(Q57908821)

10

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Peter Nürnberg

11

object named as

Peter Nürnberg

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Christian Becker

6

object named as

Christian Becker

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author name string

Valeska Frank

1

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Anneke I. den Hollander

2

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Nadina Ortiz Brüchle

3

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Marijke N. Zonneveld

4

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Gudrun Nürnberg

5

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Gabriele Du Bois

7

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Heide Kendziorra

8

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Frans P.M. Cremers

12

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Klaus Zerres

13

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Carsten Bergmann

GRR: graphical representation of relationship errors

14

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publication date

January 2008

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published in

Human Mutation

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volume

29

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issue

1

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page(s)

45-52

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cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20614

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20614

7 January 2021

The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20614

7 January 2021

Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20614

7 January 2021

The Ciliopathies: An Emerging Class of Human Genetic Disorders

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20614

7 January 2021

Dissection of epistasis in oligogenic Bardet-Biedl syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20614

7 January 2021

CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20614

7 January 2021

Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20614

7 January 2021

Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20614

7 January 2021

The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20614

7 January 2021

Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20614

7 January 2021

Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20614

7 January 2021

Allegro, a new computer program for multipoint linkage analysis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20614

7 January 2021

The centrosome in neuronal development

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20614

7 January 2021

Cilia and centrosomes: a unifying pathogenic concept for cystic kidney disease?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20614

7 January 2021

Nonsense-mediated decay approaches the clinic

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20614

7 January 2021

Congenital disorders of glycosylation: a booming chapter of pediatrics

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20614

7 January 2021

Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20614

7 January 2021

Ciliary proteins and exencephaly.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20614

7 January 2021

Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20614

7 January 2021

Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20614

7 January 2021

MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20614

7 January 2021

A novel locus for Meckel-Gruber syndrome, MKS3, maps to chromosome 8q24.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20614

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20614

7 January 2021

The locus for Meckel syndrome with multiple congenital anomalies maps to chromosome 17q21-q24.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20614

7 January 2021

Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20614

7 January 2021

The laminopathies: a clinical review

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20614

7 January 2021

A gene for Meckel syndrome maps to chromosome 11q13.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20614

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20614

7 January 2021

The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20614

7 January 2021

The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20614

7 January 2021

HaploPainter: a tool for drawing pedigrees with complex haplotypes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20614

7 January 2021

High NPHP1 and NPHP6 mutation rate in patients with Joubert syndrome and nephronophthisis: potential epistatic effect of NPHP6 and AHI1 mutations in patients with NPHP1 mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20614

7 January 2021

Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20614

7 January 2021

A general method for the detection of large CAG repeat expansions by fluorescent PCR

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20614

7 January 2021