Collagen XI sequence variations in nonsyndromic cleft palate, Robin sequence and micrognathia (Q24299191)

roof of mouth development

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

1 reference

13

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Tero Pihlajamaa

5

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Helena Kääriäinen

6

object named as

Helena Kääriäinen

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Jorma Rautio

7

object named as

Jorma Rautio

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author name string

Miia Melkoniemi

1

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Hannele Koillinen

2

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Minna Männikkö

3

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Matthew L Warman

4

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Jyri Hukki

8

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Joseph A Stofko

9

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George J Cisneros

10

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Deborah Krakow

11

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Daniel H Cohn

12

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Leena Ala-Kokko

European Journal of Human Genetics

14

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language of work or name

English

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publication date

March 2003

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published in

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volume

11

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issue

3

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page(s)

265-70

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cites work

The many faces and factors of orofacial clefts

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200950

The implications of the diagnosis of Robin sequence

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200950

Linkage analysis of candidate regions in Swedish nonsyndromic cleft lip with or without cleft palate families

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200950

Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200950

The human COL11A2 gene structure indicates that the gene has not evolved with the genes for the major fibrillar collagens

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200950

Conservation of the sizes of 53 introns and over 100 intronic sequences for the binding of common transcription factors in the human and mouse genes for type II procollagen (COL2A1).

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200950

Modulated Expression of Type X Collagen in the Meckel's Cartilage with Different Developmental Fates

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200950

The type XI collagenopathies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200950

Stickler syndrome without eye involvement is caused by mutations in COL11A2, the gene encoding the alpha2(XI) chain of type XI collagen

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200950

Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200950

Heterozygous glycine substitution in the COL11A2 gene in the original patient with the Weissenbacher-Zweymüller syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome)

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200950

Collagens and collagen-related diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200950

Conformation sensitive gel electrophoresis for simple and accurate detection of mutations: comparison with denaturing gradient gel electrophoresis and nucleotide sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200950

Genetic risk factors for lumbar disc disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200950

Listening to silence and understanding nonsense: exonic mutations that affect splicing

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200950

Unusual splice-site mutations in the RSK2 gene and suggestion of genetic heterogeneity in Coffin-Lowry syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200950

The mouse col11a2 gene. Some transcripts from the adjacent rxr-beta gene extend into the col11a2 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200950

Retinoic acid embryopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200950

Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13)

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200950

Identification of susceptibility loci for nonsyndromic cleft lip with or without cleft palate in a two stage genome scan of affected sib-pairs

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200950

Significant association of HLA-B and HLA-DRB1 alleles with cleft lip with or without cleft palate

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200950

inferred from DOI database lookup

7 January 2021

based on heuristic

Two new recurrent nucleotide mutations in theCOL1A1 gene in four patients with osteogenesis imperfecta: About one-fifth are recurrent

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200950