(Q24310673)

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SAMS, a syndrome of short stature, auditory-canal atresia, mandibular hypoplasia, and skeletal abnormalities is a unique neurocristopathy caused by mutations in Goosecoid

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SAMS, a syndrome of short stature, auditory-canal atresia, mandibular hypoplasia, and skeletal abnormalities is a unique neurocristopathy caused by mutations in Goosecoid (English)

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Goosecoid homeobox

1 reference

GOA release 2020-03-11

neural crest cell fate specification

1 reference

GOA release 2020-03-11

Eamonn Sheridan

9

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David T. Bonthron

7

object named as

David T Bonthron

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Clare Victoria Logan

2

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object named as

David A Parry

1

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10

object named as

Neeti Ghali

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Albert E Chudley

11

object named as

Albert E Chudley

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author name string

Alexander P A Stegmann

3

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Zakia A Abdelhamed

4

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Alistair Calder

5

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Shabana Khan

6

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Virginia Clowes

8

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Angus Dobbie

12

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Constance T R M Stumpel

13

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Colin A Johnson

14

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language of work or name

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publication date

5 December 2013

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American Journal of Human Genetics

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93

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6

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1135-42

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The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3853132

19 March 2017

The Sequence Alignment/Map format and SAMtools

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3853132

19 March 2017

Goosecoid is not an essential component of the mouse gastrula organizer but is required for craniofacial and rib development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3853132

19 March 2017

Targeted mutation of the murine goosecoid gene results in craniofacial defects and neonatal death

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3853132

19 March 2017

Neural crest origins of the neck and shoulder

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3853132

19 March 2017

A framework for variation discovery and genotyping using next-generation DNA sequencing data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3853132

7 April 2017

Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3853132

7 April 2017

EVEN-SKIPPED HOMEOBOX 1 controls human ES cell differentiation by directly repressing GOOSECOID expression.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3853132

27 September 2017

FancyGene: dynamic visualization of gene structures and protein domain architectures on genomic loci.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3853132

27 September 2017

Mouse urogenital development: a practical approach

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3853132

27 September 2017

SAMS: provisionally unique multiple congenital anomalies syndrome consisting of short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3853132

27 September 2017

Toward a molecular understanding of skeletal development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3853132

27 September 2017

Gastrulation in the mouse: the role of the homeobox gene goosecoid

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3853132

27 September 2017

Variable expressivity of ciliopathy neurological phenotypes that encompass Meckel-Gruber syndrome and Joubert syndrome is caused by complex de-regulated ciliogenesis, Shh and Wnt signalling defects

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3853132

27 September 2017

Molecular nature of Spemann's organizer: the role of the Xenopus homeobox gene goosecoid

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3853132

30 May 2018

Exclusion of MYF5, GSC, RUNX2, and TCOF1 mutation in a case of cerebro-costo-mandibular syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3853132

29 November 2018

Auditory canal atresia, humeroscapular synostosis, and other skeletal abnormalities: confirmation of the autosomal recessive "SAMS" syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3853132

29 November 2018

Trunk neural crest has skeletogenic potential.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3853132

29 November 2018

Hemifacial microsomia: progress in understanding the genetic basis of a complex malformation syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/24290375

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Expression of the mouse goosecoid gene during mid-embryogenesis may mark mesenchymal cell lineages in the developing head, limbs and body wall

1 reference

https://pubmed.ncbi.nlm.nih.gov/24290375

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The prechordal midline of the chondrocranium is defective in Goosecoid-1 mouse mutants

1 reference

https://pubmed.ncbi.nlm.nih.gov/24290375

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Malformation of trachea and pelvic region in goosecoid mutant mice

1 reference

https://pubmed.ncbi.nlm.nih.gov/24290375

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prenatal development of the human shoulder and acromioclavicular joints

1 reference

https://pubmed.ncbi.nlm.nih.gov/24290375

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Syndromes of the first and second pharyngeal arches: A review

1 reference

https://pubmed.ncbi.nlm.nih.gov/24290375

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1016/J.AJHG.2013.10.027

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