Sequence analysis of 21 genes located in the Kartagener syndrome linkage region on chromosome 15q (Q56968837)

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Michał Witt

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object named as

Michal Witt

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Maciej Geremek

1

object named as

Maciej Geremek

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author name string

Frederieke Schoenmaker

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Andrzej Pogorzelski

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Scott Diehl

European Journal of Human Genetics

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publication date

13 February 2008

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published in

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volume

16

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issue

6

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page(s)

688-695

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exact match

https://scigraph.springernature.com/pub.10.1038/ejhg.2008.5

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cites work

Genetic defects in ciliary structure and function

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.5

Primary ciliary dyskinesia: clinical presentation, diagnosis and genetics

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.5

Mislocalization of DNAH5 and DNAH9 in respiratory cells from patients with primary ciliary dyskinesia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.5

PCD and RP: X-linked inheritance of both disorders?

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.5

RPGR is mutated in patients with a complex X linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.5

Axonemal dynein intermediate-chain gene (DNAI1) mutations result in situs inversus and primary ciliary dyskinesia (Kartagener syndrome)

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.5

Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.5

Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.5

DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.5

Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.5

Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.5

A common variant in combination with a nonsense mutation in a member of the thioredoxin family causes primary ciliary dyskinesia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.5

Proteomic analysis of a eukaryotic cilium

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.5

Primary ciliary dyskinesia: a genome-wide linkage analysis reveals extensive locus heterogeneity

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.5

A locus for primary ciliary dyskinesia maps to chromosome 19q

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.5

Loci for primary ciliary dyskinesia map to chromosome 16p12.1-12.2 and 15q13.1-15.1 in Faroe Islands and Israeli Druze genetic isolates.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.5

Linkage analysis localises a Kartagener syndrome gene to a 3.5 cM region on chromosome 15q24-25.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.5

Genetic variation in ICF syndrome: evidence for genetic heterogeneity

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.5

Nasal and lower airway level of nitric oxide in children with primary ciliary dyskinesia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.5