with preaxial brachydactyly, hyperphalangism, deafness and orodental anomalies

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259972

Choledochal cyst associated with rare hand malformation.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259972

A digitopalatal syndrome with associated anomalies of the heart, face, and skeleton

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259972

Hyperphalangy and clinodactyly of the index finger with Pierre Robin anomaly: Catel-Manzke syndrome. A case report and review of the literature.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259972

Maternal hyperphenylalaninemia fetal effects

7 July 2018

1 reference

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Symmetrical hyperphalangy of the second finger by a supplementary metacarpus bone

7 July 2018

1 reference

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The Pierre Robin syndrome: unusual associated developmental defects

7 July 2018

1 reference

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Facial clefting and its syndromes

7 July 2018

1 reference

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A male infant with the Catel-Manzke syndrome and dislocatable knees

7 July 2018

1 reference

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Basic local alignment search tool

7 July 2018

1 reference

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Pierre Robin syndrome with hyperphalangism-clinodactylysm of the index finger: a possible new palato-digital syndrome

7 July 2018

1 reference

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Cleft palate and accessory metacarpal of index finger syndrome: possible familial occurrence

7 July 2018

1 reference

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A patient with hyperphalangism: the milder phenotype of Catel-Manzke syndrome.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259972

Index finger hyperphalangy and multiple anomalies: Catel-Manzke syndrome?

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259972

IMPAD1 mutations in two Catel-Manzke like patients

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259972

A genetic follow-up study of 64 patients with the Pierre Robin complex

26 October 2018

1 reference

12 December 2020

Pierre Robin sequence and hyperphalangy--a genetic entity (Catel-Manzke syndrome)

1 reference

12 December 2020

Glossoptotic hypoxia and micrognathia--the Pierre Robin syndrome reviewed. Early recognition and prompt surgical treatment is important for survival

1 reference

12 December 2020

Cystic hygroma and hirsutism in a child with Catel-Manzke syndrome

1 reference

12 December 2020

Die Hyperphalangie beim Pierre-Robin-Syndrom

1 reference

12 December 2020

Symmetric hyperphalangism of the index finger in the palatodigital syndrome: a case report

1 reference

12 December 2020

Catel-Manzke syndrome without cleft palate: a case report

1 reference

12 December 2020

Catel-Manzke syndrome: a clinical report suggesting autosomal recessive inheritance

1 reference

12 December 2020

Pierre Robin anomaly with an accessory metacarpal of the index fingers. The Catel-Manzke syndrome

1 reference

12 December 2020

The Catel-Manzke syndrome in a female infant

1 reference

12 December 2020

Catel-Manzke syndrome: a case report of a female with severely malformed hands and feet. An extension of the phenotype or a new syndrome?

1 reference

12 December 2020

10.1016/J.AJHG.2014.11.004

Identifiers

DOI

1 reference

3 August 2017

1 reference

3 August 2017

1 reference