(Q22008051)

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Characterization of a novel gene disrupted by a balanced chromosomal translocation t(2;19)(q11.2;q13.3) in a family with cleft lip and palate

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Characterization of a novel gene disrupted by a balanced chromosomal translocation t(2;19)(q11.2;q13.3) in a family with cleft lip and palate (English)

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CLPTM1 regulator of GABA type A receptor forward trafficking

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GOA release 2020-03-11

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Sandra Daack-Hirsch

object named as

S Daack-Hirsch

3

author given names

S

author last names

Daack-Hirsch

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7 February 2023

author name string

K Yoshiura

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author given names

K

author last names

Yoshiura

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7 February 2023

J Machida

2

author given names

J

author last names

Machida

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7 February 2023

S R Patil

4

author given names

S R

author last names

Patil

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7 February 2023

L K Ashworth

5

author given names

L K

author last names

Ashworth

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7 February 2023

J T Hecht

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author given names

J T

author last names

Hecht

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7 February 2023

J C Murray

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author given names

J C

author last names

Murray

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7 February 2023

language of work or name

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publication date

1 December 1998

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54

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2

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231-40

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The localization of a gene causing X-linked cleft palate and ankyloglossia (CPX) in an Icelandic kindred is between DXS326 and DXYS1X

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1998.5577

7 January 2021

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A comparison of GC content and the proportion of Alu/KpnI-repetitive sequences in a single dark- and light-band region from a human chromosome.

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1998.5577

7 January 2021

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Refinement of the Van der Woude gene location and construction of a 3.5-Mb YAC contig and STS map spanning the critical region in 1q32-q41.

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https://api.crossref.org/works/10.1006%2FGENO.1998.5577

7 January 2021

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Sequence analysis of two genomic regions containing the KIT and the FMS receptor tyrosine kinase genes

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https://api.crossref.org/works/10.1006%2FGENO.1998.5577

7 January 2021

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The major locus for multifactorial nonsyndromic cleft lip maps to mouse chromosome 11

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https://api.crossref.org/works/10.1006%2FGENO.1998.5577

7 January 2021

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Interpreting cDNA sequences: some insights from studies on translation

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https://api.crossref.org/works/10.1006%2FGENO.1998.5577

7 January 2021

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Evidence for an association between markers on chromosome 19q and non-syndromic cleft lip with or without cleft palate in two groups of multiplex families

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https://api.crossref.org/works/10.1006%2FGENO.1998.5577

7 January 2021

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Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9

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https://api.crossref.org/works/10.1006%2FGENO.1998.5577

7 January 2021

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A Drosophila protein that imparts directionality on a chromatin insulator is an enhancer of position-effect variegation

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https://api.crossref.org/works/10.1006%2FGENO.1998.5577

7 January 2021

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Basic local alignment search tool

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https://api.crossref.org/works/10.1006%2FGENO.1998.5577

7 January 2021

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The effect of follow-up on limiting non-participation bias in genetic epidemiologic investigations

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1998.5577

7 January 2021

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Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1998.5577

7 January 2021

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Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. The Treacher Collins Syndrome Collaborative Group

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https://api.crossref.org/works/10.1006%2FGENO.1998.5577

7 January 2021

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Good genes in bad neighbourhoods.

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1998.5577

7 January 2021

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Cloning a balanced translocation associated with DiGeorge syndrome and identification of a disrupted candidate gene

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1998.5577

7 January 2021

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Silent mutation induces exon skipping of fibrillin-1 gene in Marfan syndrome

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1998.5577

7 January 2021

based on heuristic

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An integrated metric physical map of human chromosome 19.

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1998.5577

7 January 2021

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Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1998.5577

7 January 2021

based on heuristic

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Characterization of the human HOX 7 cDNA and identification of polymorphic markers

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1998.5577

7 January 2021

based on heuristic

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Evidence of a locus for orofacial clefting on human chromosome 6p24 and STS content map of the region

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1998.5577

7 January 2021

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Computational and biological analysis of 680 kb of DNA sequence from the human 5q31 cytokine gene cluster region

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1998.5577

7 January 2021

based on heuristic

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Possible localization of a major gene for cleft lip and palate to 4q

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1998.5577

7 January 2021

based on heuristic

inferred from DOI database lookup

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