(Q34539684)

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A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome

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Europe PubMed Central

PubMed publication ID

2 August 2017

A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome (English)

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Bartlomiej Budny

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Bartlomiej Budny

1

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Wei Chen

2

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3

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Heymut Omran

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Anna Latos-Bieleńska

12

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Anna Latos-Bielenska

1 reference

Europe PubMed Central

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2 August 2017

Hans-Hilger Ropers

13

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Hans-Hilger Ropers

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Europe PubMed Central

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2 August 2017

author name string

Manfred Fliegauf

4

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Europe PubMed Central

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2 August 2017

Andreas Tzschach

5

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Marzena Wisniewska

6

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Europe PubMed Central

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2 August 2017

Lars R Jensen

7

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Europe PubMed Central

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2 August 2017

Martine Raynaud

8

1 reference

Europe PubMed Central

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2 August 2017

Sarah A Shoichet

9

1 reference

Europe PubMed Central

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2 August 2017

Magda Badura

10

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Europe PubMed Central

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2 August 2017

Steffen Lenzner

11

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Europe PubMed Central

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2 August 2017

publication date

17 June 2006

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Europe PubMed Central

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2 August 2017

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Europe PubMed Central

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2 August 2017

120

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Europe PubMed Central

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2 August 2017

2

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Europe PubMed Central

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2 August 2017

171-178

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Europe PubMed Central

PubMed publication ID

2 August 2017

Cochlear development: hair cells don their wigs and get wired

1 reference

https://api.crossref.org/works/10.1007%2FS00439-006-0210-5

21 January 2018

Four novel mutations in the OFD1 (Cxorf5) gene in Finnish patients with oral-facial-digital syndrome 1

1 reference

https://pubmed.ncbi.nlm.nih.gov/16783569

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Decoding cilia function: defining specialized genes required for compartmentalized cilia biogenesis

1 reference

https://pubmed.ncbi.nlm.nih.gov/16783569

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

All-digital image capture and whole-field analysis of ciliary beat frequency

1 reference

https://pubmed.ncbi.nlm.nih.gov/16783569

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

RPGR-ORF15, which is mutated in retinitis pigmentosa, associates with SMC1, SMC3, and microtubule transport proteins

1 reference

https://pubmed.ncbi.nlm.nih.gov/16783569

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Nonspecific X-linked mental retardation II: the frequency in British Columbia.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16783569

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Neuronal primary cilia: a review

1 reference

https://pubmed.ncbi.nlm.nih.gov/16783569

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cilia and disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/16783569

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Microtubule transport defects in neurological and ciliary disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/16783569

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16783569

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

OFD1 is a centrosomal/basal body protein expressed during mesenchymal-epithelial transition in human nephrogenesis.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16783569

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse

1 reference

https://pubmed.ncbi.nlm.nih.gov/16783569

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Primary ciliary dyskinesia: clinical presentation, diagnosis and genetics

1 reference

https://pubmed.ncbi.nlm.nih.gov/16783569

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

X-linked mental retardation

1 reference

https://pubmed.ncbi.nlm.nih.gov/16783569

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study

1 reference

https://pubmed.ncbi.nlm.nih.gov/16783569

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization of Cxorf5 (71-7A), a novel human cDNA mapping to Xp22 and encoding a protein containing coiled-coil alpha-helical domains

1 reference

https://pubmed.ncbi.nlm.nih.gov/16783569

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation

1 reference

https://pubmed.ncbi.nlm.nih.gov/16783569

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Easy calculations of lod scores and genetic risks on small computers

1 reference

https://pubmed.ncbi.nlm.nih.gov/16783569

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16783569

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/16783569

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular motors in neuronal development, intracellular transport and diseases

1 reference

https://pubmed.ncbi.nlm.nih.gov/16783569

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Central nervous system malformations and early end-stage renal disease in oro-facio-digital syndrome type I: A review

1 reference

https://pubmed.ncbi.nlm.nih.gov/16783569

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of the gene for oral-facial-digital type I syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/16783569

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mapping of a new SGBS locus to chromosome Xp22 in a family with a severe form of Simpson-Golabi-Behmel syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/16783569

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Oral-facial-digital type I protein is required for primary cilia formation and left-right axis specification

1 reference

https://pubmed.ncbi.nlm.nih.gov/16783569

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S00439-006-0210-5

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Dimensions Publication ID

0 references

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

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